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["Gene","Disease Terms","Display Term","Inheritance Mode","Filter terms","Report Terms","Confidence","GeneTests~GeneReview~OMIM~Pubmed","Approved Symbol"]
["SEPT9","Neuritis with brachial predilection, NAPB","Neuralgic amyotrophy","Autosomal Dominant","amyotrophic neuralgia","amyotrophic neuralgia","HIGH","-~-~-~-","SEPT9"]
["SEPT12","Male infertility","Asthenozoospermia","Autosomal Dominant","Spermatogenic failure 10:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~-~-","SEPT12"]
["SEPT12","Male infertility","Oligoasthenozoospermia","Autosomal Dominant","Spermatogenic failure 10:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~-~-","SEPT12"]
["SEPT12","Male infertility","Primary spermatogenic failure","Autosomal Dominant","Spermatogenic failure 10:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~-~-","SEPT12"]
["SEPT12","Male infertility","Teratozoospermia","Autosomal Dominant","Spermatogenic failure 10:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~-~-","SEPT12"]
["A2M","Autism","Autistic Disorder","Risk","Alpha-2-macroglobulin deficiency:Autosomal Dominant$Autistic Disorder:Risk","Alpha-2-macroglobulin deficiency:Autosomal Dominant","HIGH","-~-~103950~-","A2M"]
["A2M","Chronic obstructive pulmonary disease","Chronic obstructive lung disease","Autosomal Dominant","Alpha-2-macroglobulin deficiency:Autosomal Dominant$Autistic Disorder:Risk","Alpha-2-macroglobulin deficiency:Autosomal Dominant","HIGH","-~-~103950~-","A2M"]
["A4GALT","Histo-blood group variant ","Blood group antigen Pk","Risk","Blood group antigen Pk:Risk","Blood group antigen Pk:Risk","HIGH","-~-~607922~-","A4GALT"]
["A4GALT","Pk synthase deficiency ","Blood group antigen Pk","Risk","Blood group antigen Pk:Risk","Blood group antigen Pk:Risk","HIGH","-~-~607922~-","A4GALT"]
["AAA1","Reduced signalling","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~608596~-","AAA1"]
["AAAS","Axonal neuropathy","Axonal neuropathy","Autosomal Recessive","Glucocorticoid deficiency with achalasia:Autosomal Recessive","Glucocorticoid deficiency with achalasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8086[geneid]~-~605378~-","AAAS"]
["AAAS","Triple-A syndrome","Glucocorticoid deficiency with achalasia","Autosomal Recessive","Glucocorticoid deficiency with achalasia:Autosomal Recessive","Glucocorticoid deficiency with achalasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8086[geneid]~-~605378~-","AAAS"]
["AADACL2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=344752[geneid]~-~-~-","AADACL2"]
["AARS","Altered mRNA folding","NULL","No disease associated","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=16[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~601065~-","AARS"]
["AARS","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, type II","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, type II:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=16[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~601065~-","AARS"]
["AARS","Charcot-Marie-Tooth disease, axonal","Charcot-Marie-Tooth disease, type II","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, type II:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=16[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~601065~-","AARS"]
["AARS","Hereditary motor neuropathy","Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, type II:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=16[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~601065~-","AARS"]
["AARS2","Mitochondrial cardiomyopathy, infantile","Fatal infantile mitochondrial cardiomyopathy","Autosomal Recessive","Fatal infantile mitochondrial cardiomyopathy:Autosomal Recessive$Mitochondrial myopathy:Autosomal Recessive","Fatal infantile mitochondrial cardiomyopathy:Autosomal Recessive$Mitochondrial myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57505[geneid]~-~612035~-","AARS2"]
["AARS2","Mitochondrial DNA depletion syndrome","Mitochondrial myopathy","Autosomal Recessive","Fatal infantile mitochondrial cardiomyopathy:Autosomal Recessive$Mitochondrial myopathy:Autosomal Recessive","Fatal infantile mitochondrial cardiomyopathy:Autosomal Recessive$Mitochondrial myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57505[geneid]~-~612035~-","AARS2"]
["AASS","Hyperlysinaemia","Hyperlysinemia","Autosomal Recessive","Hyperlysinemia:Autosomal Recessive$Saccharopinuria:Autosomal Recessive","Hyperlysinemia:Autosomal Recessive$Saccharopinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10157[geneid]~-~605113~-","AASS"]
["ABAT","GABA-transaminase deficiency","Gamma-aminobutyric acid transaminase deficiency","Autosomal Recessive","GABA-transaminase deficiency:Autosomal Recessive","GABA-transaminase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=18[geneid]~-~137150~-","ABAT"]
["ABCA1","Altered HDL cholesterol levels","High density lipoprotein cholesterol level","Autosomal Dominant","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","Autism spectrum disorder","Autistic Disorder","Risk","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","HDL deficiency","Familial hypoalphalipoproteinemia","Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","Increased plasma HDL cholesterol","High density lipoprotein cholesterol level","Modifier","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","Increased triglyceride levels","Coronary arteriosclerosis","Risk","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","Reduced plasma HDL cholesterol","Coronary arteriosclerosis","Risk","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","Scott syndrome","Scott syndrome","Autosomal Dominant","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","Tangier disease","Familial hypoalphalipoproteinemia","Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","Familial hypoalphalipoproteinemia:Autosomal Dominant$Tangier disease:Autosomal Recessive","HIGH","-~-~600046~-","ABCA1"]
["ABCA12","Autism","Autistic Disorder","Risk","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA12","Ichthyosiform erythroderma, congenital","Congenital ichthyosiform erythroderma","Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA12","Ichthyosiform erythroderma, congenital, nonbullous","Congenital ichthyosiform erythroderma","Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA12","Ichthyosis","Autosomal Recessive ichthyosis","Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA12","Ichthyosis, harlequin","Harlequin ichthyosis","Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA12","Ichthyosis, lamellar, type 2","Lamellar ichthyosis","Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","Congenital ichthyosiform erythroderma:Autosomal Recessive$Harlequin ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA13","Autism","Schizophrenia;Bipolar disorder;Depressive disorder","Autosomal Recessive","Autistic Disorder:Autosomal Recessive$Schizophrenia:Autosomal Recessive$Bipolar Disorder: Autosomal Recessive$Depressive disorder:Autosomal Recessive","Schizophrenia;Bipolar disorder;Depressive disorder$Autosomal Recessive","HIGH","-~-~607807~-","ABCA13"]
["ABCA13","Bipolar disorder","Schizophrenia;Bipolar disorder;Depressive disorder","Autosomal Recessive","Autistic Disorder:Autosomal Recessive$Schizophrenia:Autosomal Recessive$Bipolar Disorder: Autosomal Recessive$Depressive disorder:Autosomal Recessive","Schizophrenia;Bipolar disorder;Depressive disorder$Autosomal Recessive","HIGH","-~-~607807~-","ABCA13"]
["ABCA13","Schizophrenia","Schizophrenia;Bipolar disorder;Depressive disorder","Autosomal Recessive","Autistic Disorder:Autosomal Recessive$Schizophrenia:Autosomal Recessive$Bipolar Disorder: Autosomal Recessive$Depressive disorder:Autosomal Recessive","Schizophrenia;Bipolar disorder;Depressive disorder$Autosomal Recessive","HIGH","-~-~607807~-","ABCA13"]
["ABCA13","Schizophrenia / bipolar disorder / depression","Schizophrenia;Bipolar disorder;Depressive disorder","Autosomal Recessive","Autistic Disorder:Autosomal Recessive$Schizophrenia:Autosomal Recessive$Bipolar Disorder: Autosomal Recessive$Depressive disorder:Autosomal Recessive","Schizophrenia;Bipolar disorder;Depressive disorder$Autosomal Recessive","HIGH","-~-~607807~-","ABCA13"]
["ABCA13","Schizophrenia / depression","Schizophrenia;Bipolar disorder;Depressive disorder","Autosomal Recessive","Autistic Disorder:Autosomal Recessive$Schizophrenia:Autosomal Recessive$Bipolar Disorder: Autosomal Recessive$Depressive disorder:Autosomal Recessive","Schizophrenia;Bipolar disorder;Depressive disorder$Autosomal Recessive","HIGH","-~-~607807~-","ABCA13"]
["ABCA2","Alzheimer disease, early onset AD","Non-familial Alzheimer's disease of early onset","Risk","Autistic Disorder:Risk$Alzheimer's disease:Risk","Autistic Disorder;Alzheimer's disease:Risk","HIGH","-~-~600047~15649702","ABCA2"]
["ABCA2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk$Alzheimer's disease:Risk","Autistic Disorder;Alzheimer's disease:Risk","HIGH","-~-~600047~-","ABCA2"]
["ABCA3","Chronic lung disease","Desquamative interstitial pneumonia","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Chronic respiratory insufficiency","Chronic respiratory insufficiency","Autosomal Dominant","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Fatal surfactant deficiency","Respiratory distress syndrome in the newborn","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Lung disease","Interstitial lung disease","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Lung disease, interstitial","Interstitial lung disease","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Neonatal respiratory distress / interstitial lung disease","Respiratory distress syndrome in the newborn","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Pneumonia, neonatal interstitial","Interstitial pneumonia","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Pneumonitis, desquamative interstitial","Desquamative interstitial pneumonia","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Pulmonary hypertension","Pulmonary hypertension","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Respiratory distress","Respiratory distress","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Respiratory distress syndrome","Respiratory distress syndrome in the newborn","Autosomal Dominant","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA3","Respiratory distress, neonatal","Respiratory distress syndrome in the newborn","Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","Surfactant metabolism dysfunction, pulmonary, 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA4","Chorioretinal atrophy","Chorioretinal atrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Cone dystrophy","Cone dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Cone dystrophy, Autosomal Recessive","Cone dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Cone-rod degeneration","Stargardt's disease","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Cone-rod dystrophy with extensive atrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Cone-rod dystrophy, Autosomal Recessive","Progressive cone-rod dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Fundus flavimaculatus","Fundus flavimaculatus","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Fundus flavimaculatus, late onset","Fundus flavimaculatus","Autosomal Dominant","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Macular degeneration, age related","NULL","Negated by PMID 10442900,10634626,11857735","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Macular dystrophy","NULL","No PMID in HGMD","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Macular dystrophy, concentric annular","Bull's eye maculopathy","Autosomal Dominant","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Macular dystrophy, early-onset","Hereditary macular dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Maculopathy, atypical","Disorder of macula of retina","Autosomal Dominant","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Retinal degeneration","Degeneration of retina","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Retinal dystrophy","Retinal dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Retinopathy","Retinopathy","Autosomal Dominant","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Stargardt disease","Stargardt's disease","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Stargardt disease and macular degeneration","Stargardt's disease;Macular degeneration","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCA4","Stargardt disease, late-onset","Stargardt's disease","Autosomal Recessive","Cone-Rod Dystrophy 3:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Macular degeneration, age-related, 2:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant$Retinal Dystrophy, Early Onset Severe:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis Pigmentosa 19:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 1:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Fundus flavimaculatus:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCB1","Colorectal cancer","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~171050~-","ABCB1"]
["ABCB1","P-glycoprotein deficiency","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~171050~-","ABCB1"]
["ABCB11","Alternate splicing","Intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Cholestasis, drug-induced","Drug-induced intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Cholestasis, intrahepatic","Intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Increased mature protein levels","Intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Intrahepatic cholestasis of pregnancy","Cholestasis of pregnancy","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Intrahepatic cholestasis, benign recurrent","Benign recurrent intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Intrahepatic cholestasis, benign recurrent 2","Benign recurrent intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Intrahepatic cholestasis, familial benign","Benign recurrent intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Intrahepatic cholestasis, familial progressive","Progressive intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Intrahepatic cholestasis, familial progressive 2","Progressive intrahepatic cholestasis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Prolonged neonatal hepatitis","Neonatal hepatitis","Autosomal Dominant","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Transient neonatal cholestasis","Neonatal cholestasis","Risk","Benign recurrent intrahepatic cholestasis:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Progressive intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB4","Cholangitis","Cholangitis","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Cholangitis and cholangiocarcinoma","Cholangitis;Cholangiocarcinoma","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Cholestasis, anicteric","Intrahepatic cholestasis","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Cholestasis, drug-induced","Drug-induced intrahepatic cholestasis","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Cholestasis, intrahepatic","Intrahepatic cholestasis","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Cholesterol gallstone disease","On examination - cholesterol gallstone","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Hepatocellular injury, drug-induced","Liver damage;Drug-induced","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Intrahepatic cholestasis of pregnancy","Cholestasis of pregnancy","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Intrahepatic cholestasis, familial progressive","Progressive intrahepatic cholestasis","Autosomal Recessive","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Intrahepatic cholestasis, familial progressive 3","Progressive intrahepatic cholestasis","Autosomal Recessive","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","LPAC syndrome with dilation of the bile ducts and gallstones","Calculus in biliary tract","Autosomal Recessive","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","LPAC syndrome with intrahepatic cholestasis of pregnancy","Calculus in biliary tract;Cholestasis of pregnancy","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB4","Pancreatitis & cholelithiasis","Gallstone pancreatitis","Autosomal Dominant","Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive$Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","Disorder of gallbladder:Autosomal Dominant$Disorder of gallbladder:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant$Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB5","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611785~-","ABCB5"]
["ABCB6","Dyschromatosis universalis hereditaria","Dyschromatosis universalis hereditaria","Autosomal Dominant","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10058[geneid]~-~605452~-","ABCB6"]
["ABCB6","Lan","Blood group antigen Lan","Autosomal Recessive","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10058[geneid]~-~605452~-","ABCB6"]
["ABCB6","Ocular coloboma","Coloboma of eye","Autosomal Dominant","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10058[geneid]~-~605452~-","ABCB6"]
["ABCB6","Pseudohyperkalaemia, familial","Pseudohyperkalemia","Autosomal Dominant","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","Dyschromatosis universalis hereditaria:Autosomal Dominant$ Microphthalmia, Isolated, with Coloboma 7:Autosomal Dominant$Blood group antigen Lan:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10058[geneid]~-~605452~-","ABCB6"]
["ABCB7","Sideroblastic anaemia and ataxia","Sideroblastic anemia;Ataxia","X-linked Recessive","Sideroblastic anemia:X-linked Recessive$Ataxia:X-linked Recessive","Sideroblastic anemia:X-linked Recessive$Ataxia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1321~300135~-","ABCB7"]
["ABCC1","Altered subcellular localization","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~158343~-","ABCC1"]
["ABCC1","Anthracycline-induced cardiotoxicity","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~158343~-","ABCC1"]
["ABCC1","Decreased estradiol 17beta-glucuronide transport","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~158343~-","ABCC1"]
["ABCC1","Increased doxorubicin resistance","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~158343~-","ABCC1"]
["ABCC1","Increased multidrug response","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~158343~-","ABCC1"]
["ABCC1","Multidrug resistance","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~158343~-","ABCC1"]
["ABCC12","Potential protein deficiency","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607041~-","ABCC12"]
["ABCC2","Dubin-Johnson syndrome","Dubin-Johnson syndrome","Autosomal Recessive","Dubin-Johnson syndrome:Autosomal Recessive","Dubin-Johnson syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1244[geneid]~-~601107~-","ABCC2"]
["ABCC2","Methotrexate elimination, impaired","Drug Response","Pharmacogenetic","Dubin-Johnson syndrome:Autosomal Recessive","Dubin-Johnson syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1244[geneid]~-~601107~-","ABCC2"]
["ABCC2","Reduced expression","Drug Response","Pharmacogenetic","Dubin-Johnson syndrome:Autosomal Recessive","Dubin-Johnson syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1244[geneid]~-~601107~-","ABCC2"]
["ABCC2","Reduced mRNA expression","Drug Response","Pharmacogenetic","Dubin-Johnson syndrome:Autosomal Recessive","Dubin-Johnson syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1244[geneid]~-~601107~-","ABCC2"]
["ABCC3","Abnormal intracellular accumulation","Drug Response","Pharmacogenetic - Interindividual variation in the transport of drugs;","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604323~-","ABCC3"]
["ABCC3","Altered mRNA expression","Drug Response","Pharmacogenetic - Interindividual variation in the transport of drugs;","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604323~-","ABCC3"]
["ABCC3","Null allele","Drug Response","Pharmacogenetic - Interindividual variation in the transport of drugs;","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604323~-","ABCC3"]
["ABCC3","Potential protein deficiency","Drug Response","Pharmacogenetic - Interindividual variation in the transport of drugs;","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604323~-","ABCC3"]
["ABCC3","Reduced transport activity","Hepatotoxicity","Risk - Hepatotoxicity (due to poor ability to transport toxic compounds across the sinusoidal membrane);","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604323~-","ABCC3"]
["ABCC4","Increased promoter activity","Precursor Cell Lymphoblastic Leukemia-Lymphoma","Decreased Risk (better event-free survival with methotrexate treatment);","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~605250~-","ABCC4"]
["ABCC4","Reduced function","Drug Response","Risk- higher intracellular accumulation of endogenous and xenobiotic molecules;","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~605250~-","ABCC4"]
["ABCC6","Abdominal aortic aneurysm","NULL","Negated by PMID 16127279","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=368[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1113~603234~-","ABCC6"]
["ABCC6","Angioid streaks, macular dysfunction and generalised retinal involvement","Angioid streaks of choroid","Autosomal Recessive","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Incomplete Pseudoxanthoma Elasticum:Autosomal Dominant","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Dominant","HIGH","-~-~-~-","MRP6"]
["ABCC6","Generalized arterial calcification of infancy","Idiopathic arterial calcification of infancy","Autosomal Dominant","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Incomplete Pseudoxanthoma Elasticum:Autosomal Dominant","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Dominant","HIGH","-~-~-~-","MRP6"]
["ABCC6","Pseudoxanthoma elasticum & Moya Moya disease","Pseudoxanthoma elasticum;Moyamoya disease","Risk","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Incomplete Pseudoxanthoma Elasticum:Autosomal Dominant","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Dominant","HIGH","-~-~-~-","MRP6"]
["ABCC6 ","Angioid streaks","Angioid streaks of choroid","Autosomal Recessive","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Incomplete Pseudoxanthoma Elasticum:Autosomal Dominant","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Dominant","HIGH","-~-~-~-","MRP6"]
["ABCC6 ","Pseudoxanthoma elasticum","Pseudoxanthoma elasticum","Autosomal Recessive","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Incomplete Pseudoxanthoma Elasticum:Autosomal Dominant","Idiopathic arterial calcification of infancy:Autosomal Dominant$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Dominant","HIGH","-~-~-~-","MRP6"]
["ABCC7","Pseudoxanthoma elasticum with angioid streaks","NULL","Autosomal Recessive","NULL","NULL","HIGH","-~-~603112~-","MRP6"]
["ABCC8","Developmental delay, epilepsy & neonatal diabetes","Developmental delay;Epilepsy;Neonatal diabetes mellitus","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Diabetes, adult-onset","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Diabetes, neonatal","Neonatal diabetes mellitus","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Diabetes, neonatal/adult-onset","Neonatal diabetes mellitus;Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Diabetes, NIDDM","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Diabetes, permanent neonatal","Neonatal diabetes mellitus","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Diabetes, transient neonatal","Transitory neonatal diabetes mellitus","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Hyperglycaemia","Hyperglycemia","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Hyperinsulinism","Hyperinsulinism","Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Hyperinsulinism of infancy","PHHI - Persistent hyperinsulinemic hypoglycemia of infancy","Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Hyperinsulinism, diffuse congenital","PHHI - Persistent hyperinsulinemic hypoglycemia of infancy","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Hyperinsulinism, focal congenital","PHHI - Persistent hyperinsulinemic hypoglycemia of infancy","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Hypoglycaemia, hyperinsulinaemic","Persistent hyperinsulinemic hypoglycemia of infancy","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Hypoglycaemia, persistent hyperinsulinaemic","Persistent hyperinsulinemic hypoglycemia of infancy","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes mellitus type 2:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Transitory neonatal diabetes mellitus:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Dominant$Persistent hyperinsulinemic hypoglycemia of infancy:Autosomal Recessive$Leucine-induced hypoglycemia:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC9","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10060[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601439~-","ABCC9"]
["ABCC9","Cant? syndrome","Cantu's syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10060[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601439~-","ABCC9"]
["ABCC9","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10060[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601439~-","ABCC9"]
["ABCC9","Pseudoxanthoma elasticum, Autosomal Recessive","Pseudoxanthoma elasticum","Autosomal Recessive","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cantu's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10060[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601439~-","MRP6"]
["ABCD1","Addison disease","Addison's disease","X-linked Recessive","Adrenoleukodystrophy:X-linked Recessive","Adrenoleukodystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=215[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1315~300371~-","ABCD1"]
["ABCD1","Adrenoleukodystrophy","Adrenoleukodystrophy","X-linked Recessive","Adrenoleukodystrophy:X-linked Recessive","Adrenoleukodystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=215[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1315~300371~-","ABCD1"]
["ABCD1","Adrenomyeloneuropathy","Adrenoleukodystrophy","X-linked Recessive","Adrenoleukodystrophy:X-linked Recessive","Adrenoleukodystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=215[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1315~300371~-","ABCD1"]
["ABCD3","Zellweger syndrome","NULL","Negated by PMID 9199576","NULL","NULL","HIGH","-~-~170995~-","ABCD3"]
["ABCD4","Inborn error of vitamin B12 metabolism","Methylmalonic acidemia with homocystinuria","Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1328~603214~-","ABCD4"]
["ABCG2","Breast cancer resistance protein deficiency","Drug Response","Pharmacogenetic","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","HIGH","-~-~603756~-","ABCG2"]
["ABCG2","Defective porphyrin transport","Porphyria","Risk","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","HIGH","-~-~603756~-","ABCG2"]
["ABCG2","Impaired porphyrin transport","Porphyria","Risk","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","HIGH","-~-~603756~-","ABCG2"]
["ABCG2","Jr","Blood group antigen Jr(a)","Autosomal Recessive","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","HIGH","-~-~603756~-","ABCG2"]
["ABCG2","Reduced function","Drug Response","Pharmacogenetic","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","HIGH","-~-~603756~-","ABCG2"]
["ABCG2","Reduced protein expression","Drug Response","Pharmacogenetic","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","Blood group antigen Jr(a):Autosomal Recessive$Serum urate level:Modifier","HIGH","-~-~603756~-","ABCG2"]
["ABCG5","Sitosterolaemia","Sitosterolemia","Autosomal Recessive","Sitosterolemia:Autosomal Recessive","Sitosterolemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131810~605459~-","ABCG5"]
["ABCG8","Reduced serum noncholesterol sterols","Disorder of cholesterol metabolism","Risk","Disorder of gallbladder:Risk$Sitosterolemia:Autosomal Recessive","Sitosterolemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131810~605460~-","ABCG8"]
["ABCG8","Sitosterolaemia","Sitosterolemia","Autosomal Recessive","Disorder of gallbladder:Risk$Sitosterolemia:Autosomal Recessive","Sitosterolemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131810~605460~-","ABCG8"]
["ABCG8","Smaller decline in cholesterol synthesis after weight loss","Disorder of cholesterol metabolism","Risk","Disorder of gallbladder:Risk$Sitosterolemia:Autosomal Recessive","Sitosterolemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131810~605460~-","ABCG8"]
["ABHD12","Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa & cataract","NULL","Duplicate entry","NULL","NULL","HIGH","-~-~613599~-","ABHD12"]
["ABHD12","Polyneuropathy, hearing loss, ataxia, retinitis pigmmentosa and cataract","Polyneuropathy;Hearing loss;Ataxia;Retinitis pigmentosa;Cataract","Autosomal Recessive","Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataract:Autosomal Recessive$Usher Syndrome, Type III:Autosomal Recessive$Retinitis pigmentosa-deafness syndrome:Autosomal Recessive","Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataract:Autosomal Recessive","HIGH","-~-~613599~-","ABHD12"]
["ABHD12","Usher syndrome 3","Usher Syndrome, Type III ","Autosomal Recessive","Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataract:Autosomal Recessive$Usher Syndrome, Type III:Autosomal Recessive$Retinitis pigmentosa-deafness syndrome:Autosomal Recessive","Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataract:Autosomal Recessive","HIGH","-~-~613599~-","ABHD12"]
["ABHD5","Chanarin-Dorfman syndrome","Triglyceride storage disease with ichthyosis","Autosomal Recessive","Chanarin-Dorfman syndrome:Autosomal Recessive","Chanarin-Dorfman syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51099[geneid]~-~604780~-","ABHD5"]
["ABI3BP","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606279~-","ABI3BP"]
["ABP1","Reduced expression","Histamine intolerance","Risk","Histamine intolerance:Risk","Histamine intolerance:Risk","HIGH","-~-~104610~-","ABP1"]
["ACACA","Ovarian cancer","NULL","PMID 15333468 mentions risk for Breast Cancer, not Ovarian Cancer ","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=31[geneid]~-~200350~-","ACACA"]
["ACACB","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk$Insulin Resistance:Risk$Hyperinsulinism:Risk","Autistic Disorder:Risk$Insulin Resistance:Risk$Hyperinsulinism:Risk","HIGH","-~-~601557~-","ACACB"]
["ACACB","Hyperinsulinism","Hyperinsulinism","Risk","Autistic Disorder:Risk$Insulin Resistance:Risk$Hyperinsulinism:Risk","Autistic Disorder:Risk$Insulin Resistance:Risk$Hyperinsulinism:Risk","HIGH","-~-~601557~-","ACACB"]
["ACACB","Reduced mRNA expression","Insulin Resistance","Risk","Autistic Disorder:Risk$Insulin Resistance:Risk$Hyperinsulinism:Risk","Autistic Disorder:Risk$Insulin Resistance:Risk$Hyperinsulinism:Risk","HIGH","-~-~601557~-","ACACB"]
["ACACB","Reduced promoter activity","NULL",null,"NULL","NULL","HIGH","-~-~601557~-","ACACB"]
["ACAD8","Isobutyryl-CoA dehydrogenase deficiency","Deficiency of isobutyryl-CoA dehydrogenase","Autosomal Recessive","Deficiency of isobutyryl-CoA dehydrogenase:Autosomal Recessive","Deficiency of isobutyryl-CoA dehydrogenase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27034[geneid]~-~604773~-","ACAD8"]
["ACAD9","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=28976[geneid]~-~611103~-","ACAD9"]
["ACAD9","Riboflavin responsive complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=28976[geneid]~-~611103~-","ACAD9"]
["ACADL","Acyl-CoA dehydrogenase, long chain deficiency","Long chain acyl-CoA dehydrogenase deficiency","Risk","Long chain acyl-CoA dehydrogenase deficiency:Risk","Long chain acyl-CoA dehydrogenase deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=33[geneid]~-~609576~-","ACADL"]
["ACADL","Acyl-CoA dehydrogenase, long chain deficiency","NULL","Omim Entry (609576) makes no mention of human disorders. PMID 21228398 makes no mention of gene ACADL","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=33[geneid]~-~609576~-","ACADL"]
["ACADM","Medium chain acyl CoA dehydrogenase deficiency","Medium-chain acyl-coenzyme A dehydrogenase deficiency","Autosomal Recessive","Medium-chain acyl-coenzyme A dehydrogenase deficiency:Autosomal Recessive","Medium-chain acyl-coenzyme A dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=34[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1424~607008~-","ACADM"]
["ACADS","Acyl-CoA-dehydrogenase deficiency","Acyl-CoA dehydrogenase deficiency","Autosomal Recessive","Acyl-CoA dehydrogenase deficiency:Autosomal Recessive","Acyl-CoA dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=35[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK63582~606885~-","ACADS"]
["ACADSB","2-Methylbutyryl-CoA dehydrogenase deficiency","2-methylbutyrylglycinuria","Autosomal Recessive","2-methylbutyrylglycinuria:Autosomal Recessive","2-methylbutyrylglycinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=36[geneid]~-~600301~-","ACADSB"]
["ACADVL","Carnitine palmitoyltransferase 2 deficiency, partial","Carnitine palmitoyltransferase II deficiency","Autosomal Dominant","Very long chain acyl-CoA dehydrogenase deficiency:Autosomal Recessive","Very long chain acyl-CoA dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=37[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6816~609575~-","ACADVL"]
["ACADVL","Very long chain acyl-CoA dehydrogenase deficiency","Very long chain acyl-CoA dehydrogenase deficiency","Autosomal Recessive","Very long chain acyl-CoA dehydrogenase deficiency:Autosomal Recessive","Very long chain acyl-CoA dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=37[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6816~609575~-","ACADVL"]
["ACAN","Osteochondritis dissecans, dominant familial","Osteochondritis dissecans","Autosomal Dominant","Osteochondritis dissecans:Autosomal Dominant$Spondyloepimetaphyseal Dysplasia, Aggrecan Type:Autosomal Recessive$Spondyloepiphyseal dysplasia, Kimberley type:Autosomal Dominant","Osteochondritis dissecans:Autosomal Dominant$Spondyloepimetaphyseal Dysplasia, Aggrecan Type:Autosomal Recessive$Spondyloepiphyseal dysplasia, Kimberley type:Autosomal Dominant","HIGH","-~-~155760~-","ACAN"]
["ACAN","Spondyloepimetaphyseal dysplasia","Autosomal Recessive spondyloepimetaphyseal dysplasia","Autosomal Recessive","Osteochondritis dissecans:Autosomal Dominant$Spondyloepimetaphyseal Dysplasia, Aggrecan Type:Autosomal Recessive$Spondyloepiphyseal dysplasia, Kimberley type:Autosomal Dominant","Osteochondritis dissecans:Autosomal Dominant$Spondyloepimetaphyseal Dysplasia, Aggrecan Type:Autosomal Recessive$Spondyloepiphyseal dysplasia, Kimberley type:Autosomal Dominant","HIGH","-~-~155760~-","ACAN"]
["ACAN","Spondyloepiphyseal dysplasia, Kimberley type","Spondyloepiphyseal dysplasia congenita group","Autosomal Dominant","Osteochondritis dissecans:Autosomal Dominant$Spondyloepimetaphyseal Dysplasia, Aggrecan Type:Autosomal Recessive$Spondyloepiphyseal dysplasia, Kimberley type:Autosomal Dominant","Osteochondritis dissecans:Autosomal Dominant$Spondyloepimetaphyseal Dysplasia, Aggrecan Type:Autosomal Recessive$Spondyloepiphyseal dysplasia, Kimberley type:Autosomal Dominant","HIGH","-~-~155760~-","ACAN"]
["ACAT1","Acetoacetyl-CoA-thiolase deficiency","Deficiency of acetyl-CoA acetyltransferase","Autosomal Recessive","Deficiency of acetyl-CoA acetyltransferase:Autosomal Recessive","Deficiency of acetyl-CoA acetyltransferase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=38[geneid]~-~607809~-","ACAT1"]
["ACBD5","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Thrombocytopenia:Autosomal Dominant","Thrombocytopenia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91452[geneid]~-~-~-","ACBD5"]
["ACBD5","Thrombocytopaenia","Thrombocytopenia","Autosomal Dominant","Thrombocytopenia:Autosomal Dominant","Thrombocytopenia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91452[geneid]~-~-~-","ACBD5"]
["ACBD6","Intellectual disability","Intellectual Disability","Autosomal Recessive","Intellectual Disability:Autosomal Recessive$Cognitive disorder:Autosomal Recessive","Intellectual Disability:Autosomal Recessive",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84320[geneid]~-~-~-","ACBD6"]
["ACE","Increased serum ACE concentration","Increased Serum angiotensin-converting enzyme level","Autosomal Dominant","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1636[geneid]~-~106180~-","ACE"]
["ACE","Renal tubular dysgenesis","Renal dysplasia","Autosomal Recessive","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1636[geneid]~-~106180~-","ACE"]
["ACHE","Anti-acetylcholinesterase sensitivity","Central acetylcholinesterase inhibitor, sensitivity to","Autosomal Dominant","Antigen in Cartwright blood group system:Autosomal Recessive","Antigen in Cartwright blood group system:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=43[geneid]~-~100740~-","ACHE"]
["ACHE","YT2 blood group antigen","Blood group antigen Yt(b)","Autosomal Recessive","Antigen in Cartwright blood group system:Autosomal Recessive","Antigen in Cartwright blood group system:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=43[geneid]~-~100740~-","ACHE"]
["ACO2","Cerebellar-retinal degeneration, infantile","Infantile cerebellar-retinal degeneration","Autosomal Recessive","Infantile cerebellar-retinal degeneration:Autosomal Recessive","Infantile cerebellar-retinal degeneration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50[geneid]~-~100850~-","ACO2"]
["ACOX1","Peroxisomal acyl-CoA oxidase deficiency","Peroxisomal ACYL-COA oxidase deficiency","Autosomal Recessive","Peroxisomal ACYL-COA oxidase deficiency:Autosomal Recessive","Peroxisomal ACYL-COA oxidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51[geneid]~-~609751~-","ACOX1"]
["ACP5","Spondyloenchondrodysplasia","Spondyloenchondrodysplasia","Autosomal Recessive","Spondyloenchondrodysplasia:Autosomal Recessive","Spondyloenchondrodysplasia:Autosomal Recessive","HIGH","-~-~171640~-","ACP5"]
["ACSF3","Malonic & methylmalonic aciduria, combined","Combined malonic and methylmalonic aciduria","Autosomal Recessive","Combined malonic and methylmalonic aciduria:Autosomal Recessive","Combined malonic and methylmalonic aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=197322[geneid]~-~614245~-","ACSF3"]
["ACSL4","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2182[geneid]~-~300157~-","ACSL4"]
["ACSM3","Increased expression","Hypertriglyceridemia;Hypercholesterolemia;Obesity;Essential hypertension","Risk","Essential hypertension:Risk","Essential hypertension:Risk","HIGH","-~-~145505~-","ACSM3"]
["ACSM3","Increased expression","NULL",null,"NULL","NULL","HIGH","-~-~145505~-","ACSM3"]
["ACTA1","Actin myopathy","Myopathy, Actin, Congenital, With Cores","Autosomal Dominant","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Congenital myopathy","Congenital myopathy with uniform fiber type","Autosomal Dominant","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Congenital myopathy with fibre-type disproportion","Congenital myopathy with fiber type disproportion","Autosomal Dominant","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Core myopathy","Myopathy, Actin, Congenital, With Cores","Autosomal Dominant","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Fetal akinesia","Pena-Shokeir phenotype","Autosomal Dominant","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Nemaline myopathy","Nemaline myopathy","Autosomal Dominant","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Nemaline myopathy and dilated cardiomyopathy","Nemaline myopathy;Dilated Cardiomyopathy","Autosomal Dominant","Myopathy, actin, congenital, with cores$Myopathy, actin, congenital, with excess of thin myofilaments$Myopathy, congenital, with fiber-type disproportion 1$Nemaline myopathy 3, Autosomal Dominant or recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Nemaline myopathy and hypertrophic cardiomyopathy","Nemaline myopathy;Hypertrophic cardiomyopathy","Autosomal Dominant","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Myopathy, Actin, Congenital, With Cores:Autosomal Dominant$Congenital myopathy with fiber type disproportion:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~102610~-","ACTA1"]
["ACTA1","Neuromuscular disorder","NULL","No PMID in HGMD","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259~102610~-","ACTA1"]
["ACTA2","Aortic aneurysm","Aortic aneurysm","Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~102620~-","ACTA2"]
["ACTA2","Cerebrovascular disease","Cerebrovascular disease","Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~102620~-","ACTA2"]
["ACTA2","Multisystem smooth muscle dysfunction","Disorder of smooth muscle","Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~102620~-","ACTA2"]
["ACTA2","Thoracic aortic aneurysms & dissections","Thoracic aortic aneurysm;Thoracic aortic dissection","Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~102620~-","ACTA2"]
["ACTA2","Thoracic aortic disease & coronary artery disease","Thoracic aortic aneurysm;Coronary arteriosclerosis","Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~102620~-","ACTA2"]
["ACTA2","Thoracic aortic disease & strokes","Thoracic aortic aneurysm;Ischemic stroke","Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~102620~-","ACTA2"]
["ACTA2","Thoracic aortic disease, coronary artery disease & strokes","Thoracic aortic aneurysm;Coronary arteriosclerosis;Ischemic stroke;Moyamoya disease","Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","Aortic aneurysm:Autosomal Dominant$Moyamoya disease:Autosomal Dominant$Disorder of smooth muscle:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~102620~-","ACTA2"]
["ACTB","Baraitser-Winter syndrome","Baraitser-Winter syndrome 1","Autosomal Dominant","Baraitser-Winter syndrome 1:Autosomal Dominant$Dystonia:Autosomal Dominant","Baraitser-Winter syndrome 1:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60[geneid]~-~102630~-","ACTB"]
["ACTB","Developmental malformations, sensory hearing loss & dystonia","Developmental anomaly;Sensorineural hearing loss;Dystonia","Autosomal Dominant","Baraitser-Winter syndrome 1:Autosomal Dominant$Dystonia:Autosomal Dominant","Baraitser-Winter syndrome 1:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60[geneid]~-~102630~-","ACTB"]
["ACTB","Neutrophil dysfunction and recurrent infection","Congenital neutrophil actin dysfunction","Autosomal Dominant","Baraitser-Winter syndrome 1:Autosomal Dominant$Dystonia:Autosomal Dominant","Baraitser-Winter syndrome 1:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60[geneid]~-~102630~-","ACTB"]
["ACTC1","Atrial septal defect","Atrial septal defect","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=70[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~102540~-","ACTC1"]
["ACTC1","Cardiomyopathy, dilated","Dilated cardiomyopathy","Risk","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=70[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~102540~-","ACTC1"]
["ACTC1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=70[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~102540~-","ACTC1"]
["ACTC1","Cardiomyopathy, non-compaction, left ventricular","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=70[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~102540~-","ACTC1"]
["ACTC1","Cardiomyopathy, restrictive","Restrictive cardiomyopathy","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Risk$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=70[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~102540~-","ACTC1"]
["ACTG1","Baraitser-Winter syndrome","Baraitser-Winter syndrome 1","Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=71[geneid]~-~102560~-","ACTG1"]
["ACTG1","Deafness, dominant progressive","Deafness","Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=71[geneid]~-~102560~-","ACTG1"]
["ACTG1","Hearing loss","Hearing loss","Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=71[geneid]~-~102560~-","ACTG1"]
["ACTG1","Hearing loss, non-syndromic","Hearing loss, non-syndromic","Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","Baraitser-Winter syndrome 2:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=71[geneid]~-~102560~-","ACTG1"]
["ACTN2","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=88[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~102573~-","ACTN2"]
["ACTN2","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=88[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~102573~-","ACTN2"]
["ACTN4","Glomerulosclerosis, focal and segmental","Focal segmental glomerulosclerosis","Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81[geneid]~-~604638~-","ACTN4"]
["ACVR1","Atrioventricular septum defects","Atrioventricular septal defect","Autosomal Dominant","Progressive myositis ossificans:Autosomal Dominant","Progressive myositis ossificans:Autosomal Dominant","HIGH","-~-~102576~-","ACVR1"]
["ACVR1","Congenital heart defect in Down's syndrome patient","Atrioventricular septal defect - isolated atrial component in Complete trisomy 21 syndrome","Autosomal Dominant","Progressive myositis ossificans:Autosomal Dominant","Progressive myositis ossificans:Autosomal Dominant","HIGH","-~-~102576~-","ACVR1"]
["ACVR1","Fibrodysplasia ossificans progressiva","Progressive myositis ossificans","Autosomal Dominant","Progressive myositis ossificans:Autosomal Dominant","Progressive myositis ossificans:Autosomal Dominant","HIGH","-~-~102576~-","ACVR1"]
["ACVR2B","Left-right axis malformation","Situs ambiguus","Autosomal Dominant","Situs ambiguus:Autosomal Dominant","Situs ambiguus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=93[geneid]~-~602730~-","ACVR2B"]
["ACVRL1","Haemorrhagic telangiectasia","Osler hemorrhagic telangiectasia syndrome","Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=94[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~601284~-","ACVRL1"]
["ACVRL1","Haemorrhagic telangiectasia 2","Osler hemorrhagic telangiectasia syndrome","Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=94[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~601284~-","ACVRL1"]
["ACVRL1","Pituitary cancer","Malignant tumor of pituitary gland","Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=94[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~601284~-","ACVRL1"]
["ACVRL1","Pulmonary arterial hypertension","Primary pulmonary hypertension","Risk","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=94[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~601284~-","ACVRL1"]
["ACVRL1","Pulmonary hypertension, primary","Primary pulmonary hypertension","Risk","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=94[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~601284~-","ACVRL1"]
["ACY1","Aminoacylase I deficiency","Aminoacylase I deficiency","Autosomal Recessive","Aminoacylase I deficiency:Autosomal Recessive","Aminoacylase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=95[geneid]~-~104620~-","ACY1"]
["ADA","Adenosine deaminase deficiency","Adenosine deaminase deficiency","Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1483~608958~-","ADA"]
["ADA","Adenosine deaminase deficiency & combined immune deficiency","Adenosine deaminase deficiency;Combined immunodeficiency disease","Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1483~608958~-","ADA"]
["ADA","Adenosine deaminase deficiency / severe combined immunodeficiency","Adenosine deaminase deficiency;Severe combined immunodeficiency disease","Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1483~608958~-","ADA"]
["ADA","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1483~608958~-","ADA"]
["ADA","Immunodeficiency, severe combined, atypical","Severe combined immunodeficiency disease","Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1483~608958~-","ADA"]
["ADA","Inherited metabolic disease","Metabolic disease","Risk","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Adenosine deaminase deficiency:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1483~608958~-","ADA"]
["ADAM10","Alzheimer disease, late onset","Alzheimer Disease","Risk","Reticulate acropigmentation of Kitamura:Autosomal Dominant","Reticulate acropigmentation of Kitamura:Autosomal Dominant","HIGH","-~-~602192~-","ADAM10"]
["ADAM10","Reticulate acropigmentation of Kitamura","Reticulate acropigmentation of Kitamura","Autosomal Dominant","Reticulate acropigmentation of Kitamura:Autosomal Dominant","Reticulate acropigmentation of Kitamura:Autosomal Dominant","HIGH","-~-~602192~-","ADAM10"]
["ADAM17","Inflammatory skin & bowel disease","Inflammatory bowel disease;Disorder of skin;Myocarditis","Autosomal Recessive","Inflammatory skin and bowel disease, neonatal:Autosomal Recessive$Inflammatory bowel disease:Autosomal Recessive","Inflammatory bowel disease:Autosomal Recessive","HIGH","-~-~603639~-","ADAM17"]
["ADAM19","Dense deposit disease","Mesangiocapillary glomerulonephritis, type II","Risk","Mesangiocapillary glomerulonephritis, type II:Risk","Mesangiocapillary glomerulonephritis, type II:Risk","HIGH","-~-~603640~-","ADAM19"]
["ADAM22","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603709~-","ADAM22"]
["ADAM33","Autism","Autistic Disorder","Risk","Asthma:Risk","Asthma:Risk","HIGH","-~-~607114~-","ADAM33"]
["ADAM9","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive","HIGH","-~-~602713~-","ADAM9"]
["ADAMTS10","Weill-Marchesani syndrome","Weill-Marchesani syndrome","Autosomal Recessive","Weill-Marchesani syndrome:Autosomal Recessive","Weill-Marchesani syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81794[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114~608990~-","ADAMTS10"]
["ADAMTS17","Weill-Marchesani-like syndrome","Weill-Marchesani-Like Syndrome","Autosomal Recessive","Weill-Marchesani-Like Syndrome:Autosomal Recessive","Weill-Marchesani-Like Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170691[geneid]~-~607511~-","ADAMTS17"]
["ADAMTS18","Knobloch syndrome","Knobloch Syndrome Type II","Autosomal Recessive","Microcornea, Myopic chorioretinal atrophy, Telecanthus and Posteriorly rotated ear:Autosomal Recessive","Microcornea, Myopic chorioretinal atrophy, Telecanthus and Posteriorly rotated ear:Autosomal Recessive","HIGH","-~-~607512~-","ADAMTS18"]
["ADAMTS2","Ehlers-Danlos syndrome VIIc","Ehlers-Danlos syndrome, procollagen proteinase deficient","Autosomal Recessive","Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","-~-~604539~-","ADAMTS2"]
["ADAMTSL2","Geleophysic dysplasia","Geleophysic dysplasia","Autosomal Recessive","Geleophysic dysplasia:Autosomal Recessive","Geleophysic dysplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK11168~612277~-","ADAMTSL2"]
["ADAMTSL4","Ectopia lentis et pupillae","Ectopia lentis et pupillae","Autosomal Recessive","Ectopia Lentis, Isolated, Autosomal Recessive:Autosomal Recessive$Ectopia Lentis, Isolated:Autosomal Recessive$Ectopia lentis et pupillae:Autosomal Recessive","Ectopia Lentis, Isolated:Autosomal Recessive$Ectopia lentis et pupillae:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54507[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84111~610113~-","ADAMTSL4"]
["ADAMTSL4","Ectopia lentis, isolated form","Congenital ectopic lens","Autosomal Recessive","Ectopia Lentis, Isolated, Autosomal Recessive:Autosomal Recessive$Ectopia Lentis, Isolated:Autosomal Recessive$Ectopia lentis et pupillae:Autosomal Recessive","Ectopia Lentis, Isolated:Autosomal Recessive$Ectopia lentis et pupillae:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54507[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84111~610113~-","ADAMTSL4"]
["ADAR","Aicardi Goutieres syndrome","Aicardi Goutieres syndrome","Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Dominant$Aicardi Goutieres syndrome:Autosomal Recessive$Symmetrical dyschromatosis of extremities:Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Dominant$Aicardi Goutieres syndrome:Autosomal Recessive$Symmetrical dyschromatosis of extremities:Autosomal Dominant","HIGH","-~-~146920~-","ADAR"]
["ADAR","Aicardi Goutieres syndrome","Aicardi Goutieres syndrome","Autosomal Recessive","Aicardi Goutieres syndrome:Autosomal Dominant$Aicardi Goutieres syndrome:Autosomal Recessive$Symmetrical dyschromatosis of extremities:Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Dominant$Aicardi Goutieres syndrome:Autosomal Recessive$Symmetrical dyschromatosis of extremities:Autosomal Dominant","HIGH","-~-~146920~-","ADAR"]
["ADAR","Dyschromatosis symmetrica hereditaria","Symmetrical dyschromatosis of extremities","Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Dominant$Aicardi Goutieres syndrome:Autosomal Recessive$Symmetrical dyschromatosis of extremities:Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Dominant$Aicardi Goutieres syndrome:Autosomal Recessive$Symmetrical dyschromatosis of extremities:Autosomal Dominant","HIGH","-~-~146920~-","ADAR"]
["ADCY10","Asthenozoospermia","Asthenozoospermia","Risk","Familial idiopathic hypercalciuria:Risk","Familial idiopathic hypercalciuria:Risk","HIGH","-~-~605205~-","ADCY10"]
["ADCY5","Autism","Autistic Disorder","Risk","Orofacial dyskinesia:Autosomal Dominant","Orofacial dyskinesia:Autosomal Dominant","HIGH","-~-~600293~-","ADCY5"]
["ADCY5","Dyskinesia with facial myokymia","Orofacial dyskinesia","Autosomal Dominant","Orofacial dyskinesia:Autosomal Dominant","Orofacial dyskinesia:Autosomal Dominant","HIGH","-~-~600293~-","ADCY5"]
["ADH1A","Increased expression","Fetal Alcohol Effects","Risk ","Fetal Alcohol Syndrome:Risk","Fetal Alcohol Syndrome:Risk","HIGH","-~-~103700~-","ADH1A"]
["ADH1A","Increased expression","Fetal Alcohol Syndrome","Risk ","Fetal Alcohol Syndrome:Risk","Fetal Alcohol Syndrome:Risk","HIGH","-~-~103700~-","ADH1A"]
["ADH1B","Alcohol dehydrogenase beta variant ","Alcohol Dependence;Alcohol-Related Aerodigestive Tract Cancer","Decreased Risk","Alcohol Dependence:Decreased Risk$Alcohol-Related Aerodigestive Tract Cancer:Decreased Risk","Alcohol Dependence:Decreased Risk$Alcohol-Related Aerodigestive Tract Cancer:Decreased Risk","HIGH","-~-~103720~-","ADH1B(ADH1A)"]
["ADH1C","Alcohol dehydrogenase gamma variant","Alcohol Dependence","Decreased Risk","Alcohol Dependence:Decreased Risk","Alcohol Dependence:Decreased Risk","HIGH","-~-~103730~-","ADH1C"]
["ADH4","Decreased protein stability","Alcohol Dependence","Risk ","Alcohol Dependence:Decreased Risk","Alcohol Dependence:Decreased Risk","HIGH","-~-~103740~-","ADH4"]
["ADH5","Reduced transcription","Impaired Formaldehyde Metabolism","Risk","Impaired Formaldehyde Metabolism:Risk","Impaired Formaldehyde Metabolism:Risk","HIGH","-~-~103710~-","ADH5"]
["ADIPOQ","Adiponectin deficiency","Hypoadiponectinemia","Risk","Adiponectin Deficiency:Risk","Adiponectin Deficiency:Risk","HIGH","-~-~605441~-","ADIPOQ"]
["ADIPOQ","Diabetes, type 2","Diabetes mellitus type 2","Risk","Adiponectin Deficiency:Risk","Adiponectin Deficiency:Risk","HIGH","-~-~605441~-","ADIPOQ"]
["ADIPOR1","Altered gene expression","Diabetes mellitus type 2","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~607945~-","ADIPOR1"]
["ADIPOR1","Altered gene expression","NULL",null,"NULL","NULL","HIGH","-~-~607945~-","ADIPOR1"]
["ADK","Hypermethioninaemia","Hypermethioninemia","Autosomal Recessive","Hypermethioninemia:Autosomal Recessive","Hypermethioninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=132[geneid]~-~102750~-","ADK"]
["ADK","Intellectual disability","Intellectual Disability","Risk","Hypermethioninemia:Autosomal Recessive","Hypermethioninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=132[geneid]~-~102750~-","ADK"]
["ADNP","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611386~-","ADNP"]
["ADORA3","Increased transcription factor binding affinity","Aspirin-induced angioedema-urticaria","Pharmacogenetic","Angioedema:Pharmacogenetic","Angioedema:Pharmacogenetic","HIGH","-~-~600445~-","ADORA3"]
["ADORA3","Increased transcription factor binding affinity","NULL",null,"NULL","NULL","HIGH","-~-~600445~-","ADORA3"]
["ADRA1A","Altered antagonist binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~104221~-","ADRA1A"]
["ADRA1A","Decreased binding affinity","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~104221~-","ADRA1A"]
["ADRA1A","Increased receptor signalling","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~104221~-","ADRA1A"]
["ADRB1","Gain of function","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=153[geneid]~-~109630~-","ADRB1"]
["ADRB2","Eczema, atopic","Atopic dermatitis","Autosomal Recessive","Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=154[geneid]~-~109690~-","ADRB2"]
["ADSL","Adenylosuccinate lyase deficiency","Adenylosuccinate lyase deficiency","Autosomal Recessive","Adenylosuccinate lyase deficiency:Autosomal Recessive","Adenylosuccinate lyase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=158[geneid]~-~608222~-","ADSL"]
["ADSL","Mental retardation / autism","Mental retardation;Autistic disorder","Autosomal Recessive","Adenylosuccinate lyase deficiency:Autosomal Recessive","Adenylosuccinate lyase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=158[geneid]~-~608222~-","ADSL"]
["AFF2","Autism","Autistic Disorder","Risk","FRAXE:X-linked Recessive","FRAXE:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2334[geneid]~-~300806~-","AFF2"]
["AFF2","Autism spectrum disorder","Autistic Disorder","Risk","FRAXE:X-linked Recessive","FRAXE:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2334[geneid]~-~300806~-","AFF2"]
["AFG3L2","Spastic ataxia-neuropathy syndrome","Ataxia, Spastic, 3, Autosomal Recessive","Autosomal Recessive","Spastic Ataxia:Autosomal Recessive$Spinocerebellar ataxia 28:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spastic Ataxia:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK54582~604581~-","AFG3L2"]
["AFG3L2","Spinocerebellar ataxia 28","Spinocerebellar ataxia 28","Autosomal Dominant","Spastic Ataxia:Autosomal Recessive$Spinocerebellar ataxia 28:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spastic Ataxia:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK54582~604581~-","AFG3L2"]
["AFP","Alpha-fetoprotein deficiency","AFP deficiency, congenital","Autosomal Recessive","Hereditary persistence of alpha-fetoprotein:Autosomal Dominant$AFP deficiency, congenital:Autosomal Dominant","Hereditary persistence of alpha-fetoprotein:Autosomal Dominant","HIGH","-~-~104150~-","AFP"]
["AFP","Hereditary persistence of alpha-fetoprotein","Hereditary persistence of alpha-fetoprotein","Autosomal Dominant","Hereditary persistence of alpha-fetoprotein:Autosomal Dominant$AFP deficiency, congenital:Autosomal Dominant","Hereditary persistence of alpha-fetoprotein:Autosomal Dominant","HIGH","-~-~104150~-","AFP"]
["AGA","Aspartylglucosaminuria","Aspartylglucosaminuria","Autosomal Recessive","Aspartylglucosaminuria:Autosomal Recessive","Aspartylglucosaminuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=175[geneid]~-~613228~-","AGA"]
["AGGF1","Klippel-Trenaunay syndrome","Klippel-Trenaunay-Weber Syndrome","Autosomal Dominant","Klippel-Trenaunay-Weber Syndrome:Autosomal Dominant","Klippel-Trenaunay-Weber Syndrome:Autosomal Dominant","HIGH","-~-~608464~-","AGGF1"]
["AGK","Autism","Autistic Disorder","Risk","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55750[geneid]~-~610345~-","AGK"]
["AGK","Cataract & cardiomyopathy","Cataract and cardiomyopathy ;Depletion of mitochondrial DNA","Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55750[geneid]~-~610345~-","AGK"]
["AGK","Cataract, congenital, Autosomal Recessive","Congenital cataract","Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55750[geneid]~-~610345~-","AGK"]
["AGK","Mitochondrial DNA depletion syndrome, myopathic","Depletion of mitochondrial DNA","Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55750[geneid]~-~610345~-","AGK"]
["AGK","Sengers syndrome","Cataract and cardiomyopathy ","Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","Cataract:Autosomal Recessive$Cataract and cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55750[geneid]~-~610345~-","AGK"]
["AGL","Glycogen storage disease 3","Glycogen storage disease, type III","Autosomal Recessive","Glycogen storage disease, type III:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26372~610860~-","AGL"]
["AGL","Glycogen storage disease 3a","Glycogen storage disease, type III","Autosomal Recessive","Glycogen storage disease, type III:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26372~610860~-","AGL"]
["AGL","Glycogen storage disease 3c","Glycogen storage disease, type III","Autosomal Recessive","Glycogen storage disease, type III:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26372~610860~-","AGL"]
["AGL","Glycogen storage disease 3d","Glycogen storage disease, type III","Autosomal Recessive","Glycogen storage disease, type III:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26372~610860~-","AGL"]
["AGPAT2","Berardinelli-Seip lipodystrophy","Familial generalized lipodystrophy","Autosomal Recessive","Generalized lipodystrophy:Autosomal Recessive","Generalized lipodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10555[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212~603100~-","AGPAT2"]
["AGPAT2","Lipodystrophy, congenital generalized","Familial generalized lipodystrophy","Autosomal Recessive","Generalized lipodystrophy:Autosomal Recessive","Generalized lipodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10555[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212~603100~-","AGPAT2"]
["AGPS","Alkyl-DHAP synthase deficiency","Rhizomelic chondrodysplasia punctata, type 3","Autosomal Recessive","Rhizomelic chondrodysplasia punctata, type 3:Autosomal Recessive$Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8540[geneid]~-~603051~-","AGPS"]
["AGPS","Rhizomelic chondrodysplasia punctata, type 3","Rhizomelic chondrodysplasia punctata, type 4","Autosomal Recessive","Rhizomelic chondrodysplasia punctata, type 3:Autosomal Recessive$Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8540[geneid]~-~603051~-","AGPS"]
["AGRN","Congenital myasthenic syndrome","Familial infantile myasthenia","Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=375790[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~103320~-","AGRN"]
["AGRN","Myasthenia","Familial infantile myasthenia","Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=375790[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~103320~-","AGRN"]
["AGT","Hypertension","Essential hypertension","Autosomal Recessive","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=183[geneid]~-~106150~-","AGT"]
["AGT","Preeclampsia","Pre-eclampsia","Autosomal Dominant","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=183[geneid]~-~106150~-","AGT"]
["AGT","Reduced angiotensinogen levels","Angiotensinogen, reduced level","Autosomal Dominant","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=183[geneid]~-~106150~-","AGT"]
["AGT","Renal tubular dysgenesis","Renal dysplasia","Autosomal Recessive","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=183[geneid]~-~106150~-","AGT"]
["AGTR1","Reduced function","Drug Response","Pharmacogenetic","Essential hypertension:Autosomal Dominant$Renal tubular dysgenesis:Autosomal Recessive","Essential hypertension:Autosomal Dominant$Renal tubular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=185[geneid]~-~106165~-","AGTR1"]
["AGTR1","Renal tubular dysgenesis","Renal dysplasia","Autosomal Recessive","Essential hypertension:Autosomal Dominant$Renal tubular dysgenesis:Autosomal Recessive","Essential hypertension:Autosomal Dominant$Renal tubular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=185[geneid]~-~106165~-","AGTR1"]
["AGTR2","Increased glomerular filtration rate, in males","Diabetic renal disease","Risk","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=186[geneid]~-~300034~-","AGTR2"]
["AGTR2","Mental retardation, pervasive developmental disorder, and epilepsy","Mental retardation;Pervasive developmental disorder;Epilepsy","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=186[geneid]~-~300034~-","AGTR2"]
["AGTR2","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=186[geneid]~-~300034~-","AGTR2"]
["AGXT","Hyperoxaluria","Primary hyperoxaluria, type 1","Autosomal Recessive","Primary hyperoxaluria, type 1:Autosomal Recessive$Primary hyperoxaluria:Autosomal Recessive","Primary hyperoxaluria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=189[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1283~604285~-","AGXT"]
["AGXT2","Autism spectrum disorder","Autistic Disorder","Risk","Hyper-Beta-Aminoisobutyric Aciduria:Autosomal Recessive","Hyper-Beta-Aminoisobutyric Aciduria:Autosomal Recessive","HIGH","-~-~612471~-","AGXT2"]
["AGXT2","Hyper-beta-aminoisobutyric aciduria","Hyper-Beta-Aminoisobutyric Aciduria","Autosomal Recessive","Hyper-Beta-Aminoisobutyric Aciduria:Autosomal Recessive","Hyper-Beta-Aminoisobutyric Aciduria:Autosomal Recessive","HIGH","-~-~612471~-","AGXT2"]
["AHCY","Altered DNA binding","Drug Response","Pharmacogenetic","Hypermethioninemia:Autosomal Recessive","Hypermethioninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=191[geneid]~-~180960~-","AHCY"]
["AHCY","Reduced transcription","Drug Response","Pharmacogenetic","Hypermethioninemia:Autosomal Recessive","Hypermethioninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=191[geneid]~-~180960~-","AHCY"]
["AHCY","S-adenosylhomocysteine hydrolase deficiency","Hypermethioninemia","Autosomal Recessive","Hypermethioninemia:Autosomal Recessive","Hypermethioninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=191[geneid]~-~180960~-","AHCY"]
["AHI1","Joubert syndrome","Joubert syndrome 3","Autosomal Recessive","Joubert syndrome 3:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54806[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~608894~-","AHI1"]
["AHI1","Joubert syndrome, modifier of","Familial aplasia of the vermis","Modifier","Joubert syndrome 3:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54806[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~608894~-","AHI1"]
["AHI1","Molar tooth sign & superior vermian dysplasia","Encephalopathy;Hypotonia;Ataxia;Leber's amaurosis","Autosomal Recessive","Joubert syndrome 3:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54806[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~608894~-","AHI1"]
["AHNAK2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608570~-","AHNAK2"]
["AHRR","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606517~-","AHRR"]
["AICDA","Hyper-IgM syndrome","Hyperimmunoglobulin M syndrome","Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive$Hyper-IgM Immunodeficiency Syndrome, Type 2:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","-~-~605257~-","AICDA"]
["AICDA","Hyper-IgM syndrome, type 2","Hyper-IgM Immunodeficiency Syndrome, Type 2","Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive$Hyper-IgM Immunodeficiency Syndrome, Type 2:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","-~-~605257~-","AICDA"]
["AIFM1","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease","X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive$Cowchock syndrome:X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9131[geneid]~-~300169~-","AIFM1"]
["AIFM1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive$Cowchock syndrome:X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9131[geneid]~-~300169~-","AIFM1"]
["AIFM1","Cowchock syndrome","Cowchock syndrome","X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive$Cowchock syndrome:X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9131[geneid]~-~300169~-","AIFM1"]
["AIFM1","Mitochondrial encephalomyopathy, X-linked","Mitochondrial encephalomyopathy","X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive$Cowchock syndrome:X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9131[geneid]~-~300169~-","AIFM1"]
["AIFM1","Ventriculomegaly, prenatal","Cerebral ventriculomegaly","X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive$Cowchock syndrome:X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Charcot-Marie-Tooth disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9131[geneid]~-~300169~-","AIFM1"]
["AIMP1","Pelizaeus-Merzbacher-like disease","Pelizaeus-Merzbacher disease","Autosomal Recessive","Pelizaeus-Merzbacher disease:Autosomal Recessive","Pelizaeus-Merzbacher disease:Autosomal Recessive","HIGH","-~-~603605~-","AIMP1"]
["AIP","Acromegaly","Acromegaly","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Gigantism","Gigantism","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Macroadenoma","Macroprolactinoma","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Non-secreting adenoma","Pituitary adenoma, non-secreting","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Pituitary adenoma","Pituitary adenoma","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Pituitary tumours","Pituitary adenoma","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Prolactinoma","Prolactinoma","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Somatotropinoma","Somatotrophinoma, Familial","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIP","Somatotropinoma, pediatric","Somatotrophinoma, Familial","Autosomal Recessive","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","Corticotroph adenoma:Autosomal Dominant$Somatotroph adenoma:Autosomal Dominant$Prolactinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97965~605555~-","AIP"]
["AIPL1","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Leber Congenital Amaurosis 4:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604392~-","AIPL1"]
["AIPL1","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber Congenital Amaurosis 4:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604392~-","AIPL1"]
["AIPL1","Leber congenital amaurosis IV","Leber Congenital Amaurosis 4","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber Congenital Amaurosis 4:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604392~-","AIPL1"]
["AIPL1","Retinal degeneration, late-onset","Retinitis pigmentosa","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Leber Congenital Amaurosis 4:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604392~-","AIPL1"]
["AIRE","Addison disease with autoimmune thyroiditis","Addison's disease with Autoimmune thyroiditis","Autosomal Dominant","Polyglandular autoimmune syndrome, type 1:Autosomal Recessive$Autoimmune polyendocrinopathy:Autosomal Recessive","Autoimmune polyendocrinopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326[geneid]~-~607358~-","AIRE"]
["AIRE","APECED","Polyglandular autoimmune syndrome, type 1","Autosomal Recessive","Polyglandular autoimmune syndrome, type 1:Autosomal Recessive$Autoimmune polyendocrinopathy:Autosomal Recessive","Autoimmune polyendocrinopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326[geneid]~-~607358~-","AIRE"]
["AIRE","Autoimmune hepatitis 2","Autoimmune hepatitis","Autosomal Dominant","Polyglandular autoimmune syndrome, type 1:Autosomal Recessive$Autoimmune polyendocrinopathy:Autosomal Recessive","Autoimmune polyendocrinopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326[geneid]~-~607358~-","AIRE"]
["AIRE","Autoimmune polyglandular syndrome type 1","Polyglandular autoimmune syndrome, type 1","Autosomal Recessive","Polyglandular autoimmune syndrome, type 1:Autosomal Recessive$Autoimmune polyendocrinopathy:Autosomal Recessive","Autoimmune polyendocrinopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326[geneid]~-~607358~-","AIRE"]
["AIRE","Hypoparathyroidism without APECED","Hypoparathyroidism without Polyglandular autoimmune syndrome, type 1","Autosomal Dominant","Polyglandular autoimmune syndrome, type 1:Autosomal Recessive$Autoimmune polyendocrinopathy:Autosomal Recessive","Autoimmune polyendocrinopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326[geneid]~-~607358~-","AIRE"]
["AIRE","Systemic sclerosis with autoimmune thyroiditis","Systemic sclerosis with Autoimmune thyroiditis","Autosomal Recessive","Polyglandular autoimmune syndrome, type 1:Autosomal Recessive$Autoimmune polyendocrinopathy:Autosomal Recessive","Autoimmune polyendocrinopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326[geneid]~-~607358~-","AIRE"]
["AK1","Adenylate kinase deficiency","Hemolytic anemia","Autosomal Recessive","Hemolytic anemia:Autosomal Recessive","Hemolytic anemia:Autosomal Recessive","HIGH","-~-~103000~-","AK1"]
["AK2","Reticular dysgenesia","Reticular dysgenesis","Autosomal Recessive","Reticular dysgenesis:Autosomal Recessive","Reticular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=204[geneid]~-~103020~-","AK2"]
["AKAP13","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604686~-","AKAP13"]
["AKAP9","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10142[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~604001~-","AKAP9"]
["AKAP9","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10142[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~604001~-","AKAP9"]
["AKR1B1","Diabetes mellitus, without diabetic complications","Diabetic complication","Decreased Risk","Diabetic complication:Decreased Risk","Diabetic complication:Decreased Risk","HIGH","-~-~103880~-","AKR1B1"]
["AKR1B1","Diabetes mellitus, without diabetic complications","Diabetic neuropathy with neurologic complication","Decreased Risk","Diabetic complication:Decreased Risk","Diabetic complication:Decreased Risk","HIGH","-~-~103880~-","AKR1B1"]
["AKR1C2","Disorder of sexual development, in males","Disorders of Sex Development in males","Autosomal Recessive","Disorders of Sex Development in males:Autosomal Recessive","Disorders of Sex Development in males:Autosomal Recessive","HIGH","-~-~600450~-","AKR1C2"]
["AKR1C4","Disorder of sexual development, in males","Disorders of Sex Development in males","Autosomal Recessive","Disorders of Sex Development in males:Autosomal Recessive","Disorders of Sex Development in males:Autosomal Recessive","HIGH","-~-~600451~-","AKR1C4"]
["AKR1D1","3-oxo-Delta","Intrahepatic cholestasis","Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6718[geneid]~-~604741~-","AKR1D1"]
["AKR1D1","Cholestatic liver disease in infancy","Intrahepatic cholestasis","Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6718[geneid]~-~604741~-","AKR1D1"]
["AKT1","Cowden / Cowden-like syndrome","Cowden syndrome","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Colorectal Cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Proteus syndrome:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Colorectal Cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Proteus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=207[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99495~164730~-","AKT1"]
["AKT2","Hypoglycaemia","Hypoinsulinemic hypoglycemia","Autosomal Dominant","Diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Hypoinsulinemic hypoglycemia:Autosomal Dominant","Diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Hypoinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=208[geneid]~-~164731~-","AKT2"]
["AKT2","Severe insulin resistance and diabetes mellitus","Insulin resistance in diabetes;Diabetes mellitus","Autosomal Recessive","Diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Hypoinsulinemic hypoglycemia:Autosomal Dominant","Diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Hypoinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=208[geneid]~-~164731~-","AKT2"]
["AKT3","Megalencephaly-capillary malformation / megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome","Autosomal Dominant","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant","HIGH","-~-~611223~-","AKT3"]
["AKT3","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome","Autosomal Dominant","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant","HIGH","-~-~611223~-","AKT3"]
["ALAD","ALAD deficiency","Porphobilinogen synthase deficiency","Autosomal Recessive","Porphobilinogen synthase deficiency:Autosomal Recessive","Porphobilinogen synthase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=210[geneid]~-~125270~-","ALAD"]
["ALAD","Porphyria, acute intermittent","Porphobilinogen synthase deficiency","Autosomal Recessive","Porphobilinogen synthase deficiency:Autosomal Recessive","Porphobilinogen synthase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=210[geneid]~-~125270~-","ALAD"]
["ALAS2","Porphyria, erythropoietic, modifier of","Congenital erythropoietic porphyria","X-linked Dominant","X chromosome-linked pyridoxine responsive sideroblastic anemia:X-linked Recessive$Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=212[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK121284~301300~-","ALAS2"]
["ALAS2","Porphyria, X-linked without anaemia/iron overload","Erythropoietic protoporphyria","X-linked Dominant","X chromosome-linked pyridoxine responsive sideroblastic anemia:X-linked Recessive$Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=212[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK121284~301300~-","ALAS2"]
["ALAS2","Protoporphyria","Erythropoietic protoporphyria","X-linked Dominant","X chromosome-linked pyridoxine responsive sideroblastic anemia:X-linked Recessive$Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=212[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK121284~301300~-","ALAS2"]
["ALAS2","Severe iron overload","Iron overload","Modifier","X chromosome-linked pyridoxine responsive sideroblastic anemia:X-linked Recessive$Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=212[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK121284~301300~-","ALAS2"]
["ALAS2","Sideroblastic anaemia","X chromosome-linked pyridoxine responsive sideroblastic anemia","X-linked Recessive","X chromosome-linked pyridoxine responsive sideroblastic anemia:X-linked Recessive$Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=212[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK121284~301300~-","ALAS2"]
["ALAS2","Sideroblastic anaemia, X-linked","X chromosome-linked pyridoxine responsive sideroblastic anemia","X-linked Recessive","X chromosome-linked pyridoxine responsive sideroblastic anemia:X-linked Recessive$Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","Congenital erythropoietic porphyria:X-linked dominant$Sideroblastic anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=212[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK121284~301300~-","ALAS2"]
["ALB","Albumin variant","Alloalbumin","Autosomal Dominant","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","HIGH","-~-~103600~-","ALB"]
["ALB","Analbuminaemia","Analbuminemia","Autosomal Recessive","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","HIGH","-~-~103600~-","ALB"]
["ALB","Bisalbuminaemia","Bisalbuminemia","Autosomal Dominant","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","HIGH","-~-~103600~-","ALB"]
["ALB","Dysalbuminaemic hyperthyroxinaemia, familial","Familial dysalbuminemic hyperthyroxinemia","Autosomal Dominant","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","Analbuminemia:Autosomal Recessive$Familial dysalbuminemic hyperthyroxinemia:Autosomal Dominant","HIGH","-~-~103600~-","ALB"]
["ALDH18A1","Cutis laxa with progeroid features","Cutis Laxa, Autosomal Recessive, Type IIB","Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5832[geneid]~-~138250~-","ALDH18A1"]
["ALDH18A1","Cutis laxa, Autosomal Recessive, type 3A","Cutis laxa, Autosomal Recessive","Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5832[geneid]~-~138250~-","ALDH18A1"]
["ALDH18A1","Hyperammonaemia","Hyperammonemia","Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5832[geneid]~-~138250~-","ALDH18A1"]
["ALDH18A1","Neurocutaneous syndrome, Autosomal Recessive","Neurocutaneous syndrome","Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","de Barsy syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5832[geneid]~-~138250~-","ALDH18A1"]
["ALDH1A2","Tetralogy of Fallot","Congenital Heart Disease (CHD);Tetralogy of Fallot","Risk","Congenital Heart Disease (CHD):Risk","Congenital heart disease:Risk","HIGH","-~-~603687~-","ALDH1A2"]
["ALDH1A3","Anophthalmia and microphthalmia","Microphthalmos","Autosomal Recessive","Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~-~600463~-","ALDH1A3"]
["ALDH2","Increased transcription","Alcoholism","Risk","Alcoholism:Risk","Alcoholism:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=217[geneid]~-~100650~-","ALDH2"]
["ALDH3A2","Sjoegren-Larsson syndrome","Sjoegren-Larsson syndrome","Autosomal Recessive","Sjogren-Larsson syndrome:Autosomal Recessive","Sjogren-Larsson syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=224[geneid]~-~609523~-","ALDH3A2"]
["ALDH4A1","Hyperprolinaemia 2","Hyperprolinemia","Autosomal Recessive","Hyperprolinemia:Autosomal Recessive","Hyperprolinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8659[geneid]~-~606811~-","ALDH4A1"]
["ALDH5A1","SSADH deficiency & incomplete WAGR syndrome with obesity","Succinate-semialdehyde dehydrogenase deficiency;Obesity","Autosomal Recessive","Succinate-semialdehyde dehydrogenase deficiency:Autosomal Recessive","Succinate-semialdehyde dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7915[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1195~610045~-","ALDH5A1"]
["ALDH5A1","SSADH deficiency with D-2-hydroxyglutaric aciduria","Succinate-semialdehyde dehydrogenase deficiency","Autosomal Recessive","Succinate-semialdehyde dehydrogenase deficiency:Autosomal Recessive","Succinate-semialdehyde dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7915[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1195~610045~-","ALDH5A1"]
["ALDH5A1","Succinic semialdehyde dehydrogenase deficiency","Succinate-semialdehyde dehydrogenase deficiency","Autosomal Recessive","Succinate-semialdehyde dehydrogenase deficiency:Autosomal Recessive","Succinate-semialdehyde dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7915[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1195~610045~-","ALDH5A1"]
["ALDH6A1","3-hydroxyisobutyric aciduria","3-Hydroxyisobutyric aciduria","Autosomal Recessive","3-Hydroxyisobutyric aciduria:Autosomal Recessive","3-Hydroxyisobutyric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4329[geneid]~-~603178~-","ALDH6A1"]
["ALDH6A1","MMSDH deficiency","3-Hydroxyisobutyric aciduria","Autosomal Recessive","3-Hydroxyisobutyric aciduria:Autosomal Recessive","3-Hydroxyisobutyric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4329[geneid]~-~603178~-","ALDH6A1"]
["ALDH7A1","Alpha-AASA dehydrogenase deficiency","Epilepsy, pyridoxine-dependent","Autosomal Recessive","Epilepsy, pyridoxine-dependent:Autosomal Recessive","Epilepsy, pyridoxine-dependent:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=501[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1486~107323~-","ALDH7A1"]
["ALDH7A1","Epilepsy, pyridoxine-dependent","Epilepsy, pyridoxine-dependent","Autosomal Recessive","Epilepsy, pyridoxine-dependent:Autosomal Recessive","Epilepsy, pyridoxine-dependent:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=501[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1486~107323~-","ALDH7A1"]
["ALDH7A1","Seizures, folinic-acid responsive","Seizure","Autosomal Recessive","Epilepsy, pyridoxine-dependent:Autosomal Recessive","Epilepsy, pyridoxine-dependent:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=501[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1486~107323~-","ALDH7A1"]
["ALDOA","Aldolase A deficiency","Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency","Autosomal Recessive","Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency:Autosomal Recessive$Hereditary nonspherocytic hemolytic anemia:Autosomal Recessive","Hereditary nonspherocytic hemolytic anemia:Autosomal Recessive","HIGH","-~-~103850~-","ALDOA"]
["ALDOA","Metabolic myopathy / haemolysis","Metabolic myopathy;Hemolysis","Autosomal Recessive","Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency:Autosomal Recessive$Hereditary nonspherocytic hemolytic anemia:Autosomal Recessive","Hereditary nonspherocytic hemolytic anemia:Autosomal Recessive","HIGH","-~-~103850~-","ALDOA"]
["ALDOB","Fructose intolerance","Fructose-1,6-bisphosphate aldolase B deficiency","Autosomal Recessive","Fructose-1,6-bisphosphate aldolase B deficiency:Autosomal Recessive","Fructose-1,6-bisphosphate aldolase B deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=229[geneid]~-~612724~-","ALDOB"]
["ALG1","Congenital disorder of glycosylation 1k","Congenital disorder of glycosylation type 1K","Autosomal Recessive","Congenital disorder of glycosylation type 1K:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56052[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~605907~-","ALG1"]
["ALG10B","Acquired long QT syndrome","Acquired long QT syndrome","Risk","Acquired long QT syndrome:Risk","Acquired long QT syndrome:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=144245[geneid]~-~-~-","ALG10B"]
["ALG11","Congenital disorder of glycosylation 1p","Congenital disorder of glycosylation, type Ip","Autosomal Recessive","Congenital disorder of glycosylation, type Ip:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=440138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~613666~-","ALG11"]
["ALG12","Congenital disorder of glycosylation 1g","Congenital disorder of glycosylation, type Ig","Autosomal Recessive","Congenital disorder of glycosylation, type Ig:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79087[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~607144~-","ALG12"]
["ALG13","Congenital disorder of glycosylation 1","Congenital disorder of glycosylation type Ia","X-linked Dominant","Congenital disorder of glycosylation, type Is:X-linked dominant$Carbohydrate-deficient glycoprotein syndrome:X-linked dominant","Congenital disorder of glycosylation, type Is:X-linked dominant$Carbohydrate-deficient glycoprotein syndrome:X-linked dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~300776~-","ALG13"]
["ALG2","Congenital disorder of glycosylation 1i","Congenital disorder of glycosylation, type Ii","Autosomal Recessive","Congenital disorder of glycosylation, type Ii:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=85365[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~607905~-","ALG2"]
["ALG2","Congenital myasthenic syndrome","Familial infantile myasthenia","Autosomal Recessive","Congenital disorder of glycosylation, type Ii:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=85365[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~607905~-","ALG2"]
["ALG3","Congenital disorder of glycosylation 1d","Congenital disorder of glycosylation, type Id","Autosomal Recessive","Congenital disorder of glycosylation, type Id:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10195[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~608750~-","ALG3"]
["ALG6","Congenital disorder of glycosylation 1c","Congenital disorder of glycosylation 1c","Autosomal Recessive","Congenital disorder of glycosylation 1c:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29929[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~604566~-","ALG6"]
["ALG6","Congenital disorder of glycosylation 1c, modifier of","Congenital disorder of glycosylation 1c, incomplete","Autosomal Recessive","Congenital disorder of glycosylation 1c:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29929[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~604566~-","ALG6"]
["ALG8","Congenital disorder of glycosylation 1h","Congenital disorder of glycosylation type 1H","Autosomal Recessive","Congenital disorder of glycosylation type 1H:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79053[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~608103~-","ALG8"]
["ALK","Medulloblastoma","Medulloblastoma","Autosomal Dominant","Neuroblastoma:Autosomal Dominant","Neuroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=238[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK24599~105590~-","ALK"]
["ALK","Neuroblastoma","Neuroblastoma","Autosomal Dominant","Neuroblastoma:Autosomal Dominant","Neuroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=238[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK24599~105590~-","ALK"]
["ALOX12B","Collodian membrane, self-healing","Lamellar ichthyosis","Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~603741~-","ALOX12B"]
["ALOX12B","Ichthyosiform erythroderma","Ichthyosiform erythroderma","Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~603741~-","ALOX12B"]
["ALOX12B","Ichthyosiform erythroderma, nonbullous 1","Congenital non bullous ichthyosiform erythroderma","Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~603741~-","ALOX12B"]
["ALOX12B","Ichthyosis, congenital, Autosomal Recessive","Autosomal Recessive ichthyosis","Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~603741~-","ALOX12B"]
["ALOXE3","Ichthyosiform erythroderma, nonbullous 1","Congenital non bullous ichthyosiform erythroderma","Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607206~-","ALOXE3"]
["ALOXE3","Ichthyosis, congenital, Autosomal Recessive","Autosomal Recessive ichthyosis","Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607206~-","ALOXE3"]
["ALPL","Hypophosphatasia","Hypophosphatasia","Autosomal Recessive","Hypophosphatasia:Autosomal Dominant$Hypophosphatasia:Autosomal Recessive$Odontohypophosphatasia:Autosomal Dominant$Odontohypophosphatasia:Autosomal Recessive","Hypophosphatasia:Autosomal Dominant$Hypophosphatasia:Autosomal Recessive$Odontohypophosphatasia:Autosomal Dominant$Odontohypophosphatasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1150~171760~-","ALPL"]
["ALS2","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57679[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1243~606352~-","ALS2"]
["ALS2","Primary lateral sclerosis, juvenile","Primary lateral sclerosis","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57679[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1243~606352~-","ALS2"]
["ALS2","Spastic paralysis, infantile-onset","Infantile spastic cerebral palsy","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57679[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1243~606352~-","ALS2"]
["ALS2","Spastic paraplegia","Spastic paraplegia","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Primary lateral sclerosis:Autosomal Recessive$Infantile spastic cerebral palsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57679[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1243~606352~-","ALS2"]
["ALS2CR4","Joubert syndrome related disorder","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65062[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~614423~-","TMEM237"]
["ALX1","Microphthalmia with facial clefting","Frontonasal dysplasia sequence","Autosomal Recessive","Frontonasal dysplasia sequence:Autosomal Recessive","Frontonasal dysplasia sequence:Autosomal Recessive","HIGH","-~-~601527~-","ALX1"]
["ALX3","Frontorhiny","Frontonasal dysplasia sequence","Autosomal Recessive","Frontonasal dysplasia sequence:Autosomal Recessive","Frontonasal dysplasia sequence:Autosomal Recessive","HIGH","-~-~606014~-","ALX3"]
["ALX4","Craniosynostosis, nonsymdromic","Craniosynostosis","Autosomal Dominant","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~605420~-","ALX4"]
["ALX4","Foramina parietalia permagna","Craniolacunia","Autosomal Dominant","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~605420~-","ALX4"]
["ALX4","Frontofacial dysostosis syndrome","Crouzon syndrome","Autosomal Recessive","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~605420~-","ALX4"]
["ALX4","Nasal malformations & parietal foramina","Craniolacunia","Autosomal Recessive","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","Frontonasal dysplasia sequence:Autosomal Recessive$Craniolacunia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~605420~-","ALX4"]
["AMACR","Alpha methylacyl CoA racemase deficiency","Alpha-Methylacyl-CoA Racemase Deficiency","Autosomal Recessive","Alpha-Methylacyl-CoA Racemase Deficiency:Autosomal Recessive$Bile acid synthesis defect, congenital, 4:Autosomal Recessive","Bile acid synthesis defect, congenital, 4:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23600[geneid]~-~604489~-","AMACR"]
["AMACR","Altered splicing","NULL","No disease associated","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23600[geneid]~-~604489~-","AMACR"]
["AMACR","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Alpha-Methylacyl-CoA Racemase Deficiency:Autosomal Recessive$Bile acid synthesis defect, congenital, 4:Autosomal Recessive","Bile acid synthesis defect, congenital, 4:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23600[geneid]~-~604489~-","AMACR"]
["AMD1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~180980~-","AMD1"]
["AMELX","Amelogenesis imperfecta","Amelogenesis imperfecta","X-linked Dominant","Amelogenesis imperfecta:X-linked dominant","Amelogenesis imperfecta:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=265[geneid]~-~300391~-","AMELX"]
["AMH","Haematospermia menstruations","Hemospermia","Autosomal Recessive","Persistent Mullerian duct syndrome, type I:Autosomal Recessive with male sex limitation","Persistent Mullerian duct syndrome, type I:Autosomal Recessive with male sex limitation","HIGH","-~-~600957~-","AMH"]
["AMH","Persistent Mullerian ducts syndrome","Persistent Mullerian duct syndrome, type I","Autosomal Recessive","Persistent Mullerian duct syndrome, type I:Autosomal Recessive with male sex limitation","Persistent Mullerian duct syndrome, type I:Autosomal Recessive with male sex limitation","HIGH","-~-~600957~-","AMH"]
["AMHR2","Persistent Mullerian ducts syndrome","Persistent Mullerian duct syndrome, type II","Autosomal Recessive","Persistent Mullerian duct syndrome, type II:Autosomal Recessive with male sex limitation","Persistent Mullerian duct syndrome, type II:Autosomal Recessive with male sex limitation","HIGH","-~-~600956~-","AMHR2"]
["AMN","Imerslund-Grasbeck syndrome","Megaloblastic anemia due to inborn errors of metabolism","Autosomal Recessive","Megaloblastic anemia:Autosomal Recessive","Megaloblastic anemia:Autosomal Recessive","HIGH","-~-~605799~-","AMN"]
["AMN","Megaloblastic anaemia 1","Megaloblastic anemia","Autosomal Recessive","Megaloblastic anemia:Autosomal Recessive","Megaloblastic anemia:Autosomal Recessive","HIGH","-~-~605799~-","AMN"]
["AMPD1","Adenosine monophosphate deaminase deficiency","Deficiency of AMP deaminase;Metabolic myopathy","Risk","Metabolic myopathy:Autosomal Dominant","Metabolic myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=270[geneid]~-~102770~-","AMPD1"]
["AMPD3","Adenosine monophosphate deaminase deficiency","Deficiency of AMP deaminase","Autosomal Recessive","Deficiency of AMP deaminase:Autosomal Recessive","Deficiency of AMP deaminase:Autosomal Recessive","HIGH","-~-~102772~-","AMPD3"]
["AMT","Autism","Autistic Disorder","Risk","Non-ketotic hyperglycinemia:Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=275[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1357~238310~-","AMT"]
["AMT","Hyperglycinaemia, non-ketotic","Non-ketotic hyperglycinemia","Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=275[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1357~238310~-","AMT"]
["AMT","Neural tube defects","Neural tube defect","Risk","Non-ketotic hyperglycinemia:Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=275[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1357~238310~-","AMT"]
["ANG","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~105850~-","ANG"]
["ANG","Amyotrophic lateral sclerosis, modifier of","Amyotrophic lateral sclerosis","Modifier","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~105850~-","ANG"]
["ANG","Parkinson disease","Parkinson's disease","Risk","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~105850~-","ANG"]
["ANG","Spastic paraplegia 5","Hereditary sensory-motor neuropathy, type V","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~105850~-","ANG"]
["ANGPTL3","Higher plasma triglyceride level","Plasma triglyceride level - Higher","Autosomal Dominant","Familial hypobetalipoproteinemia - homozygous form:Autosomal Recessive","Hypobetalipoproteinemia:Autosomal Recessive","HIGH","-~-~604774~-","ANGPTL3"]
["ANGPTL3","Hypobetalipoproteinaemia","Familial hypobetalipoproteinemia - homozygous form","Autosomal Recessive","Familial hypobetalipoproteinemia - homozygous form:Autosomal Recessive","Hypobetalipoproteinemia:Autosomal Recessive","HIGH","-~-~604774~-","ANGPTL3"]
["ANGPTL3","Hypolipidaemia, combined","Hypolipidemia","Autosomal Recessive","Familial hypobetalipoproteinemia - homozygous form:Autosomal Recessive","Hypobetalipoproteinemia:Autosomal Recessive","HIGH","-~-~604774~-","ANGPTL3"]
["ANGPTL3","Lower plasma triglyceride level","Plasma triglyceride level - Lower","Autosomal Dominant","Familial hypobetalipoproteinemia - homozygous form:Autosomal Recessive","Hypobetalipoproteinemia:Autosomal Recessive","HIGH","-~-~604774~-","ANGPTL3"]
["ANGPTL4","Higher plasma triglyceride level","Plasma triglyceride level - Higher","Risk","Plasma triglyceride level:Modifier","Plasma triglyceride level:Modifier","HIGH","-~-~605910~-","ANGPTL4"]
["ANGPTL4","Lower plasma triglyceride level","Plasma triglyceride level - Lower","Risk","Plasma triglyceride level:Modifier","Plasma triglyceride level:Modifier","HIGH","-~-~605910~-","ANGPTL4"]
["ANGPTL5","Lower plasma triglyceride level","Plasma triglyceride level - Lower","Risk","Plasma triglyceride level:Modifier","Plasma triglyceride level:Modifier","HIGH","-~-~607666~-","ANGPTL5"]
["ANK1","Spherocytosis","Spherocytosis","Autosomal Dominant","Spherocytosis:Autosomal Dominant$Spherocytosis:Autosomal Recessive","Spherocytosis:Autosomal Dominant$Spherocytosis:Autosomal Recessive","HIGH","-~-~612641~-","ANK1"]
["ANK1","Spherocytosis","Spherocytosis","Autosomal Recessive","Spherocytosis:Autosomal Dominant$Spherocytosis:Autosomal Recessive","Spherocytosis:Autosomal Dominant$Spherocytosis:Autosomal Recessive","HIGH","-~-~612641~-","ANK1"]
["ANK2","Autism","Autistic Disorder","Risk","Conduction disorder of the heart:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=287[geneid]~-~106410~-","ANK2"]
["ANK2","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Conduction disorder of the heart:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=287[geneid]~-~106410~-","ANK2"]
["ANK2","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Conduction disorder of the heart:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=287[geneid]~-~106410~-","ANK2"]
["ANK3","Autism","Autistic Disorder","Risk","Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=288[geneid]~-~600465~-","ANK3"]
["ANK3","Intellectual disability, ADHD-like syndrome & behavioural problems","Intellectual Disability","Autosomal Recessive","Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=288[geneid]~-~600465~-","ANK3"]
["ANKH","Calcium phosphate disease","Calcium pyrophosphate deposition disease","Autosomal Dominant","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1461~605145~-","ANKH"]
["ANKH","Chondrocalcinosis 2","Chondrocalcinosis","Autosomal Dominant","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1461~605145~-","ANKH"]
["ANKH","Craniometaphyseal dysplasia","Craniometaphyseal dysplasia","Autosomal Dominant","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1461~605145~-","ANKH"]
["ANKH","Mental retardation, deafness, ankylosis & hypophosphatemia","Mental retardation;Deafness;Ankylosis;Hypophosphatemia","Autosomal Recessive","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","Chondrocalcinosis:Autosomal Dominant$Craniometaphyseal dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1461~605145~-","ANKH"]
["ANKK1","Reduced DRD2 receptor density","Behavior, Addictive","Risk","NULL","NULL","HIGH","-~-~608774~-","ANKK1"]
["ANKRD1","Cardiomyopathy, dilated","Dilated cardiomyopathy","Risk","Hypertrophic cardiomyopathy:Risk$Dilated cardiomyopathy:Risk$Anomalous pulmonary venous return$risk","Cardiomyopathy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27063[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~609599~-","ANKRD1"]
["ANKRD1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Risk","Hypertrophic cardiomyopathy:Risk$Dilated cardiomyopathy:Risk$Anomalous pulmonary venous return$risk","Cardiomyopathy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27063[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~609599~-","ANKRD1"]
["ANKRD1","Total anomalous pulmonary venous return","Total anomalous pulmonary venous return","Risk","Hypertrophic cardiomyopathy:Risk$Dilated cardiomyopathy:Risk$Anomalous pulmonary venous return$risk","Cardiomyopathy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27063[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~609599~-","ANKRD1"]
["ANKRD11","KBG syndrome","KBG syndrome","Autosomal Dominant","KBG syndrome:Autosomal Dominant","KBG syndrome:Autosomal Dominant","HIGH","-~-~611192~-","ANKRD11"]
["ANKRD26","Thrombocytopaenia 2","Thrombocytopenia 2","Autosomal Dominant","Thrombocytopenia 2:Autosomal Dominant$Thrombocytopenia:Autosomal Dominant","Thrombocytopenia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22852[geneid]~-~610855~-","ANKRD26"]
["ANKS1A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608994~-","ANKS1A"]
["ANKS6","Polycystic kidney disease","Nephronophthisis","Autosomal Recessive","Nephronophthisis:Autosomal Recessive","Nephronophthisis:Autosomal Recessive","HIGH","-~-~615370~-","ANKS6"]
["ANO10","Cerebellar ataxia, Autosomal Recessive","Cerebellar ataxia","Autosomal Recessive","Cerebellar ataxia:Autosomal Recessive","Cerebellar ataxia:Autosomal Recessive","HIGH","-~-~613726~-","ANO10"]
["ANO3","Craniocervical dystonia","Dystonia","Autosomal Dominant","Dystonia:Autosomal Dominant","Dystonia:Autosomal Dominant","HIGH","-~-~610110~-","ANO3"]
["ANO5","Autism","Autistic Disorder","Risk","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2L:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=203859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114459~608662~-","ANO5"]
["ANO5","Gnathodiaphyseal dysplasia","Gnathodiaphyseal dysplasia","Autosomal Dominant","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2L:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=203859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114459~608662~-","ANO5"]
["ANO5","Miyoshi myopathy, non-dysferlin","Miyoshi myopathy","Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2L:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=203859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114459~608662~-","ANO5"]
["ANO5","Muscular dystrophy","Muscular dystrophy","Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2L:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=203859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114459~608662~-","ANO5"]
["ANO5","Muscular dystrophy, limb girdle 2L","Muscular Dystrophy, Limb-Girdle, Type 2L","Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2L:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=203859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114459~608662~-","ANO5"]
["ANO5","Myopathy / muscular dystrophy","Myopathy;Muscular dystrophy","Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2L:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Gnathodiaphyseal dysplasia:Autosomal Dominant$Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=203859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114459~608662~-","ANO5"]
["ANO6","Scott syndrome","Scott syndrome","Autosomal Recessive","Scott syndrome:Autosomal Recessive","Scott syndrome:Autosomal Recessive","HIGH","-~-~608663~-","ANO6"]
["ANTXR1","Autism","Autistic Disorder","Risk","Odontotrichomelic syndrome:Autosomal Recessive","Odontotrichomelic syndrome:Autosomal Recessive","HIGH","-~-~606410~-","ANTXR1"]
["ANTXR1","GAPO Syndrome","Odontotrichomelic syndrome","Autosomal Recessive","Odontotrichomelic syndrome:Autosomal Recessive","Odontotrichomelic syndrome:Autosomal Recessive","HIGH","-~-~606410~-","ANTXR1"]
["ANTXR1","Haemangioma, infantile","Capillary hemangioma","Autosomal Recessive","Odontotrichomelic syndrome:Autosomal Recessive","Odontotrichomelic syndrome:Autosomal Recessive","HIGH","-~-~606410~-","ANTXR1"]
["ANTXR2","Fibromatosis, hyaline & hyalinosis, systemic","Juvenile hyaline fibromatosis;Infantile systemic hyalinosis","Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=118429[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1525~608041~-","ANTXR2"]
["ANTXR2","Fibromatosis, juvenile hyaline","Juvenile hyaline fibromatosis","Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=118429[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1525~608041~-","ANTXR2"]
["ANTXR2","Hyaline fibromatosis syndrome","Juvenile hyaline fibromatosis","Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=118429[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1525~608041~-","ANTXR2"]
["ANTXR2","Hyalinosis, infantile systemic","Infantile systemic hyalinosis","Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","Juvenile hyaline fibromatosis:Autosomal Recessive$Infantile systemic hyalinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=118429[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1525~608041~-","ANTXR2"]
["AOX1","Increased catalytic efficiency","Amyotrophic Lateral Sclerosis","Autosomal Dominant ","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~602841~7570184","AOX1"]
["AOX1","Reduced catalytic efficiency","Amyotrophic Lateral Sclerosis","Autosomal Dominant ","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~602841~7570185","AOX1"]
["AOX1","Reduced dimerization and catalytic efficiency","Amyotrophic Lateral Sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~602841~7570186","AOX1"]
["AP1S1","MEDNIK syndrome","Mental retardation;Enteropathy;Deafness;Peripheral neuropathy;Ichthyosis;Keratosis","Autosomal Recessive","Erythrokeratodermia variabilis:Autosomal Recessive","Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","-~-~603531~-","AP1S1"]
["AP1S2","Mental retardation","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8905[geneid]~-~300629~-","AP1S2"]
["AP2S1","Hypercalcaemia, hypocalciuric type 3","Familial benign hypercalcemia, type 3","Autosomal Dominant","Familial benign hypercalcemia, type 3:Autosomal Dominant","Familial benign hypercalcemia, type 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1175[geneid]~-~602242~-","AP2S1"]
["AP3B1","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive$Hermansky-Pudlak syndrome 2:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1287~603401~-","AP3B1"]
["AP3B1","Hermansky-Pudlak syndrome type 2","Hermansky Pudlak syndrome 2","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive$Hermansky-Pudlak syndrome 2:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1287~603401~-","AP3B1"]
["AP3B2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602166~-","AP3B2"]
["AP4B1","Intellectual disability, spastic paraplegia & short stature","Intellectual Disability;Spastic paraplegia;Short stature","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10717[geneid]~-~607245~-","AP4B1"]
["AP4E1","Intellectual disability, spastic paraplegia & short stature","Intellectual Disability;Spastic paraplegia;Short stature","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23431[geneid]~-~607244~-","AP4E1"]
["AP4M1","Cerebral palsy","Cerebral palsy","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9179[geneid]~-~602296~-","AP4M1"]
["AP4M1","Microcephaly, paraplegia","Microcephalus;Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9179[geneid]~-~602296~-","AP4M1"]
["AP4S1","Intellectual disability, spastic paraplegia & short stature","Intellectual Disability;Spastic paraplegia;Short stature","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11154[geneid]~-~607243~-","AP4S1"]
["APAF1","Depression","Depressive disorder","Risk","Depressive disorder:Risk","Depressive disorder:Risk","HIGH","-~-~602233~-","APAF1"]
["APAF1","Major depression","Major depressive disorder","Risk","Depressive disorder:Risk","Depressive disorder:Risk","HIGH","-~-~602233~-","APAF1"]
["APAF1","Reduced function","NULL","Risk","NULL","NULL","HIGH","-~-~602233~-","APAF1"]
["APBA2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602712~-","APBA2"]
["APC","Adenomatous polyposis coli","Familial multiple polyposis syndrome","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Adenomatous polyposis coli, attenuated","Familial multiple polyposis syndrome","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Adenomatous polyposis with epiretinal membrane","Familial multiple polyposis syndrome","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","APC with desmoid tumour","Familial multiple polyposis syndrome","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Colorectal adenoma","Adenoma of large intestine","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Colorectal cancer, non-polyposis","Hereditary nonpolyposis colon cancer","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Desmoid tumours","Desmoid fibromatosis","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Gardner syndrome","Gardner syndrome","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~1651563","-"]
["APC","Hepatoblastoma","Hepatoblastoma","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Juvenile polyposis coli","Juvenile polyposis coli","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Multiple adenomas","Familial multiple polyposis syndrome","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APC","Thyroid cancer","Malignant tumor of thyroid gland","Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","Familial multiple polyposis syndrome:Autosomal Dominant$Brain Tumor-Polyposis Syndrome 2:Autosomal Dominant$Desmoid fibromatosis:Autosomal Dominant$Gardner syndrome:Autosomal Dominant$Hepatoblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1345~611731~-","APC"]
["APCDD1","Hypotrichosis simplex","Hypotrichosis simplex","Autosomal Dominant","Hypotrichosis simplex:Autosomal Dominant","Hypotrichosis simplex:Autosomal Dominant","HIGH","-~-~607479~-","APCDD1"]
["APEX1","Amyotrophic lateral sclerosis","Amyotrophic Lateral Sclerosis","Risk","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~107748~-","APEX1"]
["APH1A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607629~-","APH1A"]
["APOA1","Amyloidosis","Amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Amyloidosis, cardiac and cutaneous","Cutaneous amyloidosis;Cardiac amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Amyloidosis, cardiac and systemic","Cardiac amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Amyloidotic polyneuropathy","Polyneuropathy in amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Apolipoprotein A1 deficiency","Apolipoprotein A-I deficiency","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Apolipoprotein A1 deficiency","Apolipoprotein A-I deficiency","Autosomal Recessive","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Apolipoprotein A1 deficiency","Clouding of corneal stroma","Autosomal Recessive","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Atherosclerosis with coronary artery disease","Atherosclerosis of coronary artery","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","HDL deficiency","Familial hypoalphalipoproteinemia","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","HDL deficiency with periorbital xanthelasmas","Familial hypoalphalipoproteinemia;Xanthelasmas, periorbital","Autosomal Recessive","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Hyperlipidaemia","Hyperlipidemia","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Hypoalphalipoproteinaemia","Familial hypoalphalipoproteinemia","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA1","Reduced plasma HDL cholesterol","Familial hypoalphalipoproteinemia","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Dominant$Apolipoprotein A-I deficiency:Autosomal Recessive$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","Amyloidosis:Autosomal Dominant$Clouding of corneal stroma:Autosomal Recessive$Familial hypoalphalipoproteinemia:Autosomal Dominant$Familial hypoalphalipoproteinemia:Autosomal Recessive","HIGH","-~-~107680~-","APOA1"]
["APOA2","Amyloidosis, renal","Amyloid nephropathy","Autosomal Dominant","Apolipoprotein A-II deficiency:Autosomal Dominant","Apolipoprotein A-II deficiency:Autosomal Dominant","HIGH","-~-~107670~-","APOA2"]
["APOA2","Apolipoprotein A2 deficiency","Amyloid nephropathy","Autosomal Dominant","Apolipoprotein A-II deficiency:Autosomal Dominant","Apolipoprotein A-II deficiency:Autosomal Dominant","HIGH","-~-~107670~-","APOA2"]
["APOA4","Apolipoprotein A4 variant","NULL","No disease associated","NULL","NULL","HIGH","-~-~107690~-","APOA4"]
["APOA4","Apolipoprotein A4 variant","NULL",null,"NULL","NULL","HIGH","-~-~107690~-","APOA4"]
["APOA4","Higher LDL cholesterol level","Familial combined hyperlipidemia","Risk","Familial combined hyperlipidemia:Risk$Hyperlipidemia:Risk","Familial combined hyperlipidemia:Risk","HIGH","-~-~107690~-","APOA4"]
["APOA4","Hyperlipidaemia","Familial combined hyperlipidemia","Risk","Familial combined hyperlipidemia:Risk$Hyperlipidemia:Risk","Familial combined hyperlipidemia:Risk","HIGH","-~-~107690~-","APOA4"]
["APOA4","Lower plasma apo B concentration","Apolipoprotein B level","Modifier","Hypocholesterolemia:Modifier","Hypocholesterolemia:Modifier","HIGH","-~-~107690~-","APOA4"]
["APOA5","Chylomicronemia","Primary chylomicronemia","Autosomal Dominant","Familial lipoprotein lipase deficiency:Autosomal Dominant","Familial lipoprotein lipase deficiency:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116519[geneid]~-~606368~-","APOA5"]
["APOA5","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant","Familial lipoprotein lipase deficiency:Autosomal Dominant","Familial lipoprotein lipase deficiency:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116519[geneid]~-~606368~-","APOA5"]
["APOA5","Proteinuria and dyslipidaemia","Proteinuria;Dyslipidemia","Autosomal Dominant","Familial lipoprotein lipase deficiency:Autosomal Dominant","Familial lipoprotein lipase deficiency:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116519[geneid]~-~606368~-","APOA5"]
["APOA5","Reduced LPL activation","Hypertriglyceridemia","Modifier","Familial lipoprotein lipase deficiency:Autosomal Dominant","Familial lipoprotein lipase deficiency:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116519[geneid]~-~606368~-","APOA5"]
["APOB","Altered APOB levels","Apolipoprotein B level","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOB","Apolipoprotein B deficiency","Abetalipoproteinemia","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOB","Hypercholesterolaemia","Hypercholesterolemia","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOB","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOB","Hypobetalipoproteinaemia","Familial hypobetalipoproteinemia","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOB","Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis","Familial hypobetalipoproteinemia;Steatohepatitis","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOB","Hypocholesterolaemia","Hypocholesterolemia","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOB","Increased cholesterol levels","Hypercholesterolemia","Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Familial hypobetalipoproteinemia - heterozygous form:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant$Hypobetalipoproteinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338[geneid]~-~107730~-","APOB"]
["APOC1","Apolipoprotein C1 variant","Obesity","Risk","NULL","NULL","HIGH","-~-~107710~17310220","APOC1"]
["APOC1","LDL cholesterol levels, association with","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~107710~-","APOC1"]
["APOC2","Apolipoprotein C2 deficiency","Familial apolipoprotein C-II deficiency","Autosomal Recessive","Familial apolipoprotein C-II deficiency:Autosomal Recessive","Familial apolipoprotein C-II deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=344[geneid]~-~608083~-","APOC2"]
["APOC2","Chylomicronemia syndrome","Chylomicronemia syndrome","Autosomal Recessive","Familial apolipoprotein C-II deficiency:Autosomal Recessive","Familial apolipoprotein C-II deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=344[geneid]~-~608083~-","APOC2"]
["APOC2","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant","Familial apolipoprotein C-II deficiency:Autosomal Recessive","Familial apolipoprotein C-II deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=344[geneid]~-~608083~-","APOC2"]
["APOC3","Apolipoprotein C3 deficiency","Apolipoprotein C-III deficiency","Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOC3","Apolipoprotein C3 deficiency with apparent cardioprotection","Apolipoprotein C-III deficiency","Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOC3","Apolipoprotein C3 deficiency with apparent cardioprotection","Atherosclerosis","Decreased Risk (Added this row to indicate decreased risk of atherosclerosis) - AT comment \"The disease name should then be changed to Heart disease (or whatever the exact term whose risk is being decreased). APOC3 deficiency is still there, but with decreased risk of other disease.\"","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOC3","Apolipoprotein C3 variant","Apolipoprotein C-III deficiency","Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOC3","Autism","Autistic Disorder","Risk","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOC3","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOC3","Low triglyceride levels","Triglyceride level - low","Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOC3","Lower serum APOC3 level","Apolipoprotein C-III level","Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","Apolipoprotein C-III Deficiency:Autosomal Dominant","HIGH","-~-~107720~-","APOC3"]
["APOD","Decreased HDL3-C and apoA-I level in females","NULL","No disease associated","NULL","NULL","HIGH","-~-~107740~-","APOD"]
["APOD","Decreased HDL3-C and apoA-I level in females","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~107740~-","APOD"]
["APOD","Increased triglyceride level in males","NULL","No disease associated","NULL","NULL","HIGH","-~-~107740~-","APOD"]
["APOD","Increased triglyceride level in males","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~107740~-","APOD"]
["APOE","Alzheimer disease, increased risk","Alzheimer's disease","Risk","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","-"]
["APOE","Apolipoprotein E deficiency","Familial type 3 hyperlipoproteinemia","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Diabetes mellitus, type 2","Diabetes mellitus","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Hyperlipidaemia","Hyperlipidemia","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Hyperlipidaemia 3","Familial type 3 hyperlipoproteinemia","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Hyperlipoproteinaemia","Hyperlipoproteinemia","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Hyperlipoproteinaemia III","Familial type 3 hyperlipoproteinemia","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Hypertension","Essential hypertension","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Lipoprotein glomerulopathy","Lipoprotein glomerulopathy","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOE","Splenomegaly","Splenomegaly","Autosomal Recessive with pseudodominance due to high gene frequency(e.g. APOE .0009)","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Alzheimer disease type 2:Autosomal Dominant$Alzheimer disease type 2:Autosomal Recessive$Familial type 3 hyperlipoproteinemia:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","Alzheimer's disease:Autosomal Dominant$Alzheimer's disease:Autosomal Recessive$Lipoprotein glomerulopathy:Autosomal Recessive$Sea-blue histiocyte syndrome:Autosomal Recessive$Hyperlipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=348[geneid]~-~107741~-","APOE"]
["APOH","Reduced expression","NULL","No disease associated","NULL","NULL","HIGH","-~-~138700~-","APOH"]
["APOH","Reduced expression","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~138700~-","APOH"]
["APOL1","Nephrotic syndrome, steroid resistant","Steroid-resistant nephrotic syndrome","Risk","Focal segmental glomerulosclerosis:Risk","Focal segmental glomerulosclerosis:Risk","HIGH","-~-~603743~-","APOL1"]
["APP","Alzheimer disease","Alzheimer's disease","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer Disease, Familial, 1:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236~104760~-","APP"]
["APP","Alzheimer disease, protection against","Alzheimer's disease","Decreased Risk","Alzheimer's disease:Autosomal Dominant$Alzheimer Disease, Familial, 1:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236~104760~-","APP"]
["APP","Cerebral amyloid angiopathy","Cerebral amyloid angiopathy;Dementia","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer Disease, Familial, 1:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236~104760~-","APP"]
["APP","Cerebral haemorrhage","Cerebral hemorrhage","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer Disease, Familial, 1:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236~104760~-","APP"]
["APP","Reduced expression","NULL","No disease associated","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236~104760~-","APP"]
["APP","Schizophrenia","Schizophrenia","Risk","Alzheimer's disease:Autosomal Dominant$Alzheimer Disease, Familial, 1:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Cerebral amyloid angiopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236~104760~-","APP"]
["APRT","Adenine phosphoribosyltransferase deficiency","Deficiency of adenine phosphoribosyltransferase","Autosomal Recessive","Deficiency of adenine phosphoribosyltransferase:Autosomal Recessive","Deficiency of adenine phosphoribosyltransferase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=353[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK100238~102600~-","APRT"]
["APTX","Ataxia","Early onset cerebellar ataxia","Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54840[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1456~606350~-","APTX"]
["APTX","Ataxia, early-onset, with ocular motor apraxia & hypoalbuminaemia","Early onset cerebellar ataxia;Oculomotor apraxia;Hypoalbuminemia","Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54840[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1456~606350~-","APTX"]
["APTX","Ataxia-ocular apraxia","Early onset cerebellar ataxia;Oculomotor apraxia","Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54840[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1456~606350~-","APTX"]
["APTX","Ataxia-ocular apraxia 1","Early onset cerebellar ataxia;Oculomotor apraxia","Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54840[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1456~606350~-","APTX"]
["APTX","Multiple system atrophy, cerebellar type","Multiple system atrophy, cerebellar variant","Autosomal Dominant","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54840[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1456~606350~-","APTX"]
["AQP1","Channel-forming integral protein deficiency","Colton Blood group system","Autosomal Recessive","Colton Blood group system:Autosomal Recessive","Colton Blood group system:Autosomal Recessive","HIGH","-~-~107776~-","AQP1"]
["AQP1","Colton blood group variant","Colton Blood group system","Autosomal Recessive","Colton Blood group system:Autosomal Recessive","Colton Blood group system:Autosomal Recessive","HIGH","-~-~107776~-","AQP1"]
["AQP1","Colton-null blood group variant","Colton Blood group system","Autosomal Recessive","Colton Blood group system:Autosomal Recessive","Colton Blood group system:Autosomal Recessive","HIGH","-~-~107776~-","AQP1"]
["AQP2","Diabetes insipidus, nephrogenic","Nephrogenic diabetes insipidus","Autosomal Dominant","Nephrogenic diabetes insipidus:Autosomal Dominant","Nephrogenic diabetes insipidus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1177~107777~-","AQP2"]
["AQP2","Diabetes insipidus, nephrogenic","Nephrogenic diabetes insipidus","Autosomal Recessive","Nephrogenic diabetes insipidus:Autosomal Dominant","Nephrogenic diabetes insipidus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1177~107777~-","AQP2"]
["AQP3","Aquaporin 3 deficiency","GIL Blood group","Autosomal Recessive","GIL Blood group:Autosomal Recessive","GIL Blood group:Autosomal Recessive","HIGH","-~-~600170~-","AQP3"]
["AQP4","Hearing impairment","Hearing loss","Risk","Deafness:Risk","Deafness:Risk","HIGH","-~-~600308~-","AQP4"]
["AQP4","Increased water permeability","NULL","No disease associated","NULL","NULL","HIGH","-~-~600308~-","AQP4"]
["AQP4","Increased water permeability","NULL",null,"NULL","NULL","HIGH","-~-~600308~-","AQP4"]
["AQP4","Neuromyelitis optica","Neuromyelitis optica","Risk","Deafness:Risk","Deafness:Risk","HIGH","-~-~600308~-","AQP4"]
["AQP4","Reduced water permeability","NULL","No disease associated","NULL","NULL","HIGH","-~-~600308~-","AQP4"]
["AQP4","Reduced water permeability","NULL",null,"NULL","NULL","HIGH","-~-~600308~-","AQP4"]
["AQP5","Keratoderma, palmoplantar, diffuse nonepidermolytic","Diffuse palmoplantar keratoderma, Bothnian type","Autosomal Dominant","Diffuse palmoplantar keratoderma, Bothnian type:Autosomal Dominant","Diffuse palmoplantar keratoderma, Bothnian type:Autosomal Dominant","HIGH","-~-~600442~-","AQP5"]
["AQP5","Response to cigarette smoke extract & shear stress","Chronic obstructive pulmonary disease (COPD)","Risk","Diffuse palmoplantar keratoderma, Bothnian type:Autosomal Dominant","Diffuse palmoplantar keratoderma, Bothnian type:Autosomal Dominant","HIGH","-~-~600442~-","AQP5"]
["AR","Androgen insensitivity syndrome","Androgen resistance syndrome","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Androgen insensitivity syndrome & Leydig cell hyperplasia","Androgen resistance syndrome;Leydig cell hyperplasia","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Androgen insensitivity syndrome, partial","Androgen resistance syndrome","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Azoospermia, hypergonadotropic","Azoospermia","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Breast cancer, male","Breast Cancer, Familial Male","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Bulbospinal neuronopathy","Bulbospinal neuronopathy","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~16358333","AR"]
["AR","Defective spermatogenesis","Congenitally impaired spermatogenesis","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Hypospadias","Hypospadias","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Infertility, idiopathic","Male infertility","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Infertility, male","Male infertility","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Premature ovarian failure","Premature ovarian failure","Risk","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Prostate cancer","Malignant tumor of prostate","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Pseudohermaphroditism, male","Male pseudohermaphroditism","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Reifenstein syndrome","Reifenstein syndrome","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["AR","Testicular dysgenesis syndrome","Testicular dysgenesis syndrome","X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","Androgen resistance syndrome:X-linked Recessive$Breast Cancer, Familial Male:X-linked Recessive$Hypospadias:X-linked Recessive$Bulbospinal neuronopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=367[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1333$http://www.ncbi.nlm.nih.gov/books/NBK1429~313700~-","AR"]
["ARD1A","Aged appearance & cardiac arrhythmias, lethal, X-linked","Ogden Syndrome","X-linked Recessive","Ogden Syndrome:X-linked Recessive","Ogden Syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8260[geneid]~-~300013~-","NAA10"]
["ARF4","Decreased protein stability","NULL","No disease associated","NULL","NULL","HIGH","-~-~601177~-","ARF4"]
["ARF4","Decreased protein stability","NULL",null,"NULL","NULL","HIGH","-~-~601177~-","ARF4"]
["ARFGEF2","Choreadystonic movement disorder and periventricular heterotopia","Chorea;Dystonia;Movement disorder;Periventricular heterotopia","Autosomal Recessive","Heterotopia, Periventricular, Autosomal Recessive:Autosomal Recessive","Heterotopia, Periventricular, Autosomal Recessive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10564[geneid]~-~605371~-","ARFGEF2"]
["ARFGEF2","Periventricular heterotopia with microcephaly","Periventricular heterotopia;Microcephalus","Autosomal Recessive","Heterotopia, Periventricular, Autosomal Recessive:Autosomal Recessive","Heterotopia, Periventricular, Autosomal Recessive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10564[geneid]~-~605371~-","ARFGEF2"]
["ARG1","Arginase deficiency","Arginase deficiency","Autosomal Recessive","Arginase deficiency:Autosomal Recessive","Arginase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=383[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1159~608313~-","ARG1"]
["ARG1","Arginase I deficiency with hyperammonaemia","Arginase deficiency;Hyperammonemia","Autosomal Recessive","Arginase deficiency:Autosomal Recessive","Arginase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=383[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1159~608313~-","ARG1"]
["ARG1","Argininaemia","Arginase deficiency","Autosomal Recessive","Arginase deficiency:Autosomal Recessive","Arginase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=383[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1159~608313~-","ARG1"]
["ARG1","Hyperargininaemia","Arginase deficiency","Autosomal Recessive","Arginase deficiency:Autosomal Recessive","Arginase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=383[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1159~608313~-","ARG1"]
["ARHGAP24","Focal segmental glomerulosclerosis","Focal segmental glomerulosclerosis","Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","-~-~610586~21911940","ARHGAP24"]
["ARHGAP29","Cleft lip and palate, non-syndromic","Cleft palate with cleft lip","Autosomal Dominant","Cleft palate:Autosomal Dominant$Cleft lip:Autosomal Dominant$Facial cleft:Autosomal Dominant","Facial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9411[geneid]~-~610496~-","ARHGAP29"]
["ARHGAP29","Cleft lip, non-syndromic","Cleft lip","Autosomal Dominant","Cleft palate:Autosomal Dominant$Cleft lip:Autosomal Dominant$Facial cleft:Autosomal Dominant","Facial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9411[geneid]~-~610496~-","ARHGAP29"]
["ARHGDIA","Nephrotic syndrome","Nephrotic syndrome","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","-~-~601925~-","ARHGDIA"]
["ARHGEF10","Slowed nerve conduction velocities","Slowed Nerve Conduction Velocity, Autosomal Dominant","Autosomal Dominant","Slowed Nerve Conduction Velocity, Autosomal Dominant:Autosomal Dominant","Slowed Nerve Conduction Velocity, Autosomal Dominant:Autosomal Dominant","HIGH","-~-~608136~-","ARHGEF10"]
["ARHGEF15","Epileptic encephalopathy","Early myoclonic encephalopathy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","-~-~608504~-","ARHGEF15"]
["ARHGEF28","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive","HIGH","-~-~612790~-","ARHGEF28"]
["ARHGEF6","Autism spectrum disorder","Autistic Disorder","Risk","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9459[geneid]~-~300267~-","ARHGEF6"]
["ARHGEF6","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9459[geneid]~-~300267~-","ARHGEF6"]
["ARHGEF7","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~605477~-","ARHGEF7"]
["ARHGEF9","Epileptic encephalopathy, early infantile","Early infantile epileptic encephalopathy","X-linked Dominant","Hyperekplexia and Epilepsy:X-linked dominant","Hyperekplexia and Epilepsy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23229[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~300429~-","ARHGEF9"]
["ARHGEF9","Hyperekplexia and epilepsy","Hyperekplexia and Epilepsy","X-linked Dominant","Hyperekplexia and Epilepsy:X-linked dominant","Hyperekplexia and Epilepsy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23229[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~300429~-","ARHGEF9"]
["ARHGEF9","Intellectual disability","Intellectual Disability","X-linked Recessive","Hyperekplexia and Epilepsy:X-linked dominant","Hyperekplexia and Epilepsy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23229[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~300429~-","ARHGEF9"]
["ARID1A","Coffin-Siris syndrome","Coffin-Siris syndrome;Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131811~603024~-","ARID1A"]
["ARID1B","Autism","Autistic Disorder","Risk","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57492[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~614556~-","ARID1B"]
["ARID1B","Coffin-Siris syndrome","Coffin-Siris syndrome","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57492[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~614556~-","ARID1B"]
["ARID1B","Coffin-Siris syndrome","Mental Retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57492[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~614556~-","ARID1B"]
["ARID1B","Intellectual disability","Intellectual Disability","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57492[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~614556~-","ARID1B"]
["ARID5A","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611583~-","ARID5A"]
["ARIH1","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~605624~-","ARIH1"]
["ARL13B","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=200894[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~608922~-","ARL13B"]
["ARL2BP","Retinitis pigmentosa, Autosomal Recessive","Autosomal Recessive retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","-~-~615407~-","ARL2BP"]
["ARL6","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive$Retinitis pigmentosa:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1363~608845~-","ARL6"]
["ARL6","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive$Retinitis pigmentosa:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1363~608845~-","ARL6"]
["ARMC4","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive",null,"-~-~615408~-","ARMC4"]
["ARPC3","Porokeratosis, disseminated superficial actinic","Disseminated superficial actinic porokeratosis","Autosomal Dominant","Disseminated superficial actinic porokeratosis:Autosomal Dominant","Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","-~-~604225~-","ARPC3"]
["ARSA","Metachromatic leukodystrophy","Metachromatic leucodystrophy","Autosomal Recessive","Metachromatic leukodystrophy:Autosomal Recessive","Metachromatic leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1130~607574~-","ARSA"]
["ARSB","Mucopolysaccharidosis VI","Maroteaux-Lamy syndrome","Autosomal Recessive","Maroteaux-Lamy syndrome:Autosomal Recessive","Maroteaux-Lamy syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=411[geneid]~-~611542~-","ARSB"]
["ARSE","Brachytelephalangic chondrodysplasia punctata","Chondrodysplasia punctata, brachytelephalangic","X-linked Recessive","Chondrodysplasia punctata, X-linked Recessive type:X-linked Recessive","Chondrodysplasia punctata, X-linked Recessive type:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1544~300180~-","ARSE"]
["ARSE","Chondrodysplasia punctata","Chondrodysplasia punctata, X-linked Recessive type","X-linked Recessive","Chondrodysplasia punctata, X-linked Recessive type:X-linked Recessive","Chondrodysplasia punctata, X-linked Recessive type:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1544~300180~-","ARSE"]
["ARSE","Chondrodysplasia punctata, X-linked","Chondrodysplasia punctata, X-linked Recessive type","X-linked Recessive","Chondrodysplasia punctata, X-linked Recessive type:X-linked Recessive","Chondrodysplasia punctata, X-linked Recessive type:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1544~300180~-","ARSE"]
["ARSF","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300003~-","ARSF"]
["ARSH","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300586~-","ARSH"]
["ART4","Dombrock blood group variation","Dombrock blood group system","Risk","Dombrock blood group system:Risk","Dombrock blood group system:Risk","HIGH","-~-~110600~-","ART4"]
["ARX","ACC, epilepsy, abnormal genitalia","Agenesis of corpus callosum;Epilepsy;Male genitalia abnormal","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","ACC, infantile spasms & abnormal genitalia","Agenesis of corpus callosum;Infantile spasms;Male genitalia abnormal","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","ACC, lissencephaly, seizures & genital hypoplasia","Agenesis of corpus callosum;Lissencephaly;Seizure;Congenital hypoplasia of genital tubercle","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","ACC, mental retardation, epilepsy & dyskinetic quadriparesis","Agenesis of corpus callosum;Mental retardation;Epilepsy;Dyskinetic Quadriparesis","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Epilepsy, early-onset","Epilepsy","X-linked Recessive","Epileptic encephalopathy, early infantile, 1$Hydranencephaly with abnormal genitalia:X-linked$Hydranencephaly with abnormal genitalia$Lissencephaly, X-linked 2:X-linked$Lissencephaly, X-linked 2$Mental retardation, X-linked 29 and others$Partington syndrome$Proud syndrome:X-linked$Proud syndrome","Epileptic encephalopathy, early infantile, 1$Hydranencephaly with abnormal genitalia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Epileptic encephalopathy, early onset","Early myoclonic encephalopathy","X-linked Recessive","Epileptic encephalopathy, early infantile, 1$Hydranencephaly with abnormal genitalia:X-linked$Hydranencephaly with abnormal genitalia$Lissencephaly, X-linked 2:X-linked$Lissencephaly, X-linked 2$Mental retardation, X-linked 29 and others$Partington syndrome$Proud syndrome:X-linked$Proud syndrome","Epileptic encephalopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Intellectual disability & dystonia","Intellectual Disability;Dystonia","X-linked Recessive","Epileptic encephalopathy, early infantile, 1$Hydranencephaly with abnormal genitalia:X-linked$Hydranencephaly with abnormal genitalia$Lissencephaly, X-linked 2:X-linked$Lissencephaly, X-linked 2$Mental retardation, X-linked 29 and others$Partington syndrome$Proud syndrome:X-linked$Proud syndrome","Epileptic encephalopathy, early infantile, 1$Hydranencephaly with abnormal genitalia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Lissencephaly, X-linked, with abnormal genitalia","Lissencephaly;Male genitalia abnormal","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Mental retardation","Mental retardation","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Mental retardation and epilepsy","Mental retardation;Epilepsy","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Neurodegeneration","Hereditary degenerative disease of central nervous system","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Ohtahara syndrome","Early infantile epileptic encephalopathy with suppression bursts","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Ohtahara syndrome with developmental delay","Early infantile epileptic encephalopathy with suppression bursts;Developmental delay","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Partington syndrome","Partington X-linked mental retardation syndrome","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ARX","Proud syndrome","Proud syndrome","X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Epileptic Encephalopathy, Early Infantile, 1:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Partington X-linked mental retardation syndrome:X-linked Recessive$Proud syndrome:X-linked Recessive","Early myoclonic encephalopathy:X-linked Recessive$Hydranencephaly with abnormal genitalia:X-linked Recessive$Lissencephaly:X-linked Recessive$Mental retardation:X-linked Recessive$Proud syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=170302[geneid]~-~300382~-","ARX"]
["ASAH1","Farber disease","Farber's lipogranulomatosis","Autosomal Recessive","Farber's lipogranulomatosis:Autosomal Recessive$Spinal muscular atrophy:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","Farber's lipogranulomatosis:Autosomal Recessive$Spinal muscular atrophy:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","-~-~613468~-","ASAH1"]
["ASAH1","Spinal muscular atrophy associated with progressive myoclonic epilepsy","Spinal muscular atrophy;Progressive myoclonic epilepsy","Autosomal Recessive","Farber's lipogranulomatosis:Autosomal Recessive$Spinal muscular atrophy:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","Farber's lipogranulomatosis:Autosomal Recessive$Spinal muscular atrophy:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","-~-~613468~-","ASAH1"]
["ASAM","Congenital short-bowel syndrome","Short bowel syndrome","Autosomal Recessive","Short bowel syndrome:Autosomal Recessive","Short bowel syndrome:Autosomal Recessive","HIGH","-~-~611693~-","CLMP"]
["ASB1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605758~-","ASB1"]
["ASB10","Glaucoma, primary open angle","Primary open angle glaucoma","Risk","Primary open angle glaucoma:Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","HIGH","-~-~615054~-","ASB10"]
["ASCC1","Barrett oesophagus/oesophageal adenocarcinoma","Barrett's esophagus;Adenocarcinoma of esophagus","Autosomal Dominant","Barrett's esophagus:Autosomal Dominant$Adenocarcinoma of esophagus:Autosomal Dominant","Barrett's esophagus:Autosomal Dominant$Adenocarcinoma of esophagus:Autosomal Dominant","HIGH","-~-~614215~-","ASCC1"]
["ASCC3","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~614217~-","ASCC3"]
["ASCL1","Central hypoventilation syndrome","Central alveolar hypoventilation syndrome","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Haddad syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Haddad syndrome:Autosomal Dominant","HIGH","-~-~100790~-","ASCL1"]
["ASCL1","Haddad syndrome","Haddad syndrome","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Haddad syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Haddad syndrome:Autosomal Dominant","HIGH","-~-~100790~14532329","ASCL1"]
["ASCL1","Intellectual disability","Intellectual Disability","Risk","Central alveolar hypoventilation syndrome:Autosomal Dominant$Haddad syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Haddad syndrome:Autosomal Dominant","HIGH","-~-~100790~-","ASCL1"]
["ASFMR1","Fragile X associated tremor ataxia syndrome","Fragile X associated tremor ataxia syndrome","X-linked Recessive","Fragile X syndrome:X-linked dominant$Fragile X associated tremor ataxia syndrome:X-linked dominant$Hypergonadotropic Ovarian Failure, X Linked:X-linked dominant","Fragile X syndrome:X-linked dominant$Fragile X associated tremor ataxia syndrome:X-linked dominant$Hypergonadotropic Ovarian Failure, X Linked:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100126270[geneid]~-~300805~12638084","FMR1-AS1"]
["ASFMR1","Fragile X mental retardation syndrome","Fragile X syndrome","X-linked inheritance with variable expression in females","Fragile X syndrome:X-linked dominant$Fragile X associated tremor ataxia syndrome:X-linked dominant$Hypergonadotropic Ovarian Failure, X Linked:X-linked dominant","Fragile X syndrome:X-linked dominant$Fragile X associated tremor ataxia syndrome:X-linked dominant$Hypergonadotropic Ovarian Failure, X Linked:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100126270[geneid]~-~300805~-","FMR1-AS1"]
["ASH1L","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~607999~-","ASH1L"]
["ASL","Argininosuccinate lyase deficiency","Argininosuccinate lyase deficiency","Autosomal Recessive","Argininosuccinate lyase deficiency:Autosomal Recessive","Argininosuccinate lyase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK51784~608310~-","ASL"]
["ASL","Argininosuccinate lyase deficiency, variant","Argininosuccinate lyase deficiency","Autosomal Recessive","Argininosuccinate lyase deficiency:Autosomal Recessive","Argininosuccinate lyase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK51784~608310~-","ASL"]
["ASL","Argininosuccinic aciduria","Argininosuccinate lyase deficiency","Autosomal Recessive","Argininosuccinate lyase deficiency:Autosomal Recessive","Argininosuccinate lyase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK51784~608310~-","ASL"]
["ASMT","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~402500~-","ASMT"]
["ASMT","Bipolar disorder","Bipolar disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~402500~-","ASMT"]
["ASPA","Canavan disease","Spongy degeneration of central nervous system","Autosomal Recessive","Spongy degeneration of central nervous system:Autosomal Recessive","Spongy degeneration of central nervous system:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=443[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1234~608034~-","ASPA"]
["ASPA","Increased N-acetylaspartic acid excretion and macrocephaly","Urine aspartic acid level;Macroencephaly","Autosomal Recessive","Spongy degeneration of central nervous system:Autosomal Recessive","Spongy degeneration of central nervous system:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=443[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1234~608034~-","ASPA"]
["ASPH","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=444[geneid]~-~600582~-","ASPH"]
["ASPM","Primary microcephaly","Primary microcephaly","Autosomal Recessive","Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=259266[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~605481~-","ASPM"]
["ASPRV1","Dry skin / eczema","NULL","Negated by PMID 22318384","NULL","NULL","HIGH","-~-~611765~-","ASPRV1"]
["ASS1","Citrullinaemia","Citrullinemia","Autosomal Recessive","Citrullinemia:Autosomal Recessive","Citrullinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=445[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1458~603470~-","ASS1"]
["ASXL1","Bohring-Opitz syndrome","Bohring-Opitz syndrome","Autosomal Dominant","Bohring-Opitz syndrome:Autosomal Dominant","Bohring-Opitz syndrome:Autosomal Dominant","HIGH","-~-~612990~-","ASXL1"]
["ASXL1","Systemic mastocytosis with associated non-mast cell lineage disease","Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease","Autosomal Dominant","Bohring-Opitz syndrome:Autosomal Dominant","Bohring-Opitz syndrome:Autosomal Dominant","HIGH","-~-~612990~22905207","ASXL1"]
["ASXL3","Bohring-Opitz like syndrome","Bohring syndrome","Autosomal Dominant","Bohring syndrome:Autosomal Dominant","Bohring syndrome:Autosomal Dominant","HIGH","-~-~615115~-","ASXL3"]
["ATCAY","Cerebellar ataxia, Cayman type","Cerebellar ataxia, Cayman type","Autosomal Recessive","Cerebellar ataxia, Cayman type:Autosomal Recessive$Cerebellar ataxia:Autosomal Recessive","Cerebellar ataxia:Autosomal Recessive","HIGH","-~-~608179~-","ATCAY"]
["ATF3","Hypospadias","Hypospadias","Risk","Hypospadias:Risk","Hypospadias:Risk","HIGH","-~-~603148~-","ATF3"]
["ATF6","Fasting plasma glucose level","Diabetes mellitus type 2","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~605537~-","ATF6"]
["ATG5","Parkinson disease","Parkinson's disease","Autosomal Dominant","Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~-~604261~-","ATG5"]
["ATG7","Parkinson disease","Parkinson's disease","Autosomal Dominant","Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~-~608760~-","ATG7"]
["ATIC","AICA-Ribosiduria","Phosphoribosylaminoimidazolecarboxamide formyltransferase","Autosomal Recessive","AICA-ribosiduria due to ATIC deficiency","AICA-ribosiduria due to ATIC deficiency","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=471[geneid]~-~601731~-","ATIC"]
["ATL1","Neuropathy, hereditary sensory, type I","Autosomal Dominant sensory neuropathy","Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia 3, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51062[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45978~606439~-","ATL1"]
["ATL1","Spastic paraplegia","Hereditary spastic paraplegia","Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia 3, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51062[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45978~606439~-","ATL1"]
["ATL1","Spastic paraplegia 3","Spastic paraplegia 3, Autosomal Dominant","Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia 3, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51062[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45978~606439~-","ATL1"]
["ATL1","Spastic paraplegia with thin corpus callosum","Hereditary spastic paraplegia;Corpus callosum, thin","Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia 3, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Autosomal Dominant sensory neuropathy:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51062[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45978~606439~-","ATL1"]
["ATM","Acute lymphoblastic leukaemia","Acute lymphoid leukemia, disease","Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Ataxia telangiectasia","Ataxia-telangiectasia syndrome","Autosomal Recessive","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Ataxia telangiectasia, atypical","Ataxia-telangiectasia syndrome","Autosomal Recessive","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Ataxia telangiectasia, late-onset variant","Ataxia-telangiectasia syndrome","Autosomal Recessive","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Ataxia telangiectasia, variant","Ataxia-telangiectasia syndrome, mild","Autosomal Recessive","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","B-cell non-Hodgkin lymphoma","Diffuse non-Hodgkin's lymphoma, immunoblastic","Autosomal Dominant;Somatic mutation(Loss of Heterozygosity) AT - suggests Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Breast cancer","Malignant tumor of breast","Autosomal Dominant;Somatic mutation(Loss of Heterozygosity) AT - suggests Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Chronic lymphocytic leukaemia progression","Chronic lymphoid leukemia, disease","Autosomal Dominant;Somatic mutation(Loss of Heterozygosity) AT - suggests Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Hodgkin disease","NULL","No record of this disease caused by ATM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Mantle cell lymphoma","Mantle cell lymphoma","Autosomal Dominant;Somatic mutation(Loss of Heterozygosity) AT - suggests Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Multiple cancers","Multiple malignancy","Autosomal Dominant;Somatic mutation(Loss of Heterozygosity) AT - suggests Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Multiple myelomas","Multiple myeloma","Autosomal Dominant;Somatic mutation(Loss of Heterozygosity) AT - suggests Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATM","Ocular telangiectasia","Telangiectasia, Disease of eye","Autosomal Recessive","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","Ataxia-telangiectasia syndrome:Autosomal Recessive$Diffuse non-Hodgkin's lymphoma, immunoblastic:Autosomal Dominant$Mantle cell lymphoma:Autosomal Dominant$T-cell prolymphocytic leukemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26468~607585~-","ATM"]
["ATOH7","Eye development defects","Corneal opacity;Microphthalmos;Microcornea","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Microcornea:Autosomal Recessive$Vitreoretinopathy:Autosomal Recessive","Vitreoretinopathy:Autosomal Recessive","HIGH","-~-~609875~-","ATOH7"]
["ATOH7","Persistent hyperplasia of the primary vitreous","Persistent hyperplastic primary vitreous","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Microcornea:Autosomal Recessive$Vitreoretinopathy:Autosomal Recessive","Vitreoretinopathy:Autosomal Recessive","HIGH","-~-~609875~-","ATOH7"]
["ATP10D","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ATP10D"]
["ATP13A2","Kufor Rakeb syndrome","Kufor-Rakeb syndrome","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~610513~-","ATP13A2"]
["ATP13A2","Neuronal ceroid lipofuscinosis","Neuronal ceroid lipofuscinosis","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~610513~-","ATP13A2"]
["ATP13A2","Parkinson disease","Parkinson's disease","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~610513~-","ATP13A2"]
["ATP13A2","Parkinsonism with dementia","Dementia associated with Parkinson's Disease","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~610513~-","ATP13A2"]
["ATP13A2","Parkinsonism, juvenile","Juvenile Parkinson's disease","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~610513~-","ATP13A2"]
["ATP13A2","Parkinsonism, pyramidal disturbances & oculomotor abnormalities","Parkinson's disease;Extrapyramidal gait;Disorder of oculomotor system","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufor-Rakeb syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~610513~-","ATP13A2"]
["ATP13A5","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ATP13A5"]
["ATP1A2","Hemiplegic migraine","Familial hemiplegic migraine","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=477[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388~182340~-","ATP1A2"]
["ATP1A2","Hemiplegic migraine 2","Familial hemiplegic migraine, type 2","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=477[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388~182340~-","ATP1A2"]
["ATP1A2","Hemiplegic migraine 2 with febrile seizures","Familial hemiplegic migraine, type 2;Febrile convulsion","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=477[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388~182340~-","ATP1A2"]
["ATP1A2","Hemiplegic migraine and epilepsy","Familial hemiplegic migraine;Epilepsy","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=477[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388~182340~-","ATP1A2"]
["ATP1A2","Migraine","Migraine","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=477[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388~182340~-","ATP1A2"]
["ATP1A3","Alternating hemiplegia of childhood","Alternating hemiplegia of childhood","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=478[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1115~182350~-","ATP1A3"]
["ATP1A3","Dystonia 12","Dystonia 12","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=478[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1115~182350~-","ATP1A3"]
["ATP1A3","Dystonia-parkinsonism, rapid-onset","Dystonia-Parkinsonism, Rapid-Onset","Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine, type 2:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","Alternating hemiplegia of childhood:Autosomal Dominant$Migraine, Familial Basilar:Autosomal Dominant$Familial hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=478[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1115~182350~-","ATP1A3"]
["ATP1B1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~182330~-","ATP1B1"]
["ATP2A1","Brody myopathy","Brody myopathy","Autosomal Recessive","Brody myopathy:Autosomal Recessive","Brody myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=487[geneid]~-~108730~-","ATP2A1"]
["ATP2A2","Acrokeratosis verruciformis","Acrokeratosis verruciformis of Hopf","Autosomal Dominant","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=488[geneid]~-~108740~-","ATP2A2"]
["ATP2A2","Darier disease","Keratosis follicularis;Darier's disease","Autosomal Dominant","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=488[geneid]~-~108740~-","ATP2A2"]
["ATP2A2","Darier disease, comedonal","Keratosis follicularis;Darier's disease","Autosomal Dominant","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=488[geneid]~-~108740~-","ATP2A2"]
["ATP2A2","Reduced mRNA expression","Malignant neoplasm of skin head and neck","Risk","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant","Acrokeratosis verruciformis of Hopf:Autosomal Dominant$Darier's disease:Autosomal Dominant",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=488[geneid]~-~108740~-","ATP2A2"]
["ATP2A3","Adenocarcinoma","Neoplasm of colon;Neoplasm of lung;Neoplasm of nervous system","Risk","Cancer:Risk$Colon cancer:Risk$Lung cancer:Risk$Skin cancer:Risk$Diabetes mellitus type 2:Risk","Cancer:Risk","HIGH","-~-~601929~-","ATP2A3"]
["ATP2A3","Adenoma of hypophisis","Neoplasm of colon;Neoplasm of lung;Neoplasm of nervous system","Risk","Cancer:Risk$Colon cancer:Risk$Lung cancer:Risk$Skin cancer:Risk$Diabetes mellitus type 2:Risk","Cancer:Risk","HIGH","-~-~601929~-","ATP2A3"]
["ATP2A3","Diabetes, type 2","Diabetes mellitus type 2","Risk","Cancer:Risk$Colon cancer:Risk$Lung cancer:Risk$Skin cancer:Risk$Diabetes mellitus type 2:Risk","Cancer:Risk","HIGH","-~-~601929~-","ATP2A3"]
["ATP2A3","Reduced mRNA expression","Malignant neoplasm of skin head and neck","Risk","Cancer:Risk$Colon cancer:Risk$Lung cancer:Risk$Skin cancer:Risk$Diabetes mellitus type 2:Risk","Cancer:Risk","HIGH","-~-~601929~-","ATP2A3"]
["ATP2A3","Squamous cell carcinoma of head & neck","Malignant neoplasm of skin head and neck","Risk","Cancer:Risk$Colon cancer:Risk$Lung cancer:Risk$Skin cancer:Risk$Diabetes mellitus type 2:Risk","Cancer:Risk","HIGH","-~-~601929~-","ATP2A3"]
["ATP2B2","Deafness, Autosomal Recessive 12, modifier of","Deafness","Modifier","Deafness:Modifier","Deafness:Modifier","HIGH","-~-~108733~-","ATP2B2"]
["ATP2B3","Cerebellar ataxia, X-linked","Spinocerebellar Ataxia, X-Linked 1","X-linked Recessive","Spinocerebellar Ataxia, X-Linked 1:X-linked Recessive$Spinocerebellar ataxia:X-linked Recessive ","Spinocerebellar ataxia:X-linked Recessive ","HIGH","-~-~300014~-","ATP2B3"]
["ATP2B4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~108732~-","ATP2B4"]
["ATP2C1","Genitoperineal papular acantholytic dyskeratosis","Acantholysis","Autosomal Dominant","Familial benign pemphigus:Autosomal Dominant","Familial benign pemphigus:Autosomal Dominant","HIGH","-~-~604384~-","ATP2C1"]
["ATP2C1","Hailey-Hailey disease","Familial benign pemphigus","Autosomal Dominant","Familial benign pemphigus:Autosomal Dominant","Familial benign pemphigus:Autosomal Dominant","HIGH","-~-~604384~-","ATP2C1"]
["ATP2C1","Hailey-Hailey disease with condyloma acuminata","Familial benign pemphigus;Condyloma acuminata","Autosomal Dominant","Familial benign pemphigus:Autosomal Dominant","Familial benign pemphigus:Autosomal Dominant","HIGH","-~-~604384~-","ATP2C1"]
["ATP5A1","Mitochondrial encephalopathy, fatal neonatal","Mitochondrial encephalopathy","Autosomal Recessive","Complex V deficiency:Autosomal Recessive","Complex V deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=498[geneid]~-~164360~-","ATP5A1"]
["ATP5A1","Respiratory chain deficiency, combined","Deficiency in enzyme complexes of mitochondrial respiratory chain","Autosomal Recessive","Complex V deficiency:Autosomal Recessive","Complex V deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=498[geneid]~-~164360~-","ATP5A1"]
["ATP5E","Mitochondrial ATP synthase deficiency","Mitochondrial cytopathy","Autosomal Recessive","Mitochondrial cytopathy:Autosomal Recessive","Mitochondrial cytopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=514[geneid]~-~606153~-","ATP5E"]
["ATP6AP2","Mental retardation and epilepsy, X-linked","Mental Retardation, X-Linked, with Epilepsy","X-linked Recessive","Mental retardation:X-linked Recessive$Parkinsonism,Spasticity:X-linked","Mental retardation:X-linked Recessive$Parkinsonism,Spasticity:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10159[geneid]~-~300556~-","ATP6AP2"]
["ATP6AP2","Parkinsonism, X-linked with spasticity","Parkinsonism;Spasticity","X-linked Recessive","Mental retardation:X-linked Recessive$Parkinsonism,Spasticity:X-linked","Mental retardation:X-linked Recessive$Parkinsonism,Spasticity:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10159[geneid]~-~300556~-","ATP6AP2"]
["ATP6V0A2","Congenital disorder of glycosylation","Cutis laxa with osteodystrophy","Autosomal Recessive","Cutis laxa, Autosomal Recessive:Autosomal Recessive$Wrinkly skin syndrome:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5200~611716~-","ATP6V0A2"]
["ATP6V0A2","Cutis laxa","Cutis laxa","Autosomal Recessive","Cutis laxa, Autosomal Recessive:Autosomal Recessive$Wrinkly skin syndrome:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5200~611716~-","ATP6V0A2"]
["ATP6V0A2","Cutis laxa, Autosomal Recessive, type 2","Cutis laxa, Autosomal Recessive","Autosomal Recessive","Cutis laxa, Autosomal Recessive:Autosomal Recessive$Wrinkly skin syndrome:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5200~611716~-","ATP6V0A2"]
["ATP6V0A2","Cutis laxa, Dandy-Walker malformation & microcephaly","Dandy-Walker syndrome","Autosomal Recessive","Cutis laxa, Autosomal Recessive:Autosomal Recessive$Wrinkly skin syndrome:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5200~611716~-","ATP6V0A2"]
["ATP6V0A2","Wrinkly skin syndrome","Wrinkly skin syndrome","Autosomal Recessive","Cutis laxa, Autosomal Recessive:Autosomal Recessive$Wrinkly skin syndrome:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5200~611716~-","ATP6V0A2"]
["ATP6V0A4","Distal renal tubular acidosis, Autosomal Recessive","Distal renal tubular acidosis","Autosomal Recessive","Distal renal tubular acidosis:Autosomal Recessive","Distal renal tubular acidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50617[geneid]~-~605239~-","ATP6V0A4"]
["ATP6V1B1","Osteopetrosis with distal RTA","Osteopetrosis with renal tubular acidosis","Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=525[geneid]~-~192132~-","ATP6V1B1"]
["ATP6V1B1","Renal tubular acidosis","Renal tubular acidosis","Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=525[geneid]~-~192132~-","ATP6V1B1"]
["ATP6V1B1","Renal tubular acidosis & hearing loss","Renal tubular acidosis with progressive nerve deafness","Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=525[geneid]~-~192132~-","ATP6V1B1"]
["ATP6V1B1","Renal tubular acidosis, sensorineural deafness","Renal tubular acidosis with progressive nerve deafness","Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","Renal tubular acidosis with progressive nerve deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=525[geneid]~-~192132~-","ATP6V1B1"]
["ATP7A","Menkes syndrome","Menkes kinky-hair syndrome","X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Cutis laxa, x-linked:X-linked Recessive$Spinal Muscular Atrophy, Distal, X-Linked 3:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1413~300011~-","ATP7A"]
["ATP7A","Menkes syndrome with heart defects","Menkes kinky-hair syndrome","X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Cutis laxa, x-linked:X-linked Recessive$Spinal Muscular Atrophy, Distal, X-Linked 3:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1413~300011~-","ATP7A"]
["ATP7A","Menkes syndrome, atypical","Menkes kinky-hair syndrome","X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Cutis laxa, x-linked:X-linked Recessive$Spinal Muscular Atrophy, Distal, X-Linked 3:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1413~300011~-","ATP7A"]
["ATP7A","Motor neuropathy, distal hereditary","Peripheral motor neuropathy","X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Cutis laxa, x-linked:X-linked Recessive$Spinal Muscular Atrophy, Distal, X-Linked 3:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1413~300011~-","ATP7A"]
["ATP7A","Occipital horn syndrome","Cutis laxa, x-linked","X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Cutis laxa, x-linked:X-linked Recessive$Spinal Muscular Atrophy, Distal, X-Linked 3:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","Menkes kinky-hair syndrome:X-linked Recessive$Distal spinal muscular atrophy:X-linked Recessive$Cutis laxa:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1413~300011~-","ATP7A"]
["ATP7B","Hepatocerebral degeneration","Wilson's disease","Autosomal Dominant","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=540[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1512~606882~-","ATP7B"]
["ATP7B","Whispering dysphonia","Whispering dysphonia, hereditary","Risk","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=540[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1512~606882~-","ATP7B"]
["ATP7B","Wilson disease","Wilson's disease","Autosomal Recessive","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=540[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1512~606882~-","ATP7B"]
["ATP7B","Wilson disease with early and/or severe hepatic disease","Wilson's disease","Autosomal Recessive","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","Wilson's disease:Autosomal Dominant$Wilson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=540[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1512~606882~-","ATP7B"]
["ATP8A2","Cerebellar ataxia, mental retardation and dysequilibrium syndrome","Dysequilibrium syndrome","Autosomal Recessive","Dysequilibrium syndrome:Autosomal Recessive","Dysequilibrium syndrome:Autosomal Recessive","HIGH","-~-~605870~-","ATP8A2"]
["ATP8B1","Cholestasis, intrahepatic","Intrahepatic cholestasis","Autosomal Recessive","Benign recurrent intrahepatic cholestasis:Autosomal Recessive$Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5205[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~602397~-","ATP8B1"]
["ATP8B1","Intrahepatic cholestasis of pregnancy","Cholestasis of pregnancy","Autosomal Recessive","Benign recurrent intrahepatic cholestasis:Autosomal Recessive$Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5205[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~602397~-","ATP8B1"]
["ATP8B1","Intrahepatic cholestasis, benign recurrent","Benign recurrent intrahepatic cholestasis","Autosomal Recessive","Benign recurrent intrahepatic cholestasis:Autosomal Recessive$Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5205[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~602397~-","ATP8B1"]
["ATP8B1","Intrahepatic cholestasis, familial progressive","Progressive intrahepatic cholestasis","Autosomal Recessive","Benign recurrent intrahepatic cholestasis:Autosomal Recessive$Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5205[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~602397~-","ATP8B1"]
["ATP8B1","Intrahepatic cholestasis, familial progressive 1","Progressive intrahepatic cholestasis","Autosomal Recessive","Benign recurrent intrahepatic cholestasis:Autosomal Recessive$Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5205[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~602397~-","ATP8B1"]
["ATP8B1","Intrahepatic cholestasis, Greenland type","Progressive intrahepatic cholestasis","Autosomal Recessive","Benign recurrent intrahepatic cholestasis:Autosomal Recessive$Cholestasis of pregnancy:Autosomal Dominant$Progressive intrahepatic cholestasis:Autosomal Recessive","Intrahepatic cholestasis:Autosomal Recessive$Intrahepatic cholestasis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5205[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~602397~-","ATP8B1"]
["ATPAF2","Complex V deficiency","Complex V deficiency","Autosomal Dominant","Complex V deficiency:Autosomal Recessive","Complex V deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91647[geneid]~-~608918~-","ATPAF2"]
["ATR","Microcephaly, primary","Primary microcephaly","Autosomal Recessive","Cutaneous telangiectasia and cancer syndrome, familial:Autosomal Dominant$Odontotrichomelic syndrome:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Cutaneous telangiectasia and cancer syndrome, familial:Autosomal Dominant$Odontotrichomelic syndrome:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=545[geneid]~-~601215~-","ATR"]
["ATR","Oropharyngeal cancer syndrome","Neoplasm of oropharynx","Autosomal Dominant","Cutaneous telangiectasia and cancer syndrome, familial:Autosomal Dominant$Odontotrichomelic syndrome:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Cutaneous telangiectasia and cancer syndrome, familial:Autosomal Dominant$Odontotrichomelic syndrome:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=545[geneid]~-~601215~-","ATR"]
["ATR","Seckel syndrome","Seckel syndrome","Autosomal Recessive","Cutaneous telangiectasia and cancer syndrome, familial:Autosomal Dominant$Odontotrichomelic syndrome:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Cutaneous telangiectasia and cancer syndrome, familial:Autosomal Dominant$Odontotrichomelic syndrome:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=545[geneid]~-~601215~-","ATR"]
["ATRIP","Seckel syndrome","Seckel syndrome","Autosomal Recessive","Seckel syndrome:Autosomal Recessive","Seckel syndrome:Autosomal Recessive","HIGH","-~-~606605~-","ATRIP"]
["ATRX","ATRX syndrome","Alpha thalassemia-mental retardation syndrome","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["ATRX","ATRX syndrome, atypical","Alpha thalassemia-mental retardation syndrome","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["ATRX","Carpenter-Waziri syndrome","Mental retardation-hypotonic facies syndrome, x-linked, 1","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["ATRX","Intellectual disability, X-linked","Intellectual Disability","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["ATRX","Juberg-Marsidi syndrome","Juberg-Marsidi syndrome","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["ATRX","Mental retardation and spastic paraplegia","Mental retardation;Spastic paraplegia","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["ATRX","Mental retardation without alpha thalassaemia","Mental retardation","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["ATRX","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","Alpha thalassemia-mental retardation syndrome:X-linked Recessive$Mental retardation-hypotonic facies syndrome, x-linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1449~300032~-","ATRX"]
["AUH","3-Methylglutaconic aciduria type 1","3-Methylglutaconic aciduria type 1","Autosomal Recessive","3-Methylglutaconic aciduria type 1:Autosomal Recessive","3-Methylglutaconic aciduria type 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=549[geneid]~-~600529~-","AUH"]
["AURKA","Breast cancer","Malignant tumor of breast","Risk","Malignant tumor of breast:Risk$Malignant tumor of colon:Risk","Cancer:Risk","HIGH","-~-~603072~-","AURKA"]
["AURKA","Malignant tumor of colon","Malignant tumor of colon","Risk","Malignant tumor of breast:Risk$Malignant tumor of colon:Risk","Cancer:Risk","HIGH","-~-~603072~12881723","AURKA"]
["AURKB","Azoospermia","Azoospermia","Risk","Azoospermia:Risk","Azoospermia:Risk","HIGH","-~-~604970~-","AURKB"]
["AURKC","Infertility, male","Male infertility","Autosomal Recessive","Infertility associated with multi-tailed spermatozoa and excessive DNA:Autosomal Recessive","Infertility associated with multi-tailed spermatozoa and excessive DNA:Autosomal Recessive","HIGH","-~-~603495~-","AURKC"]
["AURKC","Large-headed spermatazoa","Primary spermatogenic failure","Autosomal Recessive","Infertility associated with multi-tailed spermatozoa and excessive DNA:Autosomal Recessive","Infertility associated with multi-tailed spermatozoa and excessive DNA:Autosomal Recessive","HIGH","-~-~603495~-","AURKC"]
["AVP","Diabetes insipidus, central","Familial central diabetes insipidus","Autosomal Dominant","Neurohypophyseal diabetes insipidus:Autosomal Dominant","Neurohypophyseal diabetes insipidus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=551[geneid]~-~192340~-","AVP"]
["AVP","Diabetes insipidus, neurohypophyseal","Neurohypophyseal diabetes insipidus","Autosomal Dominant","Neurohypophyseal diabetes insipidus:Autosomal Dominant","Neurohypophyseal diabetes insipidus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=551[geneid]~-~192340~-","AVP"]
["AVPR2","Diabetes insipidus, central","Familial central diabetes insipidus","X-linked Recessive","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1177~300538~-","AVPR2"]
["AVPR2","Diabetes insipidus, nephrogenic","Nephrogenic diabetes insipidus","X-linked Recessive","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=554[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1177~300538~-","AVPR2"]
["AVPR2","Increased binding affinity","Factor VIII+von Willebrand factor","Modifier","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=554[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1177~300538~-","AVPR2"]
["AVPR2","Nephrogenic syndrome of inappropriate antidiuresis","Syndrome of inappropriate antidiuresis","X-linked Recessive","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","Nephrogenic diabetes insipidus:X-linked Recessive$Syndrome of inappropriate antidiuresis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=554[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1177~300538~-","AVPR2"]
["AXIN1","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk","Defective development of the cauda equina:Risk$Hepatocellular carcinoma:Autosomal Dominant","Defective development of the cauda equina:Risk$Hepatocellular carcinoma:Autosomal Dominant","HIGH","-~-~603816~-","AXIN1"]
["AXIN1","Caudal Duplication Anomaly","Defective development of the cauda equina","Risk","Defective development of the cauda equina:Risk$Hepatocellular carcinoma:Autosomal Dominant","Defective development of the cauda equina:Risk$Hepatocellular carcinoma:Autosomal Dominant","HIGH","-~-~603816~16773576","AXIN1"]
["AXIN1","Colorectal adenoma","Adenoma of large intestine","Risk","Defective development of the cauda equina:Risk$Hepatocellular carcinoma:Autosomal Dominant","Defective development of the cauda equina:Risk$Hepatocellular carcinoma:Autosomal Dominant","HIGH","-~-~603816~-","AXIN1"]
["AXIN2","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8313[geneid]~-~604025~-","AXIN2"]
["AXIN2","Ectodermal dysplasia & neoplastic syndrome","Ectodermal dysplasia;Neoplastic syndrome","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8313[geneid]~-~604025~-","AXIN2"]
["AXIN2","Oligodontia","Partial congenital absence of teeth","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8313[geneid]~-~604025~-","AXIN2"]
["AXIN2","Tooth agenesis and colorectal cancer","Partial congenital absence of teeth;Colorectal Cancer","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Oligodontia-Colorectal Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8313[geneid]~-~604025~-","AXIN2"]
["B2M","Amyloidosis, systemic","Systemic amyloidosis","Autosomal Dominant","Immunoglobulin hypercatabolism:Autosomal Recessive","Immunoglobulin hypercatabolism:Autosomal Recessive","HIGH","-~-~109700~-","B2M"]
["B2M","Hypercatabolic hypoproteinaemia, familial","Immunoglobulin hypercatabolism","Autosomal Recessive","Immunoglobulin hypercatabolism:Autosomal Recessive","Immunoglobulin hypercatabolism:Autosomal Recessive","HIGH","-~-~109700~-","B2M"]
["B3GALNT1","B3GALNT1 deficiency ","Blood group antigen P(k)","Autosomal Recessive","Blood group antigen P(k):Autosomal Recessive","Blood group antigen P(k):Autosomal Recessive","HIGH","-~-~603094~-","B3GALNT1"]
["B3GALNT2","Dystroglycanopathy","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","-~-~610194~-","B3GALNT2"]
["B3GALT6","Ehlers-Danlos syndrome, progeroid type","Ehlers-Danlos syndrome, progeroid form","Autosomal Recessive","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Recessive$Ehlers-Danlos syndrome, progeroid form:Autosomal Recessive","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Recessive$Ehlers-Danlos syndrome, progeroid form:Autosomal Recessive",null,"-~-~615291~-","B3GALT6"]
["B3GALT6","Ehlers-Danlos syndrome-like","Ehlers-Danlos syndrome","Autosomal Recessive","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Recessive$Ehlers-Danlos syndrome, progeroid form:Autosomal Recessive","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Recessive$Ehlers-Danlos syndrome, progeroid form:Autosomal Recessive",null,"-~-~615291~-","B3GALT6"]
["B3GALT6","Spondyloepimetaphyseal dysplasia with joint laxity","Spondyloepimetaphyseal dysplasia with joint laxity","Autosomal Recessive","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Recessive$Ehlers-Danlos syndrome, progeroid form:Autosomal Recessive","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Recessive$Ehlers-Danlos syndrome, progeroid form:Autosomal Recessive",null,"-~-~615291~-","B3GALT6"]
["B3GALTL","Peters-Plus syndrome","Peters plus syndrome","Autosomal Recessive","Peters plus syndrome:Autosomal Recessive","Peters plus syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145173[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1464~610308~-","B3GALTL"]
["B3GAT3","Larsen-like syndrome, B3GAT3 type","Multiple dislocations;Short stature;Craniofacial dysmorphism;Congenital heart disease","Autosomal Recessive","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects:Autosomal Recessive","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects:Autosomal Recessive","HIGH","-~-~606374~-","B3GAT3"]
["B3GAT3","Skeletal dysplasia","Congenital skeletal dysplasia","Autosomal Recessive","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects:Autosomal Recessive","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects:Autosomal Recessive","HIGH","-~-~606374~-","B3GAT3"]
["B3GNT1","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","-~-~605581~-","B3GNT2"]
["B4GALNT1","Spastic paraplegia 26","Spastic paraplegia 26, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia 26, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive ","Spastic paraplegia:Autosomal Recessive ","HIGH","-~-~601873~-","B4GALNT1"]
["B4GALT1","Congenital disorder of glycosylation 2d","Congenital disorder of glycosylation type 2D","Autosomal Recessive","Congenital disorder of glycosylation type 2D:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~137060~-","B4GALT1"]
["B4GALT7","Ehlers-Danlos syndrome, progeroid type","Ehlers-Danlos syndrome, progeroid form","Autosomal Recessive","Ehlers-Danlos syndrome, progeroid form:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","-~-~604327~-","B4GALT7"]
["B9D1","Meckel syndrome","Meckel syndrome, type 9","Autosomal Recessive","Meckel syndrome, type 9:Autosomal Recessive$Meckel syndrome:Autosomal Recessive","Meckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27077[geneid]~-~614144~-","B9D1"]
["B9D2","Meckel syndrome","Meckel syndrome, type 10","Autosomal Recessive","Meckel syndrome, type 10:Autosomal Recessive$Meckel syndrome:Autosomal Recessive","Meckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80776[geneid]~-~611951~-","B9D2"]
["BAAT","Bile acid amidation defect","NULL","No mutation detected in BAAT PMID 22089923","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=570[geneid]~-~602938~-","BAAT"]
["BAAT","Hypercholanaemia","Hypercholanemia, Familial","Autosomal Recessive","Hypercholanemia, Familial:Autosomal Recessive","Hypercholanemia, Familial:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=570[geneid]~-~602938~-","BAAT"]
["BABAM1","Ovarian cancer, susceptibility to","Malignant tumor of ovary","Risk","Malignant tumor of ovary:Risk","Malignant tumor of ovary:Risk","HIGH","-~-~612766~-","BABAM1"]
["BACE1","Creutzfeldt-Jakob disease, sporadic, increased risk","Jakob-Creutzfeldt disease","Risk","Jakob-Creutzfeldt disease:Risk","Jakob-Creutzfeldt disease:Risk","HIGH","-~-~604252~-","BACE1"]
["BAG3","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9531[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~603883~-","BAG3"]
["BAG3","Myofibrillar myopathy","Myofibrillar myopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9531[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~603883~-","BAG3"]
["BANF1","Progeroid syndrome","Nestor-Guillermo progeria syndrome","Autosomal Recessive","Nestor-Guillermo progeria syndrome:Autosomal Recessive","Nestor-Guillermo progeria syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8815[geneid]~-~603811~-","BANF1"]
["BAP1","Cutaneous melanoma","Malignant melanoma of skin","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BAP1","Melanocytic neoplasms","Melanocytic neoplasm","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BAP1","Mesothelioma, predisposition to","Mesothelioma","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BAP1","Metastatic uveal melanoma","Malignant melanoma of iris","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BAP1","Ocular melanoma","Malignant melanoma of eye","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BAP1","Renal cell carcinoma","Renal cell carcinoma","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BAP1","Uveal melanoma, lung carcinoma, meningioma, predisposition to","Malignant melanoma of iris;Malignant epithelial neoplasm of lung;Meningioma, malignant","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BAP1","Uveal/cutaneous melanoma","Malignant melanoma of iris;Malignant melanoma of skin","Risk","Tumor predisposition syndrome:Autosomal Dominant","Tumor predisposition syndrome:Autosomal Dominant","HIGH","-~-~603089~-","BAP1"]
["BARD1","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant neoplasm of ovary","Risk","Malignant tumor of breast:Risk","Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=580[geneid]~-~601593~-","BARD1"]
["BARD1","Breast cancer","Malignant tumor of breast","Risk","Malignant tumor of breast:Risk","Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=580[geneid]~-~601593~-","BARD1"]
["BARD1","Fallopian tube carcinoma","Carcinoma of fallopian tube","Risk","Malignant tumor of breast:Risk","Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=580[geneid]~-~601593~-","BARD1"]
["BARD1","Neuroblastoma","Neuroblastoma","Risk","Malignant tumor of breast:Risk","Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=580[geneid]~-~601593~-","BARD1"]
["BARD1","Ovarian cancer","Malignant tumor of ovary","Risk","Malignant tumor of breast:Risk","Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=580[geneid]~-~601593~-","BARD1"]
["BBS1","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=582[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~209901~-","BBS1"]
["BBS1","Phenotype modifier","Bardet-Biedl syndrome","Modifier","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=582[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~209901~-","BBS1"]
["BBS1","Retinitis pigmentosa, nonsyndromic","Retinitis pigmentosa","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=582[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~209901~-","BBS1"]
["BBS10","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79738[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~610148~-","BBS10"]
["BBS12","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=166379[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~610683~-","BBS12"]
["BBS12","Cone-rod dystrophy","NULL","No association with cone-rod dystrophy PMID 22025579","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=166379[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~610683~-","BBS12"]
["BBS2","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=583[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~606151~-","BBS2"]
["BBS4","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~600374~-","BBS4"]
["BBS4","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~600374~-","BBS4"]
["BBS5","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=129880[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~603650~-","BBS5"]
["BBS5","Phenotype modifier","Bardet-Biedl syndrome","Modifier","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=129880[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~603650~-","BBS5"]
["BBS7","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55212[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~607590~-","BBS7"]
["BBS9","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","Bardet-Biedl syndrome:Autosomal Recessive$Bardet-Biedl syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27241[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~607968~-","BBS9"]
["BCAM","Blood group variation","LuLu phenotype","Autosomal Recessive","Blood group antigen Au(a):Risk$Lutheran blood group phenotype:Autosomal Recessive","Blood group antigen Au(a):Risk$Lutheran blood group phenotype:Autosomal Recessive","HIGH","-~-~612773~-","BCAM"]
["BCAM","Blood group variation","Lutheran blood group phenotype;Blood group antigen Au(a)","Risk","Blood group antigen Au(a):Risk$Lutheran blood group phenotype:Autosomal Recessive","Blood group antigen Au(a):Risk$Lutheran blood group phenotype:Autosomal Recessive","HIGH","-~-~612773~-","BCAM"]
["BCHE","Butyrylcholinesterase deficiency","Pseudocholinesterase deficiency","Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=590[geneid]~-~177400~-","BCHE"]
["BCHE","Butyrylcholinesterase variant","Pseudocholinesterase deficiency","Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=590[geneid]~-~177400~-","BCHE"]
["BCHE","Cholinesterasaemia","Pseudocholinesterase deficiency","Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=590[geneid]~-~177400~-","BCHE"]
["BCHE","Hypocholinesterasaemia","Pseudocholinesterase deficiency","Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=590[geneid]~-~177400~-","BCHE"]
["BCHE","Serum cholinesterase deficiency","Pseudocholinesterase deficiency","Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","Postanesthesia apnea:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=590[geneid]~-~177400~-","BCHE"]
["BCKDHA","Maple syrup urine disease","Maple syrup urine disease","Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=593[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1319~608348~-","BCKDHA"]
["BCKDHB","Maple syrup urine disease","Maple syrup urine disease","Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=594[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1319~248611~-","BCKDHB"]
["BCKDK","Autism with epilepsy","Autistic Disorder;Epilepsy;Intellectual Disability","Autosomal Recessive","Autistic Disorder:Autosomal Recessive$Epilepsy:Autosomal Recessive$Intellectual disability:Autosomal Recessive","Autistic Disorder:Autosomal Recessive$Epilepsy:Autosomal Recessive$Intellectual disability:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10295[geneid]~-~614901~-","BCKDK"]
["BCL11A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606557~-","BCL11A"]
["BCL9","Congenital heart disease","Congenital heart disease","Risk","Congenital heart disease:Risk","Congenital heart disease:Risk","HIGH","-~-~602597~-","BCL9"]
["BCLAF1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612588~-","BCLAF1"]
["BCMO1","Hypercarotenemia and hypovitaminosis A","Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant","Autosomal Dominant","Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant:Autosomal Dominant","Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant:Autosomal Dominant","HIGH","-~-~605748~-","BCMO1"]
["BCOR","Oculofaciocardiodental syndrome","Oculofaciocardiodental syndrome","X-linked Dominant","Microphthalmia, syndromic 2:X-linked dominant$Microphthalmos:X-linked dominant","Microphthalmos:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54880[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1521~300485~-","BCOR"]
["BCORL1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300688~-","BCORL1"]
["BCS1L","Complex 3 deficiency","Ubiquinone dehydrogenase","Autosomal Recessive","Pili torti-deafness syndrome:Autosomal Recessive$GRACILE syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex III Deficiency:Autosomal Recessive","Pili torti-deafness syndrome:Autosomal Recessive$GRACILE syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex III Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=617[geneid]~-~603647~-","BCS1L"]
["BCS1L","GRACILE syndrome","GRACILE syndrome","Autosomal Recessive","Pili torti-deafness syndrome:Autosomal Recessive$GRACILE syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex III Deficiency:Autosomal Recessive","Pili torti-deafness syndrome:Autosomal Recessive$GRACILE syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex III Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=617[geneid]~-~603647~-","BCS1L"]
["BCS1L","Pili torti and nerve deafness","Pili torti-deafness syndrome","Autosomal Recessive","Pili torti-deafness syndrome:Autosomal Recessive$GRACILE syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex III Deficiency:Autosomal Recessive","Pili torti-deafness syndrome:Autosomal Recessive$GRACILE syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex III Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=617[geneid]~-~603647~-","BCS1L"]
["BDNF","Central hypoventilation syndrome","Central alveolar hypoventilation syndrome","Risk","Central alveolar hypoventilation syndrome:Risk","Central alveolar hypoventilation syndrome:Risk","HIGH","-~-~113505~-","BDNF"]
["BEND2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","BEND2"]
["BEST1","Adult vitelliform macular dystrophy","Adult vitelliform macular dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Adult vitelliform maculopathy","Adult vitelliform macular dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Age-related macular degeneration","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Best macular dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Bestrophinopathy","Bestrophinopathy","Autosomal Recessive","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Bulls eye maculopathy","Bull's eye macular dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Juvenile vitelliform macular dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Leber congenital amaurosis","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Macular degeneration, age related","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Multifocal best vitelliform macular dystrophy","Vitelliform dystrophy","Autosomal Recessive","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Multifocal vitelliform dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Nanophthalmos and retinal dystrophy","Simple microphthalmos;Vitreoretinochoroidopathy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Retinal dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BEST1","Vitreoretinochoroidopathy, Autosomal Dominant","Vitreoretinochoroidopathy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["BFSP2","Cataract, progressive, juvenile onset","Juvenile cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~603212~-","BFSP2"]
["BFSP2","Congenital cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~603212~-","BFSP2"]
["BFSP2","Diffuse cortical cataract with scattered lens opacities","Cortical cataract;Lens opacities","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~603212~-","BFSP2"]
["BFSP2","Paediatric cataract","Juvenile cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~603212~-","BFSP2"]
["BHD","Birt-Hogg-Dube syndrome","Multiple fibrofolliculomas","Autosomal Dominant","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201163[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1522~607273~-","FLCN"]
["BHD","Colorectal cancer","Colorectal Cancer","Risk","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201163[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1522~607273~-","FLCN"]
["BHD","Pneumothorax, primary spontaneous","Spontaneous pneumothorax","Autosomal Dominant","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201163[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1522~607273~-","FLCN"]
["BHD","Renal cell carcinoma","Renal cell carcinoma","Autosomal Dominant","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Multiple fibrofolliculomas:Autosomal Dominant$Colorectal cancer:Risk$Primary spontaneous pneumothorax:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201163[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1522~607273~-","FLCN"]
["BHLHE41","Short sleep cycle","Short-sleeper","Autosomal Dominant","Short-sleeper:Autosomal Dominant","Short-sleeper:Autosomal Dominant","HIGH","-~-~606200~-","BHLHE41"]
["BICC1","Cystic renal dysplasia","Multicystic kidney","Risk","Multicystic kidney:Risk","Multicystic kidney:Risk","HIGH","-~-~614295~-","BICC1"]
["BICD2","Spastic paraplegia","Spastic paraplegia","Autosomal Dominant","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Spinal muscular atrophy:Autosomal Dominant","HIGH","-~-~609797~-","BICD2"]
["BICD2","Spinal muscular atrophy, Autosomal Dominant","Spinal muscular atrophy","Autosomal Dominant","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Spinal muscular atrophy:Autosomal Dominant","HIGH","-~-~609797~-","BICD2"]
["BICD2","Spinal muscular atrophy, modifier of","Spinal muscular atrophy","Modifier","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Spinal muscular atrophy:Autosomal Dominant","HIGH","-~-~609797~-","BICD2"]
["BIN1","Myopathy, centronuclear, Autosomal Recessive","Autosomal Recessive centronuclear myopathy","Autosomal Recessive","Autosomal Recessive centronuclear myopathy:Autosomal Recessive","Autosomal Recessive centronuclear myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=274[geneid]~-~601248~-","BIN1"]
["BLK","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=640[geneid]~-~191305~-","BLK"]
["BLM","Bloom syndrome","Bloom syndrome","Autosomal Recessive","Bloom syndrome:Autosomal Recessive","Bloom syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1398~604610~-","BLM"]
["BLNK","Hypogammaglobulinaemia","Hypogammaglobulinemia","Autosomal Recessive","Hypogammaglobulinemia:Autosomal Recessive","Hypogammaglobulinemia:Autosomal Recessive","HIGH","-~-~604515~-","BLNK"]
["BLOC1S3","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=388552[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1287~609762~-","BLOC1S3"]
["BLOC1S6","Hermansky-Pudlak syndrome 9","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~604310~-","BLOC1S6"]
["BLVRA","Green jaundice during cholestasis episodes","Hyperbiliverdinemia;Cholestasis","Autosomal Dominant","Hyperbiliverdinemia:Autosomal Dominant","Hyperbiliverdinemia:Autosomal Dominant","HIGH","-~-~109750~-","BLVRA"]
["BLVRA","Hyperbiliverdinaemia","Hyperbiliverdinemia","Autosomal Recessive","Hyperbiliverdinemia:Autosomal Dominant","Hyperbiliverdinemia:Autosomal Dominant","HIGH","-~-~109750~-","BLVRA"]
["BMI1","Reduced BMI-1 levels","NULL","Decreased risk (Studies performed in mice and in vitro only; PMID 19233177)","NULL","NULL","HIGH","-~-~164831~-","BMI1"]
["BMP1","Bone fragility, Autosomal Recessive","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=649[geneid]~-~112264~-","BMP1"]
["BMP1","Osteogenesis imperfecta, Autosomal Recessive","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=649[geneid]~-~112264~-","BMP1"]
["BMP15","Polycystic ovary syndrome","Polycystic ovaries","Autosomal Dominant","Ovarian dysgenesis:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","Ovarian dysgenesis:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","HIGH","-~-~300247~-","BMP15"]
["BMP15","Premature ovarian failure","Ovarian dysgenesis;Premature ovarian failure","Autosomal Dominant","Ovarian dysgenesis:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","Ovarian dysgenesis:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","HIGH","-~-~300247~-","BMP15"]
["BMP15","Premature ovarian failure & amenorrhoea","Premature ovarian failure;Amenorrhea","Autosomal Dominant","Ovarian dysgenesis:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","Ovarian dysgenesis:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","HIGH","-~-~300247~-","BMP15"]
["BMP2","Decreased mRNA stability","Osteoporosis","Risk","Brachydactyly type A2:Autosomal Dominant$Brachydactyly:Autosomal Dominant","Brachydactyly:Autosomal Dominant","HIGH","-~-~112261~-","BMP2"]
["BMP4","Anophthalmia","Anophthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Anophthalmia & blepharophimosis","Anophthalmos;Blepharophimosis","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","BMP4 variant","Neural tube defect","Risk","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Cleft lip and palate","Orofacial cleft","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Cleft lip and palate, nonsyndromic","Orofacial cleft","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Hypospadias","Hypospadias","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Microform cleft","Cleft lip","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Ocular malformation","Anophthalmos;Microphthalmos;Retinal dystrophy","Autosomal Dominant, incomplete penetrance","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Orbicularis oris defect","Cleft lip","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Renal hypodysplasia","Renal hypodysplasia","Autosomal Dominant, incomplete penetrance","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP4","Tooth agenesis","Tooth Agenesis, Familial","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Orofacial cleft:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~112262~-","BMP4"]
["BMP5","Microtia","Microtia","Risk",null,null,"HIGH","-~-~112265~-","BMP5"]
["BMP7","Eye / skeletal anomalies","Developmental delay;Deafness;Scoliosis deformity of spine;Orofacial cleft","Autosomal Dominant",null,null,"HIGH","-~-~112267~-","BMP7"]
["BMP7","Hypospadias","Hypospadias","Risk",null,null,"HIGH","-~-~112267~-","BMP7"]
["BMPER","Diaphanospondylodysostosis","Diaphanospondylodysostosis","Autosomal Recessive","Diaphanospondylodysostosis:Autosomal Recessive","Diaphanospondylodysostosis:Autosomal Recessive","HIGH","-~-~608699~-","BMPER"]
["BMPR1A","Colorectal cancer, non-polyposis","Hereditary nonpolyposis colon cancer","Autosomal Dominant;Loss of Heterozygosity","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469~601299~-","BMPR1A"]
["BMPR1A","Cowden / Bannayan-Riley-Ruvalcaba syndromes","Cowden syndrome;Bannayan syndrome","Autosomal Dominant;Loss of Heterozygosity","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469~601299~-","BMPR1A"]
["BMPR1A","Juvenile polyposis syndrome","Juvenile polyposis syndrome","Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469~601299~-","BMPR1A"]
["BMPR1A","Mixed polyposis syndrome","Familial multiple polyposis syndrome","Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469~601299~-","BMPR1A"]
["BMPR1A","Multiple adenoma","Neoplasm of large intestine","Autosomal Dominant;Loss of Heterozygosity","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469~601299~-","BMPR1A"]
["BMPR1A","Polyposis, juvenile intestinal","Juvenile polyposis syndrome","Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","Juvenile polyposis syndrome:Autosomal Dominant$Familial multiple polyposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469~601299~-","BMPR1A"]
["BMPR1B","Acromesomelic chondrodysplasia, genital anomalies","Chondrodysplasia, acromesomelic, with genital anomalies","Autosomal Recessive","Brachydactyly, type A2:Autosomal Dominant$Chondrodysplasia, acromesomelic, with genital anomalies:Autosomal Recessive$Brachydactyly:Autosomal Dominant","Chondrodysplasia, acromesomelic, with genital anomalies:Autosomal Recessive$Brachydactyly:Autosomal Dominant","HIGH","-~-~603248~-","BMPR1B"]
["BMPR1B","Brachydactyly type A2","Brachydactyly type A2","Autosomal Dominant","Brachydactyly, type A2:Autosomal Dominant$Chondrodysplasia, acromesomelic, with genital anomalies:Autosomal Recessive$Brachydactyly:Autosomal Dominant","Chondrodysplasia, acromesomelic, with genital anomalies:Autosomal Recessive$Brachydactyly:Autosomal Dominant","HIGH","-~-~603248~-","BMPR1B"]
["BMPR1B","Pulmonary arterial hypertension","Primary pulmonary hypertension","Risk","Brachydactyly, type A2:Autosomal Dominant$Chondrodysplasia, acromesomelic, with genital anomalies:Autosomal Recessive$Brachydactyly:Autosomal Dominant","Chondrodysplasia, acromesomelic, with genital anomalies:Autosomal Recessive$Brachydactyly:Autosomal Dominant","HIGH","-~-~603248~-","BMPR1B"]
["BMPR2","Pulmonary arterial hypertension","Primary pulmonary hypertension","Autosomal Dominant","Primary pulmonary hypertension:Autosomal Dominant$Drug-induced pulmonary hypertension:Autosomal Dominant$Pulmonary veno-occlusive disease:Autosomal Dominant",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=659[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1485~600799~-","BMPR2"]
["BMPR2","Pulmonary arterial hypertension, exercise-induced","Primary pulmonary hypertension","Autosomal Dominant","Primary pulmonary hypertension:Autosomal Dominant$Drug-induced pulmonary hypertension:Autosomal Dominant$Pulmonary veno-occlusive disease:Autosomal Dominant",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=659[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1485~600799~-","BMPR2"]
["BMPR2","Pulmonary hypertension, primary","Primary pulmonary hypertension","Autosomal Dominant","Primary pulmonary hypertension:Autosomal Dominant$Drug-induced pulmonary hypertension:Autosomal Dominant$Pulmonary veno-occlusive disease:Autosomal Dominant",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=659[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1485~600799~-","BMPR2"]
["BMS1","Aplasia cutis congenita","Aplasia cutis congenita","Autosomal Dominant","Aplasia cutis congenita:Autosomal Dominant","Aplasia cutis congenita:Autosomal Dominant","HIGH","-~-~611448~-","BMS1"]
["BNC2","Hypospadias","Hypospadias","Risk",null,null,"HIGH","-~-~608669~-","BNC2"]
["BNC2","Hypospadias & partial anomalous pulmonary venous return","Partial anomalous pulmonary venous connection;Hypospadias","Risk",null,null,"HIGH","-~-~608669~-","BNC2"]
["BNC2","Partial anomalous pulmonary venous return","Partial anomalous pulmonary venous connection","Risk",null,null,"HIGH","-~-~608669~-","BNC2"]
["BNC2","Total anomalous pulmonary venous return","Total anomalous pulmonary venous return","Risk",null,null,"HIGH","-~-~608669~-","BNC2"]
["BOLA3","Multiple mitochondrial dysfunctions syndrome","Multiple Mitochondrial Dysfunctions Syndrome","Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=388962[geneid]~-~613183~-","BOLA3"]
["BOLA3","Respiratory chain & 2-oxoacid dehydrogenase deficiency, combined","Deficiency in enzyme complexes of mitochondrial respiratory chain","Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=388962[geneid]~-~613183~-","BOLA3"]
["BPGM","Bisphosphoglycerate mutase deficiency","Deficiency of bisphosphoglycerate mutase","Autosomal Recessive","Deficiency of bisphosphoglycerate mutase:Autosomal Recessive","Deficiency of bisphosphoglycerate mutase:Autosomal Recessive","HIGH","-~-~613896~-","BPGM"]
["BPIFA3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic disorder:Risk","Autistic disorder:Risk",null,"-~-~-~-","BPIFA3"]
["BRAF","Cardio-facio-cutaneous syndrome","Cardio-facio-cutaneous syndrome","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~164757~-","BRAF"]
["BRAF","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~164757~-","BRAF"]
["BRAF","Colorectal cancer, somatic","Neoplasm of large intestine","Somatic Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~164757~-","BRAF"]
["BRAF","Costello syndrome","Costello syndrome","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~164757~-","BRAF"]
["BRAF","Hyperplastic polyposis syndrome","Hyperplastic polyp of intestine","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~164757~-","BRAF"]
["BRAF","Langerhans cell histiocytosis","Langerhans cell histiocytosis","Somatic Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~164757~-","BRAF"]
["BRAF","Noonan syndrome","Noonan's syndrome","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~164757~-","BRAF"]
["BRCA1","Altered radiation exposure-response relationship","Multiple malignancy","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Breast and colorectal cancer","Malignant tumor of breast;Colorectal Cancer","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Breast and/or ovarian cancer","Malignant tumor of breast;Neoplasm of ovary","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Breast cancer","Malignant tumor of breast","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Breast cancer, early-onset","Malignant tumor of breast","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Breast cancer, triple-negative","Triple-Negative Breast Cancer Finding","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Endometrial cancer","Endometrial carcinoma","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Ovarian cancer","Neoplasm of ovary","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Ovarian carcinoma","Ovarian carcinoma","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Pancreatic adenocarcinoma","Carcinoma in situ of pancreatic duct","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Pancreatic cancer","Malignant tumor of pancreas","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA1","Prostate cancer","Malignant tumor of prostate","Risk","Hereditary Breast and Ovarian Cancer Syndrome:Risk$Malignant tumor of pancreas:Risk$Multiple malignancy:Risk","Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=672[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~113705~-","BRCA1"]
["BRCA2","Altered function","NULL","No disease association mentioned","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Altered splicing","Malignant tumor of breast","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Altered transcription factor binding","Malignant tumor of breast","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Autism","Autistic Disorder","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Breast and colorectal cancer","Malignant tumor of breast;Colorectal Cancer","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Breast and/or ovarian cancer","Malignant tumor of breast;Neoplasm of ovary;","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Breast cancer","Malignant tumor of breast;","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Breast cancer, early-onset","Malignant tumor of breast","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Breast cancer, male","Carcinoma of male breast","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Breast cancer, sporadic, protection against","Malignant tumor of breast","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Breast cancer, triple-negative","Triple-Negative Breast Cancer Finding","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Ductal carcinoma in situ","Ductal carcinoma in situ","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Fallopian tube cancer","Carcinoma of fallopian tube","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Fallopian tube carcinoma","Carcinoma of fallopian tube","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Fanconi anaemia","Multiple malignancy","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Fanconi anaemia D1","Fanconi's anemia","Autosomal Recessive","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Fanconi anaemia D1","Multiple malignancy","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Intraperitoneal cancer","Multiple malignancy","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Liver cancer","Malignant neoplasm of liver","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Lung cancer","Malignant tumor of lung","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Ocular melanoma","Malignant melanoma of eye","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Oesophageal carcinoma","Carcinoma of esophagus","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Ovarian cancer","Neoplasm of ovary","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Ovarian carcinoma","Ovarian carcinoma","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Ovarian insufficiency, primary","Premature menopause","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Pancreatic adenocarcinoma","Carcinoma in situ of pancreatic duct","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Pancreatic cancer","Malignant tumor of pancreas","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Poorer survival in prostate cancer patients","Malignant tumor of prostate","Modifier","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Promyelocytic leukemia","Acute Promyelocytic Leukemia","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRCA2","Prostate cancer","Malignant tumor of prostate","Risk","Fanconi Anemia, Complementation Group D1:Autosomal Recessive$Pancreatic cancer:Autosomal Dominant$Prostate cancer:Autosomal Dominant$Nephroblastoma:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","Fanconi's anemia:Autosomal Recessive$Multiple malignancy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401$http://www.ncbi.nlm.nih.gov/books/NBK1247~600185~-","BRCA2"]
["BRD1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604589~-","BRD1"]
["BRIP1","Breast and/or ovarian cancer","Malignant tumor of breast;Neoplasm of ovary","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Fanconi Anemia, Complementation Group J:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Malignant tumor of breast:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83990[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~605882~-","BRIP1"]
["BRIP1","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Fanconi Anemia, Complementation Group J:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Malignant tumor of breast:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83990[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~605882~-","BRIP1"]
["BRIP1","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Malignant tumor of breast:Autosomal Dominant$Fanconi Anemia, Complementation Group J:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Malignant tumor of breast:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83990[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~605882~-","BRIP1"]
["BRIP1","Impaired protein translocation","Malignant tumor of breast","Risk","Malignant tumor of breast:Autosomal Dominant$Fanconi Anemia, Complementation Group J:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Malignant tumor of breast:Autosomal Dominant$Fanconi's anemia:Autosomal Recessive","LOW","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83990[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~605882~-","BRIP1"]
["BRP44L","Lactic acidosis & hyperpyruvataemia","Lactic acidosis;Disorder of pyruvate metabolism","Autosomal Recessive","Mitochondrial pyruvate carrier deficiency:Autosomal Recessive","Mitochondrial pyruvate carrier deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51660[geneid]~-~614738~-","MPC1"]
["BRSK2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609236~-","BRSK2"]
["BRWD1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","WDR9"]
["BRWD2","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive:Autosomal Recessive","HIGH","-~-~606417~-","WDR11"]
["BRWD2","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive:Autosomal Recessive","HIGH","-~-~606417~-","WDR11"]
["BRWD3","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=254065[geneid]~-~300553~-","BRWD3"]
["BSCL2","Berardinelli-Seip lipodystrophy","Familial generalized lipodystrophy","Autosomal Recessive","Berardinelli Seip Congenital Lipodystrophy Type 2:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26580[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212$http://www.ncbi.nlm.nih.gov/books/NBK1307~606158~-","BSCL2"]
["BSCL2","Charcot-Marie-Tooth disease 2","Hereditary sensory and autonomic neuropathy type II","Autosomal Dominant","Berardinelli Seip Congenital Lipodystrophy Type 2:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26580[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212$http://www.ncbi.nlm.nih.gov/books/NBK1307~606158~-","BSCL2"]
["BSCL2","Lipodystrophy, congenital generalized","Familial generalized lipodystrophy","Autosomal Recessive","Berardinelli Seip Congenital Lipodystrophy Type 2:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26580[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212$http://www.ncbi.nlm.nih.gov/books/NBK1307~606158~-","BSCL2"]
["BSCL2","Neurodegenerative syndrome","Neurodegenerative Disorder","Autosomal Recessive","Berardinelli Seip Congenital Lipodystrophy Type 2:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26580[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212$http://www.ncbi.nlm.nih.gov/books/NBK1307~606158~-","BSCL2"]
["BSCL2","Silver spastic paraplegia syndrome","Silver spastic paraplegia syndrome","Autosomal Dominant","Berardinelli Seip Congenital Lipodystrophy Type 2:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26580[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212$http://www.ncbi.nlm.nih.gov/books/NBK1307~606158~-","BSCL2"]
["BSCL2","Spinal muscular atrophy, distal","Distal spinal muscular atrophy","Autosomal Dominant","Berardinelli Seip Congenital Lipodystrophy Type 2:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Silver spastic paraplegia syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26580[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1212$http://www.ncbi.nlm.nih.gov/books/NBK1307~606158~-","BSCL2"]
["BSG","Blood group variation","Antigen in OK blood group system","Autosomal Recessive","Antigen in OK blood group system:Autosomal Recessive","Antigen in OK blood group system:Autosomal Recessive","HIGH","-~-~109480~-","BSG"]
["BSND","Bartter syndrome","Pseudoprimary aldosteronism","Autosomal Recessive","Bartter Syndrome, Type 4A:Autosomal Recessive$Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7809[geneid]~-~606412~-","BSND"]
["BSND","Bartter syndrome with sensorineural deafness","Pseudoprimary aldosteronism;Sensorineural hearing loss","Autosomal Recessive","Bartter Syndrome, Type 4A:Autosomal Recessive$Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7809[geneid]~-~606412~-","BSND"]
["BSND","Deafness, nonsyndromic","Deafness","Autosomal Recessive","Bartter Syndrome, Type 4A:Autosomal Recessive$Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7809[geneid]~-~606412~-","BSND"]
["BSND","Reduced function","Essential Hypertension","Risk","Bartter Syndrome, Type 4A:Autosomal Recessive$Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","Sensorineural Deafness With Mild Renal Dysfunction:Autosomal Recessive$Pseudoprimary aldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7809[geneid]~-~606412~-","BSND"]
["BTBD12","Breast cancer","Malignant tumor of breast","Autosomal Recessive","Fanconi anemia, complementation group P:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84464[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613278~-","SLX4"]
["BTBD12","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi anemia, complementation group P:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84464[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613278~-","SLX4"]
["BTD","Biotinidase deficiency","Biotinidase deficiency","Autosomal Recessive","Biotinidase deficiency:Autosomal Recessive","Biotinidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=686[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1322~609019~-","BTD"]
["BTD","Biotinidase deficiency, partial","Biotinidase deficiency","Autosomal Recessive","Biotinidase deficiency:Autosomal Recessive","Biotinidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=686[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1322~609019~-","BTD"]
["BTD","Multiple carboxylase deficiency","Biotinidase deficiency","Autosomal Recessive","Biotinidase deficiency:Autosomal Recessive","Biotinidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=686[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1322~609019~-","BTD"]
["BTK","Agammaglobulinaemia","Agammaglobulinemia","X-linked Recessive","X-linked agammaglobulinemia with growth hormone deficiency:X-linked Recessive$Agammaglobulinemia:X-linked Recessive$X-linked agammaglobulinemia:X-linked Recessive","Agammaglobulinemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=695[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1453~300300~-","BTK"]
["BTK","Hyper-IgM syndrome","X-linked hyper-IgM syndrome","X-linked Recessive","X-linked agammaglobulinemia with growth hormone deficiency:X-linked Recessive$Agammaglobulinemia:X-linked Recessive$X-linked agammaglobulinemia:X-linked Recessive","Agammaglobulinemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=695[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1453~300300~-","BTK"]
["BTK","Isolated growth hormone deficiency, type III","Immunoglobulinemia with isolated somatotropin deficiency","X-linked Recessive","X-linked agammaglobulinemia with growth hormone deficiency:X-linked Recessive$Agammaglobulinemia:X-linked Recessive$X-linked agammaglobulinemia:X-linked Recessive","Agammaglobulinemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=695[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1453~300300~-","BTK"]
["BTK","Primary immunodeficiency disease","Primary immune deficiency disorder","X-linked Recessive","X-linked agammaglobulinemia with growth hormone deficiency:X-linked Recessive$Agammaglobulinemia:X-linked Recessive$X-linked agammaglobulinemia:X-linked Recessive","Agammaglobulinemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=695[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1453~300300~-","BTK"]
["BTN1A1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601610~-","BTN1A1"]
["BUB1","Autism spectrum disorder","Autistic Disorder","Risk","Colorectal cancer:Autosomal Dominant","Colorectal cancer:Autosomal Dominant","HIGH","-~-~602452~-","BUB1"]
["BUB1B","Colorectal cancer","Colorectal Cancer","Risk","Colorectal cancer:Risk$Mosaic variegated aneuploidy syndrome:Autosomal Recessive$Premature chromatid separation trait:Autosomal Dominant","Colorectal cancer:Risk$Mosaic variegated aneuploidy syndrome:Autosomal Recessive$Premature chromatid separation trait:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=701[geneid]~-~602860~-","BUB1B"]
["BUB1B","Mosaic variegated aneuploidy","Mosaic variegated aneuploidy syndrome","Autosomal Recessive","Colorectal cancer:Risk$Mosaic variegated aneuploidy syndrome:Autosomal Recessive$Premature chromatid separation trait:Autosomal Dominant","Colorectal cancer:Risk$Mosaic variegated aneuploidy syndrome:Autosomal Recessive$Premature chromatid separation trait:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=701[geneid]~-~602860~-","BUB1B"]
["BUB1B","Premature chromatid separation syndrome","Premature chromatid separation trait","Autosomal Dominant","Colorectal cancer:Risk$Mosaic variegated aneuploidy syndrome:Autosomal Recessive$Premature chromatid separation trait:Autosomal Dominant","Colorectal cancer:Risk$Mosaic variegated aneuploidy syndrome:Autosomal Recessive$Premature chromatid separation trait:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=701[geneid]~-~602860~-","BUB1B"]
["BUP1","Beta-ureidopropionase deficiency","Deficiency of beta-ureidopropionase","Autosomal Recessive","Deficiency of beta-ureidopropionase:Autosomal Recessive","Deficiency of beta-ureidopropionase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51733[geneid]~-~606673~-","UPB1"]
["BUP1","Ureidopropionase deficiency","Deficiency of beta-ureidopropionase","Autosomal Recessive","Deficiency of beta-ureidopropionase:Autosomal Recessive","Deficiency of beta-ureidopropionase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51733[geneid]~-~606673~-","UPB1"]
["BVES","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant",null,null,"HIGH","-~-~604577~-","BVES"]
["C10orf11","Albinism, Autosomal Recessive","Albinism","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive","HIGH","-~-~614537~-","C10orf11"]
["C10orf137","Colorectal cancer","Colorectal Cancer","Risk",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26098[geneid]~-~-~-","C10orf137"]
["C10orf2","Cholestatic liver disease in infancy","Hepatic failure","Autosomal Dominant","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Dementia, late-onset","Primary degenerative dementia of the Alzheimer type, senile onset","Autosomal Dominant","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Encephalopathy, early-onset","Encephalopathy","Autosomal Recessive","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Mitochondrial DNA depletion syndrome","Depletion of mitochondrial DNA","Autosomal Dominant","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Ocular myopathy","Ocular muscular dystrophy","Autosomal Dominant","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Progressive external ophthalmoplegia","Progressive external ophthalmoplegia","Autosomal Dominant","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Progressive external ophthalmoplegia & multisystem failure","Progressive external ophthalmoplegia","Autosomal Dominant","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Reduced expression","Spinocerebellar ataxia","Autosomal Dominant","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf2","Spirocerebellar ataxia, infantile onset","Spinocerebellar ataxia","Autosomal Recessive","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type):Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia, Autosomal Dominant, 3:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56652[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3795~606075~-","C10orf2"]
["C10orf65","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Primary hyperoxaluria:Autosomal Recessive$Primary hyperoxaluria:Autosomal Recessive","Primary hyperoxaluria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112817[geneid]~-~613597~-","HOGA1"]
["C10orf65","Hyperoxaluria, primary type III","Primary hyperoxaluria","Autosomal Recessive","Primary hyperoxaluria:Autosomal Recessive$Primary hyperoxaluria:Autosomal Recessive","Primary hyperoxaluria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112817[geneid]~-~613597~-","HOGA1"]
["C11orf40","Fibromyalgia syndrome","Fibromyositis","Autosomal Dominant",null,null,null,"-~-~-~-","C11orf40"]
["C11orf46","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~612295~-","ARL14EP"]
["C12orf10","Altered subcellular localization","Vitiligo","Risk",null,null,"HIGH","-~-~611366~-","C12orf10"]
["C12orf41","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","KANSL2"]
["C12orf57","Intellectual disability","Intellectual Disability","Risk","Temtamy syndrome:Autosomal Recessive","Temtamy syndrome:Autosomal Recessive","HIGH","-~-~615140~-","C12orf57"]
["C12orf57","Microphthalmia, colobomatous","Microphthalmia and mental deficiency","Autosomal Recessive","Temtamy syndrome:Autosomal Recessive","Temtamy syndrome:Autosomal Recessive","HIGH","-~-~615140~-","C12orf57"]
["C12orf62","Lactic acidosis, fatal neonatal","Lactic acidosis","Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84987[geneid]~-~614478~-","COX14"]
["C12orf65","Combined Oxidative Phosphorylation Deficiency","Combined Oxidative Phosphorylation Deficiency","Autosomal Recessive","Combined oxidative phosphorylation deficiency 7:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia 55, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91574[geneid]~-~613541~-","C12orf65"]
["C12orf65","Leigh syndrome, optic atrophy & ophthalmoplegia","Leigh's disease;Optic atrophy;Ophthalmoplegia","Autosomal Recessive","Combined oxidative phosphorylation deficiency 7:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia 55, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91574[geneid]~-~613541~-","C12orf65"]
["C12orf65","Spastic paraplegia","Spastic paraplegia","Autosomal Recessive","Combined oxidative phosphorylation deficiency 7:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia 55, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91574[geneid]~-~613541~-","C12orf65"]
["C12orf65","Spastic paraplegia with optic atrophy & neuropathy","Spastic Paraplegia, Optic Atrophy, and Neuropathy","Autosomal Recessive","Combined oxidative phosphorylation deficiency 7:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia 55, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91574[geneid]~-~613541~-","C12orf65"]
["C14orf104","Ciliary dyskinesia, primary","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Ciliary Dyskinesia, Primary, 10:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~612517~-","DNAAF2"]
["C14orf105","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","C14orf105"]
["C14orf179","Cranioectodermal dysplasia","Cranioectodermal dysplasia","Autosomal Recessive","Cranioectodermal dysplasia:Autosomal Recessive$Cranioectodermal dysplasia 3:Autosomal Recessive","Cranioectodermal dysplasia:Autosomal Recessive","HIGH","-~-~614068~-","IFT43"]
["C16orf57","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","HIGH","-~-~613276~-","USB1"]
["C16orf57","Poikiloderma","Poikiloderma","Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","HIGH","-~-~613276~-","USB1"]
["C16orf57","Poikiloderma with neutropenia","Poikiloderma;Neutropenic disorder","Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","HIGH","-~-~613276~-","USB1"]
["C16orf57","Poikiloderma, clericuzio-type with neutropenia","Poikiloderma;Neutropenic disorder","Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","HIGH","-~-~613276~-","USB1"]
["C16orf57","Rothmund-Thomson syndrome","Rothmund-Thomson syndrome","Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","Poikiloderma with Neutropenia:Autosomal Recessive$Poikiloderma:Autosomal Recessive$Neutropenic disorder:Autosomal Recessive","HIGH","-~-~613276~-","USB1"]
["C17orf68","Cerebroretinal microangiopathy with calcifications & cysts","Cerebroretinal Microangiopathy with Calcifications and Cysts","Autosomal Recessive","Cerebroretinal Microangiopathy with Calcifications and Cysts:Autosomal Recessive","Cerebroretinal Microangiopathy with Calcifications and Cysts:Autosomal Recessive","HIGH","-~-~613129~-","CTC1"]
["C17orf68","Coats plus","Coats Plus Syndrome","Autosomal Recessive","Cerebroretinal Microangiopathy with Calcifications and Cysts:Autosomal Recessive","Cerebroretinal Microangiopathy with Calcifications and Cysts:Autosomal Recessive","HIGH","-~-~613129~-","CTC1"]
["C18orf26","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284254[geneid]~-~-~-","DYNAP"]
["C19orf12","Neurodegeneration with brain iron accumulation","Neurodegeneration with brain iron accumulation 4","Autosomal Recessive","Spastic paraplegia 43, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive$Neurodegeneration with brain iron accumulation 4:Autosomal Recessive$Neurodegeneration with brain iron accumulation (NBIA):Autosomal Recessive","$Spastic paraplegia:Autosomal Recessive$Neurodegeneration with brain iron accumulation (NBIA):Autosomal Recessive","HIGH","-~-~614297~-","C19orf12"]
["C1orf127","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","C1orf127"]
["C1orf168","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","C1orf168"]
["C1QA","C1Q deficiency, type A","Complement 1q deficiency","Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","HIGH","-~-~120550~-","C1QA"]
["C1QB","C1Q deficiency, type B","Complement 1q deficiency","Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","HIGH","-~-~120570~-","C1QB"]
["C1QB","Lupus with neurological manifestations & multiple infections","Complement 1q deficiency","Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","HIGH","-~-~120570~-","C1QB"]
["C1QC","C1Q deficiency, type C","Complement 1q deficiency","Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","Complement 1q deficiency:Autosomal Recessive","HIGH","-~-~120575~-","C1QC"]
["C1S","Complement C1S abnormality","Complement 1s deficiency","Autosomal Recessive","Complement 1s deficiency:Autosomal Recessive","Complement 1s deficiency:Autosomal Recessive","HIGH","-~-~120580~-","C1S"]
["C1S","Complement C1S deficiency","Complement 1s deficiency","Autosomal Recessive","Complement 1s deficiency:Autosomal Recessive","Complement 1s deficiency:Autosomal Recessive","HIGH","-~-~120580~-","C1S"]
["C2","Age-related macular degeneration","Age-related macular degeneration","Decreased Risk","C2 deficiency:Autosomal Recessive","C2 deficiency:Autosomal Recessive","HIGH","-~-~613927~-","C2"]
["C2","Complement C2 deficiency","Complement component 2 deficiency","Autosomal Recessive","C2 deficiency:Autosomal Recessive","C2 deficiency:Autosomal Recessive","HIGH","-~-~613927~-","C2"]
["C20orf111","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","C20orf111"]
["C20orf54","Brown-Vialetto-Van Laere syndrome","Progressive bulbar palsy","Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","HIGH","-~-~613350~-","SLC52A3"]
["C20orf54","Brown-Vialetto-Van Laere syndrome","Sensorineural hearing loss","Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","HIGH","-~-~613350~-","SLC52A3"]
["C20orf54","Fazio Londe syndrome","Progressive bulbar palsy of childhood","Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","HIGH","-~-~613350~-","SLC52A3"]
["C20orf7","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79133[geneid]~-~612360~-","NDUFAF5"]
["C20orf7","Leigh syndrome","Leigh's disease","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79133[geneid]~-~612360~-","NDUFAF5"]
["C20orf7","Mitochondrial complex 1 deficiency, neonatal","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79133[geneid]~-~612360~-","NDUFAF5"]
["C21orf29","Sensorineural deafness","Sensorineural hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~612920~-","TSPEAR"]
["C2CD3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","C2CD3"]
["C2orf37","Woodhouse-Sakati syndrome","Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities","Autosomal Recessive","Woodhouse Sakati syndrome:Autosomal Recessive$Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities:Autosomal Recessive","Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80067[geneid]~-~612515~-","DCAF17"]
["C2orf42","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54980[geneid]~-~-~-","C2orf42"]
["C2orf56","Complex I deficiency","Leigh's disease","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive",null,"-~-~-~-","C2orf56"]
["C2orf71","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa 54:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=388939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~613425~-","C2orf71"]
["C2orf71","Retinitis pigmentosa, Autosomal Recessive","Autosomal Recessive retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa 54:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=388939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~613425~-","C2orf71"]
["C2orf71","Retinitis pigmentosa, cone-rod dystrophy type","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa 54:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=388939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~613425~-","C2orf71"]
["C2orf86","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51057[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~613580~-","WDPCP"]
["C2orf86","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51057[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~613580~-","WDPCP"]
["C3","Autism","Autistic Disorder","Risk","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=718[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120700~-","C3"]
["C3","Complement C3 deficiency","Factor I deficiency","Autosomal Recessive","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=718[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120700~-","C3"]
["C3","Dense deposit disease","Nephrotic syndrome, dense deposit disease","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=718[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120700~-","C3"]
["C3","Haemolytic uraemic syndrome","Hemolytic uremic syndrome","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=718[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120700~-","C3"]
["C3","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=718[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120700~-","C3"]
["C3","Macular degeneration, age related, protection against","Age-related macular degeneration","Decreased Risk","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=718[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120700~-","C3"]
["C3","Thrombotic microangiopathy","Thrombotic microangiopathy","Modifier","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=718[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120700~-","C3"]
["C3AR1","Dense deposit disease","Nephrotic syndrome, dense deposit disease","Risk","Nephrotic syndrome, dense deposit disease:Risk","Nephrotic syndrome, dense deposit disease:Risk","HIGH","-~-~605246~-","C3AR1"]
["C4A","Complement C4a deficiency","Complement Component 4a Deficiency","Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive$Complement Component 4a Deficiency:Autosomal Recessive$Antigen in Chido-Rodgers blood group system:Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive$Complement Component 4a Deficiency:Autosomal Recessive$Antigen in Chido-Rodgers blood group system:Autosomal Recessive","HIGH","-~-~120810~-","C4A"]
["C4A","Complement C4b deficiency","Complement Component 4b Deficiency;Antigen in Chido-Rodgers blood group system","Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive$Complement Component 4a Deficiency:Autosomal Recessive$Antigen in Chido-Rodgers blood group system:Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive$Complement Component 4a Deficiency:Autosomal Recessive$Antigen in Chido-Rodgers blood group system:Autosomal Recessive","HIGH","-~-~120810~-","C4A"]
["C4A","Systemic lupus erythematosus","Systemic lupus erythematosus","Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive$Complement Component 4a Deficiency:Autosomal Recessive$Antigen in Chido-Rodgers blood group system:Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive$Complement Component 4a Deficiency:Autosomal Recessive$Antigen in Chido-Rodgers blood group system:Autosomal Recessive","HIGH","-~-~120810~-","C4A"]
["C4orf26","Amelogenesis imperfecta","Amelogenesis imperfecta","Autosomal Recessive","Amelogenesis imperfecta, hypomaturation type:Autosomal Recessive","Amelogenesis imperfecta, hypomaturation type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=152816[geneid]~-~614829~-","C4orf26"]
["C5","Complement C5 deficiency","Single complement C5 deficiency or dysfunction","Autosomal Dominant","Complement 5 deficiency:Autosomal Dominant","Complement 5 deficiency:Autosomal Dominant","HIGH","-~-~120900~-","C5"]
["C5orf42","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Joubert syndrome 17:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65250[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~614571~-","C5orf42"]
["C6","Complement C6 deficiency","Single complement C6 deficiency or dysfunction","Autosomal Recessive","Complement 6 deficiency:Autosomal Recessive$Complement 6 deficiency:Autosomal Dominant$Combined complement 6 and 7 deficiencies:Autosomal Dominant","Complement 6 deficiency:Autosomal Recessive$Complement 6 deficiency:Autosomal Dominant$Combined complement 6 and 7 deficiencies:Autosomal Dominant","HIGH","-~-~217050~-","C6"]
["C6","Complement C6 deficiency, subtotal","Single complement C6 deficiency or dysfunction","Autosomal Dominant","Complement 6 deficiency:Autosomal Recessive$Complement 6 deficiency:Autosomal Dominant$Combined complement 6 and 7 deficiencies:Autosomal Dominant","Complement 6 deficiency:Autosomal Recessive$Complement 6 deficiency:Autosomal Dominant$Combined complement 6 and 7 deficiencies:Autosomal Dominant","HIGH","-~-~217050~-","C6"]
["C6orf174","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","C6orf174"]
["C6orf221","Hydatidiform mole, familial biparental","Hydatidiform mole","Autosomal Recessive","Hydatidiform mole, recurrent, 2:Autosomal Recessive$Hydatidiform mole:Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","HIGH","-~-~611687~-","KHDC3L"]
["C6orf66","Complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29078[geneid]~-~611776~-","NDUFAF4"]
["C7","Complement C7 deficiency","Single complement C7 deficiency or dysfunction","Autosomal Recessive","Complement 7 deficiency:Autosomal Recessive","Complement 7 deficiency:Autosomal Recessive","HIGH","-~-~217070~-","C7"]
["C7","Complement C7 deficiency, complete","Single complement C7 deficiency or dysfunction","Autosomal Recessive","Complement 7 deficiency:Autosomal Recessive","Complement 7 deficiency:Autosomal Recessive","HIGH","-~-~217070~-","C7"]
["C7orf10","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Glutaric aciduria:Autosomal Recessive","Glutaric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79783[geneid]~-~609187~-","C7orf10"]
["C7orf10","Glutaric aciduria 3","Glutaric aciduria","Autosomal Recessive","Glutaric aciduria:Autosomal Recessive","Glutaric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79783[geneid]~-~609187~-","C7orf10"]
["C7orf11","Trichothiodystrophy, nonphotosensitive","BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome","Autosomal Recessive","BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive","BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive","HIGH","-~-~609188~-","MPLKIP"]
["C7orf27","Lethal neonatal rigidity & seizure syndrome","Rigidity and multifocal seizure syndrome, lethal neonatal","Autosomal Recessive","Rigidity and multifocal seizure syndrome, lethal neonatal:Autosomal Recessive","Rigidity and multifocal seizure syndrome, lethal neonatal:Autosomal Recessive","HIGH","-~-~614506~-","BRAT1"]
["C7orf43","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55262[geneid]~-~-~-","C7orf43"]
["C8A","Complement C8 alpha-gamma deficiency","Single complement C8 deficiency or dysfunction","Autosomal Recessive","Complement 8 alpha-gamma deficiency:Autosomal Recessive","Complement 8 alpha-gamma deficiency:Autosomal Recessive","HIGH","-~-~120950~-","C8A"]
["C8A","Dense deposit disease","NULL","No PMID in HGMD","NULL","NULL","HIGH","-~-~120950~-","C8A"]
["C8B","Complement C8b deficiency","Single complement C8 deficiency or dysfunction","Autosomal Recessive","Complement 8 beta chain deficiency:Autosomal Recessive","Complement 8 beta chain deficiency:Autosomal Recessive","HIGH","-~-~120960~-","C8B"]
["C8orf37","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~614477~-","C8orf37"]
["C8orf37","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~614477~-","C8orf37"]
["C8orf38","Complex I deficiency","Leigh's disease;Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=137682[geneid]~-~612392~-","NDUFAF6"]
["C8orf41","Intellectual disability","Intellectual Disability","Risk","Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","-~-~614426~-","TTI2"]
["C9","Complement C9 deficiency","Dermatomyositis;Single complement C9 deficiency or dysfunction","Autosomal Recessive","Complement 9 deficiency:Autosomal Recessive","Complement 9 deficiency:Autosomal Recessive","HIGH","-~-~120940~-","C9"]
["C9orf75","Deafness, nonsyndromic","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~613354~-","TPRN"]
["C9orf86","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~-~-","C9orf86"]
["CA1","Carbonic anhydrase deficiency","Deficiency of carbonate dehydratase","Autosomal Dominant","Deficiency of carbonate dehydratase:Autosomal Dominant","Deficiency of carbonate dehydratase:Autosomal Dominant","HIGH","-~-~114800~-","CA1"]
["CA12","Hyperchlorhidrosis","Hyperchlorhidrosis, isolated","Autosomal Recessive","Hyperchlorhidrosis, isolated:Autosomal Recessive","Hyperchlorhidrosis, isolated:Autosomal Recessive","HIGH","-~-~603263~-","CA12"]
["CA2","Carbonic anhydrase deficiency","Deficiency of carbonate dehydratase;Osteopetrosis with renal tubular acidosis","Autosomal Recessive","Osteopetrosis with renal tubular acidosis:Autosomal Recessive","Osteopetrosis with renal tubular acidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=760[geneid]~-~611492~-","CA2"]
["CA4","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=762[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~114760~-","CA4"]
["CA4","Rod and cone photoreceptor degeneration","Progressive cone-rod dystrophy","Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=762[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~114760~-","CA4"]
["CA8","Ataxia, cerebellar hypoplasia","Cerebellar ataxia","Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3:Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=767[geneid]~-~114815~-","CA8"]
["CA8","Cerebellar ataxia and quadrupedal locomotion","Cerebellar ataxia;Dysequilibrium syndrome","Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3:Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=767[geneid]~-~114815~-","CA8"]
["CA8","Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3","Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3:Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=767[geneid]~-~114815~-","CA8"]
["CABC1","Cerebellar ataxia, adult-onset","Late onset cerebellar ataxia","Autosomal Recessive","Spinocerebellar Ataxia, Autosomal Recessive 9:Autosomal Recessive$Spinocerebellar Ataxia:Autosomal Recessive$Coenzyme Q10 Deficiency:Autosomal Recessive","Spinocerebellar Ataxia:Autosomal Recessive$Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56997[geneid]~-~606980~-","ADCK3"]
["CABC1","Progessive cerebellar ataxia and atrophy","Progressive cerebellar ataxia;Atrophy","Autosomal Recessive","Spinocerebellar Ataxia, Autosomal Recessive 9:Autosomal Recessive$Spinocerebellar Ataxia:Autosomal Recessive$Coenzyme Q10 Deficiency:Autosomal Recessive","Spinocerebellar Ataxia:Autosomal Recessive$Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56997[geneid]~-~606980~-","ADCK3"]
["CABC1","Ubiquinone deficiency with cerebellar ataxia","Coenzyme Q10 Deficiency;Cerebellar ataxia","Autosomal Recessive","Spinocerebellar Ataxia, Autosomal Recessive 9:Autosomal Recessive$Spinocerebellar Ataxia:Autosomal Recessive$Coenzyme Q10 Deficiency:Autosomal Recessive","Spinocerebellar Ataxia:Autosomal Recessive$Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56997[geneid]~-~606980~-","ADCK3"]
["CABIN1","Neurofibromatosis 2","Neurofibromatosis, type 2","Risk",null,null,"HIGH","-~-~604251~-","CABIN1"]
["CABIN1","Schwannomatosis","Trigeminal schwannoma","Risk",null,null,"HIGH","-~-~604251~-","CABIN1"]
["CABP2","Hearing impairment, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~607314~-","CABP2"]
["CABP4","Cone-rod synaptic disorder","Reduced visual acuity;Nystagmus;Photophobia","Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive$Night blindness, congenital stationary (incomplete), 2B, Autosomal Recessive:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~608965~-","CABP4"]
["CABP4","Leber congenital amaurosis-like phenotype","Retinitis pigmentosa","Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive$Night blindness, congenital stationary (incomplete), 2B, Autosomal Recessive:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~608965~-","CABP4"]
["CABP4","Night blindness, Autosomal Recessive","Congenital stationary night blindness","Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive$Night blindness, congenital stationary (incomplete), 2B, Autosomal Recessive:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~608965~-","CABP4"]
["CACHD1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57685[geneid]~-~-~-","CACHD1"]
["CACNA1A","Ataxia, mental retardation and dyskinesia","Ataxia;Mental retardation;Dyskinesia","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Cerebellar ataxia","Cerebellar ataxia","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Epilepsy, idiopathic","Idiopathic generalized epilepsy","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Episodic ataxia","Episodic ataxia","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Episodic ataxia 2","Episodic ataxia type 2","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Episodic seizures, ataxia, and migraine with motor regression","Isolated seizures;Ataxia;Migraine;Motor regression","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Head tremor","Isolated head tremor","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine","Hemiplegic migraine","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine and ataxia","Hemiplegic migraine;Ataxia","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine and episodic ataxia 2","Hemiplegic migraine;Episodic ataxia type 2","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine with cerebellar signs","Hemiplegic migraine;Cerebellar disorder","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine, cerebellar dysfunction & cognitive decline","Hemiplegic migraine;Cerebellar disorder;Cognitive decline","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine, coma, cerebellar atrophy","Hemiplegic migraine;Coma;Cerebellar disorder","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine, progressive cerebellar ataxia","Hemiplegic migraine;Progressive cerebellar ataxia","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Hemiplegic migraine/alternating hemiplegia of childhood","Hemiplegic migraine;Alternating hemiplegia of childhood","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Nystagmus and late-onset ataxia","Nystagmus;Late onset cerebellar ataxia","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1A","Spinocerebellar ataxia 6","Spinocerebellar ataxia","Autosomal Dominant","Episodic ataxia type 2:Autosomal Dominant$Episodic ataxia:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant$Hemiplegic migraine, familial type 1:Autosomal Dominant$Spinocerebellar ataxia 6:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Hemiplegic migraine:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1388$http://www.ncbi.nlm.nih.gov/books/NBK1140$http://www.ncbi.nlm.nih.gov/books/NBK1501~601011~-","CACNA1A"]
["CACNA1C","Autism spectrum disorder","Autistic Disorder","Risk","Brugada Syndrome 3:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=775[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1403$http://www.ncbi.nlm.nih.gov/books/NBK1517~114205~-","CACNA1C"]
["CACNA1C","Brugada syndrome ","Brugada syndrome","Autosomal Dominant","Brugada Syndrome 3:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=775[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1403$http://www.ncbi.nlm.nih.gov/books/NBK1517~114205~-","CACNA1C"]
["CACNA1C","Cardiac arrhythmia","Conduction disorder of the heart","Risk","Brugada Syndrome 3:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=775[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1403$http://www.ncbi.nlm.nih.gov/books/NBK1517~114205~-","CACNA1C"]
["CACNA1C","Early repolarization syndrome","Early repolarization","Autosomal Dominant","Brugada Syndrome 3:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=775[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1403$http://www.ncbi.nlm.nih.gov/books/NBK1517~114205~-","CACNA1C"]
["CACNA1C","Long QT syndrome","Long QT syndrome","Risk","Brugada Syndrome 3:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=775[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1403$http://www.ncbi.nlm.nih.gov/books/NBK1517~114205~-","CACNA1C"]
["CACNA1C","Timothy syndrome","Timothy syndrome","Autosomal Dominant","Brugada Syndrome 3:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Timothy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=775[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1403$http://www.ncbi.nlm.nih.gov/books/NBK1517~114205~-","CACNA1C"]
["CACNA1D","Autism","Autistic Disorder","Risk","Primary hyperaldosteronism, Seizure, and Congenital anomaly of nervous system:Autosomal Recessive$Sinoatrial node dysfunction and deafness:Autosomal Recessive$Deafness:Autosomal Recessive","Primary hyperaldosteronism, Seizure, and Congenital anomaly of nervous system:Autosomal Recessive$Sinoatrial node dysfunction and deafness:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=776[geneid]~-~114206~-","CACNA1D"]
["CACNA1D","Deafness and brachycardia","Deafness;Bradycardia","Autosomal Recessive","Primary hyperaldosteronism, Seizure, and Congenital anomaly of nervous system:Autosomal Recessive$Sinoatrial node dysfunction and deafness:Autosomal Recessive$Deafness:Autosomal Recessive","Primary hyperaldosteronism, Seizure, and Congenital anomaly of nervous system:Autosomal Recessive$Sinoatrial node dysfunction and deafness:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=776[geneid]~-~114206~-","CACNA1D"]
["CACNA1E","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601013~-","CACNA1E"]
["CACNA1F","Aland island eye disease & stationary night blindness","Ocular albinism, type II;Congenital stationary night blindness","X-linked Recessive","Ocular albinism, type II:X-linked Recessive$Progressive cone-rod dystrophy:X-linked Recessive$Cone-Rod Dystrophy, X-Linked, 3:X-linked Recessive$Night blindness, congenital stationary (incomplete), 2A, X-linked:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","Progressive cone-rod dystrophy:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300110~-","CACNA1F"]
["CACNA1F","Cone-rod dystrophy, X-linked","Cone-Rod Dystrophy, X-Linked, 3","X-linked Recessive","Ocular albinism, type II:X-linked Recessive$Progressive cone-rod dystrophy:X-linked Recessive$Cone-Rod Dystrophy, X-Linked, 3:X-linked Recessive$Night blindness, congenital stationary (incomplete), 2A, X-linked:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","Progressive cone-rod dystrophy:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive",null,"-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300110~-","CACNA1F"]
["CACNA1F","Night blindness, congenital stationary, incomplete","Congenital stationary night blindness","X-linked Recessive","Ocular albinism, type II:X-linked Recessive$Progressive cone-rod dystrophy:X-linked Recessive$Cone-Rod Dystrophy, X-Linked, 3:X-linked Recessive$Night blindness, congenital stationary (incomplete), 2A, X-linked:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","Progressive cone-rod dystrophy:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive",null,"-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300110~-","CACNA1F"]
["CACNA1F","Retinal disorder, X-linked","Retinal disorder","X-linked Dominant","Ocular albinism, type II:X-linked Recessive$Progressive cone-rod dystrophy:X-linked Recessive$Cone-Rod Dystrophy, X-Linked, 3:X-linked Recessive$Night blindness, congenital stationary (incomplete), 2A, X-linked:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","Progressive cone-rod dystrophy:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300110~-","CACNA1F"]
["CACNA1F","Stationary night blindness, congenital","Congenital stationary night blindness","X-linked Recessive","Ocular albinism, type II:X-linked Recessive$Progressive cone-rod dystrophy:X-linked Recessive$Cone-Rod Dystrophy, X-Linked, 3:X-linked Recessive$Night blindness, congenital stationary (incomplete), 2A, X-linked:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","Progressive cone-rod dystrophy:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300110~-","CACNA1F"]
["CACNA1F","Usher syndrome","Retinitis pigmentosa-deafness syndrome","X-linked Recessive","Ocular albinism, type II:X-linked Recessive$Progressive cone-rod dystrophy:X-linked Recessive$Cone-Rod Dystrophy, X-Linked, 3:X-linked Recessive$Night blindness, congenital stationary (incomplete), 2A, X-linked:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","Progressive cone-rod dystrophy:X-linked Recessive$Congenital stationary night blindness:X-linked Recessive$Ocular albinism:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300110~-","CACNA1F"]
["CACNA1G","Myoclonic epilepsy, juvenile","Juvenile myoclonic epilepsy","Risk","Juvenile myoclonic epilepsy:Risk","Juvenile myoclonic epilepsy:Risk","HIGH","-~-~604065~-","CACNA1G"]
["CACNA1H","Altered channel function","Generalized epilepsy","Risk","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8912[geneid]~-~607904~-","CACNA1H"]
["CACNA1H","Autism spectrum disorder","Autistic Disorder","Risk","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8912[geneid]~-~607904~-","CACNA1H"]
["CACNA1H","Epilepsy, childhood absence","Childhood absence epilepsy","Autosomal Dominant","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8912[geneid]~-~607904~-","CACNA1H"]
["CACNA1H","Idiopathic epilepsy, generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","Childhood absence epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Generalized epilepsy:Risk$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8912[geneid]~-~607904~-","CACNA1H"]
["CACNA1S","Hypokalaemic periodic paralysis","Hypokalemic periodic paralysis","Autosomal Dominant","Hypokalemic periodic paralysis:Autosomal Dominant","Hypokalemic periodic paralysis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=779[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1146$http://www.ncbi.nlm.nih.gov/books/NBK1338~114208~-","CACNA1S"]
["CACNA1S","Malignant hyperthermia","Malignant hyperthermia","Autosomal Recessive","Hypokalemic periodic paralysis:Autosomal Dominant","Hypokalemic periodic paralysis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=779[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1146$http://www.ncbi.nlm.nih.gov/books/NBK1338~114208~-","CACNA1S"]
["CACNA2D1","Brugada syndrome","Brugada syndrome","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=781[geneid]~-~114204~-","CACNA2D1"]
["CACNA2D1","Short QT syndrome","Conduction disorder of the heart;Short QT syndrome","Autosomal Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=781[geneid]~-~114204~-","CACNA2D1"]
["CACNA2D2","Epileptic encephalopathy, early infantile","Early myoclonic encephalopathy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","-~-~607082~-","CACNA2D2"]
["CACNA2D3","Autism","Autistic Disorder","Autosomal Recessive","NULL","NULL","HIGH","-~-~606399~-","CACNA2D3"]
["CACNA2D4","Cone dystrophy","Cone dystrophy","Autosomal Recessive","Cone dystrophy:Autosomal Recessive$Retinal Cone Dystrophy 4:Autosomal Recessive","Cone dystrophy:Autosomal Recessive","HIGH","-~-~608171~-","CACNA2D4"]
["CACNB2","Altered function","Conduction disorder of the heart","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 4:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=783[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600003~-","CACNB2"]
["CACNB2","Brugada syndrome ","Brugada syndrome","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 4:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=783[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600003~-","CACNB2"]
["CACNB2","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 4:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=783[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600003~-","CACNB2"]
["CACNB2","Early repolarization syndrome","Early repolarization","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 4:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=783[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600003~-","CACNB2"]
["CACNB2","Ventricular fibrillation, idiopathic","Ventricular fibrillation","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 4:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=783[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600003~-","CACNB2"]
["CACNB4","Episodic ataxia","Episodic ataxia","Autosomal Dominant","Episodic ataxia:Autosomal Dominant$Episodic Ataxia, Type 5:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=785[geneid]~-~601949~-","CACNB4"]
["CACNB4","Idiopathic epilepsy, generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Episodic ataxia:Autosomal Dominant$Episodic Ataxia, Type 5:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=785[geneid]~-~601949~-","CACNB4"]
["CACNB4","Myoclonic epilepsy, juvenile","Juvenile myoclonic epilepsy","Autosomal Dominant","Episodic ataxia:Autosomal Dominant$Episodic Ataxia, Type 5:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=785[geneid]~-~601949~-","CACNB4"]
["CACNG2","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~602911~-","CACNG2"]
["CADM1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605686~-","CADM1"]
["CALM1","Cardiac arrest","Cardiac arrest","Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=801[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1289~114180~-","CALM1"]
["CALM1","Catecholaminergic polymorphic ventricular tachycardia","Catecholaminergic polymorphic ventricular tachycardia","Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=801[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1289~114180~-","CALM1"]
["CALM2","Cardiac arrest","Cardiac arrest","Autosomal Dominant",null,null,"HIGH","-~-~114182~-","CALM2"]
["CALR","Schizoaffective disorder","Schizoaffective disorder","Risk",null,null,"HIGH","-~-~109091~-","CALR"]
["CALR","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~109091~-","CALR"]
["CALR3","Cardiomyopathy, hypertropic","Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Primary familial hypertrophic cardiomyopathy:Autosomal Dominant","Primary familial hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=125972[geneid]~-~611414~-","CALR3"]
["CAMK4","Azoospermia","Azoospermia","Risk","Primary spermatogenic failure:Risk","Primary spermatogenic failure:Risk","HIGH","-~-~114080~-","CAMK4"]
["CANT1","Desbuquois dysplasia, Kim variant","Desbuquois syndrome","Autosomal Recessive","Desbuquois syndrome:Autosomal Recessive","Desbuquois syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124583[geneid]~-~613165~-","CANT1"]
["CANT1","Desbuquois dysplasia, type 1","Desbuquois syndrome","Autosomal Recessive","Desbuquois syndrome:Autosomal Recessive","Desbuquois syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124583[geneid]~-~613165~-","CANT1"]
["CANT1","Desbuquois dysplasia, type 2","Desbuquois syndrome","Autosomal Recessive","Desbuquois syndrome:Autosomal Recessive","Desbuquois syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124583[geneid]~-~613165~-","CANT1"]
["CAPN10","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605286~22495306","CAPN10"]
["CAPN3","HyperCKemia","Limb-girdle muscular dystrophy","Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy type 2A:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=825[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1313~114240~-","CAPN3"]
["CAPN3","Idiopathic eosinophilic myositis","Eosinophilic myositis","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy type 2A:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=825[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1313~114240~-","CAPN3"]
["CAPN3","Muscular dystrophy","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy type 2A:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=825[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1313~114240~-","CAPN3"]
["CAPN3","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy type 2A:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=825[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1313~114240~-","CAPN3"]
["CAPN3","Muscular dystrophy, limb girdle 2A","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy type 2A:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=825[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1313~114240~-","CAPN3"]
["CAPN3","Myopathy with lobulated muscle fibres","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy type 2A:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=825[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1313~114240~-","CAPN3"]
["CAPN5","Vitreoretinopathy, neovascular inflammatory","Proliferative vitreoretinopathy","Autosomal Dominant","Proliferative vitreoretinopathy:Autosomal Dominant","Proliferative vitreoretinopathy:Autosomal Dominant","HIGH","-~-~602537~-","CAPN5"]
["CAPRIN1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601178~-","CAPRIN1"]
["CARD11","B cell lymphocytosis","Persistent Polyclonal B-Cell Lymphocytosis","Autosomal Dominant","Severe combined immunodeficiency disease:Autosomal Recessive$Persistent Polyclonal B-Cell Lymphocytosis:Autosomal Dominant","Severe combined immunodeficiency disease:Autosomal Recessive$Persistent Polyclonal B-Cell Lymphocytosis:Autosomal Dominant","HIGH","-~-~607210~-","CARD11"]
["CARD11","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Severe combined immunodeficiency disease:Autosomal Recessive$Persistent Polyclonal B-Cell Lymphocytosis:Autosomal Dominant","Severe combined immunodeficiency disease:Autosomal Recessive$Persistent Polyclonal B-Cell Lymphocytosis:Autosomal Dominant","HIGH","-~-~607210~-","CARD11"]
["CARMA2","Pityriasis rubra pilaris","Pityriasis rubra pilaris","Autosomal Dominant","Pityriasis rubra pilaris:Autosomal Dominant$Psoriasis:Autosomal Dominant","Pityriasis rubra pilaris:Autosomal Dominant$Psoriasis:Autosomal Dominant","HIGH","-~-~607211~-","CARD14"]
["CARMA2","Psoriasis","Psoriasis","Autosomal Dominant","Pityriasis rubra pilaris:Autosomal Dominant$Psoriasis:Autosomal Dominant","Pityriasis rubra pilaris:Autosomal Dominant$Psoriasis:Autosomal Dominant","HIGH","-~-~607211~-","CARD14"]
["CARTPT","Obesity, severe","Obesity","Autosomal Dominant",null,null,"HIGH","-~-~602606~-","CARTPT"]
["CASC5","Microcephaly, primary","Primary microcephaly","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 4:Autosomal Recessive$Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57082[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~609173~-","CASC5"]
["CASK","Autism","Autistic Disorder","Risk","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","FG syndrome","FG syndrome","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Intellectual disability, microcephaly, pontocerebellar hypoplasia","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Mental retardation & microcephaly with pontine & cerebellar hypoplasia","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Mental retardation & nystagmus","Mental retardation;Nystagmus","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Mental retardation, microcephaly & pontocerebellar hypoplasia","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Mental retardation, nystagmus & microcephaly","Mental retardation;Nystagmus;Microcephalus","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Mental retardation, X-linked","Mental retardation","X-linked Recessive","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Microcephaly, mental retardation, brainstem & cerebellar hypoplasia","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Ohtahara syndrome & cerebellar hypoplasia","Early infantile epileptic encephalopathy with suppression bursts;Congenital cerebellar hypoplasia","X-linked Recessive","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Opitz-Kaveggia syndrome","Opitz-Kaveggia syndrome","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Pontocerebellar hypoplasia 2","Pontocerebellar Hypoplasia Type 2","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASK","Pontocerebellar hypoplasia 3 with early myoclonic epilepsy and tetralogy of Fallot","Pontocerebellar Hypoplasia Type 3","X-linked Dominant","FG syndrome:X-linked dominant$FG syndrome 4:X-linked dominant$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","FG syndrome:X-linked dominantt$Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia:X-linked dominant$Mental retardation:X-linked dominant$Nystagmus:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573[geneid]~-~300172~-","CASK"]
["CASP1","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~147678~-","CASP1"]
["CASP10","Autoimmune lymphoproliferative syndrome II","Autoimmune lymphoproliferative syndrome","Autosomal Dominant","Autoimmune lymphoproliferative syndrome:Autosomal Dominant","Autoimmune lymphoproliferative syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=843[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~601762~-","CASP10"]
["CASP10","Reduced apoptotic function","Autoimmune lymphoproliferative syndrome","Autosomal Dominant","Autoimmune lymphoproliferative syndrome:Autosomal Dominant","Autoimmune lymphoproliferative syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=843[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~601762~-","CASP10"]
["CASP2","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~600639~-","CASP2"]
["CASP8","Caspase 8 deficiency","Autoimmune Lymphoproliferative Syndrome Type 2B","Autosomal Recessive","Hepatocellular carcinoma:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","Hepatocellular carcinoma:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=841[geneid]~-~601763~-","CASP8"]
["CASP8","Caspase 8 deficiency","Malignant tumor of lung","Decreased Risk","Hepatocellular carcinoma:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","Hepatocellular carcinoma:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=841[geneid]~-~601763~-","CASP8"]
["CASP8","Malignant tumor of breast","Malignant tumor of breast","Decreased Risk","Hepatocellular carcinoma:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","Hepatocellular carcinoma:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=841[geneid]~-~601763~-","CASP8"]
["CASQ2","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant$Stress-induced polymorphic ventricular tachycardia:Autosomal Dominant$Ventricular tachycardia, polymorphic:Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1289~114251~-","CASQ2"]
["CASQ2","Cardiomyopathy, non-compaction, left ventricular","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant$Stress-induced polymorphic ventricular tachycardia:Autosomal Dominant$Ventricular tachycardia, polymorphic:Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1289~114251~-","CASQ2"]
["CASQ2","Catecholaminergic polymorphic ventricular tachycardia","Catecholaminergic polymorphic ventricular tachycardia","Autosomal Recessive","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Recessive","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1289~114251~-","CASQ2"]
["CASQ2","Ventricular tachycardia, polymorphic","Catecholaminergic polymorphic ventricular tachycardia","Autosomal Recessive","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant$Stress-induced polymorphic ventricular tachycardia:Autosomal Dominant$Ventricular tachycardia, polymorphic:Autosomal Dominant","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1289~114251~-","CASQ2"]
["CASR","Epilepsy, idiopathic generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypercalcaemia","Hypercalcemia","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypercalcaemia and hypercalciuria","Hypercalcemia;Hypercalciuria","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypercalcaemia, hypocalciuric","Familial hypocalciuric hypercalcemia","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypercalcaemia, hypocalciuric & hyperparathyroidism","Familial hypocalciuric hypercalcemia;Hyperparathyroidism","Autosomal Recessive","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypercalcaemia, hypocalciuric & hypoparathyroidism","Familial hypocalciuric hypercalcemia;Hyperparathyroidism","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypercalciuria, hypocalcaemic","Familial hypocalciuric hypercalcemia","Autosomal Recessive","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hyperparathyroidism","Hyperparathyroidism","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hyperparathyroidism, neonatal primary","Neonatal hyperparathyroidism","Autosomal Recessive","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypocalcaemia","Hypocalcemia","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypocalcaemia with hypercalciuria","Hypocalcemia;Hypercalciuria","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Hypoparathyroidism","Hypoparathyroidism","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Pancreatitis","Pancreatitis","Modifier","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CASR","Tropical chronic pancreatitis","Chronic pancreatitis","Autosomal Dominant","Familial hypocalciuric hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Familial benign hypercalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","Hypercalcemia:Autosomal Dominant$Neonatal hyperparathyroidism:Autosomal Recessive$Hypocalcemia:Autosomal Dominant$Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=846[geneid]~-~601199~-","CASR"]
["CAT","Acatalasaemia","Acatalasaemia","Autosomal Recessive","Acatalasemia:Autosomal Recessive","Acatalasemia:Autosomal Recessive","HIGH","-~-~115500~-","CAT"]
["CAT","Diabetes mellitus, type 2","Diabetes mellitus type 2","Risk","Acatalasemia:Autosomal Recessive","Acatalasemia:Autosomal Recessive","HIGH","-~-~115500~-","CAT"]
["CATSPER1","Asthenozoospermia","Asthenozoospermia","Autosomal Recessive","Primary spermatogenic failure:Autosomal Recessive$Spermatogenic Failure 7:Autosomal Recessive","Primary spermatogenic failure:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK22925~606389~-","CATSPER1"]
["CATSPER1","Male infertility","Male infertility;Spermatogenic failure","Autosomal Recessive","Primary spermatogenic failure:Autosomal Recessive$Spermatogenic Failure 7:Autosomal Recessive","Primary spermatogenic failure:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK22925~606389~-","CATSPER1"]
["CATSPER3","Asthenozoospermia","Asthenozoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant$Spermatogenic Failure 7:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~609120~-","CATSPER3"]
["CATSPER4","Asthenozoospermia","Asthenozoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant$Spermatogenic Failure 7:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~609121~-","CATSPER4"]
["CAV1","Berardinelli-Seip lipodystrophy","Familial generalized lipodystrophy","Autosomal Recessive","Generalized lipodystrophy:Autosomal Recessive$Primary pulmonary hypertension:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Primary pulmonary hypertension:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=857[geneid]~-~601047~-","CAV1"]
["CAV1","Lipodystrophy, partial, atypical","Familial partial lipodystrophy","Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Primary pulmonary hypertension:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Primary pulmonary hypertension:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=857[geneid]~-~601047~-","CAV1"]
["CAV1","Pulmonary arterial hypertension","Primary pulmonary hypertension","Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Primary pulmonary hypertension:Autosomal Dominant","Generalized lipodystrophy:Autosomal Recessive$Primary pulmonary hypertension:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=857[geneid]~-~601047~-","CAV1"]
["CAV3","Caveolinopathy","Limb-girdle muscular dystrophy","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Hypertrophic cardiomyopathy","Hypertrophic cardiomyopathy","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Isolated hyperCKaemia","Creatine kinase level","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Myopathy","Myopathy","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Rippling muscle disease","Rippling muscle disease","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Rippling muscle disease","Rippling muscle disease","Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Rippling muscle disease & toe walking","Rippling muscle disease;Toe-walking gait","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CAV3","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Long QT Syndrome 9:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","Hypertrophic cardiomyopathy:Autosomal Dominant$Creatine kinase level:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Distal Muscular Dystrophy:Autosomal Dominant$Rippling muscle disease:Autosomal Dominant$Rippling muscle disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=859[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1385$http://www.ncbi.nlm.nih.gov/books/NBK1129~601253~-","CAV3"]
["CBFA2T2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603672~-","CBFA2T2"]
["CBL","Leukaemia, juvenile myelomonocytic","Juvenile myelomonocytic leukemia","Autosomal Dominant","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=867[geneid]~-~165360~-","CBL"]
["CBL","Leukaemia, juvenile myelomonocytic","Juvenile myelomonocytic leukemia","Autosomal Recessive","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=867[geneid]~-~165360~-","CBL"]
["CBL","Noonan-like syndrome","Noonan-like syndrome with Juvenile myelomonocytic leukemia","Autosomal Dominant","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=867[geneid]~-~165360~-","CBL"]
["CBL","Noonan-like syndrome","Noonan-like syndrome with Juvenile myelomonocytic leukemia","Autosomal Recessive","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=867[geneid]~-~165360~-","CBL"]
["CBL","Noonan-like syndrome","Noonan-like syndrome without Juvenile myelomonocytic leukemia","Autosomal Dominant","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Dominant$Noonan-like syndrome without Juvenile myelomonocytic leukemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=867[geneid]~-~165360~-","CBL"]
["CBLB","Diabetes, type 1","Diabetes mellitus type 1","Risk",null,null,"HIGH","-~-~604491~-","CBLB"]
["CBR1","Altered NADPH binding affinity","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~114830~-","CBR1"]
["CBR1","Reduced catalytic efficiency","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~114830~-","CBR1"]
["CBR3","Increased catalytic efficiency","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~603608~-","CBR3"]
["CBR3","Reduced catalytic efficiency","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~603608~-","CBR3"]
["CBS","Altered one-carbon metabolism","Homocystinuria","Autosomal Recessive","Homocystinuria:Autosomal Recessive$Thrombosis:Autosomal Recessive","Homocystinuria:Autosomal Recessive$Thrombosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=875[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1524~613381~-","CBS"]
["CBS","Homocystinuria","Homocystinuria;Homocystinuria vitamin B12-responsive","Autosomal Recessive","Homocystinuria:Autosomal Recessive$Thrombosis:Autosomal Recessive","Homocystinuria:Autosomal Recessive$Thrombosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=875[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1524~613381~-","CBS"]
["CBS","Myelomeningocele","Meningomyelocele","Autosomal Dominant","Homocystinuria:Autosomal Recessive$Thrombosis:Autosomal Recessive","Homocystinuria:Autosomal Recessive$Thrombosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=875[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1524~613381~-","CBS"]
["CBX2","Disorder of sexual development","46, XY Sex Reversal 5","Autosomal Recessive","46, XY Sex Reversal 5:Autosomal Recessive","46, XY Sex Reversal 5:Autosomal Recessive","HIGH","-~-~602770~-","CBX2"]
["CBX4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603079~-","CBX4"]
["CC2D2A","Joubert syndrome","Familial aplasia of the vermis;COACH syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["CC2D2A","Meckel syndrome","Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["CC2D2A","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["CC2D2A","Mental retardation with retinitis pigmentosa","Mental retardation;Retinitis pigmentosa","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["CCBE1","Lymph vessel dysplasia","Hennekam lymphangiectasia-lymphedema syndrome","Autosomal Recessive","Hennekam lymphangiectasia-lymphedema syndrome:Autosomal Recessive","Hennekam lymphangiectasia-lymphedema syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=147372[geneid]~-~612753~-","CCBE1"]
["CCDC103","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1122~614677~-","CCDC103"]
["CCDC109B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","CCDC109B"]
["CCDC11","Heterotaxy syndrome / situs inversus totalis","Situs ambiguus","Autosomal Recessive","Situs ambiguus:Autosomal Recessive","Situs ambiguus:Autosomal Recessive","HIGH","-~-~614759~-","CCDC11"]
["CCDC114","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~-~615038~-","CCDC114"]
["CCDC14","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64770[geneid]~-~-~-","CCDC14"]
["CCDC18","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=343099[geneid]~-~-~-","CCDC18"]
["CCDC19","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605152~-","CCDC19"]
["CCDC22","Intellectual disability, syndromic X-linked","Intellectual Disability","X-linked Recessive","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~300859~-","CCDC22"]
["CCDC39","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=339829[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~613798~-","CCDC39"]
["CCDC40","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~613799~-","CCDC40"]
["CCDC50","Hearing loss, progressive","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 44:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=152137[geneid]~-~611051~-","CCDC50"]
["CCDC8","3-M syndrome","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)","Autosomal Recessive","Miller-McKusick-Malvaux-Syndrome (3M Syndrome):Autosomal Recessive","Miller-McKusick-Malvaux-Syndrome (3M Syndrome):Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1481~614145~-","CCDC8"]
["CCDC88C","Hydrocephalus","Hydrocephalus","Autosomal Recessive","Hydrocephalus:Autosomal Recessive","Hydrocephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=440193[geneid]~-~611204~-","CCDC88C"]
["CCDC90B","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","MDS025"]
["CCKAR","Receptor variant","NULL","Associated Obesity disorder. Duplicate entry","NULL","NULL","HIGH","-~-~118444~-","CCKAR"]
["CCKAR","Receptor variant","NULL","Associated Obesity disorder. Duplicate entry","NULL","NULL","HIGH","-~-~118444~-","CCKAR"]
["CCKAR","Reduced expression","NULL","Associated Obesity disorder. Duplicate entry","NULL","NULL","HIGH","-~-~118444~-","CCKAR"]
["CCKAR","Reduced expression","NULL","Associated Obesity disorder. Duplicate entry","NULL","NULL","HIGH","-~-~118444~-","CCKAR"]
["CCKBR","Receptor variant","Diabetes mellitus type 2;Obesity","Risk",null,null,"HIGH","-~-~118445~-","CCKBR"]
["CCL11","Lower plasma eotaxin levels","Asthma","Modifier","Asthma:Risk","Asthma:Risk","HIGH","-~-~601156~-","CCL11"]
["CCL11","Reduced serum IgE levels in atopic dermatitis","Atopic dermatitis","Modifier","Asthma:Risk","Asthma:Risk","HIGH","-~-~601156~-","CCL11"]
["CCM2","Cerebral cavernous malformations","Cavernous hemangioma of brain","Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant$Cerebral Cavernous Malformations 2:Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83605[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1293~607929~-","CCM2"]
["CCR3","Impaired protein translocation","Allergic state","Modifier","Allergy:Modifier","Allergy:Modifier","HIGH","-~-~601268~-","CCR3"]
["CCR5","Altered function","Human immunodeficiency virus infection","Decreased Risk",null,null,"HIGH","-~-~601373~-","CCR5"]
["CCR5","Low translational efficiency","Human immunodeficiency virus infection","Decreased Risk",null,null,"HIGH","-~-~601373~-","CCR5"]
["CCR5","Reduced antigen specificity","Human immunodeficiency virus infection constitutional disease","Decreased Risk",null,null,"HIGH","-~-~601373~-","CCR5"]
["CCR7","Reduced expression","Autoimmune disease","Risk","Autoimmune disease:Risk","Autoimmune disease:Risk","HIGH","-~-~600242~-","CCR7"]
["CCS","CCS deficiency","Congenital cataracts, hearing loss, and neurodegeneration","Autosomal Recessive",null,null,"HIGH","-~-~603864~-","CCS"]
["CCT5","Mutilating sensory neuropathy with spastic paraplegia","Sensory neuropathy;Spastic paraplegia","Autosomal Recessive","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive:Autosomal Recessive","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22948[geneid]~-~610150~-","CCT5"]
["CD109","Gov platelet antigen variation","NULL",null,"NULL","NULL","HIGH","-~-~608859~-","CD109"]
["CD109","Gov platelet antigen variation","NULL","Modifier (Gov9aa), Gov(bb) and Gov(ab) individuals due to A->C polymorphism at position 2108)","NULL","NULL","HIGH","-~-~608859~-","CD109"]
["CD151","Autism","Autistic Disorder","Risk","Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:Autosomal Recessive$Antigen in Raph blood group system:Autosomal Dominant","Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:Autosomal Recessive$Antigen in Raph blood group system:Autosomal Dominant","HIGH","-~-~602243~-","CD151"]
["CD151","Blood group variation","Hemolytic transfusion reaction;Kidney disease;Pretibial epidermolysis bullosa;Hearing loss","Autosomal Recessive","Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:Autosomal Recessive$Antigen in Raph blood group system:Autosomal Dominant","Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:Autosomal Recessive$Antigen in Raph blood group system:Autosomal Dominant","HIGH","-~-~602243~-","CD151"]
["CD177","Neutrophil surface expression","Polycythemia vera;Essential thrombocythemia","Autosomal Recessive",null,null,"HIGH","-~-~162860~-","CD177"]
["CD19","Antibody deficiency","Common variable agammaglobulinemia","Autosomal Recessive","Antibody Deficiency due to Defect in CD19:Autosomal Recessive$Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1299~107265~-","CD19"]
["CD19","CD19 deficiency","Antibody Deficiency due to Defect in CD19","Autosomal Recessive","Antibody Deficiency due to Defect in CD19:Autosomal Recessive$Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1299~107265~-","CD19"]
["CD19","Hypogammaglobulinemia","Common variable agammaglobulinemia","Autosomal Recessive","Antibody Deficiency due to Defect in CD19:Autosomal Recessive$Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1299~107265~-","CD19"]
["CD207","Birbeck granules deficiency","Langerhans' granule deficiency","Autosomal Dominant","Langerhans' granule deficiency:Autosomal Dominant","Langerhans' granule deficiency:Autosomal Dominant","HIGH","-~-~604862~-","CD207"]
["CD209","Intrauterine HIV-1 infection, increased risk","Human immunodeficiency virus infection","Risk","Human immunodeficiency virus infection:Risk","Human immunodeficiency virus infection:Risk","HIGH","-~-~604672~-","CD209"]
["CD247","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Immunodeficiency due to Defect in CD3-Zeta:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","-~-~186780~-","CD247"]
["CD247","Immunodeficiency, T-cell defect","T cell immunodeficiency primary","Autosomal Recessive","Immunodeficiency due to Defect in CD3-Zeta:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","-~-~186780~-","CD247"]
["CD27","CD27 deficiency","Lymphoproliferative disorder","Autosomal Recessive","Lymphoproliferative disorder:Autosomal Recessive","Lymphoproliferative disorder:Autosomal Recessive","HIGH","-~-~186711~-","CD27"]
["CD274","Gastric adenocarcinoma, increased risk","Adenocarcinoma of stomach","Risk","NULL","NULL","HIGH","-~-~605402~-","CD274"]
["CD2AP","Glomerulosclerosis, focal segmental","Focal segmental glomerulosclerosis","Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23607[geneid]~-~604241~-","CD2AP"]
["CD2AP","Nephrotic syndrome","Nephrotic syndrome","Autosomal Recessive","Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23607[geneid]~-~604241~-","CD2AP"]
["CD320","Methylmalonic aciduria","Methylmalonic acidemia","Autosomal Recessive","Methylmalonic acidemia:Autosomal Recessive","Methylmalonic acidemia:Autosomal Recessive","HIGH","-~-~606475~-","CD320"]
["CD36","CD36 deficiency","Platelet Glycoprotein IV Deficiency","Autosomal Recessive","Platelet Glycoprotein IV Deficiency:Autosomal Recessive","Platelet Glycoprotein IV Deficiency:Autosomal Recessive","HIGH","-~-~173510~-","CD36"]
["CD36","Platelet glycoprotein IV deficiency","Platelet Glycoprotein IV Deficiency","Autosomal Recessive","Platelet Glycoprotein IV Deficiency:Autosomal Recessive","Platelet Glycoprotein IV Deficiency:Autosomal Recessive","HIGH","-~-~173510~-","CD36"]
["CD3D","Immunodeficiency, severe combined","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive","Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=915[geneid]~-~186790~-","CD3D"]
["CD3E","Immunodeficiency","Immunodeficiency due to Defect in CD3-Epsilon","Autosomal Dominant","Immunodeficiency due to Defect in CD3-Epsilon:Autosomal Dominant$Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Dominant$Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Dominant$Severe combined immunodeficiency disease:Autosomal Recessive","Severe combined immunodeficiency disease:Autosomal Dominant$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=916[geneid]~-~186830~-","CD3E"]
["CD3G","Immunodeficiency","Primary immune deficiency disorder","Autosomal Recessive","Immunodeficiency due to Defect in CD3-Gamma:Autosomal Recessive","Immunodeficiency due to Defect in CD3-Gamma:Autosomal Recessive","HIGH","-~-~186740~-","CD3G"]
["CD4","OKT4-epitope deficiency","OKT4 epitope deficiency","Autosomal Recessive","OKT4 epitope deficiency:Autosomal Recessive","OKT4 epitope deficiency:Autosomal Recessive","HIGH","-~-~186940~-","CD4"]
["CD40","CD40 deficiency","Hyperimmunoglobulin M syndrome","Autosomal Recessive","Hyper IgM Immunodeficiency Syndrome Type 3:Autosomal Recessive$Hyperimmunoglobulin M syndrome:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","-~-~109535~-","CD40"]
["CD40","Enhanced function","Infection by Trypanosoma cruzi","Decreased Risk","Hyper IgM Immunodeficiency Syndrome Type 3:Autosomal Recessive$Hyperimmunoglobulin M syndrome:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","-~-~109535~-","CD40"]
["CD40","Enhanced function","Malaria","Decreased Risk","Hyper IgM Immunodeficiency Syndrome Type 3:Autosomal Recessive$Hyperimmunoglobulin M syndrome:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","-~-~109535~-","CD40"]
["CD40","Hyper-IgM syndrome","Hyperimmunoglobulin M syndrome","Autosomal Recessive","Hyper IgM Immunodeficiency Syndrome Type 3:Autosomal Recessive$Hyperimmunoglobulin M syndrome:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","-~-~109535~-","CD40"]
["CD40LG","Hyper-IgM syndrome","X-linked hyper-IgM syndrome","X-linked Recessive","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1402~300386~-","CD40LG"]
["CD40LG","Hypogammaglobulinaemia","Hypogammaglobulinemia","X-linked Recessive","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1402~300386~-","CD40LG"]
["CD40LG","Increased soluble CD40L levels","Acute coronary syndrome","Risk","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1402~300386~-","CD40LG"]
["CD40LG","Reduced function","X-linked hyper-IgM syndrome","X-linked Recessive","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","X-linked hyperimmunoglobulin M syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1402~300386~-","CD40LG"]
["CD44","CD44 variant","Antigen in Indian blood group system","Risk","Antigen in Indian blood group system:Risk","Antigen in Indian blood group system:Risk","HIGH","-~-~107269~-","CD44"]
["CD44","Indian blood group variant","Antigen in Indian blood group system","Risk","Antigen in Indian blood group system:Risk","Antigen in Indian blood group system:Risk","HIGH","-~-~107269~-","CD44"]
["CD46","Haemolytic uraemic syndrome","Hemolytic uremic syndrome","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4179[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120920~-","CD46"]
["CD46","Haemolytic uraemic syndrome, atypical","Atypical hemolytic uremic syndrome","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4179[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120920~-","CD46"]
["CD46","Membranoproliferative glomerulonephritis","Mesangiocapillary glomerulonephritis","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4179[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120920~-","CD46"]
["CD46","Preeclampsia, in autoimmune disease","Pre-eclampsia","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4179[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~120920~-","CD46"]
["CD55","Cromer blood group","Antigen in Cromer blood group system","Risk","Antigen in Cromer blood group system:Risk","Antigen in Cromer blood group system:Risk","HIGH","-~-~125240~-","CD55"]
["CD55","Extraocular muscle pareses in myasthenia gravis","Paresis of extraocular muscles in Myasthenia gravis","Risk","Antigen in Cromer blood group system:Risk","Antigen in Cromer blood group system:Risk","HIGH","-~-~125240~-","CD55"]
["CD59","CD59 deficiency","Homologous restriction factor deficiency","Autosomal Recessive","Hemolytic anemia:Autosomal Recessive$Polyneuropathy:Autosomal Recessive","Hemolytic anemia:Autosomal Recessive$Polyneuropathy:Autosomal Recessive","HIGH","-~-~107271~-","CD59"]
["CD79A","Agammaglobulinaemia","Agammaglobulinemia","Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","HIGH","-~-~112205~-","CD79A"]
["CD79B","Agammaglobulinaemia","Agammaglobulinemia","Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","HIGH","-~-~147245~-","CD79B"]
["CD79B","Immunodeficiency","Common variable agammaglobulinemia","Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","HIGH","-~-~147245~-","CD79B"]
["CD81","Hypogammaglobulinaemia and nephropathy","Common variable agammaglobulinemia","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~-~186845~-","CD81"]
["CD8A","CD8 deficiency","CD8 Deficiency, Familial","Autosomal Recessive","CD8 Deficiency, Familial:Autosomal Recessive","CD8 Deficiency, Familial:Autosomal Recessive","HIGH","-~-~186910~-","CD8A"]
["CD96","C syndrome","Opitz trigonocephaly syndrome","Autosomal Dominant","Opitz trigonocephaly syndrome:Autosomal Recessive","Opitz trigonocephaly syndrome:Autosomal Recessive","HIGH","-~-~606037~-","CD96"]
["CDA","Altered gene expression","Cytarabine adverse reaction","Decreased Risk",null,null,"HIGH","-~-~123920~-","CDA"]
["CDA","CDA deficiency","Deficiency of cytidine deaminase","Autosomal Recessive",null,null,"HIGH","-~-~123920~-","CDA"]
["CDAN1","Congenital dysorythropoietic anaemia type 1","Congenital dyserythropoietic anemia, type I","Autosomal Recessive","Congenital dyserythropoietic anemia, type I:Autosomal Recessive$Congenital dyserythropoietic anemia:Autosomal Recessive","Congenital dyserythropoietic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=146059[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5313~607465~-","CDAN1"]
["CDC42BPB","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~614062~-","CDC42BPB"]
["CDC6","Meier-Gorlin syndrome","Meier-Gorlin syndrome 5","Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=990[geneid]~-~602627~-","CDC6"]
["CDC73","Hyperparathyroidism, isolated","Hyperparathyroidism 1","Autosomal Dominant","Familial hyperparathyroidism:Autosomal Dominant$Hyperparathyroidism 2:Autosomal Dominant$Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79577[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3789~607393~-","CDC73"]
["CDC73","Hyperparathyroidism, primary","Primary hyperparathyroidism","Autosomal Dominant","Familial hyperparathyroidism:Autosomal Dominant$Hyperparathyroidism 2:Autosomal Dominant$Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79577[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3789~607393~-","CDC73"]
["CDC73","Hyperparathyroidism-jaw tumour syndrome","Hyperparathyroidism 2","Autosomal Dominant","Familial hyperparathyroidism:Autosomal Dominant$Hyperparathyroidism 2:Autosomal Dominant$Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79577[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3789~607393~-","CDC73"]
["CDC73","Parathyroid adenoma","Parathyroid adenoma","Autosomal Dominant","Familial hyperparathyroidism:Autosomal Dominant$Hyperparathyroidism 2:Autosomal Dominant$Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79577[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3789~607393~-","CDC73"]
["CDC73","Parathyroid cancer","Malignant tumor of parathyroid gland","Autosomal Dominant","Familial hyperparathyroidism:Autosomal Dominant$Hyperparathyroidism 2:Autosomal Dominant$Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79577[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3789~607393~-","CDC73"]
["CDC73","Parathyroid carcinoma","Parathyroid carcinoma","Autosomal Dominant","Familial hyperparathyroidism:Autosomal Dominant$Hyperparathyroidism 2:Autosomal Dominant$Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","Hyperparathyroidism:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant$Parathyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79577[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3789~607393~-","CDC73"]
["CDCA7L","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609685~-","CDCA7L"]
["CDGAP","Syndromic cutis aplasia & limb anomalies","Adams-Oliver syndrome","Autosomal Dominant","Adams-Oliver syndrome:Autosomal Dominant","Adams-Oliver syndrome:Autosomal Dominant","HIGH","-~-~610911~-","ARHGAP31"]
["CDH1","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=999[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1139~192090~-","CDH1"]
["CDH1","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=999[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1139~192090~-","CDH1"]
["CDH1","Gastric cancer","Hereditary Diffuse Gastric Cancer","Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=999[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1139~192090~-","CDH1"]
["CDH1","Orofacial clefting","Orofacial cleft","Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=999[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1139~192090~-","CDH1"]
["CDH1","Prostate cancer","Malignant tumor of prostate","Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","Hereditary Diffuse Gastric Cancer:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=999[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1139~192090~-","CDH1"]
["CDH13","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~601364~-","CDH13"]
["CDH15","Intellectual disability","Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant$Mental Retardation, Autosomal Dominant 3:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1013[geneid]~-~114019~-","CDH15"]
["CDH2","Reduced expression","Obsessive-compulsive disorder","Risk",null,null,"HIGH","-~-~114020~-","CDH2"]
["CDH23","Deafness, Autosomal Recessive 12","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 12:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1D:Digenic recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605516~-","CDH23"]
["CDH23","Deafness, nonsyndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 12:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1D:Digenic recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605516~-","CDH23"]
["CDH23","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 12:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1D:Digenic recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605516~-","CDH23"]
["CDH23","Non-syndromic Autosomal Recessive deafness","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 12:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1D:Digenic recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605516~-","CDH23"]
["CDH23","Usher syndrome 1","Usher syndrome type 1","Autosomal Recessive","Deafness, Autosomal Recessive 12:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1D:Digenic recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605516~-","CDH23"]
["CDH23","Usher syndrome 1d","Usher syndrome, type 1D","Autosomal Recessive","Deafness, Autosomal Recessive 12:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1D:Digenic recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605516~-","CDH23"]
["CDH23","Usher syndrome 2","Usher syndrome type 2","Autosomal Recessive","Deafness, Autosomal Recessive 12:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1D:Digenic recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive$Usher syndrome:Digenic recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605516~-","CDH23"]
["CDH3","EEM syndrome","Ectodermal dysplasia, ectrodactyly, and macular dystrophy","Autosomal Recessive","Ectodermal dysplasia, ectrodactyly, and macular dystrophy:Autosomal Recessive$Juvenile macular degeneration and hypotrichosis:Autosomal Recessive","Ectodermal dysplasia, ectrodactyly, and macular dystrophy:Autosomal Recessive$Juvenile macular degeneration and hypotrichosis:Autosomal Recessive","HIGH","-~-~114021~-","CDH3"]
["CDH3","Hypotrichosis with juvenile macular dystrophy","Hypotrichosis;Hereditary macular dystrophy","Autosomal Recessive","Ectodermal dysplasia, ectrodactyly, and macular dystrophy:Autosomal Recessive$Juvenile macular degeneration and hypotrichosis:Autosomal Recessive","Ectodermal dysplasia, ectrodactyly, and macular dystrophy:Autosomal Recessive$Juvenile macular degeneration and hypotrichosis:Autosomal Recessive","HIGH","-~-~114021~-","CDH3"]
["CDH3","Hypotrichosis, Autosomal Recessive","Hypotrichosis","Autosomal Recessive","Ectodermal dysplasia, ectrodactyly, and macular dystrophy:Autosomal Recessive$Juvenile macular degeneration and hypotrichosis:Autosomal Recessive","Ectodermal dysplasia, ectrodactyly, and macular dystrophy:Autosomal Recessive$Juvenile macular degeneration and hypotrichosis:Autosomal Recessive","HIGH","-~-~114021~-","CDH3"]
["CDH4","Reduced expression","Neoplasm;Malignant neoplastic disease","Risk",null,null,"HIGH","-~-~603006~21665361","CDH4"]
["CDH5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601120~-","CDH5"]
["CDHR1","Cone dystrophy","Cone dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92211[geneid]~-~609502~-","CDHR1"]
["CDHR1","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92211[geneid]~-~609502~-","CDHR1"]
["CDHR1","Retinal degeneration","Degeneration of retina","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92211[geneid]~-~609502~-","CDHR1"]
["CDHR1","Retinal dystrophy","Retinal dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92211[geneid]~-~609502~-","CDHR1"]
["CDK4","Intimal sarcoma of the pulmonary artery","Intimal Sarcoma","Risk","Malignant melanoma of skin:Risk","Malignant melanoma of skin:Risk","HIGH","-~-~123829~-","CDK4"]
["CDK4","Melanoma","Malignant melanoma of skin","Risk","Malignant melanoma of skin:Risk","Malignant melanoma of skin:Risk","HIGH","-~-~123829~-","CDK4"]
["CDK4","Squamous cell carcinoma of the head and neck","Carcinoma, squamous cell of head and neck","Risk","Malignant melanoma of skin:Risk","Malignant melanoma of skin:Risk","HIGH","-~-~123829~-","CDK4"]
["CDK5R1","Mental retardation","NULL",null,"NULL","NULL","HIGH","-~-~603460~-","CDK5R1"]
["CDK5R1","Mental retardation","NULL","Autosomal Dominant (Haploinsufficiency in NF1 microdeletion cases)","NULL","NULL","HIGH","-~-~603460~-","CDK5R1"]
["CDK5RAP2","Primary microcephaly","Primary microcephaly","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 3:Autosomal Recessive$Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55755[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~608201~-","CDK5RAP2"]
["CDKAL1","Hyperinsulism","Diabetes mellitus type 2","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~611259~-","CDKAL1"]
["CDKL5","Angelman syndrome","Angelman syndrome","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Encephalopathy","Encephalopathy","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Encephalopathy with early epilepsy","Early infantile epileptic encephalopathy with suppression bursts","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Encephalopathy with refractory epilepsy","Early infantile epileptic encephalopathy with suppression bursts","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Epileptic seizures, early-onset","Myoclonic epilepsy of early childhood","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Infantile spasms","Refractory infantile spasms","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Mental disability, hypotonia, and intractable epilepsy","Mental disability;Hypotonia;Refractory epilepsy","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Mental retardation and epilepsy","Mental retardation;Epilepsy","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Mental retardation, X-linked","Mental retardation","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Precocious puberty","Precocious puberty","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Rett syndrome","Rett's disorder","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Rett syndrome, atypical","Rett's disorder","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKL5","Rett syndrome, variant, with infantile spasms","Rett's disorder;Refractory infantile spasms","X-linked Dominant","Mental retardation:X-linked dominant$Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Epileptic Encephalopathy, Early Infantile, 2:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","Mental retardation:X-linked dominant$Early infantile epileptic encephalopathy with suppression bursts:X-linked dominant$Early myoclonic encephalopathy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6792[geneid]~-~300203~-","CDKL5"]
["CDKN1A","Multiple endocrine neoplasia 1","Multiple endocrine neoplasia, type 1","Autosomal Recessive",null,null,"HIGH","-~-~116899~19141585","CDKN1A"]
["CDKN1B","Acute lymphoblastic leukaemia","Acute lymphoid leukemia, disease","Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1027[geneid]~-~600778~-","CDKN1B"]
["CDKN1B","Multiple endocrine neoplasia","Multiple endocrine neoplasia","Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1027[geneid]~-~600778~-","CDKN1B"]
["CDKN1B","Myeloproliferative syndrome","Myeloproliferative disorder","Risk","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1027[geneid]~-~600778~-","CDKN1B"]
["CDKN1B","Overgrowth and neurodevelopmental delay","Neurodevelopmental Disorder","Autosomal Recessive","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1027[geneid]~-~600778~-","CDKN1B"]
["CDKN1B","Parathyroid adenoma","Parathyroid adenoma","Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1027[geneid]~-~600778~-","CDKN1B"]
["CDKN1B","Pituitary adenoma","Pituitary adenoma","Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1027[geneid]~-~600778~-","CDKN1B"]
["CDKN1B","Pituitary and parathyroid tumours","Neoplasm of pituitary gland;Neoplasm of parathyroid gland","Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","Multiple Endocrine Neoplasia, Type IV:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1027[geneid]~-~600778~-","CDKN1B"]
["CDKN1C","Beckwith-Wiedemann syndrome","Beckwith-Wiedemann syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1028[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394~600856~-","CDKN1C"]
["CDKN1C","Beckwith-Wiedemann syndrome with genital anomalies","Beckwith-Wiedemann syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1028[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394~600856~-","CDKN1C"]
["CDKN1C","IMAGE syndrome","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1028[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394~600856~-","CDKN1C"]
["CDKN1C","Silver-Russell syndrome","Russell-Silver syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1028[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394~600856~-","CDKN1C"]
["CDKN2A","Melanoma","Malignant melanoma of skin","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Melanoma & atypical multiple mole syndrome","Malignant melanoma of skin","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Melanoma / nervous system tumours","Malignant melanoma of skin;Neoplasm of nervous system","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Melanoma/Pancreatic cancer","Melanoma-Pancreatic Cancer Syndrome","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Multiple primary melanomas","Familial Atypical Multiple Mole Melanoma","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Oesophageal tumours","Malignant tumor of esophagus","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Pancreatic cancer","Malignant tumor of pancreas","Autosomal Recessive","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Reduced mRNA translation efficiency","Malignant melanoma of skin","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Renal cancer","Malignant tumor of kidney","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Sarcoma","Sarcoma","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2A","Squamous cell carcinoma, head and neck","Carcinoma, squamous cell of head and neck","Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","Melanoma astrocytoma syndrome:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Melanoma-Pancreatic Cancer Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1029[geneid]~-~600160~-","CDKN2A"]
["CDKN2BAS","Multiple endocrine neoplasia 1","Multiple endocrine neoplasia","Risk",null,null,"HIGH","-~-~613149~-","CDKN2B-AS1"]
["CDKN2BAS","Reduced expression","NULL","No disease associated","NULL","NULL","HIGH","-~-~613149~-","CDKN2B-AS1"]
["CDKN2BAS","Reduced expression","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~613149~-","CDKN2BAS"]
["CDKN2BAS","Renal cancer","Malignant tumor of kidney","Autosomal Dominant",null,null,"HIGH","-~-~613149~-","CDKN2B-AS1"]
["CDKN2C","Multiple endocrine neoplasia 1","Multiple endocrine neoplasia, type 1","Autosomal Recessive",null,null,"HIGH","-~-~603369~19141585","CDKN2C"]
["CDON","Holoprosencephaly","Holoprosencephaly sequence","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","-~-~608707~-","CDON"]
["CDSN","Hypotrichosis simplex of the scalp","Hypotrichosis Simplex of Scalp","Autosomal Dominant","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Skin peeling disorder:Autosomal Recessive","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Skin peeling disorder:Autosomal Recessive","HIGH","-~-~602593~-","CDSN"]
["CDSN","Peeling skin disease","Skin peeling disorder","Autosomal Recessive","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Skin peeling disorder:Autosomal Recessive","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Skin peeling disorder:Autosomal Recessive","HIGH","-~-~602593~-","CDSN"]
["CDSN","Reduced protease sensitivity","Psoriasis","Risk","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Skin peeling disorder:Autosomal Recessive","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Skin peeling disorder:Autosomal Recessive","HIGH","-~-~602593~-","CDSN"]
["CDT1","Meier-Gorlin syndrome","Meier-Gorlin syndrome","Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81620[geneid]~-~605525~-","CDT1"]
["CDX1","Anorectal malformation","Anorectal anomaly","Risk","Anorectal anomaly:Risk","Anorectal anomaly:Risk","HIGH","-~-~600746~-","CDX1"]
["CDX2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600297~-","CDX2"]
["CEACAM16","Hearing loss, Autosomal Dominant","Hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~614591~-","CEACAM16"]
["CEBPA","Acute myeloid leukaemia","Acute myeloid leukemia, disease","Autosomal Recessive","Acute myeloid leukemia, disease:Autosomal Recessive","Acute myeloid leukemia, disease:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK47457~116897~-","CEBPA"]
["CEBPE","Neutrophil-specific granule deficiency","Specific granule deficiency","Autosomal Recessive","Specific granule deficiency:Autosomal Recessive","Specific granule deficiency:Autosomal Recessive","HIGH","-~-~600749~-","CEBPE"]
["CECR1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607575~-","CECR1"]
["CEL","Diabetes & pancreatic exocrine dysfunction","Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction","Autosomal Dominant","Maturity-onset diabetes of the young, type 8:Autosomal Dominant","Maturity-onset diabetes of the young, type 8:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1056[geneid]~-~114840~-","CEL"]
["CELF6","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612681~-","CELF6"]
["CELSR1","Craniorachischisis","Craniorachischisis","Risk",null,null,"HIGH","-~-~604523~-","CELSR1"]
["CELSR1","Neural tube defects","Neural tube defect;Congenital absence of caudal vertebra","Risk",null,null,"HIGH","-~-~604523~-","CELSR1"]
["CENPJ","Primary microcephaly","Primary microcephaly","Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Microcephaly, Primary Autosomal Recessive, 6:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55835[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~609279~-","CENPJ"]
["CENPJ","Seckel syndrome","Seckel syndrome","Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Microcephaly, Primary Autosomal Recessive, 6:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55835[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~609279~-","CENPJ"]
["CEP135","Microcephaly","Microcephalus","Autosomal Recessive","Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9662[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~611423~-","CEP135"]
["CEP152","Primary microcephaly","Primary microcephaly","Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22995[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~613529~-","CEP152"]
["CEP152","Seckel syndrome","Seckel syndrome","Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Primary microcephaly:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22995[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~613529~-","CEP152"]
["CEP164","Nephronophthisis-related ciliopathy","Nephronophthisis","Autosomal Recessive","Nephronophthisis:Autosomal Recessive","Nephronophthisis:Autosomal Recessive","HIGH","-~-~614848~-","CEP164"]
["CEP170B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","CEP170B"]
["CEP290","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP290","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP290","Joubert syndrome, Senior-Loken type","Familial aplasia of the vermis","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP290","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP290","Meckel syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP290","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP290","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP290","Senior-Loken syndrome","Renal dysplasia and retinal aplasia","Autosomal Recessive","Bardet-Biedl Syndrome 14:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Joubert syndrome 5:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber Congenital Amaurosis 10:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel Syndrome, Type 4:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Senior-Loken Syndrome 6:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1298~610142~-","CEP290"]
["CEP57","Mosaic variegated aneuploidy","Mosaic variegated aneuploidy syndrome","Autosomal Recessive","Mosaic variegated aneuploidy syndrome:Autosomal Recessive","Mosaic variegated aneuploidy syndrome:Autosomal Recessive","HIGH","-~-~607951~-","CEP57"]
["CEP63","Microcephaly, primary Autosomal Recessive","Primary microcephaly","Autosomal Recessive","Seckel syndrome:Autosomal Recessive","Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80254[geneid]~-~614724~-","CEP63"]
["CERKL","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Retinitis Pigmentosa 26:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=375298[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~608381~-","CERKL"]
["CERKL","Retinal degeneration","Degeneration of retina","Autosomal Recessive","Retinitis Pigmentosa 26:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=375298[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~608381~-","CERKL"]
["CERKL","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis Pigmentosa 26:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=375298[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~608381~-","CERKL"]
["CERS3","Ichthyosis, congenital, Autosomal Recessive","Autosomal Recessive ichthyosis","Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","Autosomal Recessive ichthyosis:Autosomal Recessive","HIGH","-~-~615276~-","CERS3"]
["CES1","Carboxylesterase 1 deficiency","Deficiency of carboxylesterase","Autosomal Recessive","Deficiency of carboxylesterase:Autosomal Recessive","Deficiency of carboxylesterase:Autosomal Recessive","HIGH","-~-~114835~18485328","CES1"]
["CES2","Altered function","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~605278~-","CES2"]
["CETP","Cholesterol ester transfer protein deficiency","Hyperalphalipoproteinemia","Autosomal Dominant","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~118470~-","CETP"]
["CETP","Decreased CETP concentration","Hyperalphalipoproteinemia","Risk","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~118470~-","CETP"]
["CETP","Higher HDL cholesterol level","High density lipoprotein cholesterol level","Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~118470~-","CETP"]
["CETP","Hyperalphalipoproteinaemia","Hyperalphalipoproteinemia","Autosomal Recessive","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~118470~-","CETP"]
["CETP","Increased HDL-C levels in males","High density lipoprotein cholesterol level","Autosomal Dominant","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~118470~-","CETP"]
["CETP","Lower HDL cholesterol level","High density lipoprotein cholesterol level","Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","Hyperalphalipoproteinemia:Autosomal Dominant$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~118470~-","CETP"]
["CFB","Altered binding affinity","NULL","No disease associated","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~138470~-","CFB"]
["CFB","Haemolytic uraemic syndrome","Hemolytic uremic syndrome","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~138470~-","CFB"]
["CFB","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~138470~-","CFB"]
["CFC1B","Congenital heart defects","Congenital heart disease","Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55997[geneid]~-~605194~-","CFC1"]
["CFC1B","Double outlet right ventricle","Double outlet right ventricle","Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55997[geneid]~-~605194~-","CFC1"]
["CFC1B","Left-right lateral defect","Laterality sequence","Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55997[geneid]~-~605194~-","CFC1"]
["CFC1B","Left-right laterality defect","Laterality sequence","Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55997[geneid]~-~605194~-","CFC1"]
["CFC1B","Transposition of the Great Arteries, Dextro-Looped 1","Transposition of the Great Arteries, Dextro-Looped 1","Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","Double outlet right ventricle:Autosomal Dominant$Situs ambiguus:Autosomal Dominant$Total great vessel transposition:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55997[geneid]~-~605194~-","CFC1"]
["CFD","Dense deposit disease","Nephrotic syndrome, dense deposit disease","Autosomal Recessive","Factor D deficiency:Autosomal Recessive","Factor D deficiency:Autosomal Recessive","HIGH","-~-~134350~-","CFD"]
["CFD","Factor D deficiency","Factor D deficiency","Autosomal Recessive","Factor D deficiency:Autosomal Recessive","Factor D deficiency:Autosomal Recessive","HIGH","-~-~134350~-","CFD"]
["CFH","C3 glomerulonephritis","Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Dense deposit disease","Membranoproliferative Glomerulonephritis, Type II","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Drusen, basal laminar","Basal laminar drusen","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Factor H deficiency","Factor H deficiency","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Focal and secondary glomerulosclerosis","Focal glomerular sclerosis","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Glomerulonephritis","Glomerulonephritis","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Glomerulonephritis with isolated C3 deposits","Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Glomerulonephritis, crescentic and necrotizing","Primary pauci-immune necrotizing and crescentic glomerulonephritis","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Haemolytic uraemic syndrome","Hemolytic uremic syndrome","Autosomal Dominant","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Dominant","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Hemolysis, elevated liver enzymes & low platelet count","Hemolysis-elevated liver enzymes-low platelet count syndrome","Autosomal Dominant","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","IgA nephropathy","IgA nephropathy","Autosomal Dominant","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Membranoproliferative glomerulonephritis","Membranoproliferative Glomerulonephritis, Type II","Autosomal Recessive","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Stargardt disease","Stargardt's disease","Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Thrombotic microangiopathy following transplantation","Thrombotic microangiopathy","Autosomal Dominant","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFH","Thrombotic thrombocytopaenic purpura, renal involvement","Thrombocytopenic purpura","Autosomal Dominant","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Macular Degeneration, Age-Related, 4:Risk$Age-related macular degeneration:Risk","Basal laminar drusen:Autosomal Recessive$Factor H deficiency:Autosomal Recessive$Hemolytic uremic syndrome:Risk$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3075[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425$http://www.ncbi.nlm.nih.gov/books/NBK1367~134370~-","CFH"]
["CFHR1","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant$Age-related macular degeneration:Risk","Hemolytic uremic syndrome:Autosomal Dominant$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3078[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~134371~-","CFHR1"]
["CFHR2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600889~-","CFHR2"]
["CFHR3","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Dominant","Hemolytic uremic syndrome:Autosomal Dominant$Age-related macular degeneration:Risk","Hemolytic uremic syndrome:Autosomal Dominant$Age-related macular degeneration:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10878[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~605336~-","CFHR3"]
["CFHR5","Factor H-related protein deficiency","Kidney disease","Autosomal Dominant","Kidney disease:Autosomal Dominant","Kidney disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81494[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425~608593~-","CFHR5"]
["CFHR5","Glomerulonephritis C3","Glomerulonephritis","Autosomal Dominant","Kidney disease:Autosomal Dominant","Kidney disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81494[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425~608593~-","CFHR5"]
["CFHR5","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Dominant","Kidney disease:Autosomal Dominant","Kidney disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81494[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1425~608593~-","CFHR5"]
["CFI","Acute haemorrhagic leukoencephalitis","Acute hemorrhagic leukoencephalitis","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFI","Complement factor I deficiency","Factor I deficiency","Autosomal Recessive","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFI","Haemolytic uraemic syndrome","Hemolytic uremic syndrome","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFI","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFI","Hemolysis, elevated liver enzymes & low platelet count","Hemolysis-elevated liver enzymes-low platelet count syndrome","Risk","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFI","Macular degeneration, age related","Age-related macular degeneration","Risk","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFI","Membranoproliferative glomerulonephritis","Membranoproliferative Glomerulonephritis, Type II","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFI","Thrombotic microangiopathy following transplantation","Thrombotic microangiopathy","Autosomal Dominant","Factor I deficiency:Autosomal Recessive","Factor I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3426[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~217030~-","CFI"]
["CFL2","Nemaline myopathy","Nemaline myopathy","Autosomal Recessive","Nemaline myopathy:Autosomal Recessive$Nemaline Myopathy 7:Autosomal Recessive","Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1073[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1288~601443~-","CFL2"]
["CFLAR","Altered p53 binding","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~603599~-","CFLAR"]
["CFP","Properdin deficiency","Properdin deficiency disease","X-linked Dominant","Properdin deficiency, X-linked:X-linked dominant$Properdin deficiency disease:X-linked dominant","Properdin deficiency disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5199[geneid]~-~300383~-","CFP"]
["CFTR","Altered splicing","Cystic fibrosis","Autosomal Dominant","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Altered transcription factor binding","Cystic fibrosis","Autosomal Dominant","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Asthenospermia","Asthenozoospermia","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Asthma","Asthma","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Azoospermia","Azoospermia","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Azoospermia with congenital absence of vas deferens","Azoospermia with absent vasa in association with cystic fibrosis trait","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Bronchiectasis","Bronchiectasis","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Chronic pulmonary disease","Chronic obstructive lung disease","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Congenital absence of vas deferens","Congenital absence of vas deferens","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Cystic fibrosis","Cystic fibrosis","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Disseminated bronchiectasis","Bronchiectasis","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Elevated sweat chloride concentration","Elevated sweat chloride concentration","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Foetal hyperechogenic bowel","Echogenic Bowel","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Hypertrypsinaemia, low sweat chloride","Hypertrypsinaemia","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Hypertrypsinaemia, neonatal","Hypertrypsinaemia","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Hypochloraemic alkalosis","Hypochloraemic alkalosis","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Infertility","Infertility","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Obstructive azoospermia","Azoospermia","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Oligospermia","Oligospermia","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Pancreatitis","Pancreatitis","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Pancreatitis, chronic","Pancreatitis","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Phenotype modifier","Cystic fibrosis modifier","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Primary sclerosing cholangitis","Primary sclerosing cholangitis","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CFTR","Respiratory symptoms of cystic fibrosis","Cystic fibrosis modifier","Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","Congenital absence of vas deferens:Autosomal Recessive$Cystic fibrosis:Autosomal Recessive$Cystic fibrosis:Autosomal Dominant$Elevated sweat chloride concentration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1250~602421~-","CFTR"]
["CGB","Altered conformation","Recurrent abortion","Autosomal Dominant","Zellweger syndrome:Autosomal Recessive$Peroxisome Biogenesis Disorder, Complementation Group 7:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","-~-~118860~-","CGB"]
["CGB","Inefficient assembly","Female infertility","Risk","Zellweger syndrome:Autosomal Recessive$Peroxisome Biogenesis Disorder, Complementation Group 7:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","-~-~118860~-","CGB"]
["CGB","Recurrent miscarriage","Recurrent abortion","Autosomal Dominant","Zellweger syndrome:Autosomal Recessive$Peroxisome Biogenesis Disorder, Complementation Group 7:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","-~-~118860~-","CGB"]
["CGB8","Altered conformation","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~608827~-","CGB8"]
["CGB8","Inefficient assembly","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~608827~-","CGB8"]
["CGB8","Recurrent miscarriage","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~608827~-","CGB8"]
["CHAT","Congenital myasthenic syndrome with episodic apnea","Familial infantile myasthenia","Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1103[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~118490~-","CHAT"]
["CHD1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602118~-","CHD1"]
["CHD1L","Congenital anomalies of the kidney and urinary tract","Congenital anomaly of the kidney;Congenital anomaly of the urinary tract proper","Autosomal Dominant",null,null,"HIGH","-~-~613039~-","CHD1L"]
["CHD2","Autism","Autistic Disorder","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Autistic Disorder:Risk","Early myoclonic encephalopathy:Autosomal Dominant$Autistic Disorder:Risk","HIGH","-~-~602119~-","CHD2"]
["CHD2","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Autistic Disorder:Risk","Early myoclonic encephalopathy:Autosomal Dominant$Autistic Disorder:Risk","HIGH","-~-~602119~-","CHD2"]
["CHD3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602120~-","CHD3"]
["CHD7","Autism","Autistic Disorder","Risk","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$CHARGE syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55636[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1117$http://www.ncbi.nlm.nih.gov/books/NBK1334~608892~-","CHD7"]
["CHD7","CHARGE syndrome","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association","Autosomal Recessive","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$CHARGE syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55636[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1117$http://www.ncbi.nlm.nih.gov/books/NBK1334~608892~-","CHD7"]
["CHD7","DiGeorge/CHARGE syndrome","DiGeorge sequence;Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association","Autosomal Recessive","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$CHARGE syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55636[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1117$http://www.ncbi.nlm.nih.gov/books/NBK1334~608892~-","CHD7"]
["CHD7","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$CHARGE syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55636[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1117$http://www.ncbi.nlm.nih.gov/books/NBK1334~608892~-","CHD7"]
["CHD7","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Recessive","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$CHARGE syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55636[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1117$http://www.ncbi.nlm.nih.gov/books/NBK1334~608892~-","CHD7"]
["CHD8","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610528~-","CHD8"]
["CHEK2","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200[geneid]~-~604373~-","CHEK2"]
["CHEK2","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200[geneid]~-~604373~-","CHEK2"]
["CHEK2","Li-Fraumeni syndrome","Li-Fraumeni syndrome","Autosomal Dominant","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200[geneid]~-~604373~-","CHEK2"]
["CHEK2","Multiple cancers","Multiple malignancy","Autosomal Dominant","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200[geneid]~-~604373~-","CHEK2"]
["CHEK2","Ovarian cancer","Malignant tumor of ovary","Autosomal Dominant","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200[geneid]~-~604373~-","CHEK2"]
["CHEK2","Ovarian carcinoma","Malignant epithelial tumor of ovary","Autosomal Dominant","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200[geneid]~-~604373~-","CHEK2"]
["CHEK2","Prostate cancer","Malignant tumor of prostate","Autosomal Dominant","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","Li-Fraumeni syndrome:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Colorectal cancer:Risk$Malignant tumor of prostate:Risk$Malignant tumor of breast:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200[geneid]~-~604373~-","CHEK2"]
["CHGA","Altered processing by plasmin","Essential hypertension","Risk",null,null,"HIGH","-~-~118910~-","CHGA"]
["CHGA","Increased glucose uptake inhibition","Diabetes mellitus type 2","Risk",null,null,"HIGH","-~-~118910~-","CHGA"]
["CHI3L1","Cystic fibrosis lung disease, modifier of","Cystic fibrosis","Modifier","Cystic fibrosis:Modifier$Asthma:Risk","Cystic fibrosis:Modifier$Asthma:Risk","HIGH","-~-~601525~-","CHI3L1"]
["CHIT1","Chitotriosidase deficiency","Chitotriosidase deficiency","Autosomal Recessive","Chitotriosidase deficiency:Autosomal Recessive","Chitotriosidase deficiency:Autosomal Recessive","HIGH","-~-~600031~-","CHIT1"]
["CHKB","Megaconial myopathy","Megaconial myopathy","Autosomal Recessive","Megaconial myopathy:Autosomal Recessive$Muscular Dystrophy, Congenital, Megaconial Type:Autosomal Recessive","Megaconial myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1120[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~612395~-","CHKB"]
["CHKB","Muscular dystrophy, mental retardation & enlarged mitochondria","Muscular dystrophy;Mental retardation;Enlarged mitochondria","Autosomal Recessive","Megaconial myopathy:Autosomal Recessive$Muscular Dystrophy, Congenital, Megaconial Type:Autosomal Recessive","Megaconial myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1120[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~612395~-","CHKB"]
["CHM","Choroideraemia","Choroideremia","X-linked Recessive","Choroideremia:X-linked dominant","Choroideremia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1337~300390~-","CHM"]
["CHMP1A","Pontocerebellar hypoplasia & microcephaly","Congenital pontocerebellar hypoplasia","Autosomal Recessive","Congenital pontocerebellar hypoplasia:Autosomal Recessive","Congenital pontocerebellar hypoplasia:Autosomal Recessive","HIGH","-~-~164010~-","CHMP1A"]
["CHMP2B","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis, Chmp2B-Related:Autosomal Dominant$Frontotemporal Dementia, Chromosome 3-Linked:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1199~609512~-","CHMP2B"]
["CHMP2B","Amyotrophic lateral sclerosis, PMA variant","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis, Chmp2B-Related:Autosomal Dominant$Frontotemporal Dementia, Chromosome 3-Linked:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1199~609512~-","CHMP2B"]
["CHMP2B","Frontotemporal dementia","Frontotemporal dementia","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis, Chmp2B-Related:Autosomal Dominant$Frontotemporal Dementia, Chromosome 3-Linked:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1199~609512~-","CHMP2B"]
["CHMP2B","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis, Chmp2B-Related:Autosomal Dominant$Frontotemporal Dementia, Chromosome 3-Linked:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1199~609512~-","CHMP2B"]
["CHMP2B","Progressive muscular atrophy","Progressive muscular atrophy","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis, Chmp2B-Related:Autosomal Dominant$Frontotemporal Dementia, Chromosome 3-Linked:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1199~609512~-","CHMP2B"]
["CHMP4B","Cataracts","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~610897~-","CHMP4B"]
["CHN1","Duane retraction syndrome","Duane's syndrome","Autosomal Dominant","Duane's syndrome:Autosomal Dominant$Duane Retraction Syndrome, Type 2:Autosomal Dominant","Duane's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1123[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1190~118423~-","CHN1"]
["CHN1","Duane retraction syndrome 2","Duane's syndrome","Autosomal Dominant","Duane's syndrome:Autosomal Dominant$Duane Retraction Syndrome, Type 2:Autosomal Dominant","Duane's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1123[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1190~118423~-","CHN1"]
["CHN1","Ocular dysmotility","Abnormal ocular motility","Autosomal Dominant","Duane's syndrome:Autosomal Dominant$Duane Retraction Syndrome, Type 2:Autosomal Dominant","Duane's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1123[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1190~118423~-","CHN1"]
["CHRDL1","Megalocornea, X-linked","Megalocornea","X-linked Recessive","Megalocornea:X-linked Recessive","Megalocornea:X-linked Recessive","HIGH","-~-~300350~-","CHRDL1"]
["CHRM1","Receptor variant","NULL",null,"NULL","NULL","HIGH","-~-~118510~-","CHRM1"]
["CHRM1","Receptor variant","NULL",null,"NULL","NULL","HIGH","-~-~118510~-","CHRM1"]
["CHRM2","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant",null,null,"HIGH","-~-~118493~-","CHRM2"]
["CHRM3","Bladder malformation","Congenital anomaly of the bladder","Autosomal Recessive","Prune belly syndrome:Autosomal Recessive","Prune belly syndrome:Autosomal Recessive","HIGH","-~-~118494~-","CHRM3"]
["CHRNA1","Congenital myasthenic syndrome","Familial infantile myasthenia","Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100690~-","CHRNA1"]
["CHRNA1","Fast channel myasthenic syndrome","Myasthenic Syndrome, Congenital, Fast-Channel","Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100690~-","CHRNA1"]
["CHRNA1","Fetal akinesia deformation sequence disorder","Pena-Shokeir phenotype","Autosomal Recessive","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100690~-","CHRNA1"]
["CHRNA1","Hydrops fetalis, nonimmune","Non-immune hydrops fetalis","Risk","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100690~-","CHRNA1"]
["CHRNA1","Multiple pterygium syndrome","Multiple pterygium syndrome","Autosomal Recessive","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100690~-","CHRNA1"]
["CHRNA1","Slow channel myasthenic syndrome","Myasthenic Syndromes, Congenital, Slow Channel","Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Dominant$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100690~-","CHRNA1"]
["CHRNA2","Epilepsy, idiopathic","Idiopathic epilepsy","Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe, Type 4:Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1135[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118502~-","CHRNA2"]
["CHRNA2","Epilepsy, with nocturnal wandering and ictal fear","Epilepsy, Nocturnal Frontal Lobe, Type 4","Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe, Type 4:Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1135[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118502~-","CHRNA2"]
["CHRNA3","Altered receptor function","Amyotrophic Lateral Sclerosis, Sporadic","Risk","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~118503~-","CHRNA3"]
["CHRNA3","Nicotine dependence","Nicotine dependence","Decreased Risk","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~118503~-","CHRNA3"]
["CHRNA4","Altered receptor function","Amyotrophic Lateral Sclerosis, Sporadic","Risk","Epilepsy, Nocturnal Frontal Lobe, Type 1:Autosomal Dominant:Nicotine dependence:Risk","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118504~-","CHRNA4"]
["CHRNA4","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Epilepsy, Nocturnal Frontal Lobe, Type 1:Autosomal Dominant:Nicotine dependence:Risk","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118504~-","CHRNA4"]
["CHRNA4","Epilepsy, nocturnal frontal lobe","Epilepsy, Nocturnal Frontal Lobe, Type 1","Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe, Type 1:Autosomal Dominant:Nicotine dependence:Risk","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118504~-","CHRNA4"]
["CHRNA4","Nicotine dependence","Nicotine dependence","Decreased Risk","Epilepsy, Nocturnal Frontal Lobe, Type 1:Autosomal Dominant:Nicotine dependence:Risk","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118504~-","CHRNA4"]
["CHRNA9","Increased bronchial cell proliferation and transformation","Malignant tumor of lung","Risk",null,null,"HIGH","-~-~605116~-","CHRNA9"]
["CHRNB1","Congenital myasthenic syndrome","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency","Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Congenital Myasthenic Syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Congenital Myasthenic Syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1140[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100710~-","CHRNB1"]
["CHRNB1","Pterygium syndrome, Escobar variant","Multiple pterygium syndrome","Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Congenital Myasthenic Syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Congenital Myasthenic Syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1140[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100710~-","CHRNB1"]
["CHRNB1","Slow channel myasthenic syndrome","Myasthenic Syndromes, Congenital, Slow Channel","Autosomal Dominant","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Congenital Myasthenic Syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","Congenital Myasthenic Syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Slow-Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1140[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100710~-","CHRNB1"]
["CHRNB2","Epilepsy, idiopathic","Idiopathic epilepsy","Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe, Type 3:Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1141[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118507~-","CHRNB2"]
["CHRNB2","Epilepsy, nocturnal frontal lobe","Epilepsy, Nocturnal Frontal Lobe, Type 3","Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe, Type 3:Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1141[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118507~-","CHRNB2"]
["CHRNB2","Epilepsy, nocturnal frontal lobe & distinct memory deficits","Epilepsy, Nocturnal Frontal Lobe, Type 4","Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe, Type 3:Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1141[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1169~118507~-","CHRNB2"]
["CHRNB4","Altered function","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~118509~-","CHRNB4"]
["CHRNB4","Nicotine dependence, reduced risk","Nicotine dependence","Decreased Risk",null,null,"HIGH","-~-~118509~-","CHRNB4"]
["CHRND","Autism","Autistic Disorder","Risk","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1144[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100720~-","CHRND"]
["CHRND","Congenital myasthenic syndrome","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency","Autosomal Recessive","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1144[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100720~-","CHRND"]
["CHRND","Fast channel myasthenic syndrome","Myasthenic Syndrome, Congenital, Fast-Channel","Autosomal Recessive","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1144[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100720~-","CHRND"]
["CHRND","Fetal akinesia deformation sequence disorder","Pena-Shokeir phenotype","Autosomal Recessive","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1144[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100720~-","CHRND"]
["CHRND","Lethal multiple pterygium syndrome","Lethal multiple pterygium syndrome","Autosomal Recessive","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1144[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100720~-","CHRND"]
["CHRND","Slow channel myasthenic syndrome","Myasthenic Syndromes, Congenital, Slow Channel","Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","Lethal multiple pterygium syndrome:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1144[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100720~-","CHRND"]
["CHRNE","Congenital myasthenic syndrome","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency","Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1145[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100725~-","CHRNE"]
["CHRNE","Fast channel myasthenic syndrome","Myasthenic Syndrome, Congenital, Fast-Channel","Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1145[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100725~-","CHRNE"]
["CHRNE","Slow channel myasthenic syndrome","Myasthenic Syndromes, Congenital, Slow Channel","Autosomal Dominant","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1145[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100725~-","CHRNE"]
["CHRNE","Slow channel myasthenic syndrome","Myasthenic Syndromes, Congenital, Slow Channel","Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Myasthenic Syndrome, Congenital, Fast-Channel:Autosomal Recessive$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Dominant$Myasthenic Syndromes, Congenital, Slow Channel:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1145[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~100725~-","CHRNE"]
["CHRNG","Escobar syndrome","Escobar syndrome","Autosomal Recessive","Escobar syndrome:Autosomal Recessive$Lethal multiple pterygium syndrome:Autosomal Recessive$Neonatal myasthenia gravis:Modifier","Escobar syndrome:Autosomal Recessive$Lethal multiple pterygium syndrome:Autosomal Recessive$Neonatal myasthenia gravis:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1146[geneid]~-~100730~-","CHRNG"]
["CHRNG","Neonatal myasthenia gravis","Neonatal myasthenia gravis","Modifier","Escobar syndrome:Autosomal Recessive$Lethal multiple pterygium syndrome:Autosomal Recessive$Neonatal myasthenia gravis:Modifier","Escobar syndrome:Autosomal Recessive$Lethal multiple pterygium syndrome:Autosomal Recessive$Neonatal myasthenia gravis:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1146[geneid]~-~100730~-","CHRNG"]
["CHRNG","Pterygium syndrome","Lethal multiple pterygium syndrome","Autosomal Recessive","Escobar syndrome:Autosomal Recessive$Lethal multiple pterygium syndrome:Autosomal Recessive$Neonatal myasthenia gravis:Modifier","Escobar syndrome:Autosomal Recessive$Lethal multiple pterygium syndrome:Autosomal Recessive$Neonatal myasthenia gravis:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1146[geneid]~-~100730~-","CHRNG"]
["CHST14","Adducted thumb-clubfoot syndrome","Adducted thumb and clubfoot syndrome","Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive$Adducted thumb and clubfoot syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive$Adducted thumb and clubfoot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=113189[geneid]~-~608429~-","CHST14"]
["CHST14","Ehlers-Danlos syndrome, Kosho type","Ehlers-Danlos syndrome","Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive$Adducted thumb and clubfoot syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive$Adducted thumb and clubfoot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=113189[geneid]~-~608429~-","CHST14"]
["CHST14","Musculocontractural Ehlers-Danlos syndrome","Ehlers-Danlos syndrome","Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive$Adducted thumb and clubfoot syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive$Adducted thumb and clubfoot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=113189[geneid]~-~608429~-","CHST14"]
["CHST3","Carbohydrate sulfotransferase 3 deficiency","Larsen syndrome;Spondyloepiphyseal dysplasia congenita group","Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62112~603799~-","CHST3"]
["CHST3","Larsen syndrome, Autosomal Recessive","Larsen syndrome","Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62112~603799~-","CHST3"]
["CHST3","Spondyloepiphyseal dysplasia, Omani type","Spondyloepiphyseal dysplasia congenita group","Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62112~603799~-","CHST3"]
["CHST3","Spondyloepiphyseal dysplasia, Omani type with cardiac involvement","Spondyloepiphyseal dysplasia congenita group","Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","Spondyloepiphyseal dysplasia congenita group:Autosomal Recessive$Spondyloepiphyseal dysplasia, Omani type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62112~603799~-","CHST3"]
["CHST6","Macular corneal dystrophy","Macular corneal dystrophy","Autosomal Recessive","Macular corneal dystrophy:Autosomal Recessive","Macular corneal dystrophy:Autosomal Recessive","HIGH","-~-~605294~-","CHST6"]
["CHST6","Macular corneal dystrophy, type 1","Macular corneal dystrophy Type I","Autosomal Recessive","Macular corneal dystrophy:Autosomal Recessive","Macular corneal dystrophy:Autosomal Recessive","HIGH","-~-~605294~-","CHST6"]
["CHST6","Macular corneal dystrophy, type 2","Macular corneal dystrophy Type II","Autosomal Recessive","Macular corneal dystrophy:Autosomal Recessive","Macular corneal dystrophy:Autosomal Recessive","HIGH","-~-~605294~-","CHST6"]
["CHST8","Peeling skin syndrome, type A","Genodermatosis","Autosomal Recessive",null,null,"HIGH","-~-~610190~-","CHST8"]
["CHSY1","Brachydactyly","Brachydactyly","Autosomal Recessive","Brachydactyly:Autosomal Recessive$Temtamy preaxial brachydactyly syndrome:Autosomal Recessive","Brachydactyly:Autosomal Recessive$Temtamy preaxial brachydactyly syndrome:Autosomal Recessive","HIGH","-~-~608183~-","CHSY1"]
["CHSY1","Neuropathy","Neuropathy","Autosomal Dominant","Brachydactyly:Autosomal Recessive$Temtamy preaxial brachydactyly syndrome:Autosomal Recessive","Brachydactyly:Autosomal Recessive$Temtamy preaxial brachydactyly syndrome:Autosomal Recessive","HIGH","-~-~608183~-","CHSY1"]
["CHSY1","Temtamy preaxial brachydactyly syndrome","Temtamy preaxial brachydactyly syndrome","Autosomal Recessive","Brachydactyly:Autosomal Recessive$Temtamy preaxial brachydactyly syndrome:Autosomal Recessive","Brachydactyly:Autosomal Recessive$Temtamy preaxial brachydactyly syndrome:Autosomal Recessive","HIGH","-~-~608183~-","CHSY1"]
["CHUK","Fetal encasement malformation","Cocoon Syndrome","Autosomal Recessive","Cocoon Syndrome:Autosomal Recessive","Cocoon Syndrome:Autosomal Recessive","HIGH","-~-~600664~-","CHUK"]
["CIAO1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604333~-","CIAO1"]
["CIB2","Deafness, nonsyndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 48:Autosomal Recessive$Deafness:Autosomal Recessive$Retinitis pigmentosa-deafness syndrome:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Retinitis pigmentosa-deafness syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1265~605564~-","CIB2"]
["CIB2","Usher syndrome 1j","Retinitis pigmentosa-deafness syndrome","Autosomal Recessive","Deafness, Autosomal Recessive 48:Autosomal Recessive$Deafness:Autosomal Recessive$Retinitis pigmentosa-deafness syndrome:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Retinitis pigmentosa-deafness syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1265~605564~-","CIB2"]
["CIC","Mental retardation","Mental retardation","Risk",null,null,"HIGH","-~-~612082~-","CIC"]
["CIC","Oligodendroglioma","Oligodendroglioma","Risk",null,null,"HIGH","-~-~612082~21817013","CIC"]
["CICE","Lipodystrophy, partial","NULL","No record in HGMD for this gene","NULL","NULL",null,"-~-~~-","CIDECP"]
["CIDEC","Lipodystrophy, partial","Familial partial lipodystrophy","Autosomal Recessive","Familial partial lipodystrophy:Autosomal Recessive$Partial Lipodystrophy:Autosomal Recessive","Partial Lipodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=152302[geneid]~-~-~-","CIDECP"]
["CIITA","Bare lymphocyte syndrome, complementation group A","Bare Lymphocyte Syndrome, Type II, Complementation Group A","Autosomal Recessive","Bare Lymphocyte Syndrome, Type II, Complementation Group A:Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Recessive","HIGH","-~-~600005~-","CIITA"]
["CIITA","Immunodeficiency","Immunodeficiency disorder","Autosomal Recessive","Bare Lymphocyte Syndrome, Type II, Complementation Group A:Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Recessive","HIGH","-~-~600005~-","CIITA"]
["CIRH1A","North American Indian childhood cirrhosis","North American Indian Childhood Cirrhosis","Autosomal Recessive","North American Indian Childhood Cirrhosis:Autosomal Recessive","North American Indian Childhood Cirrhosis:Autosomal Recessive","HIGH","-~-~607456~-","CIRH1A"]
["CISD2","Wolfram syndrome 2","Wolfram Syndrome 2","Autosomal Recessive","Wolfram syndrome 2:Autosomal Recessive","Wolfram syndrome 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=493856[geneid]~-~611507~-","CISD2"]
["CITED2","Congenital heart defects","Congenital heart disease","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","-~-~602937~-","CITED2"]
["CITED2","Premature ovarian failure","Premature ovarian failure","Risk","Atrial septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","-~-~602937~-","CITED2"]
["CIZ1","Cervical dystonia, primary","Isolated cervical dystonia","Autosomal Dominant",null,null,"HIGH","-~-~611420~-","CIZ1"]
["CKM","Muscle creatine kinase deficiency","Acute myocardial infarction","Risk","NULL","NULL","HIGH","-~-~123310~-","CKM"]
["ClC-2","Altered function","NULL","No disease associated","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1181[geneid]~-~600570~-","CLCN2"]
["ClC-2","Epilepsy, idiopathic","Idiopathic epilepsy","Autosomal Dominant","Idiopathic epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant","Idiopathic epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1181[geneid]~-~600570~-","CLCN2"]
["ClC-2","Idiopathic epilepsy, generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Idiopathic epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant","Idiopathic epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1181[geneid]~-~600570~-","CLCN2"]
["CLCA1","Cystic fibrosis, modifier of","Cystic fibrosis with meconium ileus","Autosomal Recessive",null,null,"HIGH","-~-~603906~-","CLCA1"]
["CLCF1","Cold-induced sweating syndrome","Cold-Induced Sweating Syndrome 2","Autosomal Recessive","Cold-Induced Sweating Syndrome 1:Autosomal Recessive$Cold-induced sweating syndrome:Autosomal Recessive","Cold-induced sweating syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK52917~607672~-","CLCF1"]
["CLCN1","Myotonia","Myotonia","Autosomal Dominant","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia","Myotonia","Autosomal Recessive","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia congenita","Congenital myotonia, Autosomal Dominant form","Autosomal Dominant","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia levior","Myotonia levior","Autosomal Recessive","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia, Becker","Congenital myotonia, Autosomal Recessive form","Autosomal Recessive","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia, Becker with Prinzmetal angina pectoris & lipomatosis","Congenital myotonia, Autosomal Recessive form","Autosomal Recessive","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia, generalised","Myotonia","Autosomal Recessive","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia, non-dystrophic","Non dystrophic myotonia","Autosomal Recessive","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN1","Myotonia, Thomsen","Congenital myotonia, Autosomal Dominant form","Autosomal Dominant","Congenital myotonia, Autosomal Dominant form:Autosomal Dominant$Congenital myotonia, Autosomal Recessive form:Autosomal Recessive$Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","Myotonia levior:Autosomal Recessive$Myotonia:Autosomal Dominant$Myotonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1180[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1355~118425~-","CLCN1"]
["CLCN2","Altered function","NULL","No disease associated","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1181[geneid]~-~600570~-","CLCN2"]
["CLCN2","Epilepsy, idiopathic","Idiopathic epilepsy","Autosomal Dominant","Idiopathic epilepsy:Risk$Idiopathic generalized epilepsy:Risk","Idiopathic epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1181[geneid]~-~600570~-","CLCN2"]
["CLCN2","Idiopathic epilepsy, generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Idiopathic epilepsy:Risk$Idiopathic generalized epilepsy:Risk","Idiopathic epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1181[geneid]~-~600570~-","CLCN2"]
["CLCN2","Leukoencephalopathy with white matter oedema","Leukoencephalopathy","Autosomal Recessive","Idiopathic epilepsy:Risk$Idiopathic generalized epilepsy:Risk","Idiopathic epilepsy:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1181[geneid]~-~600570~-","CLCN2"]
["CLCN4","Epileptic encephalopathy","Early myoclonic encephalopathy","Risk",null,null,"HIGH","-~-~302910~-","CLCN4"]
["CLCN5","Dent ","Dent's disease","X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$Dent disease 1:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99494~300008~-","CLCN5"]
["CLCN5","Dent disease","Dent's disease","X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$Dent disease 1:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99494~300008~-","CLCN5"]
["CLCN5","Dent disease 2","Dent Disease 2","X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$Dent disease 1:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99494~300008~-","CLCN5"]
["CLCN5","Familial x-linked hypophosphatemic vitamin D refractory rickets","Familial x-linked hypophosphatemic vitamin D refractory rickets","X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$Dent disease 1:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99494~300008~-","CLCN5"]
["CLCN5","Low molecular weight proteinuria","Low-molecular-weight proteinuria","X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$Dent disease 1:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99494~300008~-","CLCN5"]
["CLCN5","Nephrolithiasis, hypercalciuric","Dent disease 1","X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$Dent disease 1:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","Dent's disease:X-linked Recessive$Familial x-linked hypophosphatemic vitamin D refractory rickets:X-linked Recessive$X-linked Recessive nephrolithiasis with renal failure:X-linked Recessive$Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99494~300008~-","CLCN5"]
["CLCN6","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602726~-","CLCN6"]
["CLCN7","Infantile malignant osteopetrosis","Infantile malignant osteopetrosis","Autosomal Recessive","Osteopetrosis Autosomal Dominant Type 2:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 4:Autosomal Recessive$Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1186[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1127~602727~-","CLCN7"]
["CLCN7","Osteopetrosis","Osteopetrosis","Autosomal Recessive","Osteopetrosis Autosomal Dominant Type 2:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 4:Autosomal Recessive$Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1186[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1127~602727~-","CLCN7"]
["CLCN7","Osteopetrosis, Autosomal Dominant, Type 2","Osteopetrosis Autosomal Dominant Type 2","Autosomal Dominant","Osteopetrosis Autosomal Dominant Type 2:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 4:Autosomal Recessive$Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1186[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1127~602727~-","CLCN7"]
["CLCN7","Osteopetrosis, Autosomal Recessive","Infantile malignant osteopetrosis","Autosomal Recessive","Osteopetrosis Autosomal Dominant Type 2:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 4:Autosomal Recessive$Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1186[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1127~602727~-","CLCN7"]
["CLCN7","Osteopetrosis, Autosomal Recessive, intermediate","Osteopetrosis, Autosomal Recessive 6","Autosomal Recessive","Osteopetrosis Autosomal Dominant Type 2:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 4:Autosomal Recessive$Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1186[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1127~602727~-","CLCN7"]
["CLCN7","Osteopetrosis, benign Autosomal Dominant","Benign Autosomal Dominant osteopetrosis","Autosomal Dominant","Osteopetrosis Autosomal Dominant Type 2:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 4:Autosomal Recessive$Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1186[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1127~602727~-","CLCN7"]
["CLCNKA","Bartter syndrome 4, digenic","Bartter Syndrome, Type 4b","Autosomal Recessive","Bartter Syndrome, Type 4b:Digenic$Pseudoprimary aldosteronism:Digenic","Pseudoprimary aldosteronism:Digenic","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1187[geneid]~-~602024~-","CLCNKA"]
["CLCNKB","Autism spectrum disorder","Autistic Disorder","Risk","Bartter syndrome, type 3:Autosomal Recessive$Bartter Syndrome, Type 4b:Digenic$Pseudoprimary aldosteronism:Digenic","Pseudoprimary aldosteronism:Digenic","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1188[geneid]~-~602023~-","CLCNKB"]
["CLCNKB","Bartter syndrome","Pseudoprimary aldosteronism","Autosomal Recessive","Bartter syndrome, type 3:Autosomal Recessive$Bartter Syndrome, Type 4b:Digenic$Pseudoprimary aldosteronism:Digenic","Pseudoprimary aldosteronism:Digenic","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1188[geneid]~-~602023~-","CLCNKB"]
["CLCNKB","Bartter syndrome 3","Bartter syndrome, type 3","Autosomal Recessive","Bartter syndrome, type 3:Autosomal Recessive$Bartter Syndrome, Type 4b:Digenic$Pseudoprimary aldosteronism:Digenic","Pseudoprimary aldosteronism:Digenic","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1188[geneid]~-~602023~-","CLCNKB"]
["CLCNKB","Bartter syndrome, antenatal","Bartter syndrome, antenatal","Autosomal Recessive","Bartter syndrome, type 3:Autosomal Recessive$Bartter Syndrome, Type 4b:Digenic$Pseudoprimary aldosteronism:Digenic","Pseudoprimary aldosteronism:Digenic","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1188[geneid]~-~602023~-","CLCNKB"]
["CLCNKB","Salt-losing tubulopathy","Salt-wasting syndrome of infancy","Autosomal Recessive","Bartter syndrome, type 3:Autosomal Recessive$Bartter Syndrome, Type 4b:Digenic$Pseudoprimary aldosteronism:Digenic","Pseudoprimary aldosteronism:Digenic","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1188[geneid]~-~602023~-","CLCNKB"]
["CLDN1","Ichthyosis, alopecia, and sclerosing cholangitis","Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis","Autosomal Recessive","Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis:Autosomal Recessive","Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis:Autosomal Recessive","HIGH","-~-~603718~-","CLDN1"]
["CLDN14","Deafness, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23562[geneid]~-~605608~-","CLDN14"]
["CLDN14","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23562[geneid]~-~605608~-","CLDN14"]
["CLDN16","Hypercalciuria","Hypercalciuria","Autosomal Recessive","Primary hypomagnesemia:Autosomal Recessive","Primary hypomagnesemia:Autosomal Recessive","HIGH","-~-~603959~-","CLDN16"]
["CLDN16","Hypomagnesemia hypercalciuria syndrome","Familial hypomagnesemia-hypercalciuria","Autosomal Recessive","Primary hypomagnesemia:Autosomal Recessive","Primary hypomagnesemia:Autosomal Recessive","HIGH","-~-~603959~-","CLDN16"]
["CLDN16","Hypomagnesemia with hypercalciuria and nephrocalcinosis","Familial hypomagnesemia-hypercalciuria;Nephrocalcinosis","Autosomal Recessive","Primary hypomagnesemia:Autosomal Recessive","Primary hypomagnesemia:Autosomal Recessive","HIGH","-~-~603959~-","CLDN16"]
["CLDN19","Hypomagnesemia with hypercalciuria and nephrocalcinosis","Familial hypomagnesemia-hypercalciuria;Nephrocalcinosis","Autosomal Recessive","Hypomagnesemia 5, Renal, with Ocular Involvement:Autosomal Recessive","Hypomagnesemia 5, Renal, with Ocular Involvement:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=149461[geneid]~-~610036~-","CLDN19"]
["CLDN19","Hypomagnesemia, renal failure & severe ocular abnormalities","Hypomagnesemia;Renal failure","Autosomal Recessive","Hypomagnesemia 5, Renal, with Ocular Involvement:Autosomal Recessive","Hypomagnesemia 5, Renal, with Ocular Involvement:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=149461[geneid]~-~610036~-","CLDN19"]
["CLEC7A","Candida colonisation in hematopoietic stem cell transplantees","Familial chronic mucocutaneous candidiasis","Autosomal Recessive","Familial chronic mucocutaneous candidiasis:Autosomal Recessive","Familial chronic mucocutaneous candidiasis:Autosomal Recessive","HIGH","-~-~606264~-","CLEC7A"]
["CLIC2","Intellectual disability, X-linked","Intellectual Disability","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1193[geneid]~-~300138~-","CLIC2"]
["CLN3","Neuronal ceroid lipofuscinosis, juvenile","Juvenile neuronal ceroid lipofuscinosis","Autosomal Recessive","Juvenile neuronal ceroid lipofuscinosis:Autosomal Recessive","Juvenile neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1201[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607042~-","CLN3"]
["CLN5","Neuronal ceroid lipofuscinosis","Neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid lipofuscinosis, neuronal 5:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1203[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~608102~-","CLN5"]
["CLN5","Neuronal ceroid lipofuscinosis, Finnish variant","Ceroid lipofuscinosis, neuronal 5","Autosomal Recessive","Ceroid lipofuscinosis, neuronal 5:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1203[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~608102~-","CLN5"]
["CLN5","Neuronal ceroid lipofuscinosis, juvenile","Juvenile neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid lipofuscinosis, neuronal 5:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1203[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~608102~-","CLN5"]
["CLN5","Neuronal ceroid lipofuscinosis, late infantile","Late-infantile neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid lipofuscinosis, neuronal 5:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1203[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~608102~-","CLN5"]
["CLN6","Epilepsy, progressive myoclonus","Myoclonic Epilepsies, Progressive","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 6:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54982[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~606725~-","CLN6"]
["CLN6","Neuronal ceroid lipofuscinosis","Ceroid Lipofuscinosis, Neuronal, 6","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 6:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54982[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~606725~-","CLN6"]
["CLN6","Neuronal ceroid lipofuscinosis 4A, Autosomal Recessive","Ceroid lipofuscinosis, neuronal 4","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 6:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54982[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~606725~-","CLN6"]
["CLN6","Neuronal ceroid lipofuscinosis, late infantile","Late-infantile neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 6:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive$Infantile neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54982[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~606725~-","CLN6"]
["CLN8","Epilepsy, progressive with mental retardation","Neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid lipofuscinosis, neuronal 8:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2055[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607837~-","CLN8"]
["CLN8","Neuronal ceroid lipofuscinosis, early childhood","Neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid lipofuscinosis, neuronal 8:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2055[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607837~-","CLN8"]
["CLN8","Neuronal ceroid lipofuscinosis, late infantile","Neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid lipofuscinosis, neuronal 8:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2055[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607837~-","CLN8"]
["CLOCK","Sleep disorders","Disorder of sleep-wake cycle","Risk",null,null,"HIGH","-~-~-~-","KIAA0334"]
["CLPP","Perrault syndrome","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~601119~-","CLPP"]
["CLTCL1","Autism","Autistic Disorder","Autosomal Recessive","NULL","NULL","HIGH","-~-~601273~-","CLTCL1"]
["CLTCL1","DIGeorge syndrome/velocardiofacial syndrome","Shprintzen syndrome;DiGeorge sequence","Autosomal Recessive",null,null,"HIGH","-~-~601273~9147638","CLTCL1"]
["CLU","Alzheimer disease","Alzheimer's disease","Risk","Alzheimer's disease:Risk","Alzheimer's disease:Risk","HIGH","-~-~185430~-","CLU"]
["CLU","Haemolytic uraemic syndrome","Hemolytic uremic syndrome","Autosomal Dominant","Alzheimer's disease:Risk","Alzheimer's disease:Risk","HIGH","-~-~185430~-","CLU"]
["CNDP2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~169800~-","CNDP2"]
["CNGA1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1259[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~123825~-","CNGA1"]
["CNGA3","Achromatopsia","Achromatopsia","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 2:Autosomal Recessive","Achromatopsia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600053~-","CNGA3"]
["CNGA3","Colour-blindness, total","Achromatopsia","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 2:Autosomal Recessive","Achromatopsia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600053~-","CNGA3"]
["CNGA3","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 2:Autosomal Recessive","Achromatopsia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600053~-","CNGA3"]
["CNGA3","Oligocone trichromacy","Progressive cone dystrophy (without rod involvement)","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 2:Autosomal Recessive","Achromatopsia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600053~-","CNGA3"]
["CNGA3","Progressive cone dystrophy","Progressive cone dystrophy (without rod involvement)","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 2:Autosomal Recessive","Achromatopsia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600053~-","CNGA3"]
["CNGA3","Rod monochromatism","Rod monochromatism","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 2:Autosomal Recessive","Achromatopsia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600053~-","CNGA3"]
["CNGB1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1258[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~600724~-","CNGB1"]
["CNGB3","Achromatopsia","Achromatopsia","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 3:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54714[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1418~605080~-","CNGB3"]
["CNGB3","Cone dystrophy, Autosomal Recessive","Cone dystrophy","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 3:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54714[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1418~605080~-","CNGB3"]
["CNGB3","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 3:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54714[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1418~605080~-","CNGB3"]
["CNGB3","Macular degeneration, juvenile","Stargardt's disease","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 3:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54714[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1418~605080~-","CNGB3"]
["CNGB3","Progressive cone dystrophy","Progressive cone dystrophy (without rod involvement)","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Achromatopsia 3:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Stargardt's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54714[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1418~605080~-","CNGB3"]
["CNKSR1","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~603272~-","CNKSR1"]
["CNNM2","Hypomagnesemia","Isolated familial renal hypomagnesemia","Autosomal Dominant","Isolated familial renal hypomagnesemia:Autosomal Dominant$Primary hypomagnesemia:Autosomal Dominant","Primary hypomagnesemia:Autosomal Dominant","HIGH","-~-~607803~-","CNNM2"]
["CNNM4","Cone-rod dystrophy with amelogenesis imperfecta","Cone rod dystrophy amelogenesis imperfecta","Autosomal Recessive","Cone rod dystrophy amelogenesis imperfecta:Autosomal Recessive","Cone rod dystrophy amelogenesis imperfecta:Autosomal Recessive","HIGH","-~-~607805~-","CNNM4"]
["CNOT3","PRPF31-related retinitis pigmentosa, modifier of","Retinitis pigmentosa","Modifier",null,null,"HIGH","-~-~604910~-","CNOT3"]
["CNOT4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604911~-","CNOT4"]
["CNPY3","Altered interaction with Toll-like receptors","Immune response","Modifier",null,null,"HIGH","-~-~610774~-","CNPY3"]
["CNR1","Altered function","Drug dependence;Obesity","Risk",null,null,"HIGH","-~-~114610~-","CNR1"]
["CNR1","Altered HDL cholesterol levels","High density lipoprotein cholesterol level","Modifier",null,null,"HIGH","-~-~114610~-","CNR1"]
["CNTF","Ciliary neurotrophic factor deficiency","NULL","Modifier (Please confirm from PMID 11951178, 11890844)","NULL","NULL","HIGH","-~-~118945~-","CNTF"]
["CNTF","Ciliary neurotrophic factor deficiency","NULL","Association with disorder negated PMID 8075647","NULL","NULL","HIGH","-~-~118945~-","CNTF"]
["CNTN1","Myopathy, lethal congenital","Myopathy, Congenital, Compton-North","Autosomal Recessive","Myopathy, Congenital, Compton-North:Autosomal Recessive","Myopathy, Congenital, Compton-North:Autosomal Recessive","HIGH","-~-~600016~-","CNTN1"]
["CNTN2","Cortical myoclonic tremor & epilepsy","Cortical Myoclonic Tremor With Epilepsy","Autosomal Recessive","Cortical Myoclonic Tremor With Epilepsy:Autosomal Recessive","Cortical Myoclonic Tremor With Epilepsy:Autosomal Recessive","HIGH","-~-~190197~-","CNTN2"]
["CNTN4","Autism spectrum disorder","NULL","Not significantly associated PMID 21308999","NULL","NULL","HIGH","-~-~607280~-","CNTN4"]
["CNTN4","Autism spectrum disorder","NULL","Association not statistically significant PMID 21308999","NULL","NULL","HIGH","-~-~607280~-","CNTN4"]
["CNTN4","Spinocerebellar ataxia 16","NULL","Negated by PMID 17932120","NULL","NULL","HIGH","-~-~607280~-","CNTN4"]
["CNTN4","Spinocerebellar ataxia 16","NULL","Association with disorder negated PMID 17932120","NULL","NULL","HIGH","-~-~607280~-","CNTN4"]
["CNTNAP2","Autism spectrum disorder","Autistic Disorder","Risk","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26047[geneid]~-~604569~-","CNTNAP2"]
["CNTNAP2","Autism spectrum disorder, modifier of","Autistic Disorder","Modifier","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26047[geneid]~-~604569~-","CNTNAP2"]
["CNTNAP2","Cortical dysplasia-focal epilepsy syndrome","Cortical Dysplasia-Focal Epilepsy Syndrome","Autosomal Recessive","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26047[geneid]~-~604569~-","CNTNAP2"]
["CNTNAP2","Intellectual disability","Intellectual Disability","Autosomal Dominant","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26047[geneid]~-~604569~-","CNTNAP2"]
["CNTNAP2","Mental retardation, Pitt-Hopkins-like","Pitt-Hopkins-Like Syndrome 1","Autosomal Recessive","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","Cortical Dysplasia-Focal Epilepsy Syndrome:Autosomal Recessive$Pitt-Hopkins-Like Syndrome 1:Autosomal Recessive$Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26047[geneid]~-~604569~-","CNTNAP2"]
["CNTROB","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~611425~-","CNTROB"]
["COCH","Deafness, non-syndromic, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 9:Autosomal Dominant$Deafness:Autosomal Dominant$Progressive hearing loss:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1690[geneid]~-~603196~-","COCH"]
["COCH","Hearing loss, unilateral","NULL","Need full text PMID 22534022","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1690[geneid]~-~603196~-","COCH"]
["COCH","Progressive hearing loss","Progressive hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 9:Autosomal Dominant$Deafness:Autosomal Dominant$Progressive hearing loss:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1690[geneid]~-~603196~-","COCH"]
["COG1","Cerebrocostomandibular-like syndrome","Cerebrocostomandibular-Like Syndrome","Autosomal Dominant","Congenital disorder of glycosylation, type 2G:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9382[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606973~-","COG1"]
["COG1","Cerebrocostomandibular-like syndrome","Cerebrocostomandibular-Like Syndrome","Autosomal Recessive","Congenital disorder of glycosylation, type 2G:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9382[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606973~-","COG1"]
["COG1","Congenital disorder of glycosylation 2g","Congenital disorder of glycosylation, type 2G","Autosomal Recessive","Congenital disorder of glycosylation, type 2G:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9382[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606973~-","COG1"]
["COG4","Congenital disorder of glycosylation 2","Congenital Disorder of Glycosylation, Type Il","Autosomal Recessive","Congenital disorder of glycosylation, type Iij:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25839[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606976~-","COG4"]
["COG5","Congenital disorders of glycosylation","Congenital Disorders of Glycosylation","Autosomal Recessive","Congenital disorder of glycosylation, type Iii:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606821~-","COG5"]
["COG6","Congenital disorder of glycosylation 2l","Congenital Disorder of Glycosylation, Type Il","Autosomal Recessive","Congenital disorder of glycosylation, type Iil:Autosomal Recessive$Mental retardation:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Mental retardation:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57511[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606977~-","COG6"]
["COG6","Hypohidrosis & intellectual disability","Hypohidrosis;Intellectual Disability","Autosomal Recessive","Congenital disorder of glycosylation, type Iil:Autosomal Recessive$Mental retardation:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Mental retardation:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57511[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606977~-","COG6"]
["COG7","COG subunit defect","Congenital Disorders of Glycosylation","Autosomal Recessive","Congenital disorder of glycosylation, type Iie:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91949[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606978~-","COG7"]
["COG7","Congenital disorder of glycosylation","Congenital Disorder Of Glycosylation, Type IIE","Autosomal Recessive","Congenital disorder of glycosylation, type Iie:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91949[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606978~-","COG7"]
["COG8","Congenital disorder of glycoslyation IIh","Congenital Disorder Of Glycosylation, Type IIH","Autosomal Recessive","Congenital disorder of glycosylation, type Iih:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84342[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606979~-","COG8"]
["COG8","Congenital disorder of glycosylation IIh","Congenital Disorder Of Glycosylation, Type IIH","Autosomal Recessive","Congenital disorder of glycosylation, type Iih:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84342[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~606979~-","COG8"]
["COL10A1","Metaphyseal chondrodysplasia, Schmid","Metaphyseal chondrodysplasia, Schmid type","Autosomal Dominant","Metaphyseal chondrodysplasia, Schmid type:Autosomal Dominant","Metaphyseal chondrodysplasia, Schmid type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1300[geneid]~-~120110~-","COL10A1"]
["COL11A1","Fibrochondrogenesis","Fibrochondrogenesis","Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1301[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120280~-","COL11A1"]
["COL11A1","Marshall / Stickler syndrome","Marshall syndrome;Stickler syndrome, type 2","Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1301[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120280~-","COL11A1"]
["COL11A1","Marshall syndrome","Marshall syndrome","Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1301[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120280~-","COL11A1"]
["COL11A1","Osteoarthritis, early-onset","NULL","Need full text PMID 15922184","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1301[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120280~-","COL11A1"]
["COL11A1","Robin sequence","Robin sequence","Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1301[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120280~-","COL11A1"]
["COL11A1","Stickler syndrome","Stickler syndrome, type 2","Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","Fibrochondrogenesis:Autosomal Recessive$Marshall syndrome:Autosomal Dominant$Stickler syndrome, type 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1301[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120280~-","COL11A1"]
["COL11A2","Deafness, Autosomal Dominant 13","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Fibrochondrogenesis","Fibrochondrogenesis","Autosomal Recessive","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Micrognathia","Congenital micrognathism","Autosomal Dominant","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Non-syndromic hearing loss, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Osteoarthritis, early-onset","Early onset osteoarthritis","Autosomal Dominant","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Osteochondrodysplasia","Osteochondrodysplasia","Autosomal Recessive","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Otospondylomegaepiphyseal dysplasia","Otospondylomegaepiphyseal dysplasia","Autosomal Recessive","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Robin sequence","Robin sequence","Autosomal Dominant","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Stickler syndrome II","Stickler syndrome, vitreous type 2","Autosomal Recessive","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Stickler syndrome, without eye involvement","Stickler syndrome, type 3","Autosomal Dominant","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL11A2","Weissenbacher-Zweymuller syndrome","Pierre Robin syndrome with fetal chondrodysplasia","Autosomal Dominant","Deafness, Autosomal Dominant 13:Autosomal Dominant$Deafness, Autosomal Recessive 53:Autosomal Recessive$Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome, type 3:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Fibrochondrogenesis:Autosomal Recessive$Otospondylomegaepiphyseal dysplasia:Autosomal Recessive$Stickler syndrome:Autosomal Dominant$Pierre Robin syndrome with fetal chondrodysplasia:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1302[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120290~-","COL11A2"]
["COL14A1","Keratoderma, palmoplantar, punctate","Punctate palmoplantar keratoderma","Autosomal Dominant","Punctate palmoplantar keratoderma:Autosomal Dominant","Punctate palmoplantar keratoderma:Autosomal Dominant","HIGH","-~-~120324~-","COL14A1"]
["COL17A1","Epidermolysis bullosa","Epidermolysis bullosa","Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL17A1","Epidermolysis bullosa, atrophic benign","Junctional epidermolysis bullosa mitis","Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL17A1","Epidermolysis bullosa, Herlitz","Congenital junctional epidermolysis bullosa","Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL17A1","Epidermolysis bullosa, junctional","Junctional epidermolysis bullosa","Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL17A1","Epidermolysis bullosa, junctional with prurigo-like lesions","Junctional epidermolysis bullosa","Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL17A1","Epidermolysis bullosa, junctional, generalised","NULL","Need full text PMID 21357940","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL17A1","Epidermolysis bullosa, junctional, late-onset","Adult junctional epidermolysis bullosa","Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL17A1","Epidermolysis bullosa, junctional, localised","NULL","Need full text PMID 21357940","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1125~113811~-","COL17A1"]
["COL19A1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Modifier","Amyotrophic lateral sclerosis:Modifier","Amyotrophic lateral sclerosis:Modifier","HIGH","-~-~120165~-","COL19A1"]
["COL1A1","Caffey disease","Infantile cortical hyperostosis","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Cervical artery dissection","Dissecting aneurysm of artery","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Connective tissue weakness","Disorder of connective tissue","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Dentinogenesis imperfecta","Dentinogenesis imperfecta","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Ehlers-Danlos syndrome","Ehlers-Danlos syndrome","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Ehlers-Danlos syndrome VII","Ehlers-Danlos syndrome, procollagen proteinase deficient","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Ehlers-Danlos syndrome/Osteogenesis imperfecta","Ehlers-Danlos syndrome;Osteogenesis imperfecta","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Low bone density","Bone density below reference range","Risk","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta","Osteogenesis imperfecta","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta I","Osteogenesis imperfecta type I","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta I/IV","NULL","PMID 17078022 is a review. Exclude?","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta IA","NULL","PMID 17078022 is a review. Exclude?","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta II","Osteogenesis imperfecta type II","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta II/III","NULL","PMID 17078022 is a review. Exclude?","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta IIA","Osteogenesis imperfecta type IIA","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta IIC","Osteogenesis imperfecta type IIC","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta III","Osteogenesis imperfecta type III","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta III/IV","Osteogenesis imperfecta type III","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta III/IV","Osteogenesis imperfecta type IV","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteogenesis imperfecta IV","Osteogenesis imperfecta type IV","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Osteopenia with arterial rupture","Osteopenia","Autosomal Dominant","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type VIIA:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta type I:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","Infantile cortical hyperostosis:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Bone Density:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295$http://www.ncbi.nlm.nih.gov/books/NBK99168~120150~-","COL1A1"]
["COL1A1","Talipes equinovarus, congential idiopathic","NULL","Not listed in HGMD/OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120150~-","COL1A1"]
["COL1A2","Ehlers-Danlos syndrome","NULL","PMID studied COL5A1 mutations not COL1A2","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Ehlers-Danlos syndrome VII","Ehlers-Danlos syndrome, procollagen proteinase deficient","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Ehlers-Danlos syndrome, hypermobile","Ehlers-Danlos syndrome, type 3","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Ehlers-Danlos syndrome/Osteogenesis imperfecta","Ehlers-Danlos syndrome;Osteogenesis imperfecta","Autosomal Recessive","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Marfan syndrome","Marfan's syndrome","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Minor connective tissue anomaly","Disorder of connective tissue","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta","Osteogenesis imperfecta","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta I","Osteogenesis imperfecta type I","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta I/IV","NULL","PMID 17078022 is a review. Exclude?","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta II","Osteogenesis imperfecta type II","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta II/III","NULL","PMID 17078022 is a review. Exclude?","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta III","Osteogenesis imperfecta type III","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta III/IV","Osteogenesis imperfecta type III","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta III/IV","Osteogenesis imperfecta type IV","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteogenesis imperfecta IV","Osteogenesis imperfecta type IV","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteoporosis","Osteoporosis","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL1A2","Osteoporosis, juvenile","Feline osteogenesis imperfecta","Autosomal Dominant","Ehlers-Danlos syndrome, cardiac valvular form:Autosomal Recessive$Ehlers-Danlos syndrome, procollagen proteinase deficient:Autosomal Dominant$Osteogenesis imperfecta type II:Autosomal Dominant$Osteogenesis imperfecta type III:Autosomal Dominant$Osteogenesis imperfecta type IV:Autosomal Dominant$Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1295~120160~-","COL1A2"]
["COL2A1","Achondrogenesis 2","Achondrogenesis, type II","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Achondrogenesis II-hypochondrogenesis","Achondrogenesis, type II;Hypochondrogenesis","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Arthroophthalmopathy","Stickler syndrome, type 1","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Avascular necrosis of the femur head","Avascular necrosis of the head of femur","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Dysspondyloenchondromatosis","NULL","No PMID listed in HGMD for this","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Hypochondrogenesis","Hypochondrogenesis","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Kniest dysplasia","Kniest dysplasia","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Legg-Calve-Perthes-like disease","Avascular necrosis of the capital femoral epiphysis","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Multiple epiphyseal dysplasia","Multiple epiphyseal dysplasia","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Osteoarthritis","Osteoarthritis","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Osteochondrodysplasia","NULL","Need full text PMID 8486375","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Otospondylomegaepiphyseal dysplasia","NULL","Need full text PMID 16189708","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Platyspondylic skeletal dysplasia, Torrance","Platyspondylic Lethal Skeletal Dysplasia, Torrance Type","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Rhegmatogenous retinal detachment","Rhegmatogenous retinal detachment","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Short-limbed dwarfism","Dwarfism","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Spondylarthopathy","Osteoarthritis","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Spondylarthopathy with brachydactyly","Osteoarthritis;Brachydactyly","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Spondyloepimetaphyseal dysplasia congenita","Spondyloepimetaphyseal dysplasia","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Spondyloepimetaphyseal dysplasia, Strudwick","Strudwick syndrome","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Spondyloepiphyseal dysplasia","Spondyloepimetaphyseal dysplasia","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Spondyloepiphyseal dysplasia congenita","Spondyloepimetaphyseal dysplasia","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Spondyloperipheral dysplasia","Spondyloperipheral dysplasia short ulna","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Stickler syndrome","Stickler syndrome, type 1","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Stickler syndrome, type 1","Stickler syndrome, type 1","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Vitreoretinopathy with phalangeal epiphyseal dysplasia","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL2A1","Wagner's vitreoretinal degeneration","Hyaloideoretinal degeneration of Wagner","Autosomal Dominant","Achondrogenesis, type II:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler Syndrome, Type I, Nonsyndromic Ocular:Autosomal Dominant$Stickler syndrome, type 1:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","Achondrogenesis:Autosomal Dominant$Avascular necrosis of the head of femur:Autosomal Dominant$Czech dysplasia, metatarsal type:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness:Autosomal Dominant$Kniest dysplasia:Autosomal Dominant$Avascular necrosis of the capital femoral epiphysis:Autosomal Dominant$Osteoarthritis with Mild Chondrodysplasia:Autosomal Dominant$Otospondylomegaepiphyseal dysplasia:Autosomal Dominant$Platyspondylic Lethal Skeletal Dysplasia, Torrance Type:Autosomal Dominant$Spondyloepiphyseal dysplasia congenita:Autosomal Dominant$Strudwick syndrome:Autosomal Dominant$Spondyloperipheral dysplasia short ulna:Autosomal Dominant$Stickler syndrome:Autosomal Dominant$Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1280[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302~120140~-","COL2A1"]
["COL3A1","Acrogeria, Gottron","NULL","Need full text PMID 10819545","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL3A1","Aortic aneurysm","Aortic aneurysm","Autosomal Dominant","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome, type 4:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL3A1","Ehlers-Danlos syndrome","Ehlers-Danlos syndrome","Autosomal Dominant","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome, type 4:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL3A1","Ehlers-Danlos syndrome III","NULL","Need full text PMID 7833919$Risk","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL3A1","Ehlers-Danlos syndrome IV","Ehlers-Danlos syndrome, type 4","Autosomal Recessive","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome, type 4:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL3A1","Ehlers-Danlos syndrome IV, vascular-type","Ehlers-Danlos syndrome, type 4","Autosomal Recessive","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome, type 4:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL3A1","Ehlers-Danlos syndrome, vascular-type","Ehlers-Danlos syndrome, type 4","Autosomal Recessive","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome, type 4:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL3A1","Thoracic aortic aneurysms and dissections","Aneurysm of thoracic aorta","Autosomal Recessive","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome, type 4:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1494~120180~-","COL3A1"]
["COL4A1","Angiopathy, nephropathy, aneurysms & muscle cramps","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Anterior segment dysgenesis","Irido-corneal dysgenesis","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Axenfeld-Rieger anomaly","Axenfeld anomaly","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Hemiplegia, infantile","NULL","Need full text PMID 22574627","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Infantile spasms","NULL","Need full text PMID 22574627","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Intracerebral haemorrhage","Cerebral hemorrhage","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Intracerebral haemorrhage, foetal","Intracerebral hemorrhage in fetus or newborn","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Intracerebral haemorrhage, late-onset","Cerebral hemorrhage","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Intracranial calcification","NULL","Need full text PMID 22134833","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Intraventricular haemorrhage","Ventricular hemorrhage","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Muscle-eye-brain disease","Muscle eye brain disease","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Porencephaly and schizencephaly","Porencephaly;Schizencephaly","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Porencephaly, familial","Familial porencephaly","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Porencephaly, intracerebral haemorrhage & white matter disease","Porencephaly;Cerebral hemorrhage;Spongy degeneration of central nervous system","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Porencephaly, prenatal","Congenital porencephaly","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Schizencephaly, bilateral","Schizencephaly","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Schizencephaly, unilateral","Schizencephaly","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Small vessel disease","Small vessel cerebrovascular disease","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Stroke, childhood-onset","Stroke","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A1","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps:Autosomal Dominant$Brain Small Vessel Disease With Axenfeld-Rieger Anomaly:Autosomal Dominant$Brain Small Vessel Disease with Hemorrhage:Autosomal Dominant$Familial porencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1282[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7046~120130~-","COL4A1"]
["COL4A2","Haemorrhagic stroke","Hemorrhagic cerebral infarction","Autosomal Dominant","Congenital porencephaly:Autosomal Dominant$Hemorrhagic cerebral infarction:Autosomal Dominant","Congenital porencephaly:Autosomal Dominant$Hemorrhagic cerebral infarction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1284[geneid]~-~120090~-","COL4A2"]
["COL4A2","Porencephaly","Congenital porencephaly","Autosomal Dominant","Congenital porencephaly:Autosomal Dominant$Hemorrhagic cerebral infarction:Autosomal Dominant","Congenital porencephaly:Autosomal Dominant$Hemorrhagic cerebral infarction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1284[geneid]~-~120090~-","COL4A2"]
["COL4A2","Porencephaly & small-vessel disease","Congenital porencephaly;Small vessel cerebrovascular disease","Autosomal Dominant","Congenital porencephaly:Autosomal Dominant$Hemorrhagic cerebral infarction:Autosomal Dominant","Congenital porencephaly:Autosomal Dominant$Hemorrhagic cerebral infarction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1284[geneid]~-~120090~-","COL4A2"]
["COL4A3","Alport syndrome","Hereditary nephritis","Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1285[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120070~-","COL4A3"]
["COL4A3","Benign haematuria","Benign hematuria","Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1285[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120070~-","COL4A3"]
["COL4A3","Focal segmental glomerulosclerosis","Focal segmental glomerulosclerosis","Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1285[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120070~-","COL4A3"]
["COL4A3","Haematuria","Benign hematuria","Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1285[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120070~-","COL4A3"]
["COL4A3","Microhaematuria and proteinuria","Microscopic hematuria;Proteinuria syndrome","Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Dominant$Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1285[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120070~-","COL4A3"]
["COL4A3BP","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~604677~-","COL4A3BP"]
["COL4A4","Alport syndrome","Hereditary nephritis","Autosomal Recessive","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1286[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120131~-","COL4A4"]
["COL4A4","Benign haematuria","Benign hematuria","Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1286[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120131~-","COL4A4"]
["COL4A4","Macroscopic haematuria with microhaematuria","Frank hematuria;Microscopic hematuria","Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1286[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120131~-","COL4A4"]
["COL4A4","Microhaematuria and proteinuria","Microscopic hematuria;Proteinuria syndrome","Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1286[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120131~-","COL4A4"]
["COL4A4","Thin basement membrane disease","Thin basement membrane disease","Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","Hereditary nephritis:Autosomal Recessive$Benign hematuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1286[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~120131~-","COL4A4"]
["COL4A5","Alport syndrome","Alport Syndrome, X-Linked","X-linked Dominant","Alport syndrome:X-linked dominant$Hereditary nephritis:X-linked dominant","Alport syndrome:X-linked dominant$Hereditary nephritis:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~303630~-","COL4A5"]
["COL4A5","Alport syndrome, X-linked","Alport Syndrome, X-Linked","X-linked Dominant","Alport syndrome:X-linked dominant$Hereditary nephritis:X-linked dominant","Alport syndrome:X-linked dominant$Hereditary nephritis:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~303630~-","COL4A5"]
["COL4A5","Benign haematuria","NULL","Not listed in HGMD/OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~303630~-","COL4A5"]
["COL4A5","Collagen IV nephropathy","NULL","Not listed in HGMD/OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~303630~-","COL4A5"]
["COL4A5","Glomerulopathy, X-linked","NULL","Not listed in HGMD/OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1207~303630~-","COL4A5"]
["COL5A1","Ehlers-Danlos syndrome","Ehlers-Danlos syndrome","Autosomal Dominant","Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type 2:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1289[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120215~-","COL5A1"]
["COL5A1","Ehlers-Danlos syndrome I","Ehlers-Danlos syndrome, type 1","Autosomal Dominant","Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type 2:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1289[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120215~-","COL5A1"]
["COL5A1","Ehlers-Danlos syndrome II","Ehlers-Danlos syndrome, type 2","Autosomal Dominant","Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type 2:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1289[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120215~-","COL5A1"]
["COL5A1","Ehlers-Danlos syndrome with superior mesenteric artery aneurism","Ehlers-Danlos syndrome;Aneurysm of superior mesenteric artery","Autosomal Dominant","Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome, type 2:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1289[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120215~-","COL5A1"]
["COL5A2","Ehlers-Danlos syndrome","Ehlers-Danlos syndrome","Autosomal Dominant","Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1290[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120190~-","COL5A2"]
["COL5A2","Ehlers-Danlos syndrome I","Ehlers-Danlos syndrome, type 1","Autosomal Dominant","Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1290[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120190~-","COL5A2"]
["COL5A2","Ehlers-Danlos syndrome II","Ehlers-Danlos syndrome, type 2","Autosomal Dominant","Ehlers-Danlos syndrome, type 1:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Dominant","Ehlers-Danlos syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1290[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120190~-","COL5A2"]
["COL5A2","Spontaneous cervical artery dissections","NULL","Need full text PMID 11940702","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1290[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1244~120190~-","COL5A2"]
["COL6A1","Bethlem myopathy","Bethlem myopathy","Autosomal Dominant","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120220~-","COL6A1"]
["COL6A1","Collagen VI deficiency","Congenital muscular dystrophy","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120220~-","COL6A1"]
["COL6A1","Ullrich congenital muscular dystrophy","Ullrich congenital muscular dystrophy","Autosomal Dominant","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120220~-","COL6A1"]
["COL6A1","Ullrich congenital muscular dystrophy","Ullrich congenital muscular dystrophy","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120220~-","COL6A1"]
["COL6A2","Bethlem myopathy","Bethlem myopathy","Autosomal Dominant","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120240~-","COL6A2"]
["COL6A2","Bethlem myopathy","Bethlem myopathy","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120240~-","COL6A2"]
["COL6A2","Collagen VI deficiency","Congenital muscular dystrophy","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120240~-","COL6A2"]
["COL6A2","Epilepsy, progressive myoclonus","Myoclonic Epilepsies, Progressive","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120240~-","COL6A2"]
["COL6A2","Myosclerosis myopathy","Myosclerosis, Autosomal Recessive","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120240~-","COL6A2"]
["COL6A2","Ullrich congenital muscular dystrophy","Ullrich congenital muscular dystrophy","Autosomal Dominant","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120240~-","COL6A2"]
["COL6A2","Ullrich congenital muscular dystrophy","Ullrich congenital muscular dystrophy","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Myosclerosis, Autosomal Recessive:Autosomal Recessive$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120240~-","COL6A2"]
["COL6A3","Bethlem myopathy","Bethlem myopathy","Autosomal Dominant","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1293[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120250~-","COL6A3"]
["COL6A3","Collagen VI deficiency","Congenital muscular dystrophy","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1293[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120250~-","COL6A3"]
["COL6A3","Muscular dystrophy","NULL","PMID 22526018 discusses use of next gen sequencing. No discussion of disease","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1293[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~120250~-","COL6A3"]
["COL6A3","Ullrich congenital muscular dystrophy","Ullrich congenital muscular dystrophy","Autosomal Dominant","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1293[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120250~-","COL6A3"]
["COL6A3","Ullrich congenital muscular dystrophy","Ullrich congenital muscular dystrophy","Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","Bethlem myopathy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Dominant$Ullrich congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1293[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1503$http://www.ncbi.nlm.nih.gov/books/NBK1291~120250~-","COL6A3"]
["COL7A1","Autism spectrum disorder","Autistic Disorder","Risk","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Bart syndrome","Dominant dystrophic epidermolysis bullosa with absence of skin","Autosomal Dominant","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Bullous dermolysis of the newborn","Transient bullous dermolysis of the newborn","Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa","Recessive dystrophic epidermolysis bullosa","Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa dystrophica","Dystrophic epidermolysis bullosa","Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant","NULL","Autosomal Recessive (Not mentioned in HGMD. Listed in OMIM)","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa dystrophica, inversus type","Dystrophic epidermolysis bullosa","Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa dystrophica, Pasini type","Dominant dystrophic epidermolysis bullosa, albopapular type","Autosomal Dominant","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa pruriginosa","Epidermolysis bullosa pruriginosa","Autosomal Dominant","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa pruriginosa","Epidermolysis bullosa pruriginosa","Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa, pretibial","Pretibial epidermolysis bullosa","Autosomal Dominant","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Epidermolysis bullosa, recessive dystrophic","Recessive dystrophic epidermolysis bullosa","Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Pretibial epidermolysis bullosa ","NULL","Autosomal Dominant (Not mentioned in HGMD. Listed in OMIM)","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL7A1","Transient bullous dermolysis","Transient bullous dermolysis of the newborn","Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","Epidermolysis bullosa inversa dystrophica:Autosomal Recessive$Dominant dystrophic epidermolysis bullosa with absence of skin:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Dominant$Dystrophic epidermolysis bullosa:Autosomal Recessive$Epidermolysis bullosa pruriginosa:Autosomal Dominant$Epidermolysis bullosa pruriginosa:Autosomal Recessive$Pretibial epidermolysis bullosa:Autosomal Dominant$Pretibial epidermolysis bullosa:Autosomal Recessive$Toenail Dystrophy, Isolated:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Dominant$Transient bullous dermolysis of the newborn:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1304~120120~-","COL7A1"]
["COL8A2","Corneal dystrophy polymorphous posterior, 2 ","Polymorphous corneal dystrophy","Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Posterior Polymorphous, 2:Autosomal Dominant$Fuchs' corneal dystrophy:Autosomal Dominant$Corneal dystrophy, Fuchs' endothelial, 1:Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Fuchs' corneal dystrophy:Autosomal Dominant","HIGH","-~-~120252~-","COL8A2"]
["COL8A2","Fuchs corneal dystrophy","Fuchs' corneal dystrophy","Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Posterior Polymorphous, 2:Autosomal Dominant$Fuchs' corneal dystrophy:Autosomal Dominant$Corneal dystrophy, Fuchs' endothelial, 1:Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Fuchs' corneal dystrophy:Autosomal Dominant","HIGH","-~-~120252~-","COL8A2"]
["COL8A2","Glaucoma, primary open angle","NULL","Risk? Verify from PMID 21139683","NULL","NULL","HIGH","-~-~120252~-","COL8A2"]
["COL9A1","Multiple epiphyseal dysplasia","Multiple epiphyseal dysplasia","Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1297[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302$http://www.ncbi.nlm.nih.gov/books/NBK1123~120210~-","COL9A1"]
["COL9A1","Stickler syndrome, Autosomal Recessive","Stickler syndrome","Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1297[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1302$http://www.ncbi.nlm.nih.gov/books/NBK1123~120210~-","COL9A1"]
["COL9A2","Intervertebral disc disease","Myelopathy due to intervertebral disc disease","Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123$http://www.ncbi.nlm.nih.gov/books/NBK1302~120260~-","COL9A2"]
["COL9A2","Lumbar stenosis","Spinal stenosis of lumbar region","Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123$http://www.ncbi.nlm.nih.gov/books/NBK1302~120260~-","COL9A2"]
["COL9A2","Multiple epiphyseal dysplasia","Multiple epiphyseal dysplasia","Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123$http://www.ncbi.nlm.nih.gov/books/NBK1302~120260~-","COL9A2"]
["COL9A2","Stickler syndrome","Stickler syndrome","Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 2:Autosomal Dominant$Stickler syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123$http://www.ncbi.nlm.nih.gov/books/NBK1302~120260~-","COL9A2"]
["COL9A3","Hearing loss, non-syndromic","NULL","Need full text PMID 15917166","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123~120270~-","COL9A3"]
["COL9A3","Multiple epiphyseal dysplasia","Multiple epiphyseal dysplasia","Autosomal Dominant","Epiphyseal dysplasia, multiple, 3:Autosomal Dominant$Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopathy:Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal Dysplasia, Multiple, with Myopathy:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123~120270~-","COL9A3"]
["COL9A3","Pseudoachondroplasia","NULL","Modifier? Verify from PMID 21042783","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123~120270~-","COL9A3"]
["COLEC11","3MC syndrome","Carnevale syndrome","Autosomal Recessive","Carnevale syndrome:Autosomal Recessive","Carnevale syndrome:Autosomal Recessive","HIGH","-~-~612502~-","COLEC11"]
["COLQ","Congenital myasthenic syndrome","Familial infantile myasthenia","Autosomal Recessive","Endplate Acetylcholinesterase Deficiency:Autosomal Recessive","Endplate Acetylcholinesterase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~603033~-","COLQ"]
["COLQ","Endplate acetylcholinesterase deficiency","Endplate Acetylcholinesterase Deficiency","Autosomal Recessive","Endplate Acetylcholinesterase Deficiency:Autosomal Recessive","Endplate Acetylcholinesterase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~603033~-","COLQ"]
["COMMD1","Elevated urinary copper","Wilson's disease","Modifier",null,null,"HIGH","-~-~607238~20550661","COMMD1"]
["COMP","Multiple epiphyseal dysplasia","Multiple epiphyseal dysplasia","Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 1:Autosomal Dominant$Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome:Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1487$http://www.ncbi.nlm.nih.gov/books/NBK1123~600310~-","COMP"]
["COMP","Pseudoachondroplasia","Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome","Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Epiphyseal dysplasia, multiple, 1:Autosomal Dominant$Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome:Autosomal Dominant","Multiple epiphyseal dysplasia:Autosomal Dominant$Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1487$http://www.ncbi.nlm.nih.gov/books/NBK1123~600310~-","COMP"]
["COMT","Increased translation rate","Pain threshold","Modifier",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1312[geneid]~-~116790~-","COMT"]
["COMT","Temporomandibular disorder","NULL","Autosomal recessive? Verify PMID 20974455","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1312[geneid]~-~116790~-","COMT"]
["COPS2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604508~-","COPS2"]
["COQ2","Coenzyme Q10 deficiency","Coenzyme Q10 Deficiency","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27235[geneid]~-~609825~-","COQ2"]
["COQ2","Multiple system atrophy","Multiple system atrophy","Risk","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27235[geneid]~-~609825~-","COQ2"]
["COQ2","Nephrotic syndrome, steroid resistant","Steroid-resistant nephrotic syndrome","Risk","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27235[geneid]~-~609825~-","COQ2"]
["COQ2","OXPHOS deficiency","CoQ-responsive OXPHOS deficiency","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27235[geneid]~-~609825~-","COQ2"]
["COQ5","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84274[geneid]~-~-~-","COQ5"]
["COQ6","Diffuse mesangial sclerosis","Diffuse mesangial sclerosis","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51004[geneid]~-~614647~-","COQ6"]
["COQ6","Nephrotic syndrome","Nephrotic syndrome","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51004[geneid]~-~614647~-","COQ6"]
["COQ6","Nephrotic syndrome with sensorineural deafness","Nephrotic syndrome;Sensorineural hearing loss","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51004[geneid]~-~614647~-","COQ6"]
["COQ9","Primary coenzyme Q10 deficiency, neonatal onset","Coenzyme Q10 Deficiency","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57017[geneid]~-~612837~-","COQ9"]
["CORIN","Hypertension","Essential hypertension","Autosomal Dominant","Pre-eclampsia or eclampsia with pre-existing hypertension:Autosomal Dominant","Pre-eclampsia or eclampsia with pre-existing hypertension:Autosomal Dominant","HIGH","-~-~605236~-","CORIN"]
["CORO1A","Immunodeficiency, severe combined","ßSevere combined immunodeficiency disease","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~-~605000~-","CORO1A"]
["COX10","Cytochrome c oxidase deficiency","Cytochrome-c oxidase deficiency","Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1352[geneid]~-~602125~-","COX10"]
["COX15","Cytochrome c oxidase deficiency","Leigh's disease","Autosomal Recessive","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Leigh's disease:Autosomal Recessive","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1355[geneid]~-~603646~-","COX15"]
["COX15","Hypertrophic cardiomyopathy, early onset","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency","Autosomal Recessive","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Leigh's disease:Autosomal Recessive","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1355[geneid]~-~603646~-","COX15"]
["COX20","Ataxia and muscle hypotonia","Cytochrome-c oxidase deficiency","Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","HIGH","-~-~614698~-","COX20"]
["COX4I2","Exocrine pancreatic insufficiency and calvarial hyperostosis","Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis","Autosomal Recessive","Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:Autosomal Recessive","Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84701[geneid]~-~607976~-","COX4I2"]
["COX6B1","Complex 4 deficiency","Cytochrome-c oxidase deficiency","Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","Cytochrome-c oxidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1340[geneid]~-~124089~-","COX6B1"]
["COX7B","Microphthalmia with linear skin lesions","Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies","X-linked Dominant","Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies:X-linked Dominant","Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies:X-linked Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1349[geneid]~-~300885~-","COX7B"]
["CP","Aceruloplasminaemia","Deficiency of ferroxidase","Autosomal Recessive","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1493~117700~-","CP"]
["CP","Aceruloplasminaemia with diabetes","Deficiency of ferroxidase;Diabetes","Autosomal Recessive","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1493~117700~-","CP"]
["CP","Aceruloplasminaemia with parkinsonism","NULL","Autosomal Recessive? Verify PMID 10983721","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1493~117700~-","CP"]
["CP","Familial hypoceruloplasminemia ","Familial hypoceruloplasminemia","Autosomal Dominant","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1493~117700~-","CP"]
["CP","Hemosiderosis, Systemic, due to Aceruloplasminemia","Hemosiderosis, Systemic, due to Aceruloplasminemia","Autosomal Recessive","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1493~117700~-","CP"]
["CP","Multiple sytem atrophy","Multiple system atrophy","Autosomal Recessive","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","Cerebellar ataxia:Autosomal Recessive$Hemosiderosis, Systemic, due to Aceruloplasminemia:Autosomal Recessive$Familial hypoceruloplasminemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1493~117700~-","CP"]
["CPA6","Febrile seizures","Febrile convulsions","Autosomal Recessive","Temporal lobe epilepsy:Autosomal Dominant$Febrile convulsion:Autosomal Recessive","Temporal lobe epilepsy:Autosomal Dominant$Febrile convulsion:Autosomal Recessive","HIGH","-~-~609562~-","CPA6"]
["CPA6","Temporal lobe epilepsy","Temporal lobe epilepsy","Autosomal Recessive","Temporal lobe epilepsy:Autosomal Dominant$Febrile convulsion:Autosomal Recessive","Temporal lobe epilepsy:Autosomal Dominant$Febrile convulsion:Autosomal Recessive","HIGH","-~-~609562~-","CPA6"]
["CPB2","Higher TAFI antigen levels","Acute coronary syndrome","Modifier","NULL","NULL","HIGH","-~-~603101~19699511","CPB2"]
["CPN1","Carboxypeptidase N deficiency","Anaphylotoxin inactivator deficiency","Autosomal Recessive","Anaphylotoxin inactivator deficiency:Autosomal Recessive","Anaphylotoxin inactivator deficiency:Autosomal Recessive","HIGH","-~-~603103~-","CPN1"]
["CPOX","Coproporphyria","Coproporphyria","Autosomal Dominant","Coproporphyria:Autosomal Dominant$Coproporphyria:Autosomal Recessive","Coproporphyria:Autosomal Dominant$Coproporphyria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1371[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114807~612732~-","CPOX"]
["CPOX","Coproporphyria","Coproporphyria","Autosomal Recessive","Coproporphyria:Autosomal Dominant$Coproporphyria:Autosomal Recessive","Coproporphyria:Autosomal Dominant$Coproporphyria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1371[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114807~612732~-","CPOX"]
["CPOX","Harderoporphyria","Homozygous hereditary coproporphyria","Autosomal Recessive","Coproporphyria:Autosomal Dominant$Coproporphyria:Autosomal Recessive","Coproporphyria:Autosomal Dominant$Coproporphyria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1371[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114807~612732~-","CPOX"]
["CPS1","Carbamoyl phosphate synthetase I deficiency","Congenital hyperammonemia, type I","Autosomal Recessive","Congenital hyperammonemia, type I:Autosomal Recessive$Hyperammonemia:Autosomal Recessive","Hyperammonemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1373[geneid]~-~608307~-","CPS1"]
["CPS1","VACTERL","Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome","Autosomal Dominant","Congenital hyperammonemia, type I:Autosomal Recessive$Hyperammonemia:Autosomal Recessive","Hyperammonemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1373[geneid]~-~608307~-","CPS1"]
["CPT1A","Carnitine palmitoyltransferase 1 deficiency","Carnitine palmitoyltransferase I deficiency","Autosomal Recessive","Carnitine palmitoyltransferase I deficiency:Autosomal Recessive","Carnitine palmitoyltransferase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1374[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1527~600528~-","CPT1A"]
["CPT1B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601987~-","CPT1B"]
["CPT2","Carnitine palmitoyltransferase 2 deficiency","Carnitine palmitoyltransferase II deficiency","Autosomal Recessive","Carnitine palmitoyltransferase II deficiency:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Infantile:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Late-Onset:Autosomal Recessive","Carnitine palmitoyltransferase II deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1253~600650~-","CPT2"]
["CPT2","Myopathy","Myopathy","Autosomal Dominant","Carnitine palmitoyltransferase II deficiency:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Infantile:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Late-Onset:Autosomal Recessive","Carnitine palmitoyltransferase II deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1253~600650~-","CPT2"]
["CPT2","Sudden unexpected death in infancy","Sudden infant death","Autosomal Recessive","Carnitine palmitoyltransferase II deficiency:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Infantile:Autosomal Recessive$Carnitine Palmitoyltransferase II Deficiency, Late-Onset:Autosomal Recessive","Carnitine palmitoyltransferase II deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1253~600650~-","CPT2"]
["CPZ","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603105~-","CPZ"]
["CR1","Alzheimer disease","Alzheimer's disease","Risk","Knops blood group system:Risk","Knops blood group system:Risk","HIGH","-~-~120620~-","CR1"]
["CR1","Dense deposit disease","Nephrotic syndrome, dense deposit disease","Risk","Knops blood group system:Risk","Knops blood group system:Risk","HIGH","-~-~120620~-","CR1"]
["CR1","Knops blood group variation","Knops blood group system","Risk","Knops blood group system:Risk","Knops blood group system:Risk","HIGH","-~-~120620~-","CR1"]
["CR2","Hypogammaglobulinaemia","Hypogammaglobulinemia","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1299~120650~-","CR2"]
["CRADD","Mental retardation, non-syndromic","Mental retardation","Autosomal Recessive","Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","-~-~603454~-","CRADD"]
["CRB1","Cone-rod dystrophy & retinal telangiectasia","Progressive cone-rod dystrophy;Retinal telangiectasia","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Cone-rod dystrophy, early-onset","Progressive cone-rod dystrophy","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Pigmented paravenous chorioretinal atrophy","Pigmented Paravenous Chorioretinal Atrophy","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinal dystrophy, early-onset","Retinal dystrophy","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa & nanophthalmos","Retinitis pigmentosa;Simple microphthalmos","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa & retinal telangiectasia","Retinitis pigmentosa;Retinal telangiectasia","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa / cone-rod degeneration","Retinitis pigmentosa;Progressive cone-rod dystrophy","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa / leber congenital amaurosis","Retinitis pigmentosa;Leber's amaurosis","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa 12","Retinitis pigmentosa","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Retinitis pigmentosa, nanophthalmos & optic disc drusen","Retinitis pigmentosa;Simple microphthalmos;Drusen of optic disc","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRB1","Rod-cone dystrophy, early-onset","Progressive cone-rod dystrophy","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis Pigmentosa 12:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Pigmented Paravenous Chorioretinal Atrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23418[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298$http://www.ncbi.nlm.nih.gov/books/NBK1417~604210~-","CRB1"]
["CRBN","Mental retardation, non-syndromic, Autosomal Recessive","Mental retardation","Autosomal Recessive","Mental Retardation, Autosomal Recessive 2:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51185[geneid]~-~609262~-","CRBN"]
["CREB1","Multiple malformation syndrome","Multiple system malformation syndrome","Autosomal Dominant","Histiocytoma, Angiomatoid Fibrous:Somatic","Histiocytoma, Angiomatoid Fibrous:Somatic","HIGH","-~-~123810~-","CREB1"]
["CREB3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606443~-","CREB3"]
["CREB3L3","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant",null,null,"HIGH","-~-~611998~-","CREB3L3"]
["CREBBP","Ovarian cancer","Malignant tumor of ovary","Autosomal Dominant","Rubinstein-Taybi syndrome:Autosomal Dominant","Rubinstein-Taybi syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1387[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1526~600140~-","CREBBP"]
["CREBBP","Rubinstein-Taybi syndrome","Rubinstein-Taybi syndrome","Autosomal Dominant","Rubinstein-Taybi syndrome:Autosomal Dominant","Rubinstein-Taybi syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1387[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1526~600140~-","CREBBP"]
["CRELD1","Cardiac atrioventricular septal defect","Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome","Autosomal Dominant","Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome:Autosomal Dominant","Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome:Autosomal Dominant","HIGH","-~-~607170~-","CRELD1"]
["CRH","Increased protein levels","Epilepsy, Nocturnal Frontal Lobe","Autosomal Dominant",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1169~122560~-","CRH"]
["CRH","Nocturnal frontal lobe epilepsy, Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe","Autosomal Dominant",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1169~122560~-","CRH"]
["CRLF1","Cold Induced Sweating Syndrome","Cold-Induced Sweating Syndrome 1","Autosomal Recessive","Cold-Induced Sweating Syndrome 1:Autosomal Recessive$Cold-induced sweating syndrome:Autosomal Recessive","Cold-induced sweating syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9244[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52917~604237~-","CRLF1"]
["CRLF1","Crisponi syndrome","Crisponi syndrome","Autosomal Recessive","Cold-Induced Sweating Syndrome 1:Autosomal Recessive$Cold-induced sweating syndrome:Autosomal Recessive","Cold-induced sweating syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9244[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52917~604237~-","CRLF1"]
["CRP","Altered CRP level","Arteriosclerotic vascular disease","Autosomal Recessive ","NULL","NULL","HIGH","-~-~123260~-","CRP"]
["CRP","Increased CRP level","Coronary arteriosclerosis","Risk",null,null,"HIGH","-~-~123260~-","CRP"]
["CRP","Systemic lupus erythematosus, association with","NULL","Autosomal Recessive (dosage dependent effects PMID 14645206) ","NULL","NULL","HIGH","-~-~123260~-","CRP"]
["CRTAP","Osteogenesis imperfecta","Osteogenesis Imperfecta Type VII","Autosomal Recessive","Osteogenesis Imperfecta Type VII:Autosomal Recessive$Osteogenesis Imperfecta:Autosomal Recessive","Osteogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10491[geneid]~-~605497~-","CRTAP"]
["CRTAP","Osteogenesis imperfecta, recessive","Osteogenesis imperfecta, recessive perinatal lethal","Autosomal Recessive","Osteogenesis Imperfecta Type VII:Autosomal Recessive$Osteogenesis Imperfecta:Autosomal Recessive","Osteogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10491[geneid]~-~605497~-","CRTAP"]
["CRX","Cone dystrophy","Cone dystrophy","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1406[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602225~-","CRX"]
["CRX","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1406[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602225~-","CRX"]
["CRX","Leber congenital amaurosis","Leber's amaurosis","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1406[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602225~-","CRX"]
["CRX","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1406[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602225~-","CRX"]
["CRX","Macular dystrophy","Hereditary macular dystrophy","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1406[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602225~-","CRX"]
["CRX","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1406[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602225~-","CRX"]
["CRYAA","Congenital cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","HIGH","-~-~123580~-","CRYAA"]
["CRYAA","Congenital cataract","Congenital cataract","Autosomal Recessive","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","HIGH","-~-~123580~-","CRYAA"]
["CRYAB","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Cataract, congenital","Congenital cataract","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Cataract, congenital nuclear","Congenital cataract","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Cataract, juvenile","Juvenile cataract","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Cataract, lamellar","Congenital lamellar cataract","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Cataract, pediatric","Juvenile cataract","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Muscular dystrophy, hypertonic fatal infantile","Muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Myofibrillar myopathy, cardiomyopathy & posterior polar cataract","Myofibrillar Myopathy;Cardiomyopathy;Congenital posterior polar cataract","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Myopathy, desmin related","Myopathy, Myofibrillar, Desmin-Related","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Myopathy, myofibrillar","Myofibrillar Myopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Myopathy, myofibrillar, infantile-onset","Myofibrillar Myopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYAB","Posterior polar cataract","Congenital posterior polar cataract","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cataract:Autosomal Dominant$Alpha-B Crystallinopathy:Autosomal Dominant$Myofibrillar Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1410[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~123590~-","CRYAB"]
["CRYBA1","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123610~-","CRYBA1"]
["CRYBA1","Cataract, Y-suture","Y-shaped sutural cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123610~-","CRYBA1"]
["CRYBA1","Cataract, zonular with sutural opacities","Cataract,Congenital Zonular, with Sutural Opacities","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123610~-","CRYBA1"]
["CRYBA2","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600836~-","CRYBA2"]
["CRYBA4","Cataract and microcornea","Cataract microcornea syndrome","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123631~-","CRYBA4"]
["CRYBA4","Cataract, lamellar","Congenital lamellar cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123631~-","CRYBA4"]
["CRYBA4","Microphthalmia","Microphthalmos","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123631~-","CRYBA4"]
["CRYBB1","Cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600929~-","CRYBB1"]
["CRYBB1","Cataract & microcornea","Cataract microcornea syndrome","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600929~-","CRYBB1"]
["CRYBB1","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600929~-","CRYBB1"]
["CRYBB1","Cataract, Autosomal Recessive","Congenital cataract","Autosomal Recessive","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600929~-","CRYBB1"]
["CRYBB1","Cataract-microcornea syndrome","Cataract microcornea syndrome","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600929~-","CRYBB1"]
["CRYBB2","Cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123620~-","CRYBB2"]
["CRYBB2","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123620~-","CRYBB2"]
["CRYBB2","Cataract, bilateral congenital posterior subcapsular","Posterior subcapsular polar infantile and juvenile cataract, bilateral","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123620~-","CRYBB2"]
["CRYBB2","Cataract, central nuclear","Cataract, Zonular Central Nuclear","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123620~-","CRYBB2"]
["CRYBB2","Cerulean cataract","Congenital blue dot cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123620~-","CRYBB2"]
["CRYBB3","Cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","HIGH","-~-~123630~-","CRYBB3"]
["CRYBB3","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","HIGH","-~-~123630~-","CRYBB3"]
["CRYBB3","Cataract, Autosomal Recessive","Congenital cataract","Autosomal Recessive","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","Cataract:Autosomal Dominant$Cataract:Autosomal Recessive","HIGH","-~-~123630~-","CRYBB3"]
["CRYGB","Congenital cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123670~-","CRYGB"]
["CRYGC","Cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123680~-","CRYGC"]
["CRYGC","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123680~-","CRYGC"]
["CRYGC","Cataract, coppock-like","Cataract, Coppock-Like","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123680~-","CRYGC"]
["CRYGC","Cataract, zonular pulverulent","Cataract, Pulverulent","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123680~-","CRYGC"]
["CRYGC","Nuclear cataracts with microcornea","Nuclear cataract;Microcornea","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123680~-","CRYGC"]
["CRYGD","Cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123690~-","CRYGD"]
["CRYGD","Cataract, aculeiform","Cataract, Crystalline Aculeiform","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123690~-","CRYGD"]
["CRYGD","Cataract, coralliform","Cataract, Crystalline Coralliform","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123690~-","CRYGD"]
["CRYGD","Cataract, pediatric","Juvenile cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123690~-","CRYGD"]
["CRYGD","Cataract, with protein crystallisation","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123690~-","CRYGD"]
["CRYGD","Punctate cataract, juvenile progressive","Cataract, Punctate, Progressive Juvenile-Onset","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123690~-","CRYGD"]
["CRYGS","Cataract, bilateral congenital","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123730~-","CRYGS"]
["CRYGS","Cataract, congenital","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123730~-","CRYGS"]
["CRYGS","Cataract, pediatric","Juvenile cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123730~-","CRYGS"]
["CRYGS","Progressive cortical cataract, Autosomal Dominant","Cortical cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~123730~-","CRYGS"]
["CRYM","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~123740~-","CRYM"]
["CRYM","Nonsyndromic deafness","Sensorineural hearing loss;Congenital deafness;Bilateral deafness","Autosomal Dominant","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~123740~-","CRYM"]
["CRYZL1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603920~-","CRYZL1"]
["CSDE1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~191510~-","CSDE1"]
["CSF1R","Hereditary diffuse leukoencephalopathy with spheroids","Gliosis, Familial Progressive Subcortical","Autosomal Dominant","Gliosis, Familial Progressive Subcortical:Autosomal Dominant","Gliosis, Familial Progressive Subcortical:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK100239~164770~-","CSF1R"]
["CSF1R","Leukodystrophy","Leukodystrophy","Autosomal Dominant","Gliosis, Familial Progressive Subcortical:Autosomal Dominant","Gliosis, Familial Progressive Subcortical:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK100239~164770~-","CSF1R"]
["CSF1R","Myleoid malignancy, predisposition","Myeloid neoplasm","Risk","Gliosis, Familial Progressive Subcortical:Autosomal Dominant","Gliosis, Familial Progressive Subcortical:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK100239~164770~-","CSF1R"]
["CSF2RA","Pulmonary alveolar proteinosis","NULL","X-linked Dominant ? Verify PMID 18955570","NULL","NULL","HIGH","-~-~306250~-","CSF2RA"]
["CSF2RB","Pulmonary alveolar proteinosis","Pulmonary alveolar proteinosis","Autosomal Recessive","Pulmonary alveolar proteinosis:Autosomal Recessive","Pulmonary alveolar proteinosis:Autosomal Recessive","HIGH","-~-~138981~-","CSF2RB"]
["CSF3R","Chronic neutrophilia","Chronic neutrophilia","Autosomal Dominant","Hereditary neutrophilia:Autosomal Dominant","Hereditary neutrophilia:Autosomal Dominant","HIGH","-~-~138971~-","CSF3R"]
["CSF3R","Neutropaenia","Chronic familial neutropenia","Autosomal Dominant","Hereditary neutrophilia:Autosomal Dominant","Hereditary neutrophilia:Autosomal Dominant","HIGH","-~-~138971~-","CSF3R"]
["CSGALNACT1","Hemi-facial palsy","Bell's palsy","Risk",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55790[geneid]~-~-~-","CSGALNACT1"]
["CSGALNACT1","Neuropathy, hereditary motor and sensory","Hereditary motor and sensory neuropathy","Risk",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55790[geneid]~-~-~-","CSGALNACT1"]
["CSMD1","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~608397~-","CSMD1"]
["CSMD1","Hyperinsulinism","Hyperinsulinism","Risk",null,null,"HIGH","-~-~608397~-","CSMD1"]
["CSMD3","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~608399~-","CSMD3"]
["CSNK1D","Adenomatous polyposis coli","Adenomatous polyposis coli","Risk","Advanced Sleep-Phase Syndrome, Familial:Autosomal Dominant","Advanced Sleep-Phase Syndrome, Familial:Autosomal Dominant","HIGH","-~-~600864~-","CSNK1D"]
["CSNK1D","Familial advanced sleep phase syndrome","Advanced Sleep-Phase Syndrome, Familial","Autosomal Dominant","Advanced Sleep-Phase Syndrome, Familial:Autosomal Dominant","Advanced Sleep-Phase Syndrome, Familial:Autosomal Dominant","HIGH","-~-~600864~-","CSNK1D"]
["CSNK1D","Migraine & advanced sleep phase","Migraine;Advanced Sleep-Phase Syndrome, Familial","Autosomal Dominant","Advanced Sleep-Phase Syndrome, Familial:Autosomal Dominant","Advanced Sleep-Phase Syndrome, Familial:Autosomal Dominant","HIGH","-~-~600864~-","CSNK1D"]
["CSRP3","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1M:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600824~-","CSRP3"]
["CSRP3","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1M:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600824~-","CSRP3"]
["CST3","Amyloidangiopathy","Hereditary cerebral amyloid angiopathy, Icelandic","Autosomal Dominant","Hereditary cerebral amyloid angiopathy, Icelandic:Autosomal Dominant$Macular Degeneration, Age-Related, 11:Autosomal Recessive$Age-related macular degeneration:Autosomal Recessive$Cerebral amyloid angiopathy:Autosomal Dominant","Age-related macular degeneration:Autosomal Recessive$Cerebral amyloid angiopathy:Autosomal Dominant","HIGH","-~-~604312~-","CST3"]
["CST9","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128822[geneid]~-~-~-","CST9"]
["CSTA","Acral peeling skin syndrome","Peeling skin syndrome, acral type","Autosomal Recessive","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like:Autosomal Recessive","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like:Autosomal Recessive","HIGH","-~-~184600~-","CSTA"]
["CSTA","Exfoliative ichthyosis","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like","Autosomal Recessive","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like:Autosomal Recessive","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like:Autosomal Recessive","HIGH","-~-~184600~-","CSTA"]
["CSTB","Epilepsy, progressive myoclonus","Progressive myoclonic epilepsy","Autosomal Dominant","Unverricht-Lundborg syndrome:Autosomal Recessive","Unverricht-Lundborg syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1142~601145~-","CSTB"]
["CSTB","Unverricht-Lundborg disease","Unverricht-Lundborg syndrome","Autosomal Recessive","Unverricht-Lundborg syndrome:Autosomal Recessive","Unverricht-Lundborg syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1142~601145~-","CSTB"]
["CSTF2T","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611968~-","CSTF2T"]
["CT45A5","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300796~-","CT45A5"]
["CTCF","Intellectual disability","Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~604167~-","CTCF"]
["CTDP1","Cataracts, facial dysmorphism, neuropathy","Congenital Cataracts, Facial Dysmorphism, And Neuropathy","Autosomal Recessive","Congenital Cataracts, Facial Dysmorphism, And Neuropathy:Autosomal Recessive","Congenital Cataracts, Facial Dysmorphism, And Neuropathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9150[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25565~604927~-","CTDP1"]
["CTF1","Cardiomyopathy, dilated","NULL","Need full text PMID 11058912","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1489[geneid]~-~600435~-","CTF1"]
["CTF1","Cardiomyopathy, dilated","NULL","Risk (The PMID 11058912 has no abstract associated. Cannot determine inheritance mode. Full text article required)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1489[geneid]~-~600435~-","CTF1"]
["CTF1","Ventricular hypertrophy in hypertension, protection against","Hypertensive left ventricular hypertrophy","Decreased Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1489[geneid]~-~600435~-","CTF1"]
["CTH","Altered homocysteine levels","Plasma homocysteine level, higher","Autosomal Recessive","Cystathioninuria:Autosomal Recessive$Plasma homocysteine level:Modifier","Cystathioninuria:Autosomal Recessive$Plasma homocysteine level:Modifier","HIGH","-~-~607657~-","CTH"]
["CTH","Cystathionine elevations","Plasma homocysteine level, higher","Autosomal Recessive","Cystathioninuria:Autosomal Recessive$Plasma homocysteine level:Modifier","Cystathioninuria:Autosomal Recessive$Plasma homocysteine level:Modifier","HIGH","-~-~607657~-","CTH"]
["CTH","Cystathioninuria","Cystathioninuria","Autosomal Recessive","Cystathioninuria:Autosomal Recessive$Plasma homocysteine level:Modifier","Cystathioninuria:Autosomal Recessive$Plasma homocysteine level:Modifier","HIGH","-~-~607657~-","CTH"]
["CTHRC1","Barrett oesophagus/oesophageal adenocarcinoma","NULL","Autosomal Dominant? Verify PMID 21791690","NULL","NULL","HIGH","-~-~610635~-","CTHRC1"]
["CTNNA1","Gastric cancer, diffuse","Gastric Cancer, Familial Diffuse","Autosomal Dominant",null,null,"HIGH","-~-~116805~-","CTNNA1"]
["CTNNA3","Arrhythmogenic right ventricular cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","-~-~607667~-","CTNNA3"]
["CTNNB1","Autism","Autistic Disorder","Risk","Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Mental retardation:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Pilomatrixoma:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Mental retardation:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Pilomatrixoma:Autosomal Dominant","HIGH","-~-~116806~-","CTNNB1"]
["CTNNB1","Colorectal adenoma","Adenoma of large intestine","Autosomal Recessive","Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Mental retardation:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Pilomatrixoma:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Mental retardation:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Pilomatrixoma:Autosomal Dominant","HIGH","-~-~116806~-","CTNNB1"]
["CTNNB1","Intellectual disability","Mental retardation","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Mental retardation:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Pilomatrixoma:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Mental retardation:Autosomal Dominant$Malignant tumor of ovary:Autosomal Dominant$Pilomatrixoma:Autosomal Dominant","HIGH","-~-~116806~-","CTNNB1"]
["CTNNB1","Mental Retardation","NULL","Autosomal Dominant (Not mentioned in HGMD. Listed in OMIM)","NULL","NULL","HIGH","-~-~116806~-","CTNNB1"]
["CTNS","Cystinosis","Cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, benign","Benign adult cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, intermediate","Juvenile nephropathic cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, late onset","Juvenile nephropathic cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, nephropathic","Juvenile nephropathic cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, nephropathic infantile","Infantile nephropathic cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, nephropathic infantile with congenital heart malformations","Infantile nephropathic cystinosis;Congenital heart defect","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, nephropathic juvenile","Juvenile nephropathic cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, nephropathic late-onset","Juvenile nephropathic cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTNS","Cystinosis, non-classical","Cystinosis","Autosomal Recessive","Cystinosis:Autosomal Recessive$Juvenile nephropathic cystinosis:Autosomal Recessive$Cystinosis, ocular nonnephropathic:Autosomal Recessive","Cystinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1400~606272~-","CTNS"]
["CTRC","Pancreatitis, alcohol-related","Alcohol-induced chronic pancreatitis","Risk","Chronic pancreatitis:Risk","Chronic pancreatitis:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11330[geneid]~-~601405~-","CTRC"]
["CTRC","Pancreatitis, chronic","Chronic pancreatitis","Risk","Chronic pancreatitis:Risk","Chronic pancreatitis:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11330[geneid]~-~601405~-","CTRC"]
["CTRC","Pancreatitis, tropical","Tropical calcific pancreatitis","Risk","Chronic pancreatitis:Risk","Chronic pancreatitis:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11330[geneid]~-~601405~-","CTRC"]
["CTSA","Galactosialidosis","Combined deficiency of sialidase AND beta galactosidase","Autosomal Recessive","Combined deficiency of sialidase AND beta galactosidase:Autosomal Recessive","Combined deficiency of sialidase AND beta galactosidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5476[geneid]~-~613111~-","CTSA"]
["CTSC","Haim-Munk syndrome","Keratosis palmoplantaris with periodontopathia and onychogryposis","Autosomal Recessive","Keratosis palmoplantaris with periodontopathia and onychogryposis:Autosomal Recessive$Papillon-Lefevre syndrome:Autosomal Recessive$Juvenile periodontitis:Autosomal Recessive","Keratosis palmoplantaris with periodontopathia and onychogryposis:Autosomal Recessive$Papillon-Lefevre syndrome:Autosomal Recessive$Juvenile periodontitis:Autosomal Recessive","HIGH","-~-~602365~-","CTSC"]
["CTSC","Papillon-Lefevre syndrome","Papillon-Lef?vre syndrome","Autosomal Recessive","Keratosis palmoplantaris with periodontopathia and onychogryposis:Autosomal Recessive$Papillon-Lefevre syndrome:Autosomal Recessive$Juvenile periodontitis:Autosomal Recessive","Keratosis palmoplantaris with periodontopathia and onychogryposis:Autosomal Recessive$Papillon-Lefevre syndrome:Autosomal Recessive$Juvenile periodontitis:Autosomal Recessive","HIGH","-~-~602365~-","CTSC"]
["CTSC","Periodontitis, juvenile","Juvenile periodontitis","Autosomal Recessive","Keratosis palmoplantaris with periodontopathia and onychogryposis:Autosomal Recessive$Papillon-Lefevre syndrome:Autosomal Recessive$Juvenile periodontitis:Autosomal Recessive","Keratosis palmoplantaris with periodontopathia and onychogryposis:Autosomal Recessive$Papillon-Lefevre syndrome:Autosomal Recessive$Juvenile periodontitis:Autosomal Recessive","HIGH","-~-~602365~-","CTSC"]
["CTSD","Cathepsin D deficiency","Ceroid Lipofuscinosis, Neuronal, 10","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 10:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1509[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~116840~-","CTSD"]
["CTSD","Neuronal ceroid lipofuscinosis, late infantile","Late-infantile neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 10:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1509[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~116840~-","CTSD"]
["CTSF","Kufs disease, type B","Adult neuronal ceroid lipofuscinosis","Autosomal Recessive","Adult neuronal ceroid lipofuscinosis:Autosomal Recessive$Kufs' disease:Autosomal Recessive","Adult neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~603539~-","CTSF"]
["CTSG","Elevated plasma fibrinogen levels","Cerebrovascular disease;Myocardial infarction","Risk",null,null,"HIGH","-~-~116830~-","CTSG"]
["CTSH","Myopia, severe","Severe myopia","Autosomal Recessive","Severe myopia:Autosomal Recessive","Severe myopia:Autosomal Recessive","HIGH","-~-~116820~-","CTSH"]
["CTSK","Pycnodysostosis","Pyknodysostosis","Autosomal Recessive","Pyknodysostosis:Autosomal Recessive","Pyknodysostosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1513[geneid]~-~601105~-","CTSK"]
["CTTNBP2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609772~-","CTTNBP2"]
["CUBN","Imerslund-Grasbeck syndrome","Selective malabsorption of cyanocobalamin","Autosomal Recessive","Imerslund-Grasbeck syndrome:Autosomal Recessive$Selective malabsorption of cyanocobalamin:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","Selective malabsorption of cyanocobalamin:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","HIGH","-~-~602997~-","CUBN"]
["CUBN","Megaloblastic anaemia","Megaloblastic anemia","Autosomal Recessive","Imerslund-Grasbeck syndrome:Autosomal Recessive$Selective malabsorption of cyanocobalamin:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","Selective malabsorption of cyanocobalamin:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","HIGH","-~-~602997~-","CUBN"]
["CUBN","Proteinuria","Proteinuria","Autosomal Recessive","Imerslund-Grasbeck syndrome:Autosomal Recessive$Selective malabsorption of cyanocobalamin:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","Selective malabsorption of cyanocobalamin:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","HIGH","-~-~602997~-","CUBN"]
["CUL3","Autism","Autistic Disorder","Risk","Pseudohypoaldosteronism:Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8452[geneid]~-~603136~-","CUL3"]
["CUL3","Congenital heart disease","Congenital heart disease","Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8452[geneid]~-~603136~-","CUL3"]
["CUL3","Pseudohypoaldosteronism type II","Pseudohypoaldosteronism, type 2","Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8452[geneid]~-~603136~-","CUL3"]
["CUL4B","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8450[geneid]~-~300304~-","CUL4B"]
["CUL5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601741~-","CUL5"]
["CUL7","3-M syndrome","Miller-McKusick-Malvaux-Syndrome","Autosomal Recessive","Miller-McKusick-Malvaux-Syndrome:Autosomal Recessive","Miller-McKusick-Malvaux-Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9820[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1481~609577~-","CUL7"]
["CUL7","Growth disorder","Growth Disorder","Autosomal Recessive","Miller-McKusick-Malvaux-Syndrome:Autosomal Recessive","Miller-McKusick-Malvaux-Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9820[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1481~609577~-","CUL7"]
["CUX2","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~610648~-","CUX2"]
["CXCR3","Reduced gene expression","Asthma","Risk","Asthma:Risk","Asthma:Risk","HIGH","-~-~300574~-","CXCR3"]
["CXCR4","WHIM syndrome","Warts, hypogammaglobulinemia, infections, and myelokathexis","Autosomal Dominant","Myelokathexis:Autosomal Recessive$Warts, hypogammaglobulinemia, infections, and myelokathexis:Autosomal Dominant","Myelokathexis:Autosomal Recessive$Warts, hypogammaglobulinemia, infections, and myelokathexis:Autosomal Dominant","HIGH","-~-~162643~-","CXCR4"]
["CYB5A","17,20-lyase deficiency, isolated","17,20-Lyase Deficiency, Isolated","Autosomal Recessive","Methemoglobinemia Type IV:Autosomal Recessive$Methemoglobinemia:Autosomal Recessive","Methemoglobinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1528[geneid]~-~613218~-","CYB5A"]
["CYB5A","46,XY disorder of sex development","46, XY Disorders of Sex Development","Autosomal Recessive","Methemoglobinemia Type IV:Autosomal Recessive$Methemoglobinemia:Autosomal Recessive","Methemoglobinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1528[geneid]~-~613218~-","CYB5A"]
["CYB5A","Methaemoglobinaemia 4","Methemoglobinemia Type IV","Autosomal Recessive","Methemoglobinemia Type IV:Autosomal Recessive$Methemoglobinemia:Autosomal Recessive","Methemoglobinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1528[geneid]~-~613218~-","CYB5A"]
["CYB5A","Reduced expression","NULL","No disease associations mentioned","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1528[geneid]~-~613218~-","CYB5A"]
["CYB5R3","Methaemoglobinaemia","Methemoglobinemia","Autosomal Recessive","Methemoglobinemia, Type I:Autosomal Recessive$Methemoglobinemia, Type II:Autosomal Recessive$Methemoglobinemia:Autosomal Recessive","Methemoglobinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1727[geneid]~-~613213~-","CYB5R3"]
["CYB5R3","Methaemoglobinaemia 1","Methemoglobinemia, Type I","Autosomal Recessive","Methemoglobinemia, Type I:Autosomal Recessive$Methemoglobinemia, Type II:Autosomal Recessive$Methemoglobinemia:Autosomal Recessive","Methemoglobinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1727[geneid]~-~613213~-","CYB5R3"]
["CYB5R3","Methaemoglobinaemia 2","Methemoglobinemia, Type II","Autosomal Recessive","Methemoglobinemia, Type I:Autosomal Recessive$Methemoglobinemia, Type II:Autosomal Recessive$Methemoglobinemia:Autosomal Recessive","Methemoglobinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1727[geneid]~-~613213~-","CYB5R3"]
["CYB5R3","Methaemoglobinaemia 3","Methemoglobinemia","Autosomal Recessive","Methemoglobinemia, Type I:Autosomal Recessive$Methemoglobinemia, Type II:Autosomal Recessive$Methemoglobinemia:Autosomal Recessive","Methemoglobinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1727[geneid]~-~613213~-","CYB5R3"]
["CYBA","Chronic granulomatous disease","Chronic granulomatous disease","Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~608508~-","CYBA"]
["CYBB","Chronic granulomatous disease","Chronic granulomatous disease","X-linked Recessive","Atypical Mycobacteriosis, Familial, X-Linked 2:X-linked Recessive$Mycobacteriosis:X-linked Recessive$Chronic granulomatous disease:X-linked Recessive","Mycobacteriosis:X-linked Recessive$Chronic granulomatous disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1536[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~300481~-","CYBB"]
["CYBB","Mycobacteriosis, atypical","Mycobacteriosis","X-linked Recessive","Atypical Mycobacteriosis, Familial, X-Linked 2:X-linked Recessive$Mycobacteriosis:X-linked Recessive$Chronic granulomatous disease:X-linked Recessive","Mycobacteriosis:X-linked Recessive$Chronic granulomatous disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1536[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~300481~-","CYBB"]
["CYBB","Primary immunodeficiency disease","Immunodeficiency disorder","X-linked Recessive","Atypical Mycobacteriosis, Familial, X-Linked 2:X-linked Recessive$Mycobacteriosis:X-linked Recessive$Chronic granulomatous disease:X-linked Recessive","Mycobacteriosis:X-linked Recessive$Chronic granulomatous disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1536[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~300481~-","CYBB"]
["CYBRD1","Iron overload","Iron overload","Autosomal Recessive ",null,null,"HIGH","-~-~605745~-","CYBRD1"]
["CYC1","Hyperglycaemia, insulin-responsive","Complex III deficiency","Autosomal Recessive ","Complex III deficiency:Autosomal Recessive$Ubiquinone dehydrogenase:Autosomal Recessive","Complex III deficiency:Autosomal Recessive$Ubiquinone dehydrogenase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1537[geneid]~-~123980~-","CYC1"]
["CYCS","Thrombocytopaenia","Thrombocytopenia","Autosomal Dominant","Thrombocytopenia 4:Autosomal Dominant$Thrombocytopenia:Autosomal Dominant","Thrombocytopenia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54205[geneid]~-~123970~-","CYCS"]
["CYLD","Brooke-Spiegler syndrome","Brooke-Spiegler syndrome","Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1540[geneid]~-~605018~-","CYLD"]
["CYLD","Cylindromatosis","Familial cylindromatosis","Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1540[geneid]~-~605018~-","CYLD"]
["CYLD","Cylindromatosis, familial","Familial cylindromatosis","Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1540[geneid]~-~605018~-","CYLD"]
["CYLD","Trichoepithelioma, multiple familial","Familial multiple trichoepitheliomata","Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","Brooke-Spiegler syndrome:Autosomal Dominant$Familial cylindromatosis:Autosomal Dominant$Familial multiple trichoepitheliomata:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1540[geneid]~-~605018~-","CYLD"]
["CYP11A1","Adrenal insufficiency","Adrenal cortical hypofunction","Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1583[geneid]~-~118485~-","CYP11A1"]
["CYP11A1","Adrenal insufficiency & hypospadias","Adrenal cortical hypofunction;Hypospadias","Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1583[geneid]~-~118485~-","CYP11A1"]
["CYP11A1","P450scc deficiency","P450scc deficiency","Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1583[geneid]~-~118485~-","CYP11A1"]
["CYP11A1","XY sex reversal and adrenal insufficiency","46, XY Disorders of Sex Development;Adrenal cortical hypofunction","Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","Adrenal cortical hypofunction:Autosomal Recessive$46, XY Disorders of Sex Development:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1583[geneid]~-~118485~-","CYP11A1"]
["CYP11B1","Adrenal hyperplasia","Adrenal hyperplasia","Autosomal Recessive","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1584[geneid]~-~610613~-","CYP11B1"]
["CYP11B1","Altered enzyme function","NULL","No disease associations mentioned","NULL","NULL","HIGH","-~-~610613~-","CYP11B1"]
["CYP11B1","Reduced expression","NULL","No disease associations mentioned","NULL","NULL","HIGH","-~-~610613~-","CYP11B1"]
["CYP11B1","Steroid-11 beta-hydroxylase deficiency","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1584[geneid]~-~610613~-","CYP11B1"]
["CYP11B1","Steroid-11 beta-hydroxylase deficiency, non-classic","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1584[geneid]~-~610613~-","CYP11B1"]
["CYP11B2","Aldosterone synthase deficiency","Hyperreninemic hypoaldosteronism","Autosomal Recessive","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1585[geneid]~-~124080~-","CYP11B2"]
["CYP11B2","Aldosterone synthase deficiency, type 1","Corticosterone 18-monooxygenase deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1585[geneid]~-~124080~-","CYP11B2"]
["CYP11B2","Aldosterone synthase deficiency, type 2","Corticosterone 18-monooxygenase deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1585[geneid]~-~124080~-","CYP11B2"]
["CYP11B2","Altered steroid production","NULL","No disease associations mentioned","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1585[geneid]~-~124080~-","CYP11B2"]
["CYP11B2","Corticosterone methyl oxidase deficiency","Corticosterone 18-monooxygenase deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency:Autosomal Recessive$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1585[geneid]~-~124080~-","CYP11B2"]
["CYP11B2","Hypoaldosteronism, primary selective","NULL","Verify from PMID 22465514","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1585[geneid]~-~124080~-","CYP11B2"]
["CYP17A1","17,20-lyase deficiency","17,20-Lyase Deficiency, Isolated","Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1586[geneid]~-~609300~-","CYP17A1"]
["CYP17A1","17-alpha-hydroxylase/17,20-lyase deficiency","17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete","Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1586[geneid]~-~609300~-","CYP17A1"]
["CYP17A1","Pseudohermaphroditism","Pseudohermaphroditism","Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1586[geneid]~-~609300~-","CYP17A1"]
["CYP17A1","Steroid-17 alpha-hydroxylase deficiency","Deficiency of steroid 17-alpha-monooxygenase","Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","17,20-Lyase Deficiency, Isolated:Autosomal Recessive$17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1586[geneid]~-~609300~-","CYP17A1"]
["CYP19A1","Aromatase deficiency","Aromatase deficiency","Autosomal Recessive","Aromatase deficiency:Autosomal Recessive","Aromatase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1588[geneid]~-~107910~-","CYP19A1"]
["CYP1A1","Aryl hydrocarbon hydroxylase deficiency","Deficiency of unspecific monooxygenase","Autosomal Recessive ",null,null,"HIGH","-~-~108330~-","CYP1A1"]
["CYP1A2","Decreased protein expression","Drug Response","Autosomal Dominant","NULL","NULL","HIGH","-~-~124060~-","CYP1A2"]
["CYP1A2","Poor clozapine metabolism","Carcinogen effect;Drug Response","Pharmacogenetic",null,null,"HIGH","-~-~124060~-","CYP1A2"]
["CYP1A2","Reduced catalytic activity","Carcinogen effect;Drug Response","Pharmacogenetic",null,null,"HIGH","-~-~124060~-","CYP1A2"]
["CYP1B1","Corneal opacification / infantile glaucoma","Glaucoma 3, Primary Congenital, D","Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Glaucoma 1, open angle","NULL","Modifier? (Age of onset modified in MYOC mutants PMID 15342693)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Glaucoma, congenital","Primary congenital glaucoma","Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Glaucoma, newborn","Glaucoma of childhood","Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Glaucoma, open angle, juvenile onset","NULL","Modifier? (Age of onset modified in MYOC mutants PMID 15342693)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Glaucoma, primary congenital","Primary congenital glaucoma","Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Glaucoma, primary open angle","NULL","Modifier? (Age of onset modified in MYOC mutants PMID 15342693)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Ocular hypertension","Ocular hypertension","Autosomal Dominant","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP1B1","Peters' anomaly","Irido-corneo-trabecular dysgenesis","Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","Primary open angle glaucoma:Autosomal Recessive$Irido-corneo-trabecular dysgenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1135~601771~-","CYP1B1"]
["CYP21A2","21-hydroxylase deficiency","21-hydroxylase deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","21-hydroxylase deficiency, intermediate form","Moderate steroid 21-hydroxylase deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","21-hydroxylase deficiency, non-classical","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","21-hydroxylase deficiency, simple virilizing form","Deficiency of steroid 21-monooxygenase","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","21-hydroxylase deficiency, with salt wasting","Steroid 21-monooxygenase deficiency, salt wasting type","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","21-hydroxylase deficiency, without salt wasting","Deficiency of steroid 21-monooxygenase","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","Adrenal hyperplasia","Adrenal hyperplasia","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","Hyperandrogenism","Hyperandrogenization syndrome","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","Non-classic 21-hydroxylase deficiency","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP21A2","Premature pubarche","Precocious pubarche","Autosomal Recessive","Congenital adrenal hyperplasia due to 21 hydroxylase deficiency:Autosomal Recessive$Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","Adrenal hyperplasia:Autosomal Recessive$Hyperandrogenization syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1589[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1171~613815~-","CYP21A2"]
["CYP24A1","Hypercalcaemia, hypercalciuria & elevated calcitriol concentrations","Hypercalcemia;Hypercalciuria;Elevated Calcitriol","Autosomal Dominant","Infantile hypercalcemia:Autosomal Recessive","Infantile hypercalcemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1591[geneid]~-~126065~-","CYP24A1"]
["CYP24A1","Hypercalcaemia, idiopathic infantile","Idiopathic infantile hypercalcemia","Autosomal Recessive","Infantile hypercalcemia:Autosomal Recessive","Infantile hypercalcemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1591[geneid]~-~126065~-","CYP24A1"]
["CYP24A1","Hypercalciuric nephrolithiasis and nephrocalcinosis","Kidney stone;Nephrocalcinosis","Autosomal Recessive","Infantile hypercalcemia:Autosomal Recessive","Infantile hypercalcemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1591[geneid]~-~126065~-","CYP24A1"]
["CYP24A1","Reduced gene expression","Neoplastic disease","Risk","Infantile hypercalcemia:Autosomal Recessive","Infantile hypercalcemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1591[geneid]~-~126065~-","CYP24A1"]
["CYP26A1","Reduced mRNA splicing efficiency","NULL","No disease associations mentioned","NULL","NULL","HIGH","-~-~602239~-","CYP26A1"]
["CYP26A1","Reduced mRNA splicing efficiency","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~602239~-","CYP26A1"]
["CYP26B1","Multiple skeletal anomalies","Craniosynostosis syndrome","Autosomal Recessive","Craniosynostosis syndrome:Autosomal Recessive","Craniosynostosis syndrome:Autosomal Recessive","HIGH","-~-~605207~-","CYP26B1"]
["CYP26C1","Focal facial dermal dysplasia IV","Familial focal facial dermal dysplasia","Autosomal Recessive","Familial focal facial dermal dysplasia:Autosomal Recessive","Familial focal facial dermal dysplasia:Autosomal Recessive","HIGH","-~-~608428~-","CYP26C1"]
["CYP27A1","Cerebrotendinous xanthomatosis","Cholestanol storage disease","Autosomal Recessive","Cholestanol storage disease:Autosomal Recessive","Cholestanol storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1593[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1409~606530~-","CYP27A1"]
["CYP27A1","Cerebrotendinous xanthomatosis, with parkinsonism","Cholestanol storage disease;Parkinsonism","Autosomal Recessive","Cholestanol storage disease:Autosomal Recessive","Cholestanol storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1593[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1409~606530~-","CYP27A1"]
["CYP27B1","Multiple sclerosis","Multiple sclerosis","Autosomal Dominant","Vitamin D-dependent rickets, type 1:Autosomal Recessive$Vitamin D-dependent rickets:Autosomal Recessive","Vitamin D-dependent rickets:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1594[geneid]~-~609506~-","CYP27B1"]
["CYP27B1","Pseudovitamin D-deficiency rickets","Vitamin D-dependent rickets, type 1","Autosomal Recessive","Vitamin D-dependent rickets, type 1:Autosomal Recessive$Vitamin D-dependent rickets:Autosomal Recessive","Vitamin D-dependent rickets:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1594[geneid]~-~609506~-","CYP27B1"]
["CYP27B1","Rickets, vitamin D dependent, type I","Vitamin D-dependent rickets, type 1","Autosomal Recessive","Vitamin D-dependent rickets, type 1:Autosomal Recessive$Vitamin D-dependent rickets:Autosomal Recessive","Vitamin D-dependent rickets:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1594[geneid]~-~609506~-","CYP27B1"]
["CYP27B1","Rickets, vitamin D dependent, type IA","Vitamin D-dependent rickets, type 1","Autosomal Recessive","Vitamin D-dependent rickets, type 1:Autosomal Recessive$Vitamin D-dependent rickets:Autosomal Recessive","Vitamin D-dependent rickets:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1594[geneid]~-~609506~-","CYP27B1"]
["CYP2A13","Decreased catalytic efficiency","Carcinogen effect;Drug Response","Pharmacogenetic",null,null,"HIGH","-~-~608055~-","CYP2A13"]
["CYP2A13","Null allele","Carcinogen effect","Decreased Risk",null,null,"HIGH","-~-~608055~-","CYP2A13"]
["CYP2A6","Altered mRNA stability","Drug Response","Pharmacogenetic","Coumarin Resistance:Autosomal Dominant","Coumarin Resistance:Autosomal Dominant","HIGH","-~-~122720~-","CYP2A6"]
["CYP2A6","Impaired coumarin metabolism","Drug Response","Pharmacogenetic","Coumarin Resistance:Autosomal Dominant","Coumarin Resistance:Autosomal Dominant","HIGH","-~-~122720~-","CYP2A6"]
["CYP2A6","Impaired nicotine metabolism","Drug Response","Pharmacogenetic","Coumarin Resistance:Autosomal Dominant","Coumarin Resistance:Autosomal Dominant","HIGH","-~-~122720~-","CYP2A6"]
["CYP2A6","Poor metaboliser","Nicotine dependence","Decreased Risk","Coumarin Resistance:Autosomal Dominant","Coumarin Resistance:Autosomal Dominant","HIGH","-~-~122720~-","CYP2A6"]
["CYP2B6","Almost complete loss of function","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2B6","Altered (S)-methadone metabolism","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2B6","Altered CYP2B6 expression","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2B6","Complete loss of function","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2B6","CYP2B6 expression","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2B6","Decreased expression","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2B6","Impaired efavirenz metabolism","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2B6","Reduced expression","Drug Response","Pharmacogenetic","Drug Response-Efavirenz:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~123930~-","CYP2B6"]
["CYP2C18","Null allele","NULL","Need PMID 8845859 to determine disease association and inheritance","NULL","NULL","HIGH","-~-~601131~-","CYP2C18"]
["CYP2C18","Null allele","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~601131~-","CYP2C18"]
["CYP2C19","Poor metaboliser","Drug Response","Pharmacogenetic","Drug Response-Clopidogrel:Modifier$Drug Response-Mephenytoin:Modifier$Drug Response-Opremazole:Modifer$Drug Response-Proguanil:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1557[geneid]~-~124020~-","CYP2C19"]
["CYP2C19","Reduced holoprotein levels","Drug Response","Pharmacogenetic","Drug Response-Clopidogrel:Modifier$Drug Response-Mephenytoin:Modifier$Drug Response-Opremazole:Modifer$Drug Response-Proguanil:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1557[geneid]~-~124020~-","CYP2C19"]
["CYP2C19","Ultrarapid metaboliser","Drug Response","Pharmacogenetic","Drug Response-Clopidogrel:Modifier$Drug Response-Mephenytoin:Modifier$Drug Response-Opremazole:Modifer$Drug Response-Proguanil:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1557[geneid]~-~124020~-","CYP2C19"]
["CYP2C8","Poor metaboliser","Drug Response","Pharmacogenetic","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","HIGH","-~-~601129~-","CYP2C8"]
["CYP2C8","Poor paclitaxel metabolism","Drug Response","Pharmacogenetic","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","HIGH","-~-~601129~-","CYP2C8"]
["CYP2C8","Reduced expression","Drug Response","Pharmacogenetic","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","HIGH","-~-~601129~-","CYP2C8"]
["CYP2C8","Rhabdomyolysis after cerivastatin treatment","Rhabdomyolysis","Autosomal Dominant","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","Rhabdomyolysis, Cerivastatin-Induced:Autosomal Recessive","HIGH","-~-~601129~-","CYP2C8"]
["CYP2C9","Coumarin hypersensitivity","Drug Response","Pharmacogenetic","Drug Response-Tolbutamide:Modifier$Warfarin sensitivity:Autosomal Dominant$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1559[geneid]~-~601130~-","CYP2C9"]
["CYP2C9","Impaired diclofenac metabolism","Drug Response","Pharmacogenetic","Drug Response-Tolbutamide:Modifier$Warfarin sensitivity:Autosomal Dominant$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1559[geneid]~-~601130~-","CYP2C9"]
["CYP2C9","Poor metaboliser","Drug Response","Pharmacogenetic","Drug Response-Tolbutamide:Modifier$Warfarin sensitivity:Autosomal Dominant$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1559[geneid]~-~601130~-","CYP2C9"]
["CYP2C9","Warfarin sensitivity","Drug Response","Pharmacogenetic","Drug Response-Tolbutamide:Modifier$Warfarin sensitivity:Autosomal Dominant$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1559[geneid]~-~601130~-","CYP2C9"]
["CYP2D6","Cytochrome P450 deficiency","Drug Response","Pharmacogenetic","Drug Response-Codeine:Modifier$Drug Response-Debrisoquin:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1565[geneid]~-~124030~-","CYP2D6"]
["CYP2D6","Decreased response to PKA-mediated phosphorylation","Drug Response","Pharmacogenetic","Drug Response-Codeine:Modifier$Drug Response-Debrisoquin:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1565[geneid]~-~124030~-","CYP2D6"]
["CYP2D6","Intermediate metaboliser","Drug Response","Pharmacogenetic","Drug Response-Codeine:Modifier$Drug Response-Debrisoquin:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1565[geneid]~-~124030~-","CYP2D6"]
["CYP2D6","Poor metaboliser","Drug Response","Pharmacogenetic","Drug Response-Codeine:Modifier$Drug Response-Debrisoquin:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1565[geneid]~-~124030~-","CYP2D6"]
["CYP2D6","Ultrarapid metaboliser","Drug Response","Pharmacogenetic","Drug Response-Codeine:Modifier$Drug Response-Debrisoquin:Modifier$Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1565[geneid]~-~124030~-","CYP2D6"]
["CYP2J2","Loss of enzyme activity","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~601258~-","CYP2J2"]
["CYP2J2","Lower arachidonic & linoleic acid metabolism","Essential hypertension","Risk",null,null,"HIGH","-~-~601258~-","CYP2J2"]
["CYP2J2","Lower arachidonic acid metabolism","Essential hypertension","Risk",null,null,"HIGH","-~-~601258~-","CYP2J2"]
["CYP2R1","25-hydroxyvitamin D deficiency","Vitamin D Hydroxylation-Deficient Rickets, Type 1B","Autosomal Recessive ","Vitamin D Hydroxylation-Deficient Rickets, Type 1B:Autosomal Recessive$Vitamin D-dependent rickets:Autosomal Recessive","Vitamin D-dependent rickets:Autosomal Recessive","HIGH","-~-~608713~-","CYP2R1"]
["CYP2U1","Spastic paraplegia","Spastic paraplegia","Autosomal Recessive ","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~610670~-","CYP2U1"]
["CYP3A4","Altered gene expression","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~124010~-","CYP3A4"]
["CYP3A4","CYP3A4 null allele","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~124010~-","CYP3A4"]
["CYP3A4","CYP3A4 variant","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~124010~-","CYP3A4"]
["CYP3A43","CYP3A43 null allele","NULL","No disease associations mentioned","NULL","NULL","HIGH","-~-~606534~-","CYP3A43"]
["CYP3A5","Altered gene expression","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~605325~-","CYP3A5"]
["CYP3A5","CYP3A5 variant","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~605325~-","CYP3A5"]
["CYP3A5","Poor metaboliser","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~605325~-","CYP3A5"]
["CYP3A7","Null allele","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~605340~-","CYP3A7"]
["CYP4A22","Null allele","NULL","No disease associations mentioned","NULL","NULL",null,"-~-~-~-","CYP4A22"]
["CYP4A22","Null allele","NULL","No particular disorder mentioned","NULL","NULL",null,"-~-~~-","CYP4A22"]
["CYP4B1","CYP4B1 null allele","NULL","No disease associations mentioned","NULL","NULL","HIGH","-~-~124075~-","CYP4B1"]
["CYP4B1","CYP4B1 null allele","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~124075~-","CYP4B1"]
["CYP4F22","Ichthyosis, congenital, Autosomal Recessive","Congenital ichthyosis of skin","Autosomal Recessive","Congenital ichthyosis of skin:Autosomal Recessive$Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive:Autosomal Recessive","Congenital ichthyosis of skin:Autosomal Recessive$Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~611495~-","CYP4F22"]
["CYP4F22","Lamellar ichthyosis with hyperlinearity of palms & soles","Lamellar ichthyosis","Autosomal Recessive","Congenital ichthyosis of skin:Autosomal Recessive$Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive:Autosomal Recessive","Congenital ichthyosis of skin:Autosomal Recessive$Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~611495~-","CYP4F22"]
["CYP4F3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601270~-","CYP4F3"]
["CYP4V2","Bietti crystalline corneoretinal dystrophy","Bietti's crystalline retinopathy","Autosomal Recessive","Bietti's crystalline retinopathy:Autosomal Recessive","Bietti's crystalline retinopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK91457~608614~-","CYP4V2"]
["CYP4V2","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Bietti's crystalline retinopathy:Autosomal Recessive","Bietti's crystalline retinopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK91457~608614~-","CYP4V2"]
["CYP51A1","Paediatric cataract","Juvenile cataract","Autosomal Recessive",null,null,"HIGH","-~-~601637~-","CYP51A1"]
["CYP7A1","Hypercholesterolaemia","Hyperlipidemia","Risk",null,null,"HIGH","-~-~118455~12093894","CYP7A1"]
["CYP7B1","Cholestasis, severe","Cholestasis;Bile Acid Synthesis Defect, Congenital, 3","Autosomal Recessive","Bile Acid Synthesis Defect, Congenital, 3:Autosomal Recessive$Spastic paraplegia type 5A, recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9420[geneid]~-~603711~-","CYP7B1"]
["CYP7B1","Spastic paraplegia","Spastic paraplegia type 5A, recessive","Autosomal Recessive","Bile Acid Synthesis Defect, Congenital, 3:Autosomal Recessive$Spastic paraplegia type 5A, recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9420[geneid]~-~603711~-","CYP7B1"]
["CYP7B1","Spastic paraplegia 5","Spastic paraplegia type 5A, recessive","Autosomal Recessive","Bile Acid Synthesis Defect, Congenital, 3:Autosomal Recessive$Spastic paraplegia type 5A, recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9420[geneid]~-~603711~-","CYP7B1"]
["CYSLTR2","Increased expression","Aspirin-sensitive asthma with nasal polyps","Risk","Asthma:Risk","Asthma:Risk","HIGH","-~-~605666~-","CYSLTR2"]
["CYTSA","Oblique facial clefting","Oculomaxillofacial dysostosis","Autosomal Dominant","Facial clefting, oblique, 1:Autosomal Dominant$Oculomaxillofacial dysostosis:Autosomal Dominant","Oculomaxillofacial dysostosis:Autosomal Dominant","HIGH","-~-~614140~-","SPECC1L"]
["D2HGDH","D-2-hydroxyglutaric aciduria","D-2-hydroxyglutaric aciduria","Autosomal Recessive","D-2-hydroxyglutaric aciduria:Autosomal Recessive","D-2-hydroxyglutaric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=728294[geneid]~-~609186~-","D2HGDH"]
["DAB2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601236~-","DAB2"]
["DACH1","Renal hypodysplasia","Renal hypodysplasia","Autosomal Recessive",null,null,"HIGH","-~-~603803~-","DACH1"]
["DACT1","Neural tube defects","Neural tube defect","Autosomal Dominant","Neural tube defect:Autosomal Dominant","Neural tube defect:Autosomal Dominant","HIGH","-~-~607861~-","DACT1"]
["DAG1","Autism","Autistic Disorder","Risk","Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","-~-~128239~-","DAG1"]
["DAG1","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","-~-~128239~-","DAG1"]
["DAO","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~124050~-","DAO"]
["DAPK1","Chronic lymphocytic leukaemia","Chronic lymphoid leukemia, disease","Risk","Chronic lymphoid leukemia, disease:Risk","Chronic lymphoid leukemia, disease:Risk","HIGH","-~-~600831~-","DAPK1"]
["DARC","Duffy blood group antigen, absence","Duffy Blood group system","Risk","Duffy Blood group system:Autosomal Dominant$White blood cell count:Modifier","Duffy Blood group system:Autosomal Dominant$White blood cell count:Modifier","HIGH","-~-~613665~-","DARC"]
["DARC","Duffy blood group variation","Duffy Blood group system","Risk","Duffy Blood group system:Autosomal Dominant$White blood cell count:Modifier","Duffy Blood group system:Autosomal Dominant$White blood cell count:Modifier","HIGH","-~-~613665~-","DARC"]
["DARS","Hypomyelination with brain stem and spinal cord involvement and leg spasticity","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation","Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","HIGH","-~-~603084~-","DARS"]
["DARS2","Episodic ataxia, exercise-induced","Episodic ataxia","Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43417~610956~-","DARS2"]
["DARS2","Leukoencephalopathy with brainstem & spinal cord involvement","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation","Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43417~610956~-","DARS2"]
["DARS2","Leukoencephalopathy, brain & spine involvement, lactate elevation","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation","Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43417~610956~-","DARS2"]
["DAZL","Ovarian failure","Female infertility","Autosomal Recessive ","Primary spermatogenic failure:Autosomal Recessive","Primary spermatogenic failure:Autosomal Recessive","HIGH","-~-~601486~-","DAZL"]
["DAZL","Premature ovarian failure","Female infertility","Autosomal Recessive ","Primary spermatogenic failure:Autosomal Recessive","Primary spermatogenic failure:Autosomal Recessive","HIGH","-~-~601486~-","DAZL"]
["DBF4B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611661~-","DBF4B"]
["DBH","Dopamine beta hydroxylase deficiency","Dopamine beta-hydroxylase deficiency","Autosomal Recessive","Dopamine beta-hydroxylase deficiency:Autosomal Recessive","Dopamine beta-hydroxylase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1474~609312~-","DBH"]
["DBH","Norepinephrine deficiency","Dopamine beta-hydroxylase deficiency","Autosomal Recessive","Dopamine beta-hydroxylase deficiency:Autosomal Recessive","Dopamine beta-hydroxylase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1474~609312~-","DBH"]
["DBT","Maple syrup urine disease","Maple Syrup Urine Disease, Type II","Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive$Maple syrup urine disease, type 2:Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1319~248610~-","DBT"]
["DBT","Maple syrup urine disease 2","Maple Syrup Urine Disease, Type II","Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive$Maple syrup urine disease, type 2:Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1319~248610~-","DBT"]
["DCAF13","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","DCAF13"]
["DCAF4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26094[geneid]~-~-~-","DCAF4"]
["DCAKD","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","DCAKD"]
["DCC","Mirror movements, congenital","Mirror movements","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Carcinoma of esophagus:Autosomal Dominant$Mirror movements:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Carcinoma of esophagus:Autosomal Dominant$Mirror movements:Autosomal Dominant","HIGH","-~-~120470~-","DCC"]
["DCDC2","Respiratory disease, aspirin-exacerbated","Aspirin-sensitive asthma with nasal polyps","Risk","Asthma:Risk","Asthma:Risk","HIGH","-~-~605755~-","DCDC2"]
["DCI","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk",null,null,"HIGH","-~-~600305~-","ECI1"]
["DCLRE1C","DCLRE1C deficiency","NULL","Need full text PMID 19967552","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64421[geneid]~-~605988~-","DCLRE1C"]
["DCLRE1C","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64421[geneid]~-~605988~-","DCLRE1C"]
["DCLRE1C","Immunodeficiency, severe combined, atypical","Severe combined immunodeficiency, atypical","Autosomal Recessive","Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64421[geneid]~-~605988~-","DCLRE1C"]
["DCLRE1C","Omenn syndrome","Histiocytic medullary reticulosis","Autosomal Recessive","Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64421[geneid]~-~605988~-","DCLRE1C"]
["DCN","Congenital stromal dystrophy","Corneal Dystrophy, Congenital Stromal","Autosomal Dominant","Corneal Dystrophy, Congenital Stromal:Autosomal Dominant$Stromal corneal dystrophy:Autosomal Dominant","Stromal corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2690~125255~-","DCN"]
["DCP1","Increased serum ACE concentration","Coronary arteriosclerosis;Hypertensive disorder","Risk","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1636[geneid]~-~106180~-","ACE"]
["DCP1","Reduced expression","Coronary arteriosclerosis;Hypertensive disorder","Risk","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1636[geneid]~-~106180~-","ACE"]
["DCP1","Renal tubular dysgenesis","Renal dysplasia","Autosomal Recessive","Renal dysplasia:Autosomal Recessive","Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1636[geneid]~-~106180~-","ACE"]
["DCTN1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1639[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47027~601143~-","DCTN1"]
["DCTN1","Amyotrophic lateral sclerosis & dementia","Amyotrophic lateral sclerosis;Dementia","Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1639[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47027~601143~-","DCTN1"]
["DCTN1","Motor neuron disease, lower","Lower motor neuron disease","Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1639[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47027~601143~-","DCTN1"]
["DCTN1","Perry syndrome","Perry Syndrome","Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type VIIB:Autosomal Dominant$Perry Syndrome:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1639[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47027~601143~-","DCTN1"]
["DCX","Agyria","Agyria","X-linked Dominant","Lissencephaly, X-Linked, 2:X-linked dominant$Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCX","Agyria-pachygyria","Miller Dieker syndrome","X-linked Dominant","Lissencephaly, X-Linked, 2:X-linked dominant$Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCX","Double cortex syndrome","Subcortical Band Heterotopia","X-linked Dominant","Lissencephaly, X-Linked, 2:X-linked dominant$Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCX","Lennox-Gastaut syndrome","NULL","X-linked Recessive? Verify from PMID 20726879","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCX","Lissencephaly","Lissencephaly 3","X-linked Dominant","Lissencephaly, X-Linked, 2:X-linked dominant$Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCX","Lissencephaly syndrome, X linked","Lissencephaly, X-Linked, 2","X-linked Dominant","Lissencephaly, X-Linked, 2:X-linked dominant$Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCX","Resistant partial seizures","Partial seizure","X-linked Dominant","Lissencephaly, X-Linked, 2:X-linked dominant$Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCX","Subcortical band heterotopia","Subcortical Band Heterotopia","X-linked Dominant","Lissencephaly, X-Linked, 2:X-linked dominant$Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","Lissencephaly:X-linked dominant$Lissencephaly and agenesis of corpus callosum:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1641[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1185~300121~-","DCX"]
["DCXR","Pentosuria","Essential pentosuria","Autosomal Recessive","Essential pentosuria:Autosomal Recessive","Essential pentosuria:Autosomal Recessive","HIGH","-~-~608347~-","DCXR"]
["DDB2","Xeroderma pigmentosum ","Xeroderma pigmentosum, group E","Autosomal Recessive","Xeroderma pigmentosum, group E:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~600811~-","DDB2"]
["DDC","Aromatic L-amino acid decarboxylase deficiency","Deficiency of aromatic-L-amino-acid decarboxylase","Autosomal Recessive","Deficiency of aromatic-L-amino-acid decarboxylase:Autosomal Recessive","Deficiency of aromatic-L-amino-acid decarboxylase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1644[geneid]~-~107930~-","DDC"]
["DDHD1","Spastic paraplegia","Spastic paraplegia","Autosomal Recessive","Spastic Paraplegia 28, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~614603~-","DDHD1"]
["DDHD2","Spastic paraplegia","Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~615003~-","DDHD2"]
["DDOST","Congenital disorder of glycosylation","Congenital disorder of glycosylation type Ir","Autosomal Recessive","Congenital disorder of glycosylation type Ir:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1650[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~602202~-","DDOST"]
["DDR2","Spondylo-meta-epiphyseal dysplasia, short limb-hand type","Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type","Autosomal Recessive","Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:Autosomal Recessive","Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:Autosomal Recessive","HIGH","-~-~191311~-","DDR2"]
["DDX11","Warsaw breakage syndrome","Warsaw breakage syndrome","Autosomal Recessive","Warsaw breakage syndrome:Autosomal Recessive","Warsaw breakage syndrome:Autosomal Recessive","HIGH","-~-~601150~-","DDX11"]
["DDX25","Loss of phosphorylation","Azoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~607663~-","DDX25"]
["DDX47","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","DDX47"]
["DDX58","Increased anti-viral immune response","Immune response, function","Modifier",null,null,"HIGH","-~-~609631~-","DDX58"]
["DEAF1","Intellectual disability, nonsyndromic","Intellectual Disability","Risk",null,null,"HIGH","-~-~602635~-","DEAF1"]
["DEAF1","Mental retardation","Mental retardation","Risk",null,null,"HIGH","-~-~602635~-","DEAF1"]
["DEFB126","Impaired sperm function","Male infertility","Autosomal Recessive ",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81623[geneid]~-~-~-","DEFB126"]
["DENND5A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23258[geneid]~-~-~-","DENND5A"]
["DENR","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604550~-","DENR"]
["DEPDC5","Epilepsy, familial focal with variable foci","Localization-related epilepsy","Autosomal Dominant","Localization-related epilepsy:Autosomal Dominant","Localization-related epilepsy:Autosomal Dominant","HIGH","-~-~614191~-","DEPDC5"]
["DEPDC5","Epilepsy, familial temporal lobe","Temporal epilepsy, familial","Autosomal Dominant","Localization-related epilepsy:Autosomal Dominant","Localization-related epilepsy:Autosomal Dominant","HIGH","-~-~614191~-","DEPDC5"]
["DEPDC5","Epilepsy, nocturnal frontal lobe, Autosomal Dominant","Epilepsy, Nocturnal Frontal Lobe","Autosomal Dominant","Localization-related epilepsy:Autosomal Dominant","Localization-related epilepsy:Autosomal Dominant","HIGH","-~-~614191~-","DEPDC5"]
["DES","Arrhythmogenic right ventricular cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Atrioventricular block and mild myopathy","Atrioventricular Block;Myopathy","Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Cardiomyopathy, hypertrophic","NULL","Modifier (PMID 16585054)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Cardiomyopathy, restrictive with atrioventricular block","Restrictive cardiomyopathy","Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Cardiomyopathy, restrictive with atrioventricular block","Restrictive cardiomyopathy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Desmin myopathy with cardiomyopathy","Eichsfeld type congenital muscular dystrophy;Cardiomyopathy","Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Limb-girdle muscular dystrophy","NULL","Autosomal Recessive (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Muscular dystrophy, limb girdle 2","Limb-girdle muscular dystrophy type 2A","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Myopathy, desmin related","Eichsfeld type congenital muscular dystrophy","Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Myopathy, desmin related","Eichsfeld type congenital muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Cardiomyopathy, Dilated, 1i:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Recessive$Dilated cardiomyopathy:Autosomal Dominant$ Myopathy, Myofibrillar, Desmin-Related:Autosomal Dominant$Scapuloperoneal Syndrome, Neurogenic, Kaeser Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DES","Scapuloperoneal Syndrome, Neurogenic, Kaeser Type","NULL","Autosomal Dominant (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~125660~-","DES"]
["DFNA5","Deafness, non-syndromic, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant 5:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1687[geneid]~-~608798~-","DFNA5"]
["DFNA5","Hearing loss, non-syndromic","Hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant 5:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1687[geneid]~-~608798~-","DFNA5"]
["DFNB31","Deafness, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25861[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~607928~-","DFNB31"]
["DFNB31","Usher syndrome","Usher syndrome type 1","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25861[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~607928~-","DFNB31"]
["DFNB31","Usher syndrome 2","Usher syndrome type 2","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25861[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~607928~-","DFNB31"]
["DFNB31","Usher syndrome 3","Usher syndrome type 3","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25861[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~607928~-","DFNB31"]
["DFNB59","Auditory neuropathy","Auditory neuropathy spectrum disorder","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=494513[geneid]~-~610219~-","DFNB59"]
["DFNB59","Auditory neuropathy spectrum disorder","Auditory neuropathy spectrum disorder","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=494513[geneid]~-~610219~-","DFNB59"]
["DFNB59","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=494513[geneid]~-~610219~-","DFNB59"]
["DFNB59","Progressive hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=494513[geneid]~-~610219~-","DFNB59"]
["DFNB59","Progressive hearing loss, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 31:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome type 2:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=494513[geneid]~-~610219~-","DFNB59"]
["DGAT1","Congenital diarrhoeal disorder","Diarrheal disorder","Autosomal Recessive",null,null,"HIGH","-~-~604900~-","DGAT1"]
["DGAT2L6","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","DGAT2L6"]
["DGCR14","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601755~-","DGCR14"]
["DGCR2","Schizophrenia","Schizophrenia","Autosomal Dominant","Digeorge Syndrome/Velocardiofacial Syndrome Complex 2:Risk","Digeorge Syndrome/Velocardiofacial Syndrome Complex 2:Risk","HIGH","-~-~600594~-","DGCR2"]
["DGKE","Glomerular microangiopathy","Mesangiocapillary glomerulonephritis","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","-~-~601440~-","DGKE"]
["DGKE","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","-~-~601440~-","DGKE"]
["DGUOK","Mitochondrial DNA depletion syndrome","Depletion of mitochondrial DNA","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7040~601465~-","DGUOK"]
["DGUOK","Mitochondrial myopathy","Mitochondrial myopathy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7040~601465~-","DGUOK"]
["DHCR24","Desmosterolosis","Desmosterolosis","Autosomal Recessive","Desmosterolosis:Autosomal Recessive","Desmosterolosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1718[geneid]~-~606418~-","DHCR24"]
["DHCR7","Holoprosencephaly","Holoprosencephaly sequence","Autosomal Recessive","Smith-Lemli-Opitz syndrome:Autosomal Recessive","Smith-Lemli-Opitz syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1143~602858~-","DHCR7"]
["DHCR7","Smith-Lemli-Opitz syndrome","Smith-Lemli-Opitz syndrome","Autosomal Recessive","Smith-Lemli-Opitz syndrome:Autosomal Recessive","Smith-Lemli-Opitz syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1143~602858~-","DHCR7"]
["DHDDS","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79947[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~608172~-","DHDDS"]
["DHDPSL","Hyperoxaluria, primary type III","Primary hyperoxaluria, type III","Autosomal Recessive","Primary hyperoxaluria, type III:Autosomal Recessive$Primary hyperoxaluria:Autosomal Recessive","Primary hyperoxaluria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112817[geneid]~-~613597~-","HOGA1"]
["DHFR","Increased expression","Methotrexate;Drug Response","Pharmacogenetic","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","Megaloblastic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=200895[geneid]~-~-~17686970","DHFRL1"]
["DHFR","Megaloblastic anaemia & cerebral folate deficiency","Megaloblastic anemia due to folate deficiency","Autosomal Recessive ","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","Megaloblastic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=200895[geneid]~-~-~-","DHFRL1"]
["DHFR","Megaloblastic anaemia and/or pancytopenia","Megaloblastic anemia due to folate deficiency;Pancytopenia","Autosomal Recessive ","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency:Autosomal Recessive$Megaloblastic anemia:Autosomal Recessive","Megaloblastic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=200895[geneid]~-~-~-","DHFRL1"]
["DHH","Gonadal dysgenesis, complete","Pure gonadal dysgenesis 46,XY","Autosomal Recessive","46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy:Autosomal Recessive$Sex Reversal, Gonadal, 46, XY:Autosomal Recessive","46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy:Autosomal Recessive$Sex Reversal, Gonadal, 46, XY:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547~605423~-","DHH"]
["DHH","Gonadal dysgenesis, partial","46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy","Autosomal Recessive","46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy:Autosomal Recessive$Sex Reversal, Gonadal, 46, XY:Autosomal Recessive","46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy:Autosomal Recessive$Sex Reversal, Gonadal, 46, XY:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547~605423~-","DHH"]
["DHODH","Miller syndrome","Miller syndrome","Autosomal Recessive","Miller syndrome:Autosomal Recessive","Miller syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1723[geneid]~-~126064~-","DHODH"]
["DHTKD1","2-aminoadipic & 2-oxoadipic aciduria","2-aminoadipic 2-oxoadipic aciduria","Autosomal Recessive","2-aminoadipic 2-oxoadipic aciduria:Autosomal Recessive$Charcot-Marie-Tooth disease, type II:Autosomal Dominant","2-aminoadipic 2-oxoadipic aciduria:Autosomal Recessive$Charcot-Marie-Tooth disease, type II:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55526[geneid]~-~614984~-","DHTKD1"]
["DHTKD1","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, type II","Autosomal Dominant","2-aminoadipic 2-oxoadipic aciduria:Autosomal Recessive$Charcot-Marie-Tooth disease, type II:Autosomal Dominant","2-aminoadipic 2-oxoadipic aciduria:Autosomal Recessive$Charcot-Marie-Tooth disease, type II:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55526[geneid]~-~614984~-","DHTKD1"]
["DIABLO","Progressive hearing loss","Deafness","Autosomal Recessive","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56616[geneid]~-~605219~-","DIABLO"]
["DIAPH1","Deafness, non-syndromic, Autosomal Dominant 1","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 1:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1729[geneid]~-~602121~-","DIAPH1"]
["DIAPH1","Hearing loss","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 1:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1729[geneid]~-~602121~-","DIAPH1"]
["DIAPH3","Auditory neuropathy","Auditory neuropathy spectrum disorder","Autosomal Dominant","Auditory Neuropathy, Autosomal Dominant, 1:Autosomal Dominant$Auditory neuropathy spectrum disorder:Autosomal Dominant","Auditory neuropathy spectrum disorder:Autosomal Dominant","HIGH","-~-~614567~-","DIAPH3"]
["DIAPH3","Auditory neuropathy spectrum disorder","Auditory neuropathy spectrum disorder","Autosomal Dominant","Auditory Neuropathy, Autosomal Dominant, 1:Autosomal Dominant$Auditory neuropathy spectrum disorder:Autosomal Dominant","Auditory neuropathy spectrum disorder:Autosomal Dominant","HIGH","-~-~614567~-","DIAPH3"]
["DIAPH3","Autism","Autistic Disorder","Autosomal Recessive","Auditory Neuropathy, Autosomal Dominant, 1:Autosomal Dominant$Auditory neuropathy spectrum disorder:Autosomal Dominant","Auditory neuropathy spectrum disorder:Autosomal Dominant","HIGH","-~-~614567~-","DIAPH3"]
["DICER1","Autism","Autistic Disorder","Risk","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Blastoma, pleuropulmonary","Pleuropulmonary blastoma","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Cystic nephroma","Cystic nephroma","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Goitre, multinodular","Multinodular goiter","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Medulloblastoma","Medulloblastoma","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Multinodular goiter","Multinodular goiter","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Ovarian Sertoli-Leydig tumour","Sertoli-Leydig cell tumor of ovary","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Pineoblastoma","Pineoblastoma","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DICER1","Wilms tumour","Nephroblastoma","Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Rhabdomyosarcoma, embryonal, 2:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","Euthyroid Goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["DIO1","Higher plasma rT3","Thyroxine levels","Modifier",null,null,"HIGH","-~-~147892~12788902","DIO1"]
["DIO1","Lower plasma rT3/T4 ratio","Thyroxine levels","Modifier",null,null,"HIGH","-~-~147892~12788902","DIO1"]
["DIO2","Reduced serum thyroxine","Thyroxine levels","Modifier",null,null,"HIGH","-~-~601413~15727947","DIO2"]
["DIP2A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607711~-","DIP2A"]
["DIP2C","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611380~22542183","DIP2C"]
["DIS3L2","Perlman syndrome","Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor","Autosomal Recessive","Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor:Autosomal Recessive$Perlman syndrome:Autosomal Recessive","Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor:Autosomal Recessive$Perlman syndrome:Autosomal Recessive","HIGH","-~-~614184~-","DIS3L2"]
["DISC1","Agenesis of corpus callosum","NULL","Need full text PMID 21739582","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27185[geneid]~-~605210~-","DISC1"]
["DISC1","Autism","Autistic Disorder","Risk","Schizophrenia:Risk","Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27185[geneid]~-~605210~-","DISC1"]
["DISC1","Bipolar spectrum disorder","Bipolar disorder","Risk","Schizophrenia:Risk","Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27185[geneid]~-~605210~-","DISC1"]
["DISC1","Schizophrenia","Schizophrenia","Risk","Schizophrenia:Risk","Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27185[geneid]~-~605210~-","DISC1"]
["DISC1","Wnt signaling defect","Schizophrenia","Risk","Schizophrenia:Risk","Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27185[geneid]~-~605210~-","DISC1"]
["DISP1","Craniofacial and neuro-developmental abnormalities","Holoprosencephaly sequence","Autosomal Recessive",null,null,"HIGH","-~-~607502~-","DISP1"]
["DISP1","Diaphragmatic hernia, congenital","Congenital diaphragmatic hernia","Autosomal Dominant",null,null,"HIGH","-~-~607502~-","DISP1"]
["DKC1","Dyskeratosis congenita","Dyskeratosis congenita","X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~300126~-","DKC1"]
["DKC1","Dyskeratosis congenita with Hoyeraal-Hreidarsson syndrome","Dyskeratosis congenita;Hoyeraal Hreidarsson syndrome","X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~300126~-","DKC1"]
["DKC1","Dyskeratosis congenita, X-linked","Dyskeratosis congenita","X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~300126~-","DKC1"]
["DKC1","Hoyeraal-Hreidarsson syndrome","Hoyeraal Hreidarsson syndrome","X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","Dyskeratosis congenita:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~300126~-","DKC1"]
["DKFZp761I1011","Autism spectrum disorder","NULL","PMID 15925480 mentions language delay, not Autism","NULL","NULL","HIGH","-~-~609556~-","ATP13A4"]
["DKFZp761I1011","Autism spectrum disorder","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~609556~-","DKFZp761I1011"]
["DLAT","Pyruvate dehydrogenase deficiency","Pyruvate dehydrogenase complex deficiency","Autosomal Recessive","Pyruvate Dehydrogenase E2 Deficiency:Autosomal Recessive$Pyruvate dehydrogenase complex deficiency:Autosomal Recessive","Pyruvate Dehydrogenase E2 Deficiency:Autosomal Recessive$Pyruvate dehydrogenase complex deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1737[geneid]~-~608770~-","DLAT"]
["DLD","Dihydrolipoamide dehydrogenase deficiency","Dihydrolipoamide dehydrogenase deficiency","Autosomal Recessive","Dihydrolipoamide dehydrogenase deficiency:Autosomal Recessive","Dihydrolipoamide dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1738[geneid]~-~238331~-","DLD"]
["DLD","Dihydrolipoyl dehydrogenase deficiency","Dihydrolipoamide dehydrogenase deficiency","Autosomal Recessive","Dihydrolipoamide dehydrogenase deficiency:Autosomal Recessive","Dihydrolipoamide dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1738[geneid]~-~238331~-","DLD"]
["DLG3","Mental retardation","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1741[geneid]~-~300189~-","DLG3"]
["DLGAP3","Obsessive-compulsive disorder","Obsessive-compulsive disorder","Risk",null,null,"HIGH","-~-~611413~-","DLGAP3"]
["DLGAP3","Trichotillomania","Trichotillomania","Risk",null,null,"HIGH","-~-~611413~-","DLGAP3"]
["DLL1","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~606582~-","DLL1"]
["DLL1","Holoprosencephaly, susceptibility to","Holoprosencephaly sequence","Risk",null,null,"HIGH","-~-~606582~-","DLL1"]
["DLL3","Congenital scoliosis","Congenital postural scoliosis","Risk","Jarcho-Levin syndrome:Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK8828~602768~-","DLL3"]
["DLL3","Spondylocostal dysostosis","Jarcho-Levin syndrome","Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK8828~602768~-","DLL3"]
["DLL3","Vertebral malformation","Congenital postural scoliosis","Risk","Jarcho-Levin syndrome:Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK8828~602768~-","DLL3"]
["DLX3","Amelogenesis imperfecta with taurodontism","Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism","Autosomal Dominant","Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism:Autosomal Dominant$Tricho-dento-osseous syndrome:Autosomal Dominant","Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism:Autosomal Dominant$Tricho-dento-osseous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1747[geneid]~-~600525~-","DLX3"]
["DLX3","Trichodentoosseous syndrome","Tricho-dento-osseous syndrome","Autosomal Dominant","Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism:Autosomal Dominant$Tricho-dento-osseous syndrome:Autosomal Dominant","Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism:Autosomal Dominant$Tricho-dento-osseous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1747[geneid]~-~600525~-","DLX3"]
["DLX5","Split hand/foot malformation","Split-Hand/Foot Malformation With Sensorineural Hearing Loss","Autosomal Recessive","Split-Hand/Foot Malformation With Sensorineural Hearing Loss:Autosomal Recessive","Split-Hand/Foot Malformation With Sensorineural Hearing Loss:Autosomal Recessive","HIGH","-~-~600028~-","DLX5"]
["DLX6","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600030~-","DLX6"]
["DMC1","Premature ovarian failure","Premature ovarian failure","Autosomal Dominant",null,null,"HIGH","-~-~602721~-","DMC1"]
["DMD","Autism spectrum disorder","Autistic Disorder","Risk","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Cardiomyopathy, dilated","Dilated cardiomyopathy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Dystrophinopathy","Becker muscular dystrophy;Duchenne muscular dystrophy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Elevated creatine kinase level","Increased creatine kinase level","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Exertional myalgia, muscle stiffness & myoglobinuria","Exercise-induced myalgia;Muscle rigidity;Myoglobinuria","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Increased serum creatine kinase levels","Increased creatine kinase level","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Mental retardation, X-linked","Mental retardation","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Muscular dystrophy","Muscular dystrophy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Muscular dystrophy, Becker","Becker muscular dystrophy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Muscular dystrophy, Becker with cognitive impairment","Becker muscular dystrophy;Impaired cognition","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Muscular dystrophy, Duchenne","Duchenne muscular dystrophy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Muscular dystrophy, Duchenne/Becker","Becker muscular dystrophy;Duchenne muscular dystrophy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Muscular dystrophy, intermediate","Intermediate X-linked muscular dystrophy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMD","Myopathy","Myopathy","X-linked Dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","Becker muscular dystrophy:X-linked dominant$Dilated cardiomyopathy:X-linked dominant$Duchenne muscular dystrophy:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1756[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1119~300377~-","DMD"]
["DMGDH","Dimethylglycine dehydrogenase deficiency","Dimethylglycine Dehydrogenase Deficiency","Autosomal Recessive","Dimethylglycine Dehydrogenase Deficiency:Autosomal Recessive","Dimethylglycine Dehydrogenase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29958[geneid]~-~605849~-","DMGDH"]
["DMP1","Hypophosphataemia","Hypophosphatemia","Autosomal Recessive","Phosphopenic type rickets:Autosomal Recessive","Phosphopenic type rickets:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1758[geneid]~-~600980~-","DMP1"]
["DMP1","Rickets, hypophosphataemic","Phosphopenic type rickets","Autosomal Recessive","Phosphopenic type rickets:Autosomal Recessive","Phosphopenic type rickets:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1758[geneid]~-~600980~-","DMP1"]
["DMP1","Rickets, hypophosphataemic, Autosomal Recessive","Autosomal Recessive hypophosphatemic bone disease","Autosomal Recessive","Phosphopenic type rickets:Autosomal Recessive","Phosphopenic type rickets:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1758[geneid]~-~600980~-","DMP1"]
["DMRT1","XY sex reversal","Pure gonadal dysgenesis","Autosomal Dominant",null,null,"HIGH","-~-~602424~-","DMRT1"]
["DMXL1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605671~-","DMXL1"]
["DNA2","Mitochondrial DNA instability","Depletion of mitochondrial DNA","Autosomal Dominant","Progressive external ophthalmoplegia:Autosomal Dominant$Depletion of mitochondrial DNA:Autosomal Dominant","Progressive external ophthalmoplegia:Autosomal Dominant$Depletion of mitochondrial DNA:Autosomal Dominant","HIGH","-~-~601810~-","DNA2"]
["DNAAF1","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 13:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123872[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~613190~-","DNAAF1"]
["DNAAF1","Seminoma","Seminoma","Autosomal Dominant","Ciliary Dyskinesia, Primary, 13:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123872[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~613190~-","DNAAF1"]
["DNAAF3","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Primary ciliary dyskinesia, 2:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1122~614566~-","DNAAF3"]
["DNAH5","Asthenozoospermia","Asthenozoospermia","Autosomal Dominant","Immotile cilia syndrome:Autosomal Recessive$Primary ciliary dyskinesia, 3:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~603335~-","DNAH5"]
["DNAH5","Autism","Autistic Disorder","Risk","Immotile cilia syndrome:Autosomal Recessive$Primary ciliary dyskinesia, 3:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~603335~-","DNAH5"]
["DNAH5","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Primary ciliary dyskinesia, 3:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~603335~-","DNAH5"]
["DNAH7","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610061~-","DNAH7"]
["DNAH9","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603330~-","DNAH9"]
["DNAI1","Asthenozoospermia","Asthenozoospermia","Autosomal Dominant","Immotile cilia syndrome:Autosomal Recessive$Kartagener syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Kartagener syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27019[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~604366~-","DNAI1"]
["DNAI1","Ciliary dyskinesia, primary","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Kartagener syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Kartagener syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27019[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~604366~-","DNAI1"]
["DNAI1","Kartagener syndrome","Kartagener syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Kartagener syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Kartagener syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27019[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~604366~-","DNAI1"]
["DNAI2","Ciliary dyskinesia, primary","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive$Ciliary Dyskinesia, Primary, 9:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64446[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~605483~-","DNAI2"]
["DNAJB2","Neuropathy, distal hereditary motor","Distal spinal muscular atrophy","Autosomal Recessive","Distal spinal muscular atrophy:Autosomal Recessive","Distal spinal muscular atrophy:Autosomal Recessive","HIGH","-~-~604139~-","DNAJB2"]
["DNAJB6","Muscular dystrophy, limb girdle 1D","Muscular Dystrophy, Limb-Girdle, Type 1D","Autosomal Dominant","Muscular Dystrophy, Limb-Girdle, Type 1E:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~611332~-","DNAJB6"]
["DNAJB6","Myopathy","Disorder of skeletal AND/OR smooth muscle","Autosomal Dominant","Muscular Dystrophy, Limb-Girdle, Type 1E:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10049[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~611332~-","DNAJB6"]
["DNAJC19","Dilated cardiomyopathy with ataxia syndrome","3-Methylglutaconic Aciduria, Type V","Autosomal Recessive","3-Methylglutaconic Aciduria, Type V:Autosomal Recessive","3-Methylglutaconic Aciduria, Type V:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=131118[geneid]~-~608977~-","DNAJC19"]
["DNAJC5","Neuronal ceroid lipofuscinosis, adult-onset","Adult neuronal ceroid lipofuscinosis","Autosomal Dominant","Adult neuronal ceroid lipofuscinosis:Autosomal Dominant","Adult neuronal ceroid lipofuscinosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1428~611203~-","DNAJC5"]
["DNAJC6","Parkinsonism, juvenile","Juvenile Parkinson's disease","Autosomal Recessive","Juvenile Parkinson's disease:Autosomal Recessive","Juvenile Parkinson's disease:Autosomal Recessive","HIGH","-~-~608375~-","DNAJC6"]
["DNAL1","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1122~610062~-","DNAL1"]
["DNASE1","Autoimmune thyroid disease","Autoimmune thyroid disease","Risk","Systemic lupus erythematosus:Risk","Systemic lupus erythematosus:Risk","HIGH","-~-~125505~-","DNASE1"]
["DNASE1","Systemic lupus erythematosus","Systemic lupus erythematosus","Risk","Systemic lupus erythematosus:Risk","Systemic lupus erythematosus:Risk","HIGH","-~-~125505~-","DNASE1"]
["DNASE1L3","Hypocomplementemic urticarial vasculitis syndrome","Hypocomplementemic urticarial vasculitis","Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive","HIGH","-~-~602244~-","DNASE1L3"]
["DNASE1L3","Systemic lupus erythematosus","Systemic lupus erythematosus","Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive","Systemic lupus erythematosus:Autosomal Recessive","HIGH","-~-~602244~-","DNASE1L3"]
["DND1","Testicular germ cell tumour","Neoplasm of testis","Risk",null,null,"HIGH","-~-~609385~-","DND1"]
["DNM1L","Microcephaly, optic atrophy and hypoplasia, lactic acidemia","Microcephalus;Optic atrophy;Hypoplasia;Lactic acidemia","Autosomal Dominant","Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission:Autosomal Dominant","Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10059[geneid]~-~603850~-","DNM1L"]
["DNM2","Akinesia, joint contractures, hypotonia, skeletal abnormalities & brain/retinal haemorrhages","Lethal congenital contracture syndrome 5","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate B:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive$Autosomal Recessive centronuclear myopathy:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45014~602378~-","DNM2"]
["DNM2","Centronuclear myopathy","Myotubular myopathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate B:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive$Autosomal Recessive centronuclear myopathy:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45014~602378~-","DNM2"]
["DNM2","Centronuclear myopathy with cataracts","Myotubular myopathy;Cataract","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate B:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive$Autosomal Recessive centronuclear myopathy:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45014~602378~-","DNM2"]
["DNM2","Centronuclear myopathy, late-onset","Myotubular myopathy","Autosomal Dominant","Charcot-Marie-Tooth disease, axonal, type 2M$Charcot-Marie-Tooth disease, dominant intermediate B$Lethal congenital contracture syndrome 5$Myopathy, centronuclear:Autosomal Dominant$Myopathy, centronuclear","Charcot-Marie-Tooth disease, axonal, type 2M$Charcot-Marie-Tooth disease, dominant intermediate B$Lethal congenital contracture syndrome 5$Myopathy, centronuclear:Autosomal Dominant$Myopathy, centronuclear","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45014~602378~-","DNM2"]
["DNM2","Centronuclear myopathy, neonatal-onset","Myotubular myopathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate B:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive$Autosomal Recessive centronuclear myopathy:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45014~602378~-","DNM2"]
["DNM2","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate B:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive$Autosomal Recessive centronuclear myopathy:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45014~602378~-","DNM2"]
["DNM2","Lethal congenital contracture syndrome","NULL","Autosomal Recessive (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45014~602378~-","DNM2"]
["DNMT1","Cerebellar ataxia, deafness & narcolepsy","Cerebellar Ataxia, Deafness, and Narcolepsy","Autosomal Dominant","Cerebellar Ataxia, Deafness, and Narcolepsy:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Dominant","Cerebellar Ataxia, Deafness, and Narcolepsy:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK84112~126375~-","DNMT1"]
["DNMT1","Sensory neuropathy with dementia & hearing loss","Hereditary sensory neuropathy","Autosomal Dominant","Cerebellar Ataxia, Deafness, and Narcolepsy:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Dominant","Cerebellar Ataxia, Deafness, and Narcolepsy:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK84112~126375~-","DNMT1"]
["DNMT3A","Acute myeloid leukemia, disease","Acute myeloid leukemia, disease","Risk","Acute myeloid leukemia, disease:Risk","Acute myeloid leukemia, disease:Risk","HIGH","-~-~602769~-","DNMT3A"]
["DNMT3A","Autism","Autistic Disorder","Risk","Acute myeloid leukemia, disease:Risk","Acute myeloid leukemia, disease:Risk","HIGH","-~-~602769~-","DNMT3A"]
["DNMT3A","Myelodysplastic syndrome","Myelodysplastic syndrome","Risk","Acute myeloid leukemia, disease:Risk","Acute myeloid leukemia, disease:Risk","HIGH","-~-~602769~-","DNMT3A"]
["DNMT3B","Immunodeficiency, centromeric instability and facial anomalies syndrome","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency","Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","HIGH","-~-~602900~-","DNMT3B"]
["DNMT3L","Altered hypomethylation of subtelomeric loci","DNA Methylation","Modifier",null,null,"HIGH","-~-~606588~-","DNMT3L"]
["DOC2A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604567~-","DOC2A"]
["DOCK6","Adams-Oliver syndrome","Adams-Oliver syndrome","Autosomal Recessive","Adams-Oliver syndrome:Autosomal Recessive","Adams-Oliver syndrome:Autosomal Recessive","HIGH","-~-~614194~-","DOCK6"]
["DOCK8","Hyper-IgE syndrome, Autosomal Recessive","Hyper-Immunoglobulin E Syndrome, Autosomal Recessive","Autosomal Recessive","Hyper-Immunoglobulin E Syndrome, Autosomal Recessive:Autosomal Recessive$Mental retardation:Autosomal Dominant","Hyper-Immunoglobulin E Syndrome, Autosomal Recessive:Autosomal Recessive$Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81704[geneid]~-~611432~-","DOCK8"]
["DOCK8","Immunodeficiency, combined","Combined immunodeficiency disease","Autosomal Recessive","Hyper-Immunoglobulin E Syndrome, Autosomal Recessive:Autosomal Recessive$Mental retardation:Autosomal Dominant","Hyper-Immunoglobulin E Syndrome, Autosomal Recessive:Autosomal Recessive$Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81704[geneid]~-~611432~-","DOCK8"]
["DOCK8","Mental Retardation","NULL","Autosomal Dominant (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81704[geneid]~-~611432~-","DOCK8"]
["DOCK9","Keratoconus","Keratoconus","Autosomal Dominant","Keratoconus:Autosomal Dominant","Keratoconus:Autosomal Dominant","HIGH","-~-~607325~-","DOCK9"]
["DOK7","Congenital myasthenic syndromes","Congenital myasthenic syndrome Ib","Autosomal Recessive","Fetal akinesia deformation sequence:Autosomal Recessive$Pseudomyopathic myasthenia:Autosomal Recessive","Fetal akinesia deformation sequence:Autosomal Recessive$Pseudomyopathic myasthenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=285489[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~610285~-","DOK7"]
["DOK7","Limb girdle myasthenic syndrome","Pseudomyopathic myasthenia","Autosomal Recessive","Fetal akinesia deformation sequence:Autosomal Recessive$Pseudomyopathic myasthenia:Autosomal Recessive","Fetal akinesia deformation sequence:Autosomal Recessive$Pseudomyopathic myasthenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=285489[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~610285~-","DOK7"]
["DOLK","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Recessive","Congenital Disorder Of Glycosylation, Type Im:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~610746~-","DOLK"]
["DOLK","Dolichol kinase deficiency","Congenital Disorder Of Glycosylation, Type Im","Autosomal Recessive","Congenital Disorder Of Glycosylation, Type Im:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~610746~-","DOLK"]
["DOM3Z","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605996~-","DOM3Z"]
["DPAGT1","Congenital disorder of glycosylation","Congenital disorder of glycosylation type 1J","Autosomal Recessive","Congenital disorder of glycosylation type 1J:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive$Myasthenic Syndromes, Congenital:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive$Myasthenic Syndromes, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~191350~-","DPAGT1"]
["DPAGT1","Congenital disorder of glycosylation 1j","Congenital disorder of glycosylation type 1J","Autosomal Recessive","Congenital disorder of glycosylation type 1J:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive$Myasthenic Syndromes, Congenital:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive$Myasthenic Syndromes, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~191350~-","DPAGT1"]
["DPAGT1","Limb-girdle congenital myasthenic syndrome with tubular aggregates","Myasthenic Syndromes, Congenital","Autosomal Recessive","Congenital disorder of glycosylation type 1J:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive$Myasthenic Syndromes, Congenital:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive$Myasthenic Syndromes, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~191350~-","DPAGT1"]
["DPM1","Congenital disorder of glycosylation 1e","Congenital disorder of glycosylation type 1E","Autosomal Recessive","Congenital disorder of glycosylation type 1E:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~603503~-","DPM1"]
["DPM2","Congenital disorder of glycosylation","Congenital disorder of glycosylation, type IU","Autosomal Recessive","Congenital disorder of glycosylation, type IU:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~603564~-","DPM2"]
["DPM3","Alpha-dystroglycanopathy","Congenital Disorder of Glycosylation, Type Io","Autosomal Recessive","Congenital Disorder of Glycosylation, Type Io:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54344[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~605951~-","DPM3"]
["DPP3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606818~-","DPP3"]
["DPP4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~102720~-","DPP4"]
["DPY19L2","Globozoospermia","Globozoospermia","Autosomal Recessive","Globozoospermia:Autosomal Recessive","Globozoospermia:Autosomal Recessive","HIGH","-~-~613893~-","DPY19L2"]
["DPYD","Dihydropyrimidine dehydrogenase deficiency","Dihydrouracil dehydrogenase (NADP+) deficiency","Autosomal Recessive","Fluorouracil adverse reaction:Autosomal Recessive$Fluorouracil poisoning:Autosomal Recessive$Dihydrouracil dehydrogenase (NADP+) deficiency:Autosomal Recessive","Fluorouracil adverse reaction:Autosomal Recessive$Fluorouracil poisoning:Autosomal Recessive$Dihydrouracil dehydrogenase (NADP+) deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1806[geneid]~-~612779~-","DPYD"]
["DPYD","Dihydropyrimidine dehydrogenase deficiency, partial","Fluorouracil adverse reaction","Autosomal Dominant","Fluorouracil adverse reaction:Autosomal Recessive$Fluorouracil poisoning:Autosomal Recessive$Dihydrouracil dehydrogenase (NADP+) deficiency:Autosomal Recessive","Fluorouracil adverse reaction:Autosomal Recessive$Fluorouracil poisoning:Autosomal Recessive$Dihydrouracil dehydrogenase (NADP+) deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1806[geneid]~-~612779~-","DPYD"]
["DPYD","Schizophrenia","Schizophrenia","Autosomal Dominant","Fluorouracil adverse reaction:Autosomal Recessive$Fluorouracil poisoning:Autosomal Recessive$Dihydrouracil dehydrogenase (NADP+) deficiency:Autosomal Recessive","Fluorouracil adverse reaction:Autosomal Recessive$Fluorouracil poisoning:Autosomal Recessive$Dihydrouracil dehydrogenase (NADP+) deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1806[geneid]~-~612779~-","DPYD"]
["DPYS","Dihydropyramidinase deficiency","Dihydropyrimidinuria","Autosomal Recessive","Dihydropyrimidinuria:Autosomal Recessive","Dihydropyrimidinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1807[geneid]~-~613326~-","DPYS"]
["DRD1","Reduced basal signalling","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~126449~-","DRD1"]
["DRD2","Impaired inhibition of intracellular cAMP","Drug Response","Pharmacogenetic","Myoclonic dystonia:Autosomal Dominant","Myoclonic dystonia:Autosomal Dominant","HIGH","-~-~126450~-","DRD2"]
["DRD2","Myoclonus dystonia","Myoclonic dystonia","Autosomal Dominant","Myoclonic dystonia:Autosomal Dominant","Myoclonic dystonia:Autosomal Dominant","HIGH","-~-~126450~-","DRD2"]
["DRD4","Autonomic nervous system dysfunction","Dysfunction of the autonomic nervous system","Autosomal Recessive","Dysfunction of the autonomic nervous system:Autosomal Recessive","Dysfunction of the autonomic nervous system:Autosomal Recessive","HIGH","-~-~126452~-","DRD4"]
["DRD5","Blepharospasm","NULL","Autosomal Dominant (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","-~-~126453~-","DRD5"]
["DRD5","Receptor deficiency","NULL","No disease associations mentioned","NULL","NULL","HIGH","-~-~126453~-","DRD5"]
["DRD5","Receptor variant","NULL","No disease associations mentioned","NULL","NULL","HIGH","-~-~126453~-","DRD5"]
["DRP2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300052~-","DRP2"]
["DSC2","Arrhythmogenic right ventricular cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1824[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125645~-","DSC2"]
["DSC2","Arrhythmogenic right ventricular dysplasia/cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1824[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125645~-","DSC2"]
["DSC2","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1824[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125645~-","DSC2"]
["DSC3","Hypotrichosis & recurrent skin vesicles","Hypotrichosis And Recurrent Skin Vesicles","Autosomal Recessive","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1824[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125645~-","DSC2"]
["DSG1","Focal palmoplantar keratoderma","Palmoplantar Keratoderma, Nonepidermolytic, Focal","Autosomal Dominant","Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE:Autosomal Recessive$Keratosis palmoplantaris striata 1:Autosomal Dominant","Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE:Autosomal Recessive","HIGH","-~-~125670~-","DSG1"]
["DSG1","Striate palmoplantar keratoderma","Keratosis palmoplantaris striata 1","Autosomal Dominant","Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE:Autosomal Recessive$Keratosis palmoplantaris striata 1:Autosomal Dominant","Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE:Autosomal Recessive","HIGH","-~-~125670~-","DSG1"]
["DSG2","Arrhythmogenic right ventricular cardiomyopathy","Cardiomyopathy, arrhythmogenic right ventricular","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy, Dilated, 1BB:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1829[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1309~125671~-","DSG2"]
["DSG2","Arrhythmogenic right ventricular dysplasia/cardiomyopathy","Cardiomyopathy, arrhythmogenic right ventricular and dysplasia","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy, Dilated, 1BB:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1829[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1309~125671~-","DSG2"]
["DSG2","Cardiomyopathy, arrhythmogenic right ventricular","Cardiomyopathy, arrhythmogenic right ventricular","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy, Dilated, 1BB:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1829[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1309~125671~-","DSG2"]
["DSG2","Cardiomyopathy, dilated","Cardiomyopathy, dilated","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy, Dilated, 1BB:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1829[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1309~125671~-","DSG2"]
["DSG2","Dysplasia, arrhythmogenic right ventricular","Cardiomyopathy, arrhythmogenic right ventricular and dysplasia","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy, Dilated, 1BB:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1829[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1309~125671~-","DSG2"]
["DSG4","Colorectal cancer","Colorectal cancer","Risk","Hypotrichosis, Localized, Autosomal Recessive:Autosomal Recessive$Hypotrichosis:Autosomal Recessive","Hypotrichosis:Autosomal Recessive","HIGH","-~-~607892~-","DSG4"]
["DSG4","Hypotrichosis","Hypotrichosis","Autosomal Recessive","Hypotrichosis, Localized, Autosomal Recessive:Autosomal Recessive$Hypotrichosis:Autosomal Recessive","Hypotrichosis:Autosomal Recessive","HIGH","-~-~607892~-","DSG4"]
["DSG4","Monilethrix","Beaded hair","Autosomal Recessive","Hypotrichosis, Localized, Autosomal Recessive:Autosomal Recessive$Hypotrichosis:Autosomal Recessive","Hypotrichosis:Autosomal Recessive","HIGH","-~-~607892~-","DSG4"]
["DSP","Arrhythmogenic right ventricular dysplasia/cardiomyopathy","Arrhythmogenic right ventricular dysplasia","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Cardiomyopathy, arrhythmogenic left ventricular","Arrhythmogenic right ventricular dysplasia, Left sided","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Cardiomyopathy, arrhythmogenic right ventricular","Arrhythmogenic right ventricular dysplasia","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Cardiomyopathy, arrhythmogenic, left-dominant","Arrhythmogenic right ventricular dysplasia, Left sided","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Carvajal syndrome","Cardiomyopathy dilated with Woolly hair and keratoderma","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Carvajal/Naxos syndrome","Cardiomyopathy dilated with Woolly hair and keratoderma","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Carvajal/Naxos syndrome with leukonychia and oligodontia","Cardiomyopathy dilated with Woolly hair and keratoderma;Leukonychia;Partial congenital absence of teeth","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Dilated cardiomyopathy, woolly hair, keratoderma","Cardiomyopathy dilated with Woolly hair and keratoderma","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Dysplasia, arrhythmogenic right ventricular","Arrhythmogenic right ventricular dysplasia","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Ectodermal dysplasia/skin fragility syndrome","Ectodermal dysplasia/ skin fragility syndrome","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Epidermolysis bullosa, lethal acantholytic","Epidermolysis bullosa, lethal acantholytic","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Epidermolytic bullous dermatosis with cardiomyopathy","Epidermolysis Bullosa;Cardiomyopathy","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Naxos-Carvajal syndrome","Cardiomyopathy dilated with Woolly hair and keratoderma","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Skin fragility and woolly hair","Skin Fragility-Woolly Hair Syndrome","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Striate palmoplantar keratoderma","Keratosis palmoplantaris striata 1","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSP","Woolly hair/ PPK/cardiomyopathy/mucocutaneous blistering","Skin Fragility-Woolly Hair Syndrome;Cardiomyopathy","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Cardiomyopathy dilated with Woolly hair and keratoderma:Autosomal Recessive$Epidermolysis bullosa, lethal acantholytic:Autosomal Recessive$Keratosis Palmoplantaris Striata II:Autosomal Dominant$Skin Fragility-Woolly Hair Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1832[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~125647~-","DSP"]
["DSPP","Dental disorder, non-syndromic","Tooth disorder","Autosomal Dominant","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentin dysplasia, type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type III:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1834[geneid]~-~125485~-","DSPP"]
["DSPP","Dentin dysplasia type II","Dentin dysplasia, type II","Autosomal Dominant","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentin dysplasia, type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type III:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1834[geneid]~-~125485~-","DSPP"]
["DSPP","Dentinogenesis imperfecta Shields type II","Dentinogenesis imperfecta - Shield's type II","Autosomal Dominant","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentin dysplasia, type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type III:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1834[geneid]~-~125485~-","DSPP"]
["DSPP","Dentinogenesis imperfecta type I","Dentinogenesis imperfecta - Shield's type I","Autosomal Dominant","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentin dysplasia, type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type III:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1834[geneid]~-~125485~-","DSPP"]
["DSPP","Dentinogenesis imperfecta type II","Dentinogenesis imperfecta - Shield's type II","Autosomal Dominant","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentin dysplasia, type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type II:Autosomal Dominant$Dentinogenesis imperfecta - Shield's type III:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","Deafness:Autosomal Dominant$Dentin dysplasia:Autosomal Dominant$Dentinogenesis imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1834[geneid]~-~125485~-","DSPP"]
["DST","Epidermolysis bullosa simplex","Epidermolysis bullosa simplex","Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Hereditary sensory and autonomic neuropathy:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Hereditary sensory and autonomic neuropathy:Autosomal Recessive","HIGH","-~-~113810~-","DST"]
["DST","Epidermolysis bullosa simplex, Autosomal Recessive","Epidermolysis bullosa simplex","Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Hereditary sensory and autonomic neuropathy:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Hereditary sensory and autonomic neuropathy:Autosomal Recessive","HIGH","-~-~113810~-","DST"]
["DST","Hereditary sensory and autonomic neuropathy type II ","NULL","Autosomal Recessive (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","-~-~113810~-","DST"]
["DTNA","Left ventricular noncompaction with CHD","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1837[geneid]~-~601239~-","DTNA"]
["DTNBP1","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84062[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1287~607145~-","DTNBP1"]
["DUOX2","Goitre","Goiter","Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50506[geneid]~-~606759~-","DUOX2"]
["DUOX2","Hypothyroidism","Congenital hypothyroidism","Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50506[geneid]~-~606759~-","DUOX2"]
["DUOX2","Hypothyroidism, delayed-onset","Hypothyroidism","Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50506[geneid]~-~606759~-","DUOX2"]
["DUOX2","Hypothyroidism, transient","Transient hypothyroidism","Autosomal Dominant","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50506[geneid]~-~606759~-","DUOX2"]
["DUOX2","Iodide organification defect","Hypothyroidism due to iodide organification defect","Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50506[geneid]~-~606759~-","DUOX2"]
["DUOX2","Thyroid dyshormonogenesis","Congenital hypothyroidism","Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","Congenital hypothyroidism:Autosomal Recessive$Thyroid Dyshormonogenesis 6:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50506[geneid]~-~606759~-","DUOX2"]
["DUOXA2","Hypothyroidism","Congenital hypothyroidism","Autosomal Recessive","Thyroglobulin synthesis defect:Autosomal Recessive","Thyroglobulin synthesis defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=405753[geneid]~-~612772~-","DUOXA2"]
["DUSP15","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128853[geneid]~-~-~-","DUSP15"]
["DUSP3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600183~-","DUSP3"]
["DUSP6","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","-~-~602748~-","DUSP6"]
["DUSP6","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","-~-~602748~-","DUSP6"]
["DVL2","Neural tube defects","Neural tube defect","Autosomal Recessive",null,null,"HIGH","-~-~602151~-","DVL2"]
["DVL3","Neural tube defects","Neural tube defect","Autosomal Recessive",null,null,"HIGH","-~-~601368~-","DVL3"]
["DYM","Dyggve-Melchior-Clausen syndrome","Dyggve-Melchior-Clausen syndrome","Autosomal Recessive","Dyggve-Melchior-Clausen syndrome:Autosomal Recessive$Smith-McCort Dysplasia:Autosomal Recessive","Dyggve-Melchior-Clausen syndrome:Autosomal Recessive$Smith-McCort Dysplasia:Autosomal Recessive","HIGH","-~-~607461~-","DYM"]
["DYM","Smith-McCort dysplasia","Smith-McCort Dysplasia","Autosomal Recessive","Dyggve-Melchior-Clausen syndrome:Autosomal Recessive$Smith-McCort Dysplasia:Autosomal Recessive","Dyggve-Melchior-Clausen syndrome:Autosomal Recessive$Smith-McCort Dysplasia:Autosomal Recessive","HIGH","-~-~607461~-","DYM"]
["DYNC1H1","Charcot-Marie-Tooth disease, axonal","Charcot-Marie-Tooth disease, Axonal, Type 2O","Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1778[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~600112~-","DYNC1H1"]
["DYNC1H1","Intellectual disability with neuronal migration defects","Intellectual Disability","Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1778[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~600112~-","DYNC1H1"]
["DYNC1H1","Malformation of cortical development","Cortical Development Malformation","Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1778[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~600112~-","DYNC1H1"]
["DYNC1H1","Mental retardation","Mental retardation","Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1778[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~600112~-","DYNC1H1"]
["DYNC1H1","Spinal muscular atrophy","Spinal muscular atrophy","Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant$Mental retardation:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1778[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~600112~-","DYNC1H1"]
["DYNC2H1","Asphyxiating thoracic dystrophy","Jeune thoracic dystrophy","Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Asphyxiating Thoracic Dystrophy 3:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive$Short rib-polydactyly syndrome, Majewski type:Autosomal Recessive$Type III short rib polydactyly syndrome:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~603297~-","DYNC2H1"]
["DYNC2H1","Short rib-polydactyly syndrome","Short rib polydactyly syndrome","Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Asphyxiating Thoracic Dystrophy 3:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive$Short rib-polydactyly syndrome, Majewski type:Autosomal Recessive$Type III short rib polydactyly syndrome:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~603297~-","DYNC2H1"]
["DYNC2H1","Short rib-polydactyly syndrome, Majewski type","Short rib-polydactyly syndrome, Majewski type","Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Asphyxiating Thoracic Dystrophy 3:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive$Short rib-polydactyly syndrome, Majewski type:Autosomal Recessive$Type III short rib polydactyly syndrome:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~603297~-","DYNC2H1"]
["DYNC2H1","Short rib-polydactyly syndrome, type 3","Type III short rib polydactyly syndrome","Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Asphyxiating Thoracic Dystrophy 3:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive$Short rib-polydactyly syndrome, Majewski type:Autosomal Recessive$Type III short rib polydactyly syndrome:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~603297~-","DYNC2H1"]
["DYRK1A","Autism","Autistic Disorder","Risk","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~600855~-","DYRK1A"]
["DYRK1A","Intellectual disability, microcephaly & epilepsy","Intellectual Disability;Microcephalos;Epilepsy","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~600855~-","DYRK1A"]
["DYSF","Distal anterior phenotype","Myopathy, Distal, with Anterior Tibial Onset","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Dysferlinopathy","Dysferlinopathy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Dysferlinopathy, proximodistal","Dysferlinopathy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Dysferlinopathy, pseudometabolic","Dysferlinopathy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","HyperCKemia","Creatine kinase level","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Miyoshi myopathy","Miyoshi myopathy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Muscular dystrophy","Muscular dystrophy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Muscular dystrophy, limb girdle / Miyoshi myopathy","Limb-girdle muscular dystrophy/Miyoshi myopathy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["DYSF","Muscular dystrophy, limb girdle 2B","Limb-girdle muscular dystrophy","Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2B:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","Miyoshi myopathy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Distal, with Anterior Tibial Onset:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1303~603009~-","DYSF"]
["EARS2","Failure to thrive, lactic acidosis, mitochondrial myopathy & hepatopathy","Failure to Thrive;Lactic acidosis;Mitochondrial myopathy;Disease of liver","Autosomal Recessive","Combined oxidative phosphorylation deficiency 12:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124454[geneid]~-~612799~-","EARS2"]
["EARS2","Leukoencephalopathy with thalamus & brainstem involvement","Deficiency in enzyme complexes of mitochondrial respiratory chain;Leukoencephalopathy","Autosomal Recessive","Combined oxidative phosphorylation deficiency 12:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124454[geneid]~-~612799~-","EARS2"]
["EBAG9","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605772~-","EBAG9"]
["EBP","CHILD syndrome","NULL","Negated by PMID 11907515","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10682[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK55062~300205~-","EBP"]
["EBP","Chondrodysplasia punctata, X-linked","Chondrodysplasia punctata, X-linked dominant type","X-linked Dominant","Chondrodysplasia punctata, X-linked dominant type:X-linked dominant$Chondrodysplasia Punctata:X-linked dominant","Chondrodysplasia Punctata:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10682[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK55062~300205~-","EBP"]
["EBP","Conradi-Hunermann-Happle syndrome","Chondrodysplasia punctata, X-linked dominant type","X-linked Dominant","Chondrodysplasia punctata, X-linked dominant type:X-linked dominant$Chondrodysplasia Punctata:X-linked dominant","Chondrodysplasia Punctata:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10682[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK55062~300205~-","EBP"]
["EBP","Multiple congenital anomalies, X-linked","Multiple congenital anomalies","X-linked Dominant","Chondrodysplasia punctata, X-linked dominant type:X-linked dominant$Chondrodysplasia Punctata:X-linked dominant","Chondrodysplasia Punctata:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10682[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK55062~300205~-","EBP"]
["ECE1","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:Autosomal Dominant","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1439~600423~-","ECE1"]
["ECEL1","Arthrogryposis, distal","Distal arthrogryposis syndrome","Autosomal Recessive","Distal arthrogryposis syndrome:Autosomal Recessive","Distal arthrogryposis syndrome:Autosomal Recessive","HIGH","-~-~605896~-","ECEL1"]
["ECEL1","Arthrogryposis, distal, type 5D","Distal arthrogryposis syndrome","Autosomal Recessive","Distal arthrogryposis syndrome:Autosomal Recessive","Distal arthrogryposis syndrome:Autosomal Recessive","HIGH","-~-~605896~-","ECEL1"]
["ECM1","Lipoid proteinosis","Lipid proteinosis","Autosomal Recessive","Lipid proteinosis:Autosomal Recessive$Urbach-Wiethe disease:Autosomal Recessive","Lipid proteinosis:Autosomal Recessive$Urbach-Wiethe disease:Autosomal Recessive","HIGH","-~-~602201~-","ECM1"]
["ECM2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603479~-","ECM2"]
["ECSIT","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51295[geneid]~-~608388~-","ECSIT"]
["EDA","Ectodermal dysplasia","Ectodermal dysplasia","X-linked Dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Tooth Agenesis, Selective, X-Linked, 1:X-linked dominant$Hypodontia:X-linked dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Hypodontia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~300451~-","EDA"]
["EDA","Ectodermal dysplasia, hypohidrotic","Hypohidrotic X-linked ectodermal dysplasia","X-linked Dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Tooth Agenesis, Selective, X-Linked, 1:X-linked dominant$Hypodontia:X-linked dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Hypodontia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~300451~-","EDA"]
["EDA","Ectodermal dysplasia, hypohidrotic & inability to sweat","Hypohidrotic X-linked ectodermal dysplasia","X-linked Dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Tooth Agenesis, Selective, X-Linked, 1:X-linked dominant$Hypodontia:X-linked dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Hypodontia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~300451~-","EDA"]
["EDA","Ectodermal dysplasia, X-linked hypohidrotic","Hypohidrotic X-linked ectodermal dysplasia","X-linked Dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Tooth Agenesis, Selective, X-Linked, 1:X-linked dominant$Hypodontia:X-linked dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Hypodontia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~300451~-","EDA"]
["EDA","Hypodontia","Familial hypodontia","X-linked Dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Tooth Agenesis, Selective, X-Linked, 1:X-linked dominant$Hypodontia:X-linked dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Hypodontia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~300451~-","EDA"]
["EDA","Oligodontia","Partial congenital absence of teeth","X-linked Dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Tooth Agenesis, Selective, X-Linked, 1:X-linked dominant$Hypodontia:X-linked dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Hypodontia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~300451~-","EDA"]
["EDA","Tooth agenesis","Tooth Agenesis, Familial","X-linked Dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Tooth Agenesis, Selective, X-Linked, 1:X-linked dominant$Hypodontia:X-linked dominant","Ectodermal dysplasia:X-linked dominant$Hypohidrotic X-linked ectodermal dysplasia:X-linked dominant$Hypodontia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~300451~-","EDA"]
["EDA2R","Hypohidrotic ectodermal dysplasia","NULL","X-linked Dominant/Recessive? PMID 22889853","NULL","NULL","HIGH","-~-~300276~-","EDA2R"]
["EDAR","Ectodermal dysplasia","Ectodermal dysplasia","Autosomal Recessive","Ectodermal Dysplasia 3, Anhidrotic:Autosomal Dominant$Autosomal Recessive hypohidrotic ectodermal dysplasia syndrome:Autosomal Recessive$Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~604095~-","EDAR"]
["EDAR","Ectodermal dysplasia, anhydrotic","Ectodermal dysplasia (anhidrotic)","Autosomal Recessive","Ectodermal Dysplasia 3, Anhidrotic:Autosomal Dominant$Autosomal Recessive hypohidrotic ectodermal dysplasia syndrome:Autosomal Recessive$Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~604095~-","EDAR"]
["EDAR","Ectodermal dysplasia, hypohidrotic","Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive","Autosomal Dominant","Ectodermal Dysplasia 3, Anhidrotic:Autosomal Dominant$Autosomal Recessive hypohidrotic ectodermal dysplasia syndrome:Autosomal Recessive$Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~604095~-","EDAR"]
["EDAR","Ectodermal dysplasia, hypohidrotic","Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive","Autosomal Recessive","Ectodermal Dysplasia 3, Anhidrotic:Autosomal Dominant$Autosomal Recessive hypohidrotic ectodermal dysplasia syndrome:Autosomal Recessive$Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~604095~-","EDAR"]
["EDARADD","Ectodermal dysplasia","Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive","Autosomal Recessive","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~606603~-","EDARADD"]
["EDARADD","Ectodermal dysplasia, hypohidrotic","Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive","Autosomal Dominant","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","Ectodermal dysplasia:Autosomal Dominant$Ectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~606603~-","EDARADD"]
["EDARADD","Oligodontia","NULL","Need full text PMID 21626677","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1112~606603~-","EDARADD"]
["EDN1","Hypertension","Essential hypertension","Autosomal Recessive",null,null,"HIGH","-~-~131240~-","EDN1"]
["EDN2","Altered p53 binding","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~131241~-","EDN2"]
["EDN3","Central hypoventilation syndrome","NULL","Need full text PMID 8696331","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131242~-","EDN3"]
["EDN3","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131242~-","EDN3"]
["EDN3","Shah-Waardenburg syndrome","Waardenburg syndrome, type 4","Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131242~-","EDN3"]
["EDN3","Waardenburg syndrome 4","Waardenburg syndrome, type 4","Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131242~-","EDN3"]
["EDN3","Waardenburg syndrome 4B","Waardenburg syndrome, type 4","Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131242~-","EDN3"]
["EDN3","Waardenburg-Hirschsprung disease","Waardenburg syndrome, type 4","Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","Congenital central hypoventilation:Autosomal Recessive$Waardenburg Syndrome, Type 4B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131242~-","EDN3"]
["EDNRB","ABCD syndrome","ABCD syndrome","Autosomal Recessive","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131244~-","EDNRB"]
["EDNRB","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131244~-","EDNRB"]
["EDNRB","Melanoma","Malignant melanoma","Autosomal Dominant","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131244~-","EDNRB"]
["EDNRB","Shah-Waardenburg syndrome","Waardenburg syndrome, type 4","Autosomal Dominant","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131244~-","EDNRB"]
["EDNRB","Waardenburg-Hirschsprung disease","Waardenburg syndrome, type 4","Autosomal Dominant","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","ABCD syndrome:Autosomal Recessive$Waardenburg syndrome, type 4:Autosomal Dominant$Waardenburg syndrome, type 4:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1439~131244~-","EDNRB"]
["EEA1","Diabetes, type 2, susceptibility to","Diabetes mellitus type 2","Risk",null,null,"HIGH","-~-~605070~-","EEA1"]
["EED","Ulcerative colitis, susceptibility to","Ulcerative colitis","Risk",null,null,"HIGH","-~-~605984~-","EED"]
["EEF1A2","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~602959~-","EEF1A2"]
["EEF2","Spinocerebellar ataxia 26","Spinocerebellar ataxia 26","Autosomal Dominant","Spinocerebellar ataxia 26:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","-~-~130610~-","EEF2"]
["EFCAB13","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","EFCAB13"]
["EFCAB5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374786[geneid]~-~-~-","EFCAB5"]
["EFEMP1","Malattia leventinese","Malattia Leventinese","Autosomal Dominant","Doyne honeycomb retinal dystrophy:Autosomal Dominant","Doyne honeycomb retinal dystrophy:Autosomal Dominant","HIGH","-~-~601548~-","EFEMP1"]
["EFEMP2","Aortic aneurysm","Aortic aneurysm","Autosomal Recessive","Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK54467~604633~-","EFEMP2"]
["EFEMP2","Cutis laxa and arterial tortuosity","Cutis laxa;Arterial tortuosity syndrome","Autosomal Recessive","Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK54467~604633~-","EFEMP2"]
["EFEMP2","Cutis laxa syndrome","Cutis laxa","Autosomal Recessive","Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK54467~604633~-","EFEMP2"]
["EFEMP2","Cutis laxa, arachnodactyly & vascular abnormalities","Cutis laxa;Arachnodactyly;Congenital vascular disorder","Autosomal Recessive","Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK54467~604633~-","EFEMP2"]
["EFHC1","Idiopathic epilepsy, generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Juvenile myoclonic epilepsy:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Juvenile myoclonic epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114327[geneid]~-~608815~-","EFHC1"]
["EFHC1","Myoclonic epilepsy, juvenile","Juvenile myoclonic epilepsy","Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Juvenile myoclonic epilepsy:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Juvenile myoclonic epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114327[geneid]~-~608815~-","EFHC1"]
["EFHC2","Mental retardation, X-linked","NULL","X-linked Dominant/Recessive? PMID 17221867","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80258[geneid]~-~300817~-","EFHC2"]
["EFNB1","Craniofrontonasal syndrome","Craniofrontonasal dysplasia","X-linked Dominant","Craniofrontonasal dysplasia:X-linked dominant","Craniofrontonasal dysplasia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1947[geneid]~-~300035~-","EFNB1"]
["EFR3A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611798~-","EFR3A"]
["EFTUD2","Mandibulofacial dysostosis","Mandibulofacial dysostosis","Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","HIGH","-~-~603892~-","EFTUD2"]
["EFTUD2","Mandibulofacial dysostosis and esophageal atresia","Mandibulofacial dysostosis;Esophageal Atresia","Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","HIGH","-~-~603892~-","EFTUD2"]
["EFTUD2","Mandibulofacial dysostosis with microcephaly","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate","Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","HIGH","-~-~603892~-","EFTUD2"]
["EFTUD2","Microcephaly, Tetralogy of Fallot, heart defect & cleft soft palate","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate","Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate:Autosomal Dominant","HIGH","-~-~603892~-","EFTUD2"]
["EGF","Hypomagnesemia, isolated","Isolated familial renal hypomagnesemia","Autosomal Recessive","Isolated familial renal hypomagnesemia:Autosomal Recessive$Hypomagnesemia 4, Renal:Autosomal Recessive$Primary hypomagnesemia:Autosomal Recessive ","Primary hypomagnesemia:Autosomal Recessive","HIGH","-~-~131530~-","EGF"]
["EGFR","Altered transmembrane signaling","NULL","No disease mentioned (PMID 7937865)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1956[geneid]~-~131550~-","EGFR"]
["EGFR","Lung cancer","NULL","Need full length PMID 18355544","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1956[geneid]~-~131550~-","EGFR"]
["EGFR","Squamous cell carcinoma of head & neck","NULL","Need full length PMID 18528899","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1956[geneid]~-~131550~-","EGFR"]
["EGLN1","Erythrocytosis","Erythrocytosis","Autosomal Dominant","Erythrocytosis, Familial, 3:Autosomal Dominant$Erythrocytosis:Autosomal Dominant","Erythrocytosis:Autosomal Dominant","HIGH","-~-~606425~-","EGLN1"]
["EGLN1","Erythrocytosis and paraganglioma","Erythrocytosis;Paraganglioma","Autosomal Dominant","Erythrocytosis, Familial, 3:Autosomal Dominant$Erythrocytosis:Autosomal Dominant","Erythrocytosis:Autosomal Dominant","HIGH","-~-~606425~-","EGLN1"]
["EGLN1","Erythrocytosis, familial, 3","Erythrocytosis, Familial, 3","Autosomal Dominant","Erythrocytosis, Familial, 3:Autosomal Dominant$Erythrocytosis:Autosomal Dominant","Erythrocytosis:Autosomal Dominant","HIGH","-~-~606425~-","EGLN1"]
["EGLN1","Polycythaemia","Polycythemia vera","Autosomal Dominant","Erythrocytosis, Familial, 3:Autosomal Dominant$Erythrocytosis:Autosomal Dominant","Erythrocytosis:Autosomal Dominant","HIGH","-~-~606425~-","EGLN1"]
["EGLN1","Polycythaemia vera","Polycythemia vera","Autosomal Dominant","Erythrocytosis, Familial, 3:Autosomal Dominant$Erythrocytosis:Autosomal Dominant","Erythrocytosis:Autosomal Dominant","HIGH","-~-~606425~-","EGLN1"]
["EGR2","Charcot-Marie-Tooth disease 1","Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1D:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1205~129010~-","EGR2"]
["EGR2","Charcot-Marie-Tooth disease, demyelinating","Charcot-Marie-Tooth disease, type I","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1D:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1205~129010~-","EGR2"]
["EGR2","Dejerine-Sottas syndrome","D?j?rine-Sottas disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1D:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1205~129010~-","EGR2"]
["EGR2","Neuropathy, congenital hypomyelinating","Congenital hypomyelinating neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1D:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1205~129010~-","EGR2"]
["EGR2","Neuropathy, congenital hypomyelinating","Congenital hypomyelinating neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1D:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Congenital hypomyelinating neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1959[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1205~129010~-","EGR2"]
["EHD2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605890~-","EHD2"]
["EHMT1","9q subtelomeric deletion syndrome","Kleefstra Syndrome","Autosomal Dominant","Kleefstra Syndrome:Autosomal Dominant","Kleefstra Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47079~607001~-","EHMT1"]
["EHMT1","Autism spectrum disorder","Autistic Disorder","Risk","Kleefstra Syndrome:Autosomal Dominant","Kleefstra Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47079~607001~-","EHMT1"]
["EHMT1","Kleefstra syndrome","Kleefstra Syndrome","Autosomal Dominant","Kleefstra Syndrome:Autosomal Dominant","Kleefstra Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47079~607001~-","EHMT1"]
["EHMT1","Mental retardation","Mental retardation","Autosomal Dominant","Kleefstra Syndrome:Autosomal Dominant","Kleefstra Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47079~607001~-","EHMT1"]
["EIF2AK3","Wolcott-Rallison syndrome","Wolcott-Rallison dysplasia","Autosomal Recessive","Wolcott-Rallison dysplasia:Autosomal Recessive$Wolcott-Rallison syndrome:Autosomal Recessive","Wolcott-Rallison syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9451[geneid]~-~604032~-","EIF2AK3"]
["EIF2B1","Leukoencephalopathy with vanishing white matter","Childhood Ataxia with Central Nervous System Hypomyelinization","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1967[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606686~-","EIF2B1"]
["EIF2B2","Leukoencephalopathy with vanishing white matter","Childhood Ataxia with Central Nervous System Hypomyelinization","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606454~-","EIF2B2"]
["EIF2B2","Ovarioleukodystrophy","Vanishing White Matter Leukodystrophy with Ovarian Failure","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606454~-","EIF2B2"]
["EIF2B2","Vanishing white matter disease","Vanishing white matter disease","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606454~-","EIF2B2"]
["EIF2B2","Vanishing white matter disease with adrenoleukodystrophy","Vanishing white matter disease;Adrenoleukodystrophy","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606454~-","EIF2B2"]
["EIF2B3","Leukoencephalopathy with vanishing white matter","Childhood Ataxia with Central Nervous System Hypomyelinization","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8891[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606273~-","EIF2B3"]
["EIF2B3","Vanishing white matter disease","Vanishing white matter disease","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8891[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606273~-","EIF2B3"]
["EIF2B4","Leukoencephalopathy with vanishing white matter","Childhood Ataxia with Central Nervous System Hypomyelinization","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8890[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606687~-","EIF2B4"]
["EIF2B4","Ovarioleukodystrophy","Vanishing White Matter Leukodystrophy with Ovarian Failure","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8890[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606687~-","EIF2B4"]
["EIF2B4","Vanishing white matter disease","Vanishing white matter disease","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8890[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~606687~-","EIF2B4"]
["EIF2B5","Leukoencephalopathy with vanishing white matter","Childhood Ataxia with Central Nervous System Hypomyelinization","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8893[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~603945~-","EIF2B5"]
["EIF2B5","Ovarioleukodystrophy","Vanishing White Matter Leukodystrophy with Ovarian Failure","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8893[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~603945~-","EIF2B5"]
["EIF2B5","Vanishing white matter disease","Vanishing white matter disease","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8893[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~603945~-","EIF2B5"]
["EIF2B5","Vanishing white matter disease & peripheral neuropathy","Vanishing white matter disease;Peripheral nerve disease","Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","Childhood Ataxia with Central Nervous System Hypomyelinization:Autosomal Recessive$Vanishing White Matter Leukodystrophy with Ovarian Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8893[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1258~603945~-","EIF2B5"]
["EIF2C1","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~606228~-","AGO1"]
["EIF2C1","Intellectual disability, nonsyndromic","Intellectual Disability","Risk",null,null,"HIGH","-~-~606228~-","AGO1"]
["EIF2S3","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~300161~-","EIF2S3"]
["EIF2S3","Mental retardation, X-linked","Mental retardation","Risk",null,null,"HIGH","-~-~300161~-","EIF2S3"]
["EIF3C","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~603916~-","EIF3C"]
["EIF4G1","Parkinson disease","Parkinson's disease","Autosomal Dominant","Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~-~600495~-","EIF4G1"]
["ELAC2","Hypertrophic cardiomyopathy and complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Malignant tumor of prostate:Risk","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Malignant tumor of prostate:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60528[geneid]~-~605367~-","ELAC2"]
["ELAC2","Prostate cancer","Malignant tumor of prostate","Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Malignant tumor of prostate:Risk","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Malignant tumor of prostate:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60528[geneid]~-~605367~-","ELAC2"]
["ELANE","Myocardial infarction","NULL","No significant association with MI (PMID 17622939)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1991[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1533~130130~-","ELANE"]
["ELANE","Neutropaenia, congenital","Congenital neutropenia","Autosomal Dominant","Cyclical neutropenia:Autosomal Dominant$Neutropenia, Severe Congenital, Autosomal Dominant 1:Autosomal Dominant$Congenital neutropenia:Autosomal Dominant","Cyclical neutropenia:Autosomal Dominant$Congenital neutropenia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1991[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1533~130130~-","ELANE"]
["ELANE","Neutropaenia, cyclic","Cyclical neutropenia","Autosomal Dominant","Cyclical neutropenia:Autosomal Dominant$Neutropenia, Severe Congenital, Autosomal Dominant 1:Autosomal Dominant$Congenital neutropenia:Autosomal Dominant","Cyclical neutropenia:Autosomal Dominant$Congenital neutropenia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1991[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1533~130130~-","ELANE"]
["ELANE","Phenotype modifier","Congenital neutropenia","Modifier","Cyclical neutropenia:Autosomal Dominant$Neutropenia, Severe Congenital, Autosomal Dominant 1:Autosomal Dominant$Congenital neutropenia:Autosomal Dominant","Cyclical neutropenia:Autosomal Dominant$Congenital neutropenia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1991[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1533~130130~-","ELANE"]
["ELF4","Hypogammaglobulinaemia","NULL","X-linked Dominant/Recessive? (PMID 16264330)","NULL","NULL","HIGH","-~-~300775~-","ELF4"]
["ELK1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~311040~-","ELK1"]
["ELK1","Mental retardation, X-linked","NULL","X-linked Dominant/Recessive? (PMID 1186900)","NULL","NULL","HIGH","-~-~311040~-","ELK1"]
["ELOVL4","Ichthyosis, intellectual disability and spastic quadriplegia","Ichthyosis, spastic quadriplegia, and mental retardation","Autosomal Recessive","Ichthyosis, spastic quadriplegia, and mental retardation:Autosomal Recessive$Stargardt disease 3:Autosomal Dominant$Stargardt's disease:Autosomal Dominant","Ichthyosis, spastic quadriplegia, and mental retardation:Autosomal Recessive$Stargardt's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6785[geneid]~-~605512~-","ELOVL4"]
["ELOVL4","Stargardt disease","Stargardt's disease","Autosomal Dominant","Ichthyosis, spastic quadriplegia, and mental retardation:Autosomal Recessive$Stargardt disease 3:Autosomal Dominant$Stargardt's disease:Autosomal Dominant","Ichthyosis, spastic quadriplegia, and mental retardation:Autosomal Recessive$Stargardt's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6785[geneid]~-~605512~-","ELOVL4"]
["ELOVL4","Stargardt disease 3 and macular dystrophy","Stargardt disease 3;Hereditary macular dystrophy","Autosomal Dominant","Ichthyosis, spastic quadriplegia, and mental retardation:Autosomal Recessive$Stargardt disease 3:Autosomal Dominant$Stargardt's disease:Autosomal Dominant","Ichthyosis, spastic quadriplegia, and mental retardation:Autosomal Recessive$Stargardt's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6785[geneid]~-~605512~-","ELOVL4"]
["ELP2","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55250[geneid]~-~-~-","ELP2"]
["EMC1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive",null,null,null,"-~-~-~-","EMC1"]
["EMD","Atrial fibrillation","Atrial fibrillation","X-linked Recessive","Emery-Dreifuss muscular dystrophy:X-linked Recessive$Scapuloperoneal muscular dystrophy:X-linked Recessive","Emery-Dreifuss muscular dystrophy:X-linked Recessive$Scapuloperoneal muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436~300384~-","EMD"]
["EMD","Conduction cardiomyopathy","NULL","X-linked Dominant/Recessive? (PMID 11369194)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436~300384~-","EMD"]
["EMD","Muscular dystrophy, Emery-Dreifuss","Emery-Dreifuss muscular dystrophy","X-linked Recessive","Emery-Dreifuss muscular dystrophy:X-linked Recessive$Scapuloperoneal muscular dystrophy:X-linked Recessive","Emery-Dreifuss muscular dystrophy:X-linked Recessive$Scapuloperoneal muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436~300384~-","EMD"]
["EMX2","Schizencephaly","Schizencephaly","Autosomal Dominant","Schizencephaly:Autosomal Dominant","Schizencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2018[geneid]~-~600035~-","EMX2"]
["ENAM","Amelogenesis imperfecta","Amelogenesis imperfecta","Autosomal Dominant","Amelogenesis Imperfecta, Type IB:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis Imperfecta, Type IC:Autosomal Recessive$Amelogenesis imperfecta:Autosomal Recessive","Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10117[geneid]~-~606585~-","ENAM"]
["ENAM","Amelogenesis imperfecta, Autosomal Dominant","Amelogenesis imperfecta","Autosomal Dominant","Amelogenesis Imperfecta, Type IB:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis Imperfecta, Type IC:Autosomal Recessive$Amelogenesis imperfecta:Autosomal Recessive","Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10117[geneid]~-~606585~-","ENAM"]
["ENAM","Amelogenesis imperfecta, hypoplastic","Amelogenesis Imperfecta, Type IB","Autosomal Dominant","Amelogenesis Imperfecta, Type IB:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis Imperfecta, Type IC:Autosomal Recessive$Amelogenesis imperfecta:Autosomal Recessive","Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10117[geneid]~-~606585~-","ENAM"]
["ENAM","Amelogenesis imperfecta, hypoplastic","Amelogenesis Imperfecta, Type IC","Autosomal Recessive","Amelogenesis Imperfecta, Type IB:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis Imperfecta, Type IC:Autosomal Recessive$Amelogenesis imperfecta:Autosomal Recessive","Amelogenesis imperfecta:Autosomal Dominant$Amelogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10117[geneid]~-~606585~-","ENAM"]
["ENDOV","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ENDOV"]
["ENG","Gastrointestinal polyposis","Diffuse gastrointestinal polyposis disease","Risk","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2022[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~131195~-","ENG"]
["ENG","Haemorrhagic telangiectasia","Osler hemorrhagic telangiectasia syndrome","Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2022[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~131195~-","ENG"]
["ENG","Haemorrhagic telangiectasia 1","Osler hemorrhagic telangiectasia syndrome","Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2022[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~131195~-","ENG"]
["ENG","Haemorrhagic telangiectasia with brain arteriovenous malformations","Osler hemorrhagic telangiectasia syndrome","Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2022[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~131195~-","ENG"]
["ENG","Intracranial aneurysm","Intracranial aneurysm","Risk","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2022[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~131195~-","ENG"]
["ENG","Polyposis, juvenile","NULL","Need full text PMID 16287957","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2022[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~131195~-","ENG"]
["ENG","Pulmonary hypertension, primary","Primary pulmonary hypertension","Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","Osler hemorrhagic telangiectasia syndrome:Autosomal Dominant$Hemorrhagic Telangiectasia, Hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2022[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1351~131195~-","ENG"]
["ENO3","Beta-enolase deficiency","Glycogen Storage Disease XIII","Autosomal Recessive","Glycogen Storage Disease XIII:Autosomal Recessive$Glycogen Storage Disease:Autosomal Recessive","Glycogen Storage Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2027[geneid]~-~131370~-","ENO3"]
["ENPP1","Generalized arterial calcification of infancy","Arterial calcification of infancy","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Hypophosphatemic Rickets, Autosomal Recessive, 2:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5167[geneid]~-~173335~-","ENPP1"]
["ENPP1","Generalized arterial calcification of infancy and pseudoxanthoma elasticum","Arterial calcification of infancy;Pseudoxanthoma elasticum","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Hypophosphatemic Rickets, Autosomal Recessive, 2:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5167[geneid]~-~173335~-","ENPP1"]
["ENPP1","Idiopathic infantile arterial calcification","Arterial calcification of infancy","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Hypophosphatemic Rickets, Autosomal Recessive, 2:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5167[geneid]~-~173335~-","ENPP1"]
["ENPP1","Myelopathy ","NULL","Not listed in HGMD or OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5167[geneid]~-~173335~-","ENPP1"]
["ENPP1","Rickets, hypophosphataemic","Phosphopenic type rickets","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Hypophosphatemic Rickets, Autosomal Recessive, 2:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5167[geneid]~-~173335~-","ENPP1"]
["ENPP1","Rickets, hypophosphataemic & OPLL","Phosphopenic type rickets","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Hypophosphatemic Rickets, Autosomal Recessive, 2:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5167[geneid]~-~173335~-","ENPP1"]
["ENPP1","Rickets, hypophosphataemic, Autosomal Recessive","Phosphopenic type rickets","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Hypophosphatemic Rickets, Autosomal Recessive, 2:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","Arterial calcification of infancy:Autosomal Recessive$Punctate palmoplantar keratoderma:Autosomal Dominant$Phosphopenic type rickets:Autosomal Recessive$Ossification of the posterior longitudinal ligament of the spine:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5167[geneid]~-~173335~-","ENPP1"]
["ENTPD1","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~601752~-","ENTPD1"]
["EOGT","Adams-Oliver syndrome","Adams-Oliver syndrome","Autosomal Recessive","Adams-Oliver syndrome:Autosomal Recessive","Adams-Oliver syndrome:Autosomal Recessive","HIGH","-~-~614789~-","EOGT"]
["EP300","Rubinstein-Taybi syndrome","Rubinstein-Taybi syndrome","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Rubinstein-Taybi syndrome:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Rubinstein-Taybi syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2033[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1526~602700~-","EP300"]
["EP300","Rubinstein-Taybi syndrome, non-typical","Rubinstein-Taybi syndrome","Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Rubinstein-Taybi syndrome:Autosomal Dominant","Colorectal cancer:Autosomal Dominant$Rubinstein-Taybi syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2033[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1526~602700~-","EP300"]
["EPAS1","Erythrocytosis","Erythrocytosis","Autosomal Dominant","Erythrocytosis, Familial, 4:Autosomal Dominant$Erythrocytosis:Autosomal Dominant","Erythrocytosis:Autosomal Dominant","HIGH","-~-~603349~-","EPAS1"]
["EPAS1","Polycythaemia with paraganglioma","Erythrocytosis;Paraganglioma","Autosomal Dominant","Erythrocytosis, Familial, 4:Autosomal Dominant$Erythrocytosis:Autosomal Dominant","Erythrocytosis:Autosomal Dominant","HIGH","-~-~603349~-","EPAS1"]
["EPB41","Elliptocytosis","Elliptocytosis","Autosomal Dominant","Elliptocytosis 1:Autosomal Dominant$Elliptocytosis 1:Autosomal Recessive$Elliptocytosis:Autosomal Dominant$Elliptocytosis:Autosomal Recessive","$Elliptocytosis:Autosomal Dominant$Elliptocytosis:Autosomal Recessive","HIGH","-~-~130500~-","EPB41"]
["EPB41","Elliptocytosis","Elliptocytosis","Autosomal Recessive","Elliptocytosis 1:Autosomal Dominant$Elliptocytosis 1:Autosomal Recessive$Elliptocytosis:Autosomal Dominant$Elliptocytosis:Autosomal Recessive","$Elliptocytosis:Autosomal Dominant$Elliptocytosis:Autosomal Recessive","HIGH","-~-~130500~-","EPB41"]
["EPB41L1","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~602879~-","EPB41L1"]
["EPB42","Haemolytic anaemia","Hemolytic anemia","Autosomal Recessive","Spherocytosis, Type 5:Autosomal Recessive$Hereditary spherocytosis:Autosomal Recessive","Hereditary spherocytosis:Autosomal Recessive","HIGH","-~-~177070~-","EPB42"]
["EPB42","Spherocytosis","Spherocytosis","Autosomal Recessive","Spherocytosis, Type 5:Autosomal Recessive$Hereditary spherocytosis:Autosomal Recessive","Hereditary spherocytosis:Autosomal Recessive","HIGH","-~-~177070~-","EPB42"]
["EPB42","Thalassaemia alpha","Hemolytic anemia;alpha Thalassemia","Autosomal Recessive","Spherocytosis, Type 5:Autosomal Recessive$Hereditary spherocytosis:Autosomal Recessive","Hereditary spherocytosis:Autosomal Recessive","HIGH","-~-~177070~-","EPB42"]
["EPCAM","Congenital tufting enteropathy","Diarrhea 5, With Tufting Enteropathy, Congenital","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 8:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Diarrhea 5, With Tufting Enteropathy, Congenital:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Diarrhea 5, With Tufting Enteropathy, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4072[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~185535~-","EPCAM"]
["EPG5","Vici syndrome","Absent corpus callosum cataract immunodeficiency","Autosomal Recessive","Absent corpus callosum cataract immunodeficiency:Autosomal Recessive","Absent corpus callosum cataract immunodeficiency:Autosomal Recessive","HIGH","-~-~615068~-","EPG5"]
["EPHA2","Cataracts","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~176946~-","EPHA2"]
["EPHA2","Paediatric cataract","Juvenile cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~176946~-","EPHA2"]
["EPHA4","Amyotrophic lateral sclerosis, reduced disease severity","Amyotrophic lateral sclerosis","Modifier","Amyotrophic lateral sclerosis:Modifier","Amyotrophic lateral sclerosis:Modifier","HIGH","-~-~602188~-","EPHA4"]
["EPHB2","Autism","Autistic Disorder","Risk","Malignant neoplasm of prostate:Risk","Malignant neoplasm of prostate:Risk","HIGH","-~-~600997~-","EPHB2"]
["EPHB2","Colorectal cancer","Colorectal Cancer","Risk","Malignant neoplasm of prostate:Risk","Malignant neoplasm of prostate:Risk","HIGH","-~-~600997~-","EPHB2"]
["EPHB6","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~602757~-","EPHB6"]
["EPM2A","Epilepsy, progressive myoclonus","Progressive myoclonic epilepsy","Autosomal Recessive","Lafora disease:Autosomal Recessive$Epilepsy, Progressive Myoclonic 2B:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","Lafora disease:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7957[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1389~607566~-","EPM2A"]
["EPM2A","Myoclonic epilepsy of Lafora","Lafora disease","Autosomal Recessive","Lafora disease:Autosomal Recessive$Epilepsy, Progressive Myoclonic 2B:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","Lafora disease:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7957[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1389~607566~-","EPM2A"]
["EPOR","Erythrocytosis","Erythrocytosis","Autosomal Dominant","Polycythemia, primary familial and congenital:Autosomal Dominant","Polycythemia, primary familial and congenital:Autosomal Dominant","HIGH","-~-~133171~-","EPOR"]
["EPOR","Polycythaemia","Polycythemia vera","Autosomal Dominant","Polycythemia, primary familial and congenital:Autosomal Dominant","Polycythemia, primary familial and congenital:Autosomal Dominant","HIGH","-~-~133171~-","EPOR"]
["EPS8L3","Marie Unna hereditary hypotrichosis","Marie Unna congenital hypotrichosis","Autosomal Dominant",null,null,"HIGH","-~-~614989~-","EPS8L3"]
["EPX","Eosinophil peroxidase deficiency","Presentey Anomaly","Autosomal Recessive","Presentey Anomaly:Autosomal Recessive","Presentey Anomaly:Autosomal Recessive","HIGH","-~-~131399~-","EPX"]
["ERAF","Thalassaemia","NULL","Not listed in HGMD or OMIM","NULL","NULL","HIGH","-~-~605821~-","AHSP"]
["ERAF","Thalassaemia","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~605821~-","ERAF"]
["ERAP1","Ankylosing spondylitis","Ankylosing spondylitis","Risk","Ankylosing spondylitis:Risk","Ankylosing spondylitis:Risk","HIGH","-~-~606832~-","ERAP1"]
["ERBB3","Contracture syndrome type 2","Lethal Congenital Contracture Syndrome 2","Autosomal Recessive","Lethal Congenital Contracture Syndrome 2:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","Contracture of multiple joints:Autosomal Recessive","HIGH","-~-~190151~-","ERBB3"]
["ERBB4","Bipolar disorder","Severe bipolar disorder with psychotic features, mood-incongruent","Risk","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~600543~-","ERBB4"]
["ERCC1","Cerebro-oculo-facio-skeletal syndrome","Cerebro-oculo-facio-skeletal syndrome","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cerebrooculofacioskeletal Syndrome 4:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~126380~-","ERCC1"]
["ERCC1","Xeroderma pigmentosum","Xeroderma pigmentosum","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cerebrooculofacioskeletal Syndrome 4:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~126380~-","ERCC1"]
["ERCC2","Mild sun sensitivity","Photosensitivity of skin","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cerebrooculofacioskeletal syndrome 2:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group D:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~126340~-","ERCC2"]
["ERCC2","Trichothiodystrophy","Brittle hair-impaired intellect-decreased fertility-short stature syndrome","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cerebrooculofacioskeletal syndrome 2:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group D:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~126340~-","ERCC2"]
["ERCC2","Trichothiodystrophy/Xeroderma pigmentosum/Cockayne syndrome","Brittle hair-impaired intellect-decreased fertility-short stature syndrome;Xeroderma pigmentosum;Cockayne syndrome","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cerebrooculofacioskeletal syndrome 2:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group D:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~126340~-","ERCC2"]
["ERCC2","Xeroderma pigmentosum","Xeroderma pigmentosum","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cerebrooculofacioskeletal syndrome 2:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group D:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive$Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~126340~-","ERCC2"]
["ERCC3","Cockayne syndrome","Cockayne syndrome","Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group B:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133510~-","ERCC3"]
["ERCC3","Trichothiodystrophy","Brittle hair-impaired intellect-decreased fertility-short stature syndrome","Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group B:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133510~-","ERCC3"]
["ERCC3","Xeroderma pigmentosum ","Xeroderma pigmentosum","Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group B:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133510~-","ERCC3"]
["ERCC3","Xeroderma pigmentosum/Cockayne syndrome","Xeroderma pigmentosum;Cockayne syndrome","Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum, group B:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Tricho-thiodystrophy:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133510~-","ERCC3"]
["ERCC4","Cockayne syndrome","Cockayne syndrome","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum, group F:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133520~-","ERCC4"]
["ERCC4","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum, group F:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133520~-","ERCC4"]
["ERCC4","Fanconi's anemia","NULL","Autosomal Recessive (Not listed in HGMD, Listed in OMIM)","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133520~-","ERCC4"]
["ERCC4","Progeroid syndrome","Cutis laxa-corneal clouding-oligophrenia syndrome","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum, group F:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133520~-","ERCC4"]
["ERCC4","Xeroderma pigmentosum ","Xeroderma pigmentosum","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum, group F:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$XFE Progeroid Syndrome:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133520~-","ERCC4"]
["ERCC5","Xeroderma pigmentosum","Xeroderma pigmentosum","Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive$Xeroderma pigmentosum, group G:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133530~-","ERCC5"]
["ERCC5","Xeroderma pigmentosum / Cockayne syndrome","Xeroderma pigmentosum;Cockayne syndrome","Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive$Xeroderma pigmentosum, group G:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive$Cockayne syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~133530~-","ERCC5"]
["ERCC6","Cerebro-oculo-facio-skeletal syndrome","Cerebro-oculo-facio-skeletal syndrome","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Cerebrooculofacioskeletal Syndrome 1:Autosomal Recessive$Cockayne Syndrome, Type II:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2074[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1342~609413~-","ERCC6"]
["ERCC6","Cockayne syndrome","Cockayne syndrome","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Cerebrooculofacioskeletal Syndrome 1:Autosomal Recessive$Cockayne Syndrome, Type II:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2074[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1342~609413~-","ERCC6"]
["ERCC6","Cockayne syndrome type II","Cockayne syndrome type II","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Cerebrooculofacioskeletal Syndrome 1:Autosomal Recessive$Cockayne Syndrome, Type II:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2074[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1342~609413~-","ERCC6"]
["ERCC6","UV-sensitive syndrome","UV-sensitive syndrome","Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Cerebrooculofacioskeletal Syndrome 1:Autosomal Recessive$Cockayne Syndrome, Type II:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","Cerebro-oculo-facio-skeletal syndrome:Autosomal Recessive$Cockayne Syndrome:Autosomal Recessive$Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa:Autosomal Recessive$De Sanctis-Cacchione syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2074[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1342~609413~-","ERCC6"]
["ERCC8","Cockayne syndrome","Cockayne syndrome","Autosomal Recessive","Cockayne Syndrome:Autosomal Recessive$Cockayne Syndrome, Type I:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","Cockayne Syndrome:Autosomal Recessive$UV-Sensitive Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1161[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1342~609412~-","ERCC8"]
["ERCC8","UV-Sensitive Syndrome","NULL","Autosomal Recessive (Not listed in HGMD, Listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1161[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1342~609412~-","ERCC8"]
["ERF","Craniosynostosis, complex","Craniosynostosis syndrome","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant","HIGH","-~-~611888~-","ERF"]
["ERLIN2","Intellectual disability","Intellectual Disability","Risk","Spastic Paraplegia 18, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11160[geneid]~-~611605~-","ERLIN2"]
["ERLIN2","Intellectual disability, motor dysfunction & joint contractures","Spastic Paraplegia 18, Autosomal Recessive","Autosomal Recessive","Spastic Paraplegia 18, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11160[geneid]~-~611605~-","ERLIN2"]
["ERLIN2","Lateral sclerosis, juvenile primary","Spastic Paraplegia 18, Autosomal Recessive","Autosomal Recessive","Spastic Paraplegia 18, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11160[geneid]~-~611605~-","ERLIN2"]
["ERMAP","Scianna blood group variation","Scianna blood group system","Autosomal Recessive","Scianna blood group system:Autosomal Recessive$Blood group antigen Radin:Autosomal Dominant","Scianna blood group system:Autosomal Recessive$Blood group antigen Radin:Autosomal Dominant","HIGH","-~-~609017~-","ERMAP"]
["ESAM","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~614281~-","ESAM"]
["ESCO2","Roberts syndrome","Roberts-SC phocomelia syndrome","Autosomal Recessive","Roberts-SC phocomelia syndrome:Autosomal Recessive","Roberts-SC phocomelia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=157570[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1153~609353~-","ESCO2"]
["ESCO2","SC Phocomelia","Roberts-SC phocomelia syndrome","Autosomal Recessive","Roberts-SC phocomelia syndrome:Autosomal Recessive","Roberts-SC phocomelia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=157570[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1153~609353~-","ESCO2"]
["ESPN","Deafness and vestibular areflexia","Deafness;Vestibular areflexia, complete","Autosomal Recessive","Deafness, Autosomal Recessive 36:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83715[geneid]~-~606351~-","ESPN"]
["ESPN","Hearing loss, Autosomal Dominant","Hearing loss","Autosomal Dominant","Deafness, Autosomal Recessive 36:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83715[geneid]~-~606351~-","ESPN"]
["ESPN","Hearing loss, non-syndromic","Hearing loss","Autosomal Dominant","Deafness, Autosomal Recessive 36:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83715[geneid]~-~606351~-","ESPN"]
["ESR1","Altered gene expression","NULL","No disease association","NULL","NULL","HIGH","-~-~133430~-","ESR1"]
["ESR1","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Estrogen resistance:Autosomal Recessive","Estrogen resistance:Autosomal Recessive","HIGH","-~-~133430~-","ESR1"]
["ESR1","Oestrogen resistance","Estrogen resistance","Autosomal Recessive","Estrogen resistance:Autosomal Recessive","Estrogen resistance:Autosomal Recessive","HIGH","-~-~133430~-","ESR1"]
["ESR1","Osteoporosis","Osteoporosis","Autosomal Recessive","Estrogen resistance:Autosomal Recessive","Estrogen resistance:Autosomal Recessive","HIGH","-~-~133430~-","ESR1"]
["ESR1","Precocious puberty","Precocious puberty","Autosomal Recessive","Estrogen resistance:Autosomal Recessive","Estrogen resistance:Autosomal Recessive","HIGH","-~-~133430~-","ESR1"]
["ESR2","Primary amenorrhea","Primary physiologic amenorrhea","Autosomal Recessive","Amenorrhea:Autosomal Recessive","Primary physiologic amenorrhea:Autosomal Recessive","HIGH","-~-~601663~-","ESR2"]
["ESRRB","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 35:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness, Autosomal Recessive 35:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2103[geneid]~-~602167~-","ESRRB"]
["ESRRB","Hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 35:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness, Autosomal Recessive 35:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2103[geneid]~-~602167~-","ESRRB"]
["ETFA","Electron transfer flavoprotein deficiency","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2108[geneid]~-~608053~-","ETFA"]
["ETFA","Glutaricacidaemia 2a","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2108[geneid]~-~608053~-","ETFA"]
["ETFA","Glutaricaciduria 2a","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2108[geneid]~-~608053~-","ETFA"]
["ETFA","Increased stability","Very long chain acyl-CoA dehydrogenase deficiency","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2108[geneid]~-~608053~-","ETFA"]
["ETFB","Electron transfer flavoprotein deficiency","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2109[geneid]~-~130410~-","ETFB"]
["ETFB","Glutaricacidaemia 2","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2109[geneid]~-~130410~-","ETFB"]
["ETFB","Glutaricacidaemia 2b","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2109[geneid]~-~130410~-","ETFB"]
["ETFB","Glutaricaciduria 2b","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2109[geneid]~-~130410~-","ETFB"]
["ETFDH","Acyl-CoA dehydrogenation deficiency","Acyl-CoA dehydrogenase deficiency","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2110[geneid]~-~231675~-","ETFDH"]
["ETFDH","Coenzyme Q10 deficiency","Coenzyme Q10 Deficiency","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2110[geneid]~-~231675~-","ETFDH"]
["ETFDH","Glutaricacidaemia 2","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2110[geneid]~-~231675~-","ETFDH"]
["ETFDH","Glutaricacidaemia 2c","Glutaric aciduria, type 2","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2110[geneid]~-~231675~-","ETFDH"]
["ETFDH","Lipid storage myopathy","Lipid storage myopathy","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2110[geneid]~-~231675~-","ETFDH"]
["ETFDH","Subacute myopathy","Lipid storage myopathy","Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","Glutaric aciduria, type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2110[geneid]~-~231675~-","ETFDH"]
["ETHE1","Encephalopathy, ethylmalonic","Ethylmalonic encephalopathy","Autosomal Recessive","Ethylmalonic encephalopathy:Autosomal Recessive","Ethylmalonic encephalopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23474[geneid]~-~608451~-","ETHE1"]
["EVC","Ellis-van Creveld syndrome","Chondroectodermal dysplasia","Autosomal Recessive","Chondroectodermal dysplasia:Autosomal Recessive$Ellis Van Creveld Dysplasia:Autosomal Recessive$Weyers acrofacial dysostosis:Autosomal Dominant$Curry-Hall syndrome:Autosomal Dominant","Chondroectodermal dysplasia:Autosomal Recessive$Ellis Van Creveld Dysplasia:Autosomal Recessive$Weyers acrofacial dysostosis:Autosomal Dominant$Curry-Hall syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2121[geneid]~-~604831~-","EVC"]
["EVC","Ellis-van Creveld syndrome without lip/nail/dental abnormalities","Chondroectodermal dysplasia","Autosomal Recessive","Chondroectodermal dysplasia:Autosomal Recessive$Ellis Van Creveld Dysplasia:Autosomal Recessive$Weyers acrofacial dysostosis:Autosomal Dominant$Curry-Hall syndrome:Autosomal Dominant","Chondroectodermal dysplasia:Autosomal Recessive$Ellis Van Creveld Dysplasia:Autosomal Recessive$Weyers acrofacial dysostosis:Autosomal Dominant$Curry-Hall syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2121[geneid]~-~604831~-","EVC"]
["EVC","Weyers acrodental dysostosis","Curry-Hall syndrome","Autosomal Dominant","Chondroectodermal dysplasia:Autosomal Recessive$Ellis Van Creveld Dysplasia:Autosomal Recessive$Weyers acrofacial dysostosis:Autosomal Dominant$Curry-Hall syndrome:Autosomal Dominant","Chondroectodermal dysplasia:Autosomal Recessive$Ellis Van Creveld Dysplasia:Autosomal Recessive$Weyers acrofacial dysostosis:Autosomal Dominant$Curry-Hall syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2121[geneid]~-~604831~-","EVC"]
["EVC2","Ellis-van Creveld syndrome","Chondroectodermal dysplasia","Autosomal Recessive","Ellis Van Creveld Dysplasia:Autosomal Recessive$Chondroectodermal dysplasia:Autosomal Recessive","Ellis Van Creveld Dysplasia:Autosomal Recessive$Chondroectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=132884[geneid]~-~607261~-","EVC2"]
["EVC2","Weyers acrofacial dysostosis","Curry-Hall syndrome","Autosomal Dominant","Ellis Van Creveld Dysplasia:Autosomal Recessive$Chondroectodermal dysplasia:Autosomal Recessive","Ellis Van Creveld Dysplasia:Autosomal Recessive$Chondroectodermal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=132884[geneid]~-~607261~-","EVC2"]
["EWSR1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Ewing's sarcoma:Risk$Neuroepithelioma:Risk","Ewing's sarcoma:Risk$Neuroepithelioma:Risk","HIGH","-~-~133450~-","EWSR1"]
["EXO1","Colorectal cancer, non-polyposis","Hereditary nonpolyposis colon cancer","Risk",null,null,"HIGH","-~-~606063~-","EXO1"]
["EXOC4","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive","HIGH","-~-~608185~-","EXOC4"]
["EXOC8","Joubert syndrome","Familial aplasia of the vermis","Risk",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=149371[geneid]~-~-~-","EXOC8"]
["EXOSC3","Pontocerebellar hypoplasia 1","Pontocerebellar Hypoplasia Type 1","Autosomal Recessive","Pontocerebellar Hypoplasia Type 1:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","-~-~606489~-","EXOSC3"]
["EXPH5","Inherited skin fragility","Epidermolysis bullosa","Autosomal Recessive","Epidermolysis bullosa:Autosomal Recessive","Epidermolysis bullosa:Autosomal Recessive","HIGH","-~-~612878~-","EXPH5"]
["EXT1","Chondrosarcoma","Chondrosarcoma","Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608177~-","EXT1"]
["EXT1","Langer-Giedion syndrome","Langer-Giedion syndrome","Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608177~-","EXT1"]
["EXT1","Multiple exostoses","Multiple congenital exostosis","Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608177~-","EXT1"]
["EXT1","Multiple exostoses 1","Multiple congenital exostosis","Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608177~-","EXT1"]
["EXT1","Multiple osteochondromas","Multiple congenital exostosis","Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608177~-","EXT1"]
["EXT1","Osteochondroma","Osteochondroma","Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","Chondrosarcoma:Autosomal Recessive$Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608177~-","EXT1"]
["EXT2","Multiple exostoses","Multiple congenital exostosis","Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608210~-","EXT2"]
["EXT2","Multiple exostoses 2","Multiple congenital exostosis","Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608210~-","EXT2"]
["EXT2","Multiple osteochondromas","Multiple congenital exostosis","Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608210~-","EXT2"]
["EXT2","Osteochondroma","Osteochondroma","Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","Multiple congenital exostosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1235~608210~-","EXT2"]
["EXTL3","Multiple exostoses","Multiple congenital exostosis","Risk","Multiple congenital exostosis:Risk","Multiple congenital exostosis:Risk","HIGH","-~-~605744~-","EXTL3"]
["EYA1","Branchio-otic syndrome","Branchiootic syndrome","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Branchio-oto-renal / branchiootic syndrome","Melnick-Fraser syndrome;Branchiootic syndrome","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Branchio-oto-renal syndrome","Melnick-Fraser syndrome","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Cayler's cardiofacial syndrome","NULL","Need full text PMID 15493068","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Iris anomaly","Congenital anomaly of iris","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Oto-facio-cervical syndrome","NULL","Need full text PMID 16441263","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Peters' anomaly with cataracts","Irido-corneo-trabecular dysgenesis","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Renal hypodysplasia","Renal Hypodysplasia, Nonsyndromic, 1","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA1","Ureteropelvic junction obstruction and reduced renal function","Hydronephrosis with ureteropelvic junction obstruction","Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","Congenital anomaly of anterior chamber of eye:Autosomal Dominant$Branchiootic syndrome:Autosomal Dominant$Branchio Oto Renal Syndrome:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant$Otofaciocervical Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601653~-","EYA1"]
["EYA4","Cardiomyopathy, Dilated, 1J ","Cardiomyopathy, Dilated, 1J","Autosomal Dominant","Cardiomyopathy, Dilated, 1J:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Deafness, Autosomal Dominant 10:Autosomal Dominant$Deafness:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2070[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~603550~-","EYA4"]
["EYA4","Hearing loss","Hearing loss","Autosomal Dominant","Cardiomyopathy, Dilated, 1J:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Deafness, Autosomal Dominant 10:Autosomal Dominant$Deafness:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2070[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~603550~-","EYA4"]
["EYA4","Late-onset deafness","Deafness","Autosomal Dominant","Cardiomyopathy, Dilated, 1J:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Deafness, Autosomal Dominant 10:Autosomal Dominant$Deafness:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2070[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~603550~-","EYA4"]
["EYA4","Sensorineural deafness","Sensorineural hearing loss","Autosomal Dominant","Cardiomyopathy, Dilated, 1J:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Deafness, Autosomal Dominant 10:Autosomal Dominant$Deafness:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2070[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~603550~-","EYA4"]
["EYS","Retinitis pigmentosa","Retinitis Pigmentosa 25","Autosomal Recessive","Retinitis Pigmentosa 25:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=346007[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~612424~-","EYS"]
["EYS","Retinitis pigmentosa, Autosomal Recessive","Retinitis Pigmentosa 25","Autosomal Recessive","Retinitis Pigmentosa 25:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=346007[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~612424~-","EYS"]
["EZH2","Weaver syndrome","Weaver syndrome","Autosomal Dominant","Weaver syndrome:Autosomal Dominant","Weaver syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2146[geneid]~-~601573~-","EZH2"]
["F10","Factor X deficiency","Factor X deficiency","Autosomal Dominant","Factor X deficiency:Autosomal Recessive","Factor X deficiency:Autosomal Recessive","HIGH","-~-~613872~-","F10"]
["F10","Factor X deficiency","Factor X deficiency","Autosomal Recessive","Factor X deficiency:Autosomal Recessive","Factor X deficiency:Autosomal Recessive","HIGH","-~-~613872~-","F10"]
["F10","Factor X deficiency, Riyadh type","Factor X deficiency","Autosomal Recessive","Factor X deficiency:Autosomal Recessive","Factor X deficiency:Autosomal Recessive","HIGH","-~-~613872~-","F10"]
["F11","Factor XI deficiency","Hereditary factor XI deficiency disease","Autosomal Dominant","Hereditary factor XI deficiency disease:Autosomal Dominant$Hereditary factor XI deficiency disease:Autosomal Recessive","Hereditary factor XI deficiency disease:Autosomal Dominant$Hereditary factor XI deficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2160[geneid]~-~264900~-","F11"]
["F11","Factor XI deficiency","Hereditary factor XI deficiency disease","Autosomal Recessive","Hereditary factor XI deficiency disease:Autosomal Dominant$Hereditary factor XI deficiency disease:Autosomal Recessive","Hereditary factor XI deficiency disease:Autosomal Dominant$Hereditary factor XI deficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2160[geneid]~-~264900~-","F11"]
["F11","Thrombophilia","NULL","Need full text PMID 15140147","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2160[geneid]~-~264900~-","F11"]
["F12","Angioedema, hereditary","Hereditary angioneurotic edema","Autosomal Dominant","Hereditary angioneurotic edema:Autosomal Dominant$Hereditary Angioedema Type III:Autosomal Dominant$Factor XII deficiency disease:Autosomal Recessive","Hereditary angioneurotic edema:Autosomal Dominant$Factor XII deficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2161[geneid]~-~610619~-","F12"]
["F12","Deep vein thrombosis","NULL","Not associated with DVT PMID 22353194","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2161[geneid]~-~610619~-","F12"]
["F12","Factor XII deficiency","Factor XII deficiency disease","Autosomal Recessive","Hereditary angioneurotic edema:Autosomal Dominant$Hereditary Angioedema Type III:Autosomal Dominant$Factor XII deficiency disease:Autosomal Recessive","Hereditary angioneurotic edema:Autosomal Dominant$Factor XII deficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2161[geneid]~-~610619~-","F12"]
["F12","Haemolytic uraemic syndrome, atypical","Hemolytic uremic syndrome","Autosomal Recessive","Hereditary angioneurotic edema:Autosomal Dominant$Hereditary Angioedema Type III:Autosomal Dominant$Factor XII deficiency disease:Autosomal Recessive","Hereditary angioneurotic edema:Autosomal Dominant$Factor XII deficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2161[geneid]~-~610619~-","F12"]
["F13A1","Deep venous thrombosis","NULL","Decreased Risk (Listed in OMIM PMID 10365735)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2162[geneid]~-~134570~-","F13A1"]
["F13A1","Factor XIII deficiency","Factor XIII deficiency disease","Autosomal Recessive","Factor XIII deficiency disease:Autosomal Recessive$Hereditary factor XIII A subunit deficiency:Autosomal Recessive","Factor XIII deficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2162[geneid]~-~134570~-","F13A1"]
["F13A1","Factor XIII-A type II deficiency","Hereditary factor XIII A subunit deficiency","Autosomal Recessive","Factor XIII deficiency disease:Autosomal Recessive$Hereditary factor XIII A subunit deficiency:Autosomal Recessive","Factor XIII deficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2162[geneid]~-~134570~-","F13A1"]
["F13A1","Myocardial infarction ","NULL","Decreased Risk (Listed in OMIM PMID 9459313)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2162[geneid]~-~134570~-","F13A1"]
["F13B","Deep vein thrombosis","Deep venous thrombosis","Decreased Risk","Hereditary factor XIII B subunit deficiency:Autosomal Recessive","Hereditary factor XIII B subunit deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2165[geneid]~-~134580~-","F13B"]
["F13B","Factor XIII deficiency","Hereditary factor XIII B subunit deficiency","Autosomal Recessive","Hereditary factor XIII B subunit deficiency:Autosomal Recessive","Hereditary factor XIII B subunit deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2165[geneid]~-~134580~-","F13B"]
["F2","Dysprothrombinaemia","Hereditary factor II deficiency disease","Autosomal Recessive","Hereditary factor II deficiency disease:Autosomal Recessive$Factor II Deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","Hereditary factor II deficiency disease:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1148~176930~-","F2"]
["F2","Hypoprothrombinaemia","Hereditary factor II deficiency disease","Autosomal Recessive","Hereditary factor II deficiency disease:Autosomal Recessive$Factor II Deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","Hereditary factor II deficiency disease:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1148~176930~-","F2"]
["F2","Prothrombin deficiency","Factor II deficiency","Autosomal Recessive","Hereditary factor II deficiency disease:Autosomal Recessive$Factor II Deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","Hereditary factor II deficiency disease:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1148~176930~-","F2"]
["F2","Thrombosis","Thrombosis","Autosomal Dominant","Hereditary factor II deficiency disease:Autosomal Recessive$Factor II Deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","Hereditary factor II deficiency disease:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1148~176930~-","F2"]
["F2","Thrombosis, venous","Venous thrombosis","Autosomal Dominant","Hereditary factor II deficiency disease:Autosomal Recessive$Factor II Deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","Hereditary factor II deficiency disease:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1148~176930~-","F2"]
["F5","Altered FV1/FV2 ratio","NULL","Need full text PMID 20694279 for disease and inheritance","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2153[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1368~612309~-","F5"]
["F5","Deep vein thrombosis","Deep venous thrombosis","Autosomal Dominant","Factor V deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia due to Activated Protein C Resistance:Autosomal Dominant","Factor V deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2153[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1368~612309~-","F5"]
["F5","Factor V deficiency","Factor V deficiency","Autosomal Recessive","Factor V deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia due to Activated Protein C Resistance:Autosomal Dominant","Factor V deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2153[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1368~612309~-","F5"]
["F5","Thrombosis","Thrombosis","Autosomal Dominant","Factor V deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia due to Activated Protein C Resistance:Autosomal Dominant","Factor V deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2153[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1368~612309~-","F5"]
["F7","Factor VII deficiency","Factor VII deficiency","Autosomal Recessive","Factor VII deficiency:Autosomal Recessive","Factor VII deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2155[geneid]~-~613878~-","F7"]
["F8","Haemophilia A","Hereditary factor VIII deficiency disease","X-linked Recessive","Hemophilia A:X-linked Recessive$Hereditary factor VIII deficiency disease:X-linked Recessive","Hemophilia A:X-linked Recessive$Hereditary factor VIII deficiency disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1404~300841~-","F8"]
["F9","Haemophilia B","Hereditary factor IX deficiency disease","X-linked Recessive","Hereditary factor IX deficiency disease:X-linked Recessive$Hemophilia B:X-linked Recessive$Thrombophilia, X-Linked, Due To Factor IX Defect:X-linked Recessive$Thrombophilia:X-linked Recessive$Deep venous thrombosis:Risk","Hereditary factor IX deficiency disease:X-linked Recessive$Hemophilia B:X-linked Recessive$Thrombophilia:X-linked Recessive$Deep venous thrombosis:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1495~300746~-","F9"]
["F9","Haemophilia B, severe","Hereditary factor IX deficiency disease","X-linked Recessive","Hereditary factor IX deficiency disease:X-linked Recessive$Hemophilia B:X-linked Recessive$Thrombophilia, X-Linked, Due To Factor IX Defect:X-linked Recessive$Thrombophilia:X-linked Recessive$Deep venous thrombosis:Risk","Hereditary factor IX deficiency disease:X-linked Recessive$Hemophilia B:X-linked Recessive$Thrombophilia:X-linked Recessive$Deep venous thrombosis:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1495~300746~-","F9"]
["F9","Thrombophilia","NULL","Not listed in HGMD,OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1495~300746~-","F9"]
["F9","Warfarin sensitivity","NULL","Not listed in HGMD,OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1495~300746~-","F9"]
["FA2H","Leukodystrophy with spastic paraparesis","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK56080~611026~-","FA2H"]
["FA2H","Leukodystrophy with spastic paraparesis & dystonia","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK56080~611026~-","FA2H"]
["FA2H","Neurodegeneration","Nerve Degeneration","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK56080~611026~-","FA2H"]
["FA2H","Neurodegeneration with brain iron accumulation","Nerve Degeneration","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK56080~611026~-","FA2H"]
["FA2H","Spastic paraparesis with thin corpus callosum","Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK56080~611026~-","FA2H"]
["FA2H","Spastic paraplegia","Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK56080~611026~-","FA2H"]
["FA2H","Spastic paraplegia 35","Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK56080~611026~-","FA2H"]
["FAAH","Obesity","Obesity","Risk","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~602935~-","FAAH"]
["FAAH2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300654~-","FAAH2"]
["FABP1","Increased apo B levels in a high fat diet","Familial combined hyperlipidemia","Autosomal Recessive",null,null,"HIGH","-~-~134650~-","FABP1"]
["FADD","FADD deficiency","Encephalopathy;Disorder of liver;Cardiovascular Abnormalities","Autosomal Recessive","Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations:Autosomal Recessive","Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations:Autosomal Recessive","HIGH","-~-~602457~-","FADD"]
["FADS2","Increased expression","NULL","No disease associations mentioned PMID 19546342","NULL","NULL","HIGH","-~-~606149~-","FADS2"]
["FADS2","Increased expression","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~606149~-","FADS2"]
["FAH","Fumarylacetocacetase pseudodeficiency","Tyrosinemia type I","Autosomal Recessive","Tyrosinemia type I:Autosomal Recessive$Tyrosinemia:Autosomal Recessive","Tyrosinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1515~613871~-","FAH"]
["FAH","Phenotype modifier","Fumarylacetoacetase deficiency","Modifier","Tyrosinemia type I:Autosomal Recessive$Tyrosinemia:Autosomal Recessive","Tyrosinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1515~613871~-","FAH"]
["FAH","Tyrosinaemia 1","Tyrosinemia type I","Autosomal Recessive","Tyrosinemia type I:Autosomal Recessive$Tyrosinemia:Autosomal Recessive","Tyrosinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2184[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1515~613871~-","FAH"]
["FAM111A","Kenny-Caffey syndrome","Kenny-Caffey syndrome","Autosomal Dominant","Gracile bone dysplasia:Autosomal Dominant$Kenny-Caffey syndrome:Autosomal Dominant","Gracile bone dysplasia:Autosomal Dominant$Kenny-Caffey syndrome:Autosomal Dominant",null,"-~-~615292~-","FAM111A"]
["FAM111A","Osteocraniostenosis","Gracile bone dysplasia","Autosomal Dominant","Gracile bone dysplasia:Autosomal Dominant$Kenny-Caffey syndrome:Autosomal Dominant","Gracile bone dysplasia:Autosomal Dominant$Kenny-Caffey syndrome:Autosomal Dominant",null,"-~-~615292~-","FAM111A"]
["FAM111B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~615584~-","FAM111B"]
["FAM120A","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612265~-","FAM120A"]
["FAM120B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612266~-","FAM120B"]
["FAM123B","Osteopathia striata with cranial sclerosis","Osteopathia striata with cranial sclerosis","X-linked Dominant","Osteopathia striata with cranial sclerosis:X-linked dominant","Osteopathia striata with cranial sclerosis:X-linked dominant","HIGH","-~-~300647~-","AMER1"]
["FAM123B","Wilms tumour","Nephroblastoma","X-linked Dominant","Osteopathia striata with cranial sclerosis:X-linked dominant","Osteopathia striata with cranial sclerosis:X-linked dominant","HIGH","-~-~300647~-","AMER1"]
["FAM126A","Hypomyelination & congenital cataract","Leukodystrophy, Hypomyelinating, 5","Autosomal Recessive","Leukodystrophy, Hypomyelinating, 5:Autosomal Recessive$Leukodystrophy, Hypomyelinating:Autosomal Recessive","Leukodystrophy, Hypomyelinating:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84668[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2587~610531~-","FAM126A"]
["FAM134B","Sensory and autonomic neuropathy type II","Hereditary sensory and autonomic neuropathy type II","Autosomal Recessive","Hereditary sensory and autonomic neuropathy type II:Autosomal Recessive$Neuropathy, Hereditary Sensory And Autonomic, Type IIB:Autosomal Recessive$Hereditary sensory and autonomic neuropathy:Autosomal Recessive","Hereditary sensory and autonomic neuropathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK49247~613114~-","FAM134B"]
["FAM161A","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~613596~-","FAM161A"]
["FAM166A","Colorectal cancer","Colorectal Cancer","Risk",null,null,null,"-~-~-~-","FAM166A"]
["FAM175A","Breast cancer","Malignant tumor of breast","Autosomal Dominant",null,null,"HIGH","-~-~611143~-","FAM175A"]
["FAM20A","Amelogenesis imperfecta & gingival hyperplasia syndrome","Amelogenesis imperfecta;Gingival fibromatosis","Autosomal Recessive","Amelogenesis imperfecta and gingival fibromatosis syndrome:Autosomal Recessive","Amelogenesis imperfecta and gingival fibromatosis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54757[geneid]~-~611062~-","FAM20A"]
["FAM20A","Enamel-renal syndrome","Enamel-renal syndrome","Autosomal Recessive","Amelogenesis imperfecta and gingival fibromatosis syndrome:Autosomal Recessive","Amelogenesis imperfecta and gingival fibromatosis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54757[geneid]~-~611062~-","FAM20A"]
["FAM20C","Hypophosphataemia, dental anomalies & ectopic calcification","Hypophosphatemia;Dental anomalies;Greenberg dysplasia","Autosomal Recessive","Raine syndrome:Autosomal Recessive","Raine syndrome:Autosomal Recessive","HIGH","-~-~611061~-","FAM20C"]
["FAM20C","Osteosclerotic bone dysplasia, lethal","Raine syndrome","Autosomal Recessive","Raine syndrome:Autosomal Recessive","Raine syndrome:Autosomal Recessive","HIGH","-~-~611061~-","FAM20C"]
["FAM20C","Osteosclerotic bone dysplasia, non-lethal","Raine syndrome","Autosomal Recessive","Raine syndrome:Autosomal Recessive","Raine syndrome:Autosomal Recessive","HIGH","-~-~611061~-","FAM20C"]
["FAM63B","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54629[geneid]~-~-~-","FAM63B"]
["FAM71A","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","FAM71A"]
["FAM81B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","FAM81B"]
["FAM83H","Amelogenesis imperfecta, hypocalcified","Amelogenesis imperfecta, hypocalcification type","Autosomal Dominant","Amelogenesis Imperfecta, Type III:Autosomal Dominant$Amelogenesis imperfecta, hypocalcification type:Autosomal Dominant$Amelogenesis Imperfecta:Autosomal Dominant","Amelogenesis Imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=286077[geneid]~-~611927~-","FAM83H"]
["FAM83H","Amelogenesis imperfecta, hypoplastic local","Amelogenesis imperfecta - hypoplastic Autosomal Dominant - local","Autosomal Dominant","Amelogenesis Imperfecta, Type III:Autosomal Dominant$Amelogenesis imperfecta, hypocalcification type:Autosomal Dominant$Amelogenesis Imperfecta:Autosomal Dominant","Amelogenesis Imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=286077[geneid]~-~611927~-","FAM83H"]
["FAM8A1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51439[geneid]~-~-~-","FAM8A1"]
["FAM91A1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=157769[geneid]~-~-~-","FAM91A1"]
["FAM9C","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300479~-","FAM9C"]
["FANCA","Breast cancer","Malignant tumor of breast","Risk","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2175[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~607139~-","FANCA"]
["FANCA","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2175[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~607139~-","FANCA"]
["FANCA","Fanconi anaemia A","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2175[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~607139~-","FANCA"]
["FANCA","Pancreatic cancer","Malignant tumor of pancreas","Risk","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2175[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~607139~-","FANCA"]
["FANCB","Fanconi anaemia","Fanconi's anemia","X-linked Recessive","Fanconi's anemia:X-linked Recessive$Fanconi Anemia, Complementation Group B:X-linked Recessive","Fanconi's anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2187[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~300515~-","FANCB"]
["FANCB","VACTERL-H","VACTERL association with hydrocephaly, X-linked","X-linked Recessive","Fanconi's anemia:X-linked Recessive$Fanconi Anemia, Complementation Group B:X-linked Recessive","Fanconi's anemia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2187[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~300515~-","FANCB"]
["FANCC","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Autosomal Dominant","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2176[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613899~-","FANCC"]
["FANCC","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2176[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613899~-","FANCC"]
["FANCC","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2176[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613899~-","FANCC"]
["FANCC","T-cell acute lymphocytic leukaemia","Acute myeloid leukemia, disease","Autosomal Dominant","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2176[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613899~-","FANCC"]
["FANCD2","Colorectal cancer","Colorectal Cancer","Risk","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2177[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613984~-","FANCD2"]
["FANCD2","Esophageal cancer","Malignant tumor of esophagus","Autosomal Dominant","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2177[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613984~-","FANCD2"]
["FANCD2","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2177[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613984~-","FANCD2"]
["FANCE","Breast cancer","Malignant tumor of breast","Risk","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613976~-","FANCE"]
["FANCE","Esophageal cancer","Malignant tumor of esophagus","Autosomal Dominant","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613976~-","FANCE"]
["FANCE","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2178[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613976~-","FANCE"]
["FANCF","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2188[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613897~-","FANCF"]
["FANCG","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2189[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~602956~-","FANCG"]
["FANCI","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive$Fanconi Anemia, Complementation Group I:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55215[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~611360~-","FANCI"]
["FANCL","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55120[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~608111~-","FANCL"]
["FANCM","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57697[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~609644~-","FANCM"]
["FANCM","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57697[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~609644~-","FANCM"]
["FARS2","Mitochondrial encephalomyopathy","Mitochondrial encephalomyopathy","Autosomal Recessive","Combined oxidative phosphorylation deficiency 14:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10667[geneid]~-~611592~-","FARS2"]
["FAS","Autoimmune hepatitis 2","Autoimmune hepatitis","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IA:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=355[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134637~-","FAS"]
["FAS","Autoimmune lymphoproliferative syndrome","Autoimmune Lymphoproliferative Syndrome","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IA:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=355[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134637~-","FAS"]
["FAS","Autoimmune lymphoproliferative syndrome","Autoimmune Lymphoproliferative Syndrome","Autosomal Recessive","Autoimmune Lymphoproliferative Syndrome, Type IA:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=355[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134637~-","FAS"]
["FAS","Canale-Smith syndrome","Autoimmune Lymphoproliferative Syndrome","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IA:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=355[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134637~-","FAS"]
["FAS","Lymphoproliferative disorder","Lymphoproliferative disorder","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IA:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=355[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134637~-","FAS"]
["FAS","Reduced function","Autoimmune Lymphoproliferative Syndrome","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IA:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=355[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134637~-","FAS"]
["FAS","Systemic lupus erythematosus","NULL","mutation introduced by mRNA editing (PMID 21793106) ","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=355[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134637~-","FAS"]
["FASLG","Autoimmune lymphoproliferative syndrome","Autoimmune Lymphoproliferative Syndrome","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IB:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134638~-","FASLG"]
["FASLG","Autoimmune lymphoproliferative syndrome, type 1b","Autoimmune Lymphoproliferative Syndrome","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IB:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134638~-","FASLG"]
["FASLG","Sjoegren syndrome with enlarged exocrine glands","Sjoegren's syndrome","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome, Type IB:Autosomal Dominant$Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=356[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1108~134638~-","FASLG"]
["FASN","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~600212~-","FASN"]
["FASTKD2","Cytochrome c oxidase deficiency","Cytochrome-c oxidase deficiency","Autosomal Recessive","Mitochondrial Complex IV Deficiency:Autosomal Recessive$Cytochrome-c oxidase deficiency:Autosomal Recessive","Mitochondrial Complex IV Deficiency:Autosomal Recessive$Cytochrome-c oxidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22868[geneid]~-~612322~-","FASTKD2"]
["FAT1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600976~-","FAT1"]
["FAT2","Restless legs syndrome","Restless legs","Autosomal Dominant",null,null,"HIGH","-~-~604269~-","FAT2"]
["FAT3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612483~-","FAT3"]
["FBLN1","Fechtner syndrome","Fechtner syndrome","Autosomal Dominant","Synpolydactyly 2:Autosomal Dominant","Synpolydactyly 2:Autosomal Dominant","HIGH","-~-~135820~-","FBLN1"]
["FBLN1","Synpolydactyly 2","NULL","Autosomal Dominant (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","-~-~135820~-","FBLN1"]
["FBLN5","Age-related macular degeneration","Age-related macular degeneration","Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis Laxa, Autosomal Recessive, Type I:Autosomal Recessive$Cutis laxa:Autosomal Recessive$Macular Degeneration, Age-Related, 3:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis laxa:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5201~604580~-","FBLN5"]
["FBLN5","Charcot-Marie-Tooth disease 1","Charcot-Marie-Tooth disease","Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis Laxa, Autosomal Recessive, Type I:Autosomal Recessive$Cutis laxa:Autosomal Recessive$Macular Degeneration, Age-Related, 3:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis laxa:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5201~604580~-","FBLN5"]
["FBLN5","Charcot-Marie-Tooth disease, spinal","Neuronopathy, Distal Hereditary Motor, Type I","Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis Laxa, Autosomal Recessive, Type I:Autosomal Recessive$Cutis laxa:Autosomal Recessive$Macular Degeneration, Age-Related, 3:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis laxa:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5201~604580~-","FBLN5"]
["FBLN5","Cutis laxa","Cutis laxa","Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis Laxa, Autosomal Recessive, Type I:Autosomal Recessive$Cutis laxa:Autosomal Recessive$Macular Degeneration, Age-Related, 3:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis laxa:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5201~604580~-","FBLN5"]
["FBLN5","Cutis laxa","Cutis laxa","Autosomal Recessive","Cutis laxa:Autosomal Dominant$Cutis Laxa, Autosomal Recessive, Type I:Autosomal Recessive$Cutis laxa:Autosomal Recessive$Macular Degeneration, Age-Related, 3:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis laxa:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5201~604580~-","FBLN5"]
["FBLN5","Phenotype modification in cutis laxa","Cutis laxa","Modifier","Cutis laxa:Autosomal Dominant$Cutis Laxa, Autosomal Recessive, Type I:Autosomal Recessive$Cutis laxa:Autosomal Recessive$Macular Degeneration, Age-Related, 3:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Cutis laxa:Autosomal Dominant$Cutis laxa:Autosomal Recessive$Age-related macular degeneration:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5201~604580~-","FBLN5"]
["FBN1","Acromicric dysplasia","Acromicric dysplasia","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Aortic aneurysm","Aortic aneurysm","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Aortic aneurysm, thoracic","Aneurysm of thoracic aorta","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Bicuspid aortic valve","Bicuspid aortic valve","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Bilateral lens dislocation and glaucoma","Subluxation of lens;Glaucoma","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Ectopia lentis","Congenital ectopic lens","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Ectopia lentis & aortic aneurysm / dissection","Congenital ectopic lens;Aortic aneurysm","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Ectopia lentis, isolated form","Congenital ectopic lens","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Fibrillinopathy","Marfan's syndrome","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Furlong syndrome","NULL","Cannot determine inheritance from PMID 19293843","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114~134797~-","FBN1"]
["FBN1","Geleophysic / acromicric dysplasia","Geleophysic dysplasia;Acromicric dysplasia","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Geleophysic dysplasia","Geleophysic dysplasia","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Idiopathic arthritis & mitral valve prolapse","Juvenile idiopathic arthritis;Mitral valve prolapse","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Kyphoscoliosis","Congenital kyphoscoliosis","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Lens luxation and striae","Complete luxation of lens","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Marfan syndrome","Marfan's syndrome","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Marfan syndrome & schizophrenia","Marfan's syndrome;Schizophrenia","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Marfan syndrome with intracranial hypertension","Marfan's syndrome;Benign intracranial hypertension","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Marfan syndrome with lipodystrophy","Marfan's syndrome;Lipodystrophy","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Marfan syndrome, incomplete","Marfan's syndrome","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Marfan syndrome, neonatal","Marfan's syndrome","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Mitral valve prolapse","Mitral valve prolapse","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Progeroid facial features & lipodystrophy","NULL","Not listed in HGMD,OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114~134797~-","FBN1"]
["FBN1","Shprintzen-Goldberg syndrome","NULL","Not listed in HGMD,OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114~134797~-","FBN1"]
["FBN1","Stiff skin syndrome","Infantile stiff skin syndrome","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Stiff skin syndrome with ectopia lentis","Infantile stiff skin syndrome;Congenital ectopic lens","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Thoracic aortic aneurysm","Aneurysm of thoracic aorta","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Thoracic aortic aneurysm or dissection","Aneurysm of thoracic aorta","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN1","Weill-Marchesani syndrome","Weill-Marchesani syndrome","Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Familial ectopia lentis:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","Acromicric dysplasia:Autosomal Dominant$Aneurysm of ascending aorta:Autosomal Dominant$Dissecting aortic aneurysm:Autosomal Dominant$Congenital ectopic lens:Autosomal Dominant$Geleophysic dysplasia:Autosomal Dominant$MASS syndrome:Autosomal Dominant$Marfan's syndrome:Autosomal Dominant$Stiff Skin Syndrome:Autosomal Dominant$Weill Marchesani Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1114$http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1335$http://www.ncbi.nlm.nih.gov/books/NBK11168~134797~-","FBN1"]
["FBN2","Congenital heart disease","Congenital heart disease","Risk","Congenital contractural arachnodactyly:Autosomal Dominant","Congenital contractural arachnodactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2201[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1386~612570~-","FBN2"]
["FBN2","Contractural arachnodactyly","Congenital contractural arachnodactyly","Autosomal Dominant","Congenital contractural arachnodactyly:Autosomal Dominant","Congenital contractural arachnodactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2201[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1386~612570~-","FBN2"]
["FBP1","Fructose-1,6-bisphosphatase deficiency","Fructose-biphosphatase deficiency","Autosomal Recessive","Fructose-biphosphatase deficiency:Autosomal Recessive","Fructose-biphosphatase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2203[geneid]~-~611570~-","FBP1"]
["FBXL6","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609076~-","FBXL6"]
["FBXO10","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609092~-","FBXO10"]
["FBXO18","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607222~-","FBXO18"]
["FBXO7","Parkinson disease","Parkinson's disease","Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Pallidopyramidal syndrome:Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Pallidopyramidal syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~605648~-","FBXO7"]
["FBXO7","Parkinsonian-pyramidal syndrome","Parkinson's disease","Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Pallidopyramidal syndrome:Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Pallidopyramidal syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~605648~-","FBXO7"]
["FCGR1A","IgG receptor I, phagocytic, deficiency","NULL","Need full text PMID 7533186","NULL","NULL","HIGH","-~-~146760~-","FCGR1A"]
["FCGR1A","IgG receptor I, phagocytic, deficiency","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~146760~-","FCGR1A"]
["FCGR2A","Altered expression","NULL","Not listed in HGMD,OMIM","NULL","NULL","HIGH","-~-~146790~-","FCGR2A"]
["FCGR2A","Altered expression","NULL","No such disease record in HGMD for this gene","NULL","NULL","HIGH","-~-~146790~-","FCGR2A"]
["FCGR2A","Altered receptor signalling","NULL","Not listed in HGMD,OMIM","NULL","NULL","HIGH","-~-~146790~-","FCGR2A"]
["FCGR2A","Altered receptor signalling","NULL","No such disease record in HGMD for this gene","NULL","NULL","HIGH","-~-~146790~-","FCGR2A"]
["FCGR2A","Immunoglobulin binding variant","Disorder of immune function;Inflammatory disorder","Risk",null,null,"HIGH","-~-~146790~-","FCGR2A"]
["FCGR2A","Inflammatory bowel disease, susceptibility to","Inflammatory bowel disease","Risk",null,null,"HIGH","-~-~146790~-","FCGR2A"]
["FCGR3A","Higher binding capacities","NULL","No disease associations mentioned PMID 19546342","NULL","NULL","HIGH","-~-~146740~-","FCGR3A"]
["FCGR3A","Higher binding capacities","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~146740~-","FCGR3A"]
["FCGR3B","SH alloantigen","Alloimmune neonatal neutropenia","Autosomal Recessive","Alloimmune neonatal neutropenia:Autosomal Recessive","Alloimmune neonatal neutropenia:Autosomal Recessive","HIGH","-~-~610665~-","FCGR3B"]
["FCN2","FCN2 deficiency","Immunity, Innate","Modifier",null,null,"HIGH","-~-~601624~-","FCN2"]
["FCN2","N-acetylglucosamine binding","Immunity, Innate","Modifier",null,null,"HIGH","-~-~601624~-","FCN2"]
["FCN3","Altered function","NULL","No disease associations mentioned PMID 15879437","NULL","NULL","HIGH","-~-~604973~-","FCN3"]
["FCN3","FCN3 deficiency","NULL","No disease associations mentioned PMID 15879438","NULL","NULL","HIGH","-~-~604973~-","FCN3"]
["FCRL6","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613562~-","FCRL6"]
["FDFT1","Increased total cholesterol","Total cholesterol","Modifier",null,null,"HIGH","-~-~184420~-","FDFT1"]
["FECH","Protoporphyria","Erythropoietic protoporphyria","Autosomal Recessive","Erythropoietic protoporphyria:Autosomal Recessive","Erythropoietic protoporphyria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2235[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK100826~612386~-","FECH"]
["FECH","Protoporphyria, erythropoietic","Erythropoietic protoporphyria","Autosomal Recessive","Erythropoietic protoporphyria:Autosomal Recessive","Erythropoietic protoporphyria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2235[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK100826~612386~-","FECH"]
["FECH","Reduced transcription","NULL","Need full text PMID 15850836","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2235[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK100826~612386~-","FECH"]
["FEM1A","Polycystic ovary syndrome","Polycystic ovaries","Autosomal Dominant",null,null,"HIGH","-~-~613538~-","FEM1A"]
["FERMT1","Kindler syndrome","Kindler's syndrome","Autosomal Recessive","Kindler's syndrome:Autosomal Recessive","Kindler's syndrome:Autosomal Recessive","HIGH","-~-~607900~-","FERMT1"]
["FERMT3","Integrin activation deficiency disease","Leukocyte Adhesion Deficiency, Type III","Autosomal Recessive","Leukocyte Adhesion Deficiency, Type III:Autosomal Recessive$Leucocyte adhesion deficiency:Autosomal Recessive","Leucocyte adhesion deficiency:Autosomal Recessive","HIGH","-~-~607901~-","FERMT3"]
["FERMT3","Leukocyte adhesion deficiency 1v","Leukocyte adhesion deficiency type 1","Autosomal Recessive","Leukocyte Adhesion Deficiency, Type III:Autosomal Recessive$Leucocyte adhesion deficiency:Autosomal Recessive","Leucocyte adhesion deficiency:Autosomal Recessive","HIGH","-~-~607901~-","FERMT3"]
["FERMT3","Leukocyte adhesion deficiency 3","Leukocyte Adhesion Deficiency, Type III","Autosomal Recessive","Leukocyte Adhesion Deficiency, Type III:Autosomal Recessive$Leucocyte adhesion deficiency:Autosomal Recessive","Leucocyte adhesion deficiency:Autosomal Recessive","HIGH","-~-~607901~-","FERMT3"]
["FEZF2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607414~-","FEZF2"]
["FFAR1","Loss of FFA receptor function","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~603820~-","FFAR1"]
["FGA","Afibrinogenaemia","Afibrinogenemia","Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGA","Amyloidosis, renal","Amyloid nephropathy","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGA","Decreased fibrinogen levels","Hypofibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGA","Deep vein thrombosis","NULL","Risk ?verify from PMID 22353194","NULL","NULL","HIGH","-~-~134820~-","FGA"]
["FGA","Dysfibrinogenaemia","Dysfibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGA","Fibrinogen variant","Dysfibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGA","Haemorrhages","Hemorrhage","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGA","Hypodysfibrinogenaemia","Hypodysfibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGA","Hypofibrinogenaemia","Hypofibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134820~-","FGA"]
["FGB","Afibrinogenaemia","Afibrinogenemia","Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Dysfibrinogenemia:Autosomal Dominant$Thrombophilia, dysfibrinogenemic:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134830~-","FGB"]
["FGB","Dysfibrinogenaemia","Dysfibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Dysfibrinogenemia:Autosomal Dominant$Thrombophilia, dysfibrinogenemic:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134830~-","FGB"]
["FGB","Fibrinogen variant","Hypofibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Dysfibrinogenemia:Autosomal Dominant$Thrombophilia, dysfibrinogenemic:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134830~-","FGB"]
["FGB","Haemorrhages","Hemorrhage","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Dysfibrinogenemia:Autosomal Dominant$Thrombophilia, dysfibrinogenemic:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134830~-","FGB"]
["FGB","Hypodysfibrinogenaemia","Hypodysfibrinogenemia","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Dysfibrinogenemia:Autosomal Dominant$Thrombophilia, dysfibrinogenemic:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134830~-","FGB"]
["FGB","Hypofibrinogenaemia","Hypofibrinogenemia","Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Dysfibrinogenemia:Autosomal Dominant$Thrombophilia, dysfibrinogenemic:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134830~-","FGB"]
["FGB","Increased plasma fibrinogen levels","Fibrinogen level","Autosomal Dominant","Afibrinogenemia:Autosomal Recessive$Congenital afibrinogenemia:Autosomal Recessive$Dysfibrinogenemia:Autosomal Dominant$Thrombophilia, dysfibrinogenemic:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Afibrinogenemia:Autosomal Recessive$Amyloid nephropathy:Autosomal Dominant$Dysfibrinogenemia:Autosomal Dominant","HIGH","-~-~134830~-","FGB"]
["FGD1","Aarskog-Scott syndrome","Aarskog syndrome","X-linked Recessive","Aarskog syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","Aarskog syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2245[geneid]~-~300546~-","FGD1"]
["FGD1","Attention deficit hyperactivity disorder","Attention deficit hyperactivity disorder","X-linked Recessive","Aarskog syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","Aarskog syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2245[geneid]~-~300546~-","FGD1"]
["FGD1","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Aarskog syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","Aarskog syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2245[geneid]~-~300546~-","FGD1"]
["FGD3","Autism","Autistic Disorder","Risk","Glucocorticoid Deficiency 3:Autosomal Recessive$Glucocorticoid deficiency:Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=89846[geneid]~-~-~-","FGD3"]
["FGD4","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 4H:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=121512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~611104~-","FGD4"]
["FGD4","Charcot-Marie-Tooth disease 4H","Charcot-Marie-Tooth Disease, Type 4H","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 4H:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=121512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~611104~-","FGD4"]
["FGF10","Aplasia of lacrimal and salivary glands","Congenital absence of salivary gland","Autosomal Dominant","Congenital absence of salivary gland:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant","Congenital absence of salivary gland:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2255[geneid]~-~602115~-","FGF10"]
["FGF10","Extreme myopia, increased risk","Severe myopia","Risk","Congenital absence of salivary gland:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant","Congenital absence of salivary gland:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2255[geneid]~-~602115~-","FGF10"]
["FGF10","Lacrimo-auriculo-dento-digital syndrome","Levy-Hollister syndrome","Autosomal Dominant","Congenital absence of salivary gland:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant","Congenital absence of salivary gland:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2255[geneid]~-~602115~-","FGF10"]
["FGF14","Cerebral ataxia, Autosomal Dominant","Cerebral ataxia","Autosomal Dominant","Spinocerebellar ataxia 27:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2259[geneid]~-~601515~-","FGF14"]
["FGF17","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","-~-~603725~-","FGF17"]
["FGF17","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","-~-~603725~-","FGF17"]
["FGF22","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605831~-","FGF22"]
["FGF23","Rickets, hypophosphataemic, Autosomal Dominant","Autosomal Dominant hypophosphatemic rickets","Autosomal Dominant","Autosomal Dominant hypophosphatemic rickets:Autosomal Dominant$Phosphopenic type rickets:Autosomal Dominant$Tumor-induced osteomalacia:Autosomal Dominant$Tumoral Calcinosis, Hyperphosphatemic, Familial:Autosomal Recessive$Tumoral calcinosis:Autosomal Recessive","Phosphopenic type rickets:Autosomal Dominant$Tumor-induced osteomalacia:Autosomal Dominant$Tumoral calcinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8074[geneid]~-~605380~-","FGF23"]
["FGF23","Tumoural calcinosis with hyperphosphataemia","Tumoral calcinosis;Hyperphosphatemia","Autosomal Recessive","Autosomal Dominant hypophosphatemic rickets:Autosomal Dominant$Phosphopenic type rickets:Autosomal Dominant$Tumor-induced osteomalacia:Autosomal Dominant$Tumoral Calcinosis, Hyperphosphatemic, Familial:Autosomal Recessive$Tumoral calcinosis:Autosomal Recessive","Phosphopenic type rickets:Autosomal Dominant$Tumor-induced osteomalacia:Autosomal Dominant$Tumoral calcinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8074[geneid]~-~605380~-","FGF23"]
["FGF3","Labyrinthine aplasia, microtia & microdontia","Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)","Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK100664~164950~-","FGF3"]
["FGF3","Michel aplasia, microtia & microdontia","Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)","Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK100664~164950~-","FGF3"]
["FGF3","Syndromic deafness","Deafness","Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK100664~164950~-","FGF3"]
["FGF3","Syndromic deafness, microtia & microdontia","Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)","Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK100664~164950~-","FGF3"]
["FGF8","Cleft lip and palate","Cleft palate with cleft lip","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2253[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~600483~-","FGF8"]
["FGF8","Combined pituitary hormone deficiency","Pituitary Hormone Deficiency, Combined, 1","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2253[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~600483~-","FGF8"]
["FGF8","Holoprosencephaly","Holoprosencephaly sequence","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2253[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~600483~-","FGF8"]
["FGF8","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2253[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~600483~-","FGF8"]
["FGF8","Hypospadias","Hypospadias","Risk","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2253[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~600483~-","FGF8"]
["FGF8","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2253[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~600483~-","FGF8"]
["FGF8","Septo-optic dysplasia / Moebius syndrome","Septo-optic dysplasia sequence;Oromandibular-limb hypogenesis spectrum","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2253[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~600483~-","FGF8"]
["FGF9","Multiple synostoses syndrome","Multiple synostosis syndrome","Autosomal Dominant","Multiple synostosis syndrome:Autosomal Dominant$Multiple Synostoses Syndrome 3:Autosomal Dominant","Multiple synostosis syndrome:Autosomal Dominant","HIGH","-~-~600921~-","FGF9"]
["FGFR1","Cleft lip and palate","Cleft palate with cleft lip","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","GnRH deficiency","Gonadotropin releasing factor deficiency","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Hartsfield syndrome","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Hypothalamic amenorrhea","Hypothalamic amenorrhea","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Non-syndromic trigonocephaly","Trigonocephaly","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Osteoglophonic dysplasia","Osteoglophonic dysplasia","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Pfeiffer syndrome","Acrocephalosyndactyly type V","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR1","Septic-optic dysplasia","Septo-optic dysplasia sequence","Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Kallmann Syndrome 2:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Trigonocephaly, Nonsyndromic:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Osteoglophonic dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Interfrontal craniofaciosynostosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2260[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1334~136350~-","FGFR1"]
["FGFR2","Apert syndrome","Acrocephalosyndactyly type I","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Beare-Stevenson cutis gyrata syndrome","Cutis Gyrata Syndrome of Beare And Stevenson","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Bent bone dysplasia","Bent bone dysplasia","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Cleft lip and palate","Cleft palate with cleft lip","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Craniosynostosis","Craniosynostosis syndrome","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Craniosynostosis, predisposition to","Craniosynostosis syndrome","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Crouzon syndrome","Crouzon syndrome","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Hypospadias","Hypospadias","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Jackson-Weiss syndrome","Jackson-Weiss syndrome","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Lacrimo-auriculo-dento-digital syndrome","Levy-Hollister syndrome","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Pfeiffer syndrome","Acrocephalosyndactyly type V","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Reduced transcription","Malignant tumor of breast","Risk","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR2","Saethre-Chotzen syndrome","Saethre-Chotzen syndrome","Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Acrocephalosyndactyly type I:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Acrocephalosyndactyly type V:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","Antley-Bixler syndrome:Autosomal Dominant$Apert syndrome:Autosomal Dominant$Cutis Gyrata Syndrome of Beare And Stevenson:Autosomal Dominant$Bent bone dysplasia:Autosomal Dominant$Pfeiffer syndrome:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Crouzon syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Jackson-Weiss syndrome:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Scaphocephaly, Maxillary Retrusion, And Mental Retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2263[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1455~176943~-","FGFR2"]
["FGFR3","Acanthosis nigricans","Acanthosis nigricans","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Achondroplasia","Achondroplasia","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Camptodactyly, tall stature and hearing loss syndrome","CATSHL syndrome","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Cleft lip and palate","Cleft palate with cleft lip","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Craniosynostosis","Craniosynostosis syndrome","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Crouzon syndrome","Crouzon syndrome","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Hypochondroplasia","Hypochondroplasia","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Lacrimo-auriculo-dento-digital syndrome","Levy-Hollister syndrome","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Skeletal dysplasia","Congenital skeletal dysplasia","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Thanatophoric dwarfism","Thanatophoric dysplasia","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGFR3","Thanatophoric dysplasia","Thanatophoric dysplasia","Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric Dysplasia, Type I:Autosomal Dominant$Thanatophoric dysplasia, type 2:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","Achondroplasia:Autosomal Dominant$Malignant neoplasm of urinary bladder:Autosomal Dominant$CATSHL syndrome:Autosomal Dominant$Cervical cancer:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Crouzon Syndrome With Acanthosis Nigricans:Autosomal Dominant$Hypochondroplasia:Autosomal Dominant$Levy-Hollister syndrome:Autosomal Dominant$Muenke syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Spermatocytic seminoma:Autosomal Dominant$Thanatophoric dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1415$http://www.ncbi.nlm.nih.gov/books/NBK1366$http://www.ncbi.nlm.nih.gov/books/NBK1455$http://www.ncbi.nlm.nih.gov/books/NBK1477$http://www.ncbi.nlm.nih.gov/books/NBK1152~134934~-","FGFR3"]
["FGG","Afibrinogenaemia","Afibrinogenemia","Autosomal Recessive","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FGG","Dysfibrinogenaemia","Dysfibrinogenemia","Autosomal Recessive","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FGG","Epistaxis, recurrent","Epistaxis","Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FGG","Fibrinogen variant","Blood coagulation disorder","Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FGG","Hypodysfibrinogenaemia","Hypodysfibrinogenemia","Risk","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FGG","Hypofibrinogenaemia","Hypofibrinogenemia","Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FGG","Hypofibrinogenaemia with hepatic storage","Hypofibrinogenemia","Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FGG","Menorrhagia","Menorrhagia","Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Gamma chain defect dysfibrinogenemia:Autosomal Recessive$Hypofibrinogenemia:Autosomal Dominant$Thrombophilia:Autosomal Dominant","HIGH","-~-~134850~-","FGG"]
["FH","Cutaneous leiomyomatosis","Reed's syndrome","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Fumarase deficiency","Fumarase deficiency","Autosomal Recessive","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Leiomyomatosis","Leiomyomatosis","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Leiomyomatosis and renal cell cancer","Leiomyomatosis and renal cell cancer, hereditary","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Leiomyomatosis, renal cell cancer and male infertility","Leiomyomatosis and renal cell cancer, hereditary;Male infertility","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Leydig cell tumour of the testis","Malignant Leydig cell tumor of testis","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Multiple cutaneous and uterine leiomyoma syndrome","Cutaneous leiomyoma;Uterine leiomyoma","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Multiple leiomyomatosis","Reed's syndrome","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Ovarian mucinous cystadenoma","Mucinous cystadenoma of ovary","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Papillary renal cell carcinoma, isolated type 2","Type 2 Papillary Renal Cell Carcinoma","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Renal cell carcinoma","Renal cell carcinoma","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FH","Uterine fibroids","Uterine leiomyoma","Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Familial hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Fumarase deficiency:Autosomal Recessive$Hypercholesterolemia:Autosomal Dominant$LDL cholesterol level:Autosomal Dominant$Leiomyomatosis and renal cell cancer, hereditary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2271[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1506$http://www.ncbi.nlm.nih.gov/books/NBK1252~136850~-","FH"]
["FHL1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","X-linked Recessive","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FHL1","Hypertrophy, left ventricular","Left ventricular hypertrophy","X-linked Recessive","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FHL1","Muscular dystrophy, Emery-Dreifuss","Emery-Dreifuss muscular dystrophy","X-linked Recessive","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FHL1","Myofibrillar myopathy","Disorder of skeletal AND/OR smooth muscle","X-linked Recessive","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FHL1","Reducing body myopathy","Reducing-body myopathy","X-linked Dominant","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FHL1","Rigid spine muscular dystrophy","Eichsfeld type congenital muscular dystrophy","X-linked Recessive","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FHL1","Scapuloperoneal myopathy","Scapuloperoneal muscular dystrophy","X-linked Dominant","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FHL1","X-linked myopathy with postural muscle atrophy","Myopathy, X-Linked, With Postural Muscle Atrophy","X-linked Recessive","Emery-Dreifuss Muscular Dystrophy 6, X-Linked:X-linked Recessive$Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","Myopathy, X-Linked, With Postural Muscle Atrophy:X-linked Recessive$Myopathy, Reducing Body, X-Linked, Childhood-Onset:X-linked dominant$Myopathy, Reducing Body, X-Linked, Early-Onset, Severe:X-linked dominant$Scapuloperoneal muscular dystrophy:X-linked dominant$Emery-Dreifuss muscular dystrophy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1436~300163~-","FHL1"]
["FIG4","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 11:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 4J:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1468~609390~-","FIG4"]
["FIG4","Charcot-Marie-Tooth disease 4J","Charcot-Marie-Tooth Disease, Type 4j","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 11:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 4J:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1468~609390~-","FIG4"]
["FIG4","Primary lateral sclerosis, adult, 1","Primary Lateral Sclerosis, Adult, 1","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 11:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 4J:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1468~609390~-","FIG4"]
["FIG4","Yunis Varon syndrome ","NULL","Autosomal Recessive (Not listed in HGMD, listed in OMM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~609390~-","FIG4"]
["FIG4","Yunis-Varon syndrome","Yunis Varon syndrome","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 11:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 4J:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Yunis Varon syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1468~609390~-","FIG4"]
["FIGLA","Premature ovarian failure","Premature ovarian failure","Autosomal Dominant","Premature ovarian failure:Autosomal Dominant$Premature Ovarian Failure 6:Autosomal Dominant","Premature ovarian failure:Autosomal Dominant","HIGH","-~-~608697~-","FIGLA"]
["FKBP10","Bruck syndrome","Bruck syndrome","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60681[geneid]~-~607063~-","FKBP10"]
["FKBP10","Osteogenesis imperfecta","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60681[geneid]~-~607063~-","FKBP10"]
["FKBP10","Osteogenesis imperfecta / Bruck syndrome","Osteogenesis imperfecta;Bruck syndrome","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60681[geneid]~-~607063~-","FKBP10"]
["FKBP10","Osteogenesis imperfecta, Autosomal Recessive","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60681[geneid]~-~607063~-","FKBP10"]
["FKBP14","Ehlers-Danlos syndrome, Autosomal Recessive variant","Ehlers-Danlos syndrome","Autosomal Recessive","Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55033[geneid]~-~614505~-","FKBP14"]
["FKBP6","Azoospermia","NULL","Need full length PMID 16983454","NULL","NULL","HIGH","-~-~604839~-","FKBP6"]
["FKBP6","Azoospermia","NULL",null,"NULL","NULL","HIGH","-~-~604839~-","FKBP6"]
["FKBP6","Azoospermia, non-obstructive","NULL","Negated by PMID 16227348","NULL","NULL","HIGH","-~-~604839~-","FKBP6"]
["FKBP6","Azoospermia, non-obstructive","NULL",null,"NULL","NULL","HIGH","-~-~604839~-","FKBP6"]
["FKBPL","Infertility, male","Male infertility","Modifier",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=63943[geneid]~-~-~-","FKBPL"]
["FKRP","Cobblestone lissencephaly","Type 2 lissencephaly","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2I:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606596~-","FKRP"]
["FKRP","Muscle-eye-brain disease","Muscle eye brain disease","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2I:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606596~-","FKRP"]
["FKRP","Muscular dystrophy, congenital","Congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2I:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606596~-","FKRP"]
["FKRP","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2I:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606596~-","FKRP"]
["FKRP","Muscular dystrophy, limb girdle 2","Limb-girdle muscular dystrophy type 2A","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2I:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606596~-","FKRP"]
["FKRP","Muscular dystrophy, limb girdle 2I","Muscular Dystrophy, Limb-Girdle, Type 2I","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2I:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606596~-","FKRP"]
["FKRP","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2I:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606596~-","FKRP"]
["FKTN","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FKTN","Muscle-eye-brain/Fukuyama muscular dystrophy","Muscle eye brain disease;Fukuyama congenital muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FKTN","Muscular dystrophy & mental retardation","Fukuyama congenital muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FKTN","Muscular dystrophy without cardiomyopathy or brain involvement","Muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FKTN","Muscular dystrophy, Fukuyama","Fukuyama congenital muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FKTN","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FKTN","Muscular dystrophy, limb girdle, late onset","Limb-girdle muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FKTN","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1X:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2M:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Fukuyama congenital muscular dystrophy:Autosomal Recessive$Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1206$http://www.ncbi.nlm.nih.gov/books/NBK1291~607440~-","FKTN"]
["FLG","Atopic asthma","Allergic asthma","Autosomal Dominant","Ichthyosis vulgaris:Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","HIGH","-~-~135940~-","FLG"]
["FLG","Atopic dermatitis","Atopic dermatitis","Autosomal Dominant","Ichthyosis vulgaris:Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","HIGH","-~-~135940~-","FLG"]
["FLG","Atopic eczema","Atopic dermatitis","Autosomal Dominant","Ichthyosis vulgaris:Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","HIGH","-~-~135940~-","FLG"]
["FLG","Autism","Autistic Disorder","Risk","Ichthyosis vulgaris:Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","HIGH","-~-~135940~-","FLG"]
["FLG","Eczema","Eczema","Autosomal Dominant","Ichthyosis vulgaris:Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","HIGH","-~-~135940~-","FLG"]
["FLG","Ichthyosis vulgaris","Ichthyosis vulgaris","Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","HIGH","-~-~135940~-","FLG"]
["FLG","Psoriasis vulgaris","Psoriasis vulgaris","Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","Ichthyosis vulgaris:Autosomal Recessive","HIGH","-~-~135940~-","FLG"]
["FLNA","Cardiac valvular dystrophy","Cardiac valvular dysplasia, X-linked","X-linked Recessive","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Chronic idiopathic intestinal pseudo-obstruction","Chronic intestinal pseudo-obstruction","X-linked Recessive","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Congenital short-bowel syndrome","Short bowel syndrome","X-linked Recessive","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Ehlers-Danlos syndrome & heterotopia, periventricular","Heterotopia, Periventricular, Ehlers-Danlos Variant","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","FG syndrome","FG syndrome","X-linked Recessive","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Frontometaphyseal dysplasia","Frontometaphyseal dysplasia","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Heterotopia, nodular","NULL","Need full text PMID 21320118","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1213~300017~-","FLNA"]
["FLNA","Heterotopia, periventricular","X-linked periventricular heterotopia","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Heterotopia, periventricular nodular","Periventricular Nodular Heterotopia","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Heterotopia, periventricular with skeletal dysplasia","X-linked periventricular heterotopia;Congenital skeletal dysplasia","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Melnick-Needles syndrome","Melnick-Needles syndrome","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Mental retardation, X-linked","NULL","No mention of FLNA in PMID 21836662","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1213~300017~-","FLNA"]
["FLNA","Otopalatodigital syndrome 1","Oto-palato-digital syndrome, type I","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Otopalatodigital syndrome 2","Oto-palato-digital syndrome, type II","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Otopalatodigital-spectrum disorder","Otopalatodigital Spectrum Disorder","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Periventricular heterotopia with lung disease","X-linked periventricular heterotopia","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Short bowel syndrome","NULL","X-linked Recessive (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1213~300017~-","FLNA"]
["FLNA","Terminal osseous dysplasia","Terminal Osseous Dysplasia and Pigmentary Defects","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNA","Thrombocytopaenia","Refractory thrombocytopenia","X-linked Dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome 2:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","Cardiac valvular dysplasia, X-linked:X-linked Recessive$Chronic intestinal pseudo-obstruction:X-linked Recessive$FG syndrome:X-linked Recessive$Frontometaphyseal dysplasia:X-linked dominant$X-linked periventricular heterotopia:X-linked dominant$Neuronal intestinal pseudoobstruction:X-linked Recessive$Melnick-Needles syndrome:X-linked dominant$Oto-palato-digital syndrome, type I:X-linked dominant$Oto-palato-digital syndrome, type II:X-linked dominant$Terminal Osseous Dysplasia and Pigmentary Defects:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2316[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1213$http://www.ncbi.nlm.nih.gov/books/NBK1393~300017~-","FLNA"]
["FLNB","Atelosteogenesis","Atelosteogenesis","Autosomal Dominant","Atelosteogenesis, type 1:Autosomal Dominant$Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK2534~603381~-","FLNB"]
["FLNB","Atelosteogenesis type I","Atelosteogenesis, type 1","Autosomal Dominant","Atelosteogenesis, type 1:Autosomal Dominant$Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK2534~603381~-","FLNB"]
["FLNB","Boomerang dysplasia","Boomerang dysplasia","Autosomal Dominant","Atelosteogenesis, type 1:Autosomal Dominant$Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK2534~603381~-","FLNB"]
["FLNB","Larsen syndrome, Autosomal Dominant","Larsen syndrome","Autosomal Dominant","Atelosteogenesis, type 1:Autosomal Dominant$Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK2534~603381~-","FLNB"]
["FLNB","Spondylocarpotarsal syndrome","Spondylocarpotarsal synostosis","Autosomal Recessive","Atelosteogenesis, type 1:Autosomal Dominant$Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","Atelosteogenesis:Autosomal Dominant$Boomerang dysplasia:Autosomal Dominant$Larsen syndrome:Autosomal Dominant$Spondylocarpotarsal synostosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK2534~603381~-","FLNB"]
["FLNC","Arrhythmia & myofibrillar myopathy, late-onset","Myofibrillar myopathy;Arrhythmia","Autosomal Dominant","Myopathy, distal, 4:Autosomal Dominant$Filaminopathy, Autosomal Dominant:Autosomal Dominant","Filaminopathy, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2318[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~102565~-","FLNC"]
["FLNC","Distal myopathy","Myopathy, distal, 4","Autosomal Dominant","Myopathy, distal, 4:Autosomal Dominant$Filaminopathy, Autosomal Dominant:Autosomal Dominant","Filaminopathy, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2318[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~102565~-","FLNC"]
["FLNC","Myopathy, myofibrillar","Myofibrillar myopathy","Autosomal Dominant","Myopathy, distal, 4:Autosomal Dominant$Filaminopathy, Autosomal Dominant:Autosomal Dominant","Filaminopathy, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2318[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~102565~-","FLNC"]
["FLRT3","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant","HIGH","-~-~604808~-","FLRT3"]
["FLT1","Altered response to p53","NULL","No disease association mentioned PMID 16432214","NULL","NULL","HIGH","-~-~165070~-","FLT1"]
["FLT1","Altered response to p53","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~165070~-","FLT1"]
["FLT1","Cardiomyopathy, dilated","Dilated cardiomyopathy","Risk",null,null,"HIGH","-~-~165070~-","FLT1"]
["FLT4","Lymphoedema, primary","Lymphedema praecox","Autosomal Dominant","Hemangioma, capillary infantile:Autosomal Dominant$Hereditary lymphedema type I:Autosomal Dominant","Hemangioma, capillary infantile:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1239~136352~-","FLT4"]
["FLT4","Oedema, prenatal generalised","NULL","Need full text PMID 19394045","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1239~136352~-","FLT4"]
["FLVCR1","Posterior column ataxia & retinitis pigmentosa","Posterior column ataxia;Retinitis pigmentosa","Autosomal Recessive","Posterior column ataxia with retinitis pigmentosa:Autosomal Recessive","Posterior column ataxia with retinitis pigmentosa:Autosomal Recessive","HIGH","-~-~609144~-","FLVCR1"]
["FLVCR2","Proliferative vasculopathy & hydranencephaly-hydrocephaly syndrome","Encephaloclastic Proliferative Vasculopathy","Autosomal Recessive","Encephaloclastic Proliferative Vasculopathy:Autosomal Recessive","Encephaloclastic Proliferative Vasculopathy:Autosomal Recessive","HIGH","-~-~610865~-","FLVCR2"]
["FMO1","FMO1 variant","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~136130~-","FMO1"]
["FMO2","FMO2 variant","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~136131~-","FMO4"]
["FMO3","FMO3 variant","Drug Response","Pharmacogenetic","Trimethylaminuria:Autosomal Recessive","Trimethylaminuria:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1103~136132~-","FMO3"]
["FMO3","Trimethylaminuria","Trimethylaminuria","Autosomal Recessive","Trimethylaminuria:Autosomal Recessive","Trimethylaminuria:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1103~136132~-","FMO3"]
["FMO4","FMO4 variant","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~136131~-","FMO4"]
["FMO5","FMO5 variant","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~603957~-","FMO5"]
["FMR1","Fragile X associated tremor ataxia syndrome","NULL","X-linked Dominant (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1384~309550~-","FMR1"]
["FMR1","Fragile X mental retardation syndrome","Fragile X syndrome","X-linked Dominant","Fragile X syndrome:X-linked dominant$Fragile X associated tremor ataxia syndrome:X-linked dominant$Premature Ovarian Failure, X-Linked:X-linked dominant$Premature Ovarian Failure:X-linked dominant","Fragile X syndrome:X-linked dominant$Fragile X associated tremor ataxia syndrome:X-linked dominant$Premature Ovarian Failure:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1384~309550~-","FMR1"]
["FMR1","Premature ovarian failure","NULL","X-linked Dominant (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1384~309550~-","FMR1"]
["FN1","Autism","Autistic Disorder","Risk","Glomerulopathy with fibronectin deposits:Autosomal Dominant$Plasma fibronectin deficiency:Autosomal Dominant","Glomerulopathy with fibronectin deposits:Autosomal Dominant$Plasma fibronectin deficiency:Autosomal Dominant","HIGH","-~-~135600~-","FN1"]
["FN1","Glomerulopathy with fibronectin deposits","Glomerulopathy with fibronectin deposits","Autosomal Dominant","Glomerulopathy with fibronectin deposits:Autosomal Dominant$Plasma fibronectin deficiency:Autosomal Dominant","Glomerulopathy with fibronectin deposits:Autosomal Dominant$Plasma fibronectin deficiency:Autosomal Dominant","HIGH","-~-~135600~-","FN1"]
["FN3K","Diabetes mellitus, type 2","Diabetes mellitus type 2","Modifier",null,null,"HIGH","-~-~608425~-","FN3K"]
["FNBP4","Microphthalmia with limb anomalies","Anophthalmos with limb anomalies","Autosomal Recessive","Anophthalmos with limb anomalies:Autosomal Recessive","Anophthalmos with limb anomalies:Autosomal Recessive","HIGH","-~-~615265~-","FNBP4"]
["FOLH1","Reduced serum folate","Hyperhomocysteinemia","Risk",null,null,"HIGH","-~-~600934~-","FOLH1"]
["FOLR1","Cerebral folate transport deficiency","Neurodegeneration Due To Cerebral Folate Transport Deficiency","Autosomal Recessive","Neurodegeneration Due To Cerebral Folate Transport Deficiency:Autosomal Recessive","Neurodegeneration Due To Cerebral Folate Transport Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2348[geneid]~-~136430~-","FOLR1"]
["FOLR1","Folate receptor alpha defect with cerebral folate deficiency","Neurodegeneration Due To Cerebral Folate Transport Deficiency","Autosomal Recessive","Neurodegeneration Due To Cerebral Folate Transport Deficiency:Autosomal Recessive","Neurodegeneration Due To Cerebral Folate Transport Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2348[geneid]~-~136430~-","FOLR1"]
["FOLR1","Folate receptor deficiency","NULL","PMID 21937992 does not correspond to disease","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2348[geneid]~-~136430~-","FOLR1"]
["FOLR1","Hyperhomocysteinaemia","NULL","Need full text PMID 16475900","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2348[geneid]~-~136430~-","FOLR1"]
["FOS","Lipodystrophy, congenital generalized","Familial generalized lipodystrophy","Autosomal Recessive",null,null,"HIGH","-~-~164810~-","FOS"]
["FOXA1","Impaired glucose homeostasis","NULL","Negated by PMID 10899756","NULL","NULL","HIGH","-~-~602294~-","FOXA1"]
["FOXA1","Impaired glucose homeostasis","NULL","No association PMID 10899756","NULL","NULL","HIGH","-~-~602294~-","FOXA1"]
["FOXA2","Diabetes, early-onset, MODY","Maturity onset diabetes mellitus in young","Risk",null,null,"HIGH","-~-~600288~-","FOXA2"]
["FOXA2","Impaired glucose homeostasis","Disorder of glucose regulation","Modifier",null,null,"HIGH","-~-~600288~-","FOXA2"]
["FOXA3","Impaired glucose homeostasis","Disorder of glucose regulation","Modifier",null,null,"HIGH","-~-~602295~-","FOXA3"]
["FOXC1","Aniridia","Congenital aniridia","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Anterior segment defect, with glaucoma","Irido-corneal dysgenesis;Glaucoma","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Anterior segment dysgenesis","Irido-corneal dysgenesis","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Axenfeld anomaly","Axenfeld anomaly","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Axenfeld anomaly, with atrial septal defect","Axenfeld anomaly;Atrial septal defect","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Axenfeld anomaly, with glaucoma","Axenfeld anomaly;Glaucoma","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Axenfeld-Rieger & Peters' anomaly","Axenfeld-Rieger Syndrome, Type 3;Irido-corneo-trabecular dysgenesis","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Axenfeld-Rieger anomaly","Axenfeld-Rieger Syndrome, Type 3","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Axenfeld-Rieger syndrome with cardiac anomalies","Axenfeld anomaly;Atrial septal defect","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Congenital glaucoma","Primary congenital glaucoma","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Rieger anomaly","Irido-trabecular dysgenesis","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC1","Rieger anomaly, with glaucoma","Irido-trabecular dysgenesis;Glaucoma","Autosomal Dominant","Axenfeld-Rieger Syndrome, Type 3:Autosomal Dominant$Iridogoniodysgenesis type1:Autosomal Dominant$Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","Iris hypoplasia and glaucoma:Autosomal Dominant$Axenfeld anomaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2296[geneid]~-~601090~-","FOXC1"]
["FOXC2","Distichiasis","Distichiasis","Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2303[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1457~602402~-","FOXC2"]
["FOXC2","Lymphoedema, primary","Lymphedema praecox","Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2303[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1457~602402~-","FOXC2"]
["FOXC2","Lymphoedema-distichiasis","Distichiasis-lymphedema syndrome","Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2303[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1457~602402~-","FOXC2"]
["FOXC2","Oedema, prenatal generalised","Edema","Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","Distichiasis-lymphedema syndrome:Autosomal Dominant$Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2303[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1457~602402~-","FOXC2"]
["FOXD3","Aniridia","Congenital aniridia","Risk",null,null,"HIGH","-~-~611539~-","FOXD3"]
["FOXD4","Dilated cardiomyopathy, OCD and suicidality","Dilated cardiomyopathy;Obsessive-compulsive disorder;Suicide","Risk",null,null,"HIGH","-~-~601092~-","FOXD4"]
["FOXE1","Bamforth syndrome","NULL","Autosomal Recessive (Not listed in HGMD, listed in OMM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2304[geneid]~-~602617~-","FOXE1"]
["FOXE1","Cleft lip","Cleft lip","Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2304[geneid]~-~602617~-","FOXE1"]
["FOXE1","Cleft palate, non-syndromic","Cleft palate","Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2304[geneid]~-~602617~-","FOXE1"]
["FOXE1","Hypothyroidism","Hypothyroidism","Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2304[geneid]~-~602617~-","FOXE1"]
["FOXE1","Thyroid agenesis","Thyroid Agenesis","Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","Bamforth syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2304[geneid]~-~602617~-","FOXE1"]
["FOXE3","Anterior segment dysgenesis","Irido-corneal dysgenesis","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Anterior segment ocular dysgenesis and cataracts","Anterior segment mesenchymal dysgenesis;Cataract","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Aphakia, congenital, primary","Aphakia, congenital primary","Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Cataract, congenital","Congenital cataract","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Eye developmental anomalies, Autosomal Dominant","Congenital anomaly of eye","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Eye developmental anomalies, Autosomal Recessive","Congenital anomaly of eye","Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Microphthalmia, nonsyndromic bilateral","Microphthalmia, bilateral","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Peters' anomaly","Irido-corneo-trabecular dysgenesis","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXE3","Sclerocornea, non-syndromic, bilateral, total","Congenital sclerocornea","Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Aphakia, congenital primary:Autosomal Recessive","HIGH","-~-~601094~-","FOXE3"]
["FOXF1","ACD/MPV with cardiovascular malformations","Alveolar capillary dysplasia with pulmonary venous misalignment;Congenital anomaly of cardiovascular system","Autosomal Dominant","Alveolar capillary dysplasia with pulmonary venous misalignment:Autosomal Recessive","Alveolar capillary dysplasia with pulmonary venous misalignment:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2294[geneid]~-~601089~-","FOXF1"]
["FOXF1","Alveolar capillary dysplasia / misalignment of pulmonary veins","Alveolar capillary dysplasia with pulmonary venous misalignment","Autosomal Dominant","Alveolar capillary dysplasia with pulmonary venous misalignment:Autosomal Recessive","Alveolar capillary dysplasia with pulmonary venous misalignment:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2294[geneid]~-~601089~-","FOXF1"]
["FOXF2","Disorders of sex development with cleft palate","Sexual development;Cleft palate","Risk",null,null,"HIGH","-~-~603250~-","FOXF2"]
["FOXG1","Generalized dystonia, athetosis and parkinsonism","NULL","Need full text PMID 21953941","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2290[geneid]~-~164874~-","FOXG1"]
["FOXG1","Mental retardation","Mental retardation","Autosomal Dominant","Rett's disorder:Autosomal Dominant","Rett's disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2290[geneid]~-~164874~-","FOXG1"]
["FOXG1","Mental retardation & callosum abnormalities","Mental retardation;Corpus callosum abnormalities","Autosomal Dominant","Rett's disorder:Autosomal Dominant","Rett's disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2290[geneid]~-~164874~-","FOXG1"]
["FOXG1","Rett syndrome","Rett's disorder","Autosomal Dominant","Rett's disorder:Autosomal Dominant","Rett's disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2290[geneid]~-~164874~-","FOXG1"]
["FOXH1","Congenital heart defects","Multiple congenital cardiac defects","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8928[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~603621~-","FOXH1"]
["FOXH1","Ventricular septal defect","Ventricular septal defect","Autosomal Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8928[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~603621~-","FOXH1"]
["FOXI1","Pendred syndrome","Pendred's syndrome","Autosomal Dominant","Enlarged Vestibular Aqueduct:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~601093~-","FOXI1"]
["FOXL1","Hypoplastic left heart syndrome","Hypoplastic left heart syndrome","Autosomal Dominant",null,null,"HIGH","-~-~603252~-","FOXL1"]
["FOXL2","Blepharophimosis/ptosis/epicanthus inversus syndrome","Blepharophimosis syndrome","Autosomal Dominant","Blepharophimosis syndrome:Autosomal Dominant$Blepharophimosis syndrome type 1:Autosomal Dominant$Blepharophimosis syndrome type 2:Autosomal Dominant$Premature Ovarian Failure 3:Autosomal Dominant$Premature Ovarian Failure:Autosomal Dominant","Blepharophimosis syndrome:Autosomal Dominant$Premature Ovarian Failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=668[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1441~605597~-","FOXL2"]
["FOXL2","Blepharophimosis/ptosis/epicanthus inversus syndrome","Blepharophimosis syndrome","Autosomal Recessive","Blepharophimosis syndrome:Autosomal Dominant$Blepharophimosis syndrome type 1:Autosomal Dominant$Blepharophimosis syndrome type 2:Autosomal Dominant$Premature Ovarian Failure 3:Autosomal Dominant$Premature Ovarian Failure:Autosomal Dominant","Blepharophimosis syndrome:Autosomal Dominant$Premature Ovarian Failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=668[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1441~605597~-","FOXL2"]
["FOXL2","Premature ovarian failure","Premature ovarian failure","Autosomal Dominant","Blepharophimosis syndrome:Autosomal Dominant$Blepharophimosis syndrome type 1:Autosomal Dominant$Blepharophimosis syndrome type 2:Autosomal Dominant$Premature Ovarian Failure 3:Autosomal Dominant$Premature Ovarian Failure:Autosomal Dominant","Blepharophimosis syndrome:Autosomal Dominant$Premature Ovarian Failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=668[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1441~605597~-","FOXL2"]
["FOXN1","Congenital alopecia with T-cell immunodeficiency","T-cell immunodeficiency, congenital alopecia and nail dystrophy","Autosomal Recessive","T-cell immunodeficiency, congenital alopecia and nail dystrophy:Autosomal Recessive","T-cell immunodeficiency, congenital alopecia and nail dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8456[geneid]~-~600838~-","FOXN1"]
["FOXN1","Foxn1 deficiency","T-cell immunodeficiency, congenital alopecia and nail dystrophy","Autosomal Recessive","T-cell immunodeficiency, congenital alopecia and nail dystrophy:Autosomal Recessive","T-cell immunodeficiency, congenital alopecia and nail dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8456[geneid]~-~600838~-","FOXN1"]
["FOXP1","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Mental retardation with language impairment and autistic features:Autosomal Dominant","Mental retardation with language impairment and autistic features:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27086[geneid]~-~605515~-","FOXP1"]
["FOXP1","Intellectual disability & autism","Intellectual Disability;Autistic Disorder","Autosomal Dominant","Mental retardation with language impairment and autistic features:Autosomal Dominant","Mental retardation with language impairment and autistic features:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27086[geneid]~-~605515~-","FOXP1"]
["FOXP2","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant$Speech Language Disorder 1:Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=93986[geneid]~-~605317~-","FOXP2"]
["FOXP2","Childhood apraxia of speech","Developmental verbal dyspraxia","Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant$Speech Language Disorder 1:Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=93986[geneid]~-~605317~-","FOXP2"]
["FOXP2","Developmental verbal dyspraxia","Developmental verbal dyspraxia","Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant$Speech Language Disorder 1:Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=93986[geneid]~-~605317~-","FOXP2"]
["FOXP2","Left opercular polymicrogyria","Microgyria","Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant$Speech Language Disorder 1:Autosomal Dominant","Developmental verbal dyspraxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=93986[geneid]~-~605317~-","FOXP2"]
["FOXP3","Breast cancer, increased risk","Malignant tumor of breast","Risk","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50943[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1118~300292~-","FOXP3"]
["FOXP3","Diabetes, neonatal","Neonatal diabetes mellitus","X-linked Recessive","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50943[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1118~300292~-","FOXP3"]
["FOXP3","Increased transcription","Parasitic disease","Risk","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50943[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1118~300292~-","FOXP3"]
["FOXP3","IPEX syndrome","Insulin-dependent diabetes mellitus secretory diarrhea syndrome","X-linked Recessive","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","Insulin-dependent diabetes mellitus secretory diarrhea syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50943[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1118~300292~-","FOXP3"]
["FOXRED1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Leigh Syndrome Due To Mitochondrial Complex I Deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55572[geneid]~-~613622~-","FOXRED1"]
["FOXRED1","Mitochondrial encephalopathy, infantile-onset","Juvenile myopathy, encephalopathy, lactic acidosis AND stroke","Autosomal Recessive","Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Leigh Syndrome Due To Mitochondrial Complex I Deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55572[geneid]~-~613622~-","FOXRED1"]
["FPGS","Reduced expression","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~136510~-","FPGS"]
["FRAS1","Fraser syndrome","Cryptophthalmos syndrome","Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80144[geneid]~-~607830~-","FRAS1"]
["FRAS1","Fraser syndrome/Ablepharon macrostomia syndrome","Cryptophthalmos syndrome;Ablepharon macrostomia syndrome","Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80144[geneid]~-~607830~-","FRAS1"]
["FRAS1","Renal agenesis","Renal agenesis","Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80144[geneid]~-~607830~-","FRAS1"]
["FREM1","Bifid nose, renal agenesis & anorectal malformations syndrome","Cleft nose;Renal agenesis;Anorectal anomaly","Autosomal Recessive","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1728~608944~-","FREM1"]
["FREM1","Craniosynostosis, isolated metopic","Trigonocephaly 2","Autosomal Dominant","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1728~608944~-","FREM1"]
["FREM1","Diaphragmatic hernia, congenital","Congenital diaphragmatic hernia","Autosomal Recessive","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1728~608944~-","FREM1"]
["FREM1","Manitoba-oculo-tricho-anal syndrome","Marles Greenberg Persaud syndrome","Autosomal Recessive","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1728~608944~-","FREM1"]
["FREM1","Manitoba-oculo-tricho-anal syndrome with renal agenesis","Marles Greenberg Persaud syndrome;Renal agenesis","Autosomal Recessive","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1728~608944~-","FREM1"]
["FREM1","Manitoba-oculo-tricho-anal syndrome with renal dysplasia","Marles Greenberg Persaud syndrome;Renal dysplasia","Autosomal Recessive","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","Bifid Nose With Or Without Anorectal And Renal Anomalies:Autosomal Recessive$Marles Greenberg Persaud syndrome:Autosomal Recessive$Trigonocephaly 2:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1728~608944~-","FREM1"]
["FREM2","Fraser syndrome","Cryptophthalmos syndrome","Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","HIGH","-~-~608945~-","FREM2"]
["FREM2","Renal agenesis","Renal agenesis","Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","Cryptophthalmos syndrome:Autosomal Recessive$Fraser syndrome:Autosomal Recessive","HIGH","-~-~608945~-","FREM2"]
["FREQ","Autism","NULL","Please asign from PMID 18801879","NULL","NULL","HIGH","-~-~603315~-","NCS1"]
["FREQ","Autism","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~603315~-","FREQ"]
["FRMD7","Nystagmus","Nystagmus","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus 1","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus 1, congenital, X-linked","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus, infantile","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus, infantile periodic alternating","Nystagmus 5, Infantile Periodic Alternating","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus, X-linked","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus, X-linked congenital","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus, X-linked idiopathic congenital","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRMD7","Nystagmus, X-linked infantile","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus 1, congenital, X-linked:X-linked dominant$Nystagmus, infantile periodic alternating, X-linked:X-linked Recessive$Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","Nystagmus:X-linked dominant$Nystagmus:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3822~300628~-","FRMD7"]
["FRY","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~614818~-","FRY"]
["FSCN2","Retinitis pigmentosa, Autosomal Dominant","Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 30:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25794[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~607643~-","FSCN2"]
["FSHB","Follicle-stimulating hormone deficiency","FSH - follicle stimulating hormone deficiency","Autosomal Recessive","FSH - follicle stimulating hormone deficiency:Autosomal Recessive$Follicle-stimulating hormone deficiency, isolated:Autosomal Recessive","FSH - follicle stimulating hormone deficiency:Autosomal Recessive$Follicle-stimulating hormone deficiency, isolated:Autosomal Recessive","HIGH","-~-~136530~-","FSHB"]
["FSHB","Reduced serum FSH","Follicle-stimulating hormone level abnormal","Autosomal Recessive","FSH - follicle stimulating hormone deficiency:Autosomal Recessive$Follicle-stimulating hormone deficiency, isolated:Autosomal Recessive","FSH - follicle stimulating hormone deficiency:Autosomal Recessive$Follicle-stimulating hormone deficiency, isolated:Autosomal Recessive","HIGH","-~-~136530~-","FSHB"]
["FSHR","FSHR activation","Spermatogenesis in the absence of Gonadotropin","Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2492[geneid]~-~136435~-","FSHR"]
["FSHR","FSHR inactivation","Ovarian dysgenesis","Autosomal Recessive","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2492[geneid]~-~136435~-","FSHR"]
["FSHR","Hypergonadotropic hypogonadism","Primary hypogonadism","Autosomal Recessive","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2492[geneid]~-~136435~-","FSHR"]
["FSHR","Hypergonadotropic ovarian failure","Premature ovarian failure","Autosomal Recessive","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2492[geneid]~-~136435~-","FSHR"]
["FSHR","Ovarian hyperstimulation syndrome","Ovarian hyperstimulation syndrome","Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2492[geneid]~-~136435~-","FSHR"]
["FSHR","Primary amenorrhea","Primary physiologic amenorrhea","Autosomal Recessive","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2492[geneid]~-~136435~-","FSHR"]
["FSHR","Secondary amenorrhea","Secondary physiologic amenorrhea","Autosomal Recessive","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","Ovarian dysgenesis:Autosomal Recessive$Gonadal Dysgenesis, 46,XX:Autosomal Recessive$Ovarian hyperstimulation syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2492[geneid]~-~136435~-","FSHR"]
["FTCD","Glutamate formiminotransferase deficiency","Glutamate formiminotransferase deficiency","Autosomal Recessive","Glutamate formiminotransferase deficiency:Autosomal Recessive","Glutamate formiminotransferase deficiency:Autosomal Recessive","HIGH","-~-~606806~-","FTCD"]
["FTH1","Iron overload","Iron overload","Autosomal Dominant","Hemochromatosis:Autosomal Dominant","Hemochromatosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2495[geneid]~-~134770~-","FTH1"]
["FTH1","Parkinson disease","NULL","Negated by PMID 14615048","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2495[geneid]~-~134770~-","FTH1"]
["FTH1","Parkinson disease","NULL","Modifier (no association PMID 14615048)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2495[geneid]~-~134770~-","FTH1"]
["FTH1","Reduced expression","NULL","No association with disease in PMID 16797877","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2495[geneid]~-~134770~-","FTH1"]
["FTH1","Reduced expression","NULL","No particular disorder mentioned","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2495[geneid]~-~134770~-","FTH1"]
["FTL","Altered protein folding","NULL","No association with disease in PMID 17970701","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1141~134790~-","FTL"]
["FTL","Cataract, bilateral","NULL","Need full text PMID 19254706","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1141~134790~-","FTL"]
["FTL","Hyperferritinaemia","Hyperferritinemia, hereditary, with congenital cataracts","Autosomal Dominant","Hyperferritinemia, hereditary, with congenital cataracts:Autosomal Dominant$Neuroferritinopathy:Autosomal Dominant","Hyperferritinemia, hereditary, with congenital cataracts:Autosomal Dominant$Neuroferritinopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1141~134790~-","FTL"]
["FTL","Hyperferritinaemia-cataract syndrome","Hyperferritinemia, hereditary, with congenital cataracts","Autosomal Dominant","Hyperferritinemia, hereditary, with congenital cataracts:Autosomal Dominant$Neuroferritinopathy:Autosomal Dominant","Hyperferritinemia, hereditary, with congenital cataracts:Autosomal Dominant$Neuroferritinopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1141~134790~-","FTL"]
["FTL","L-ferritin deficiency","NULL","No disease associated PMID 15173247","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1141~134790~-","FTL"]
["FTL","Neuroferritinopathy","Neuroferritinopathy","Autosomal Dominant","Hyperferritinemia, hereditary, with congenital cataracts:Autosomal Dominant$Neuroferritinopathy:Autosomal Dominant","Hyperferritinemia, hereditary, with congenital cataracts:Autosomal Dominant$Neuroferritinopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2512[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1141~134790~-","FTL"]
["FTMT","Macular degeneration, age related","Age-related macular degeneration","Autosomal Dominant","Age-related macular degeneration:Autosomal Dominant","Age-related macular degeneration:Autosomal Dominant","HIGH","-~-~608847~-","FTMT"]
["FTO","Growth retardation & multiple malformations","Growth Retardation, Developmental Delay, Coarse Facies, And Early Death","Autosomal Recessive","Growth Retardation, Developmental Delay, Coarse Facies, And Early Death:Autosomal Recessive","Growth Retardation, Developmental Delay, Coarse Facies, And Early Death:Autosomal Recessive","HIGH","-~-~610966~-","FTO"]
["FTSJ1","Mental retardation","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked 9:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24140[geneid]~-~300499~-","FTSJ1"]
["FUCA1","Altered p53 binding","Drug Response","Pharmacogenetic","Fucosidosis:Autosomal Recessive","Fucosidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2517[geneid]~-~612280~-","FUCA1"]
["FUCA1","Fucosidosis","Fucosidosis","Autosomal Recessive","Fucosidosis:Autosomal Recessive","Fucosidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2517[geneid]~-~612280~-","FUCA1"]
["FUS","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Recessive","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive:Autosomal Recessive$Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2521[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~137070~-","FUS"]
["FUS","Amyotrophic lateral sclerosis, juvenile with basophilic inclusion","Amyotrophic lateral sclerosis","Autosomal Recessive","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive:Autosomal Recessive$Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2521[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~137070~-","FUS"]
["FUS","Essential tremor","Essential tremor","Autosomal Dominant","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive:Autosomal Recessive$Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2521[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~137070~-","FUS"]
["FUS","Frontotemporal dementia, behavioural variant","Frontotemporal dementia","Autosomal Dominant","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive:Autosomal Recessive$Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2521[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~137070~-","FUS"]
["FUS","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Autosomal Dominant","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive:Autosomal Recessive$Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2521[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~137070~-","FUS"]
["FUS","Motor neuron disease, lower","Lower motor neuron disease","Autosomal Dominant","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive:Autosomal Recessive$Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Essential tremor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2521[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~137070~-","FUS"]
["FUT1","H antigen, Bombay phenotype","Blood group antigen H","Autosomal Recessive","Blood group antigen H:Autosomal Recessive","Blood group antigen H:Autosomal Recessive","HIGH","-~-~211100~-","FUT1"]
["FUT1","H antigen, para-Bombay phenotype","Blood group Para-Bombay","Autosomal Recessive","Blood group antigen H:Autosomal Recessive","Blood group antigen H:Autosomal Recessive","HIGH","-~-~211100~-","FUT1"]
["FUT1","H antigen, Reunion phenotype","Blood group O>h< Bombay Reunion type","Autosomal Recessive","Blood group antigen H:Autosomal Recessive","Blood group antigen H:Autosomal Recessive","HIGH","-~-~211100~-","FUT1"]
["FUT2","Fucosyltransferase deficiency","Blood group O(h) Bombay","Autosomal Recessive","Blood group antigen H:Autosomal Recessive","Blood group antigen H:Autosomal Recessive","HIGH","-~-~182100~-","FUT2"]
["FUT2","Fucosyltransferase deficiency","Blood group Para-Bombay","Autosomal Recessive","Blood group antigen H:Autosomal Recessive","Blood group antigen H:Autosomal Recessive","HIGH","-~-~182100~-","FUT2"]
["FUT2","Non-secretor phenotype","Galactoside 2-alpha-L-fucosyltransferase 2","Autosomal Recessive","Blood group antigen H:Autosomal Recessive","Blood group antigen H:Autosomal Recessive","HIGH","-~-~182100~-","FUT2"]
["FUT3","Lewis antigen, absence","Lewis system antigen","Autosomal Dominant","Lewis system antigen:Autosomal Recessive","Lewis system antigen:Autosomal Recessive","HIGH","-~-~111100~-","FUT3"]
["FUT6","Fucosyltransferase deficiency","Blood group Para-Bombay;Blood group O(h) Bombay","Autosomal Recessive","Fucosyltransferase 6 deficiency:Autosomal Recessive","Fucosyltransferase 6 deficiency:Autosomal Recessive","HIGH","-~-~136836~-","FUT6"]
["FUT7","Fucosyltransferase deficiency","Ulcer;Diabetes mellitus type 2;Osteoporosis;Spondyloarthropathy;Sjoegren's syndrome","Autosomal Recessive",null,null,"HIGH","-~-~602030~-","FUT7"]
["FUZ","Neural tube defects","Neural tube defect","Autosomal Recessive","Neural tube defect:Autosomal Dominant","Neural tube defect:Autosomal Dominant","HIGH","-~-~610622~-","FUZ"]
["FXN","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Recessive","Friedreich's ataxia:Autosomal Recessive$Friedreich Ataxia with Retained Reflexes:Autosomal Recessive","Friedreich's ataxia:Autosomal Recessive$Friedreich Ataxia with Retained Reflexes:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1281~606829~-","FXN"]
["FXN","Friedreich ataxia","Friedreich's ataxia","Autosomal Recessive","Friedreich's ataxia:Autosomal Recessive$Friedreich Ataxia with Retained Reflexes:Autosomal Recessive","Friedreich's ataxia:Autosomal Recessive$Friedreich Ataxia with Retained Reflexes:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1281~606829~-","FXN"]
["FXYD2","Hypomagnesaemia, renal","Isolated familial renal hypomagnesemia","Autosomal Dominant","Isolated familial renal hypomagnesemia:Autosomal Dominant$Hypomagnesemia 2, renal:Autosomal Dominant$Primary hypomagnesemia:Autosomal Dominant","Primary hypomagnesemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=486[geneid]~-~601814~-","FXYD2"]
["FYCO1","Congenital cataracts","Congenital cataract","Autosomal Recessive","Cataract:Autosomal Recessive","Cataract:Autosomal Recessive","HIGH","-~-~607182~-","FYCO1"]
["FYCO1","Paediatric cataract","Juvenile cataract","Autosomal Recessive","Cataract:Autosomal Recessive","Cataract:Autosomal Recessive","HIGH","-~-~607182~-","FYCO1"]
["FZD1","Altered transcription factor binding","Bone structure","Modifier",null,null,"HIGH","-~-~603408~-","FZD1"]
["FZD3","Neural tube defects","Neural tube defect","Risk",null,null,"HIGH","-~-~606143~-","FZD3"]
["FZD4","Exudative vitreoretinopathy","Familial exudative vitreoretinopathy","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Retinopathy of prematurity:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Retinopathy of prematurity:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1147~604579~-","FZD4"]
["FZD4","Retinopathy of prematurity","Retinopathy of prematurity","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Retinopathy of prematurity:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Retinopathy of prematurity:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1147~604579~-","FZD4"]
["FZD6","Isolated nail dysplasia","Nail dysplasia, isolated congenital","Autosomal Recessive","Nail dysplasia, isolated congenital:Autosomal Recessive","Nail dysplasia, isolated congenital:Autosomal Recessive","HIGH","-~-~603409~-","FZD6"]
["FZD6","Nail dystrophy","Dystrophia unguium","Autosomal Recessive","Nail dysplasia, isolated congenital:Autosomal Recessive","Nail dysplasia, isolated congenital:Autosomal Recessive","HIGH","-~-~603409~-","FZD6"]
["FZD6","Neural tube defects","Neural tube defect","Autosomal Dominant","Nail dysplasia, isolated congenital:Autosomal Recessive","Nail dysplasia, isolated congenital:Autosomal Recessive","HIGH","-~-~603409~-","FZD6"]
["G6PC","Glycogen storage disease 1a","Glycogen storage disease","Autosomal Recessive","Glycogen storage disease:Autosomal Recessive$Glycogen storage disease type Ia:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1312~613742~-","G6PC"]
["G6PC2","Hyperinsulinaemia","NULL","Need full text PMID 19125775","NULL","NULL","HIGH","-~-~608058~-","G6PC2"]
["G6PC2","Hyperinsulinaemia","NULL","Risk (The PMID 19125775 has no abstract associated. Cannot determine inheritance mode. Full text article required)","NULL","NULL","HIGH","-~-~608058~-","G6PC2"]
["G6PC2","Permanent neonatal diabetes","NULL","Need full text PMID 19125775","NULL","NULL","HIGH","-~-~608058~-","G6PC2"]
["G6PC2","Permanent neonatal diabetes","NULL","Risk (The PMID 19125775 has no abstract associated. Cannot determine inheritance mode. Full text article required)","NULL","NULL","HIGH","-~-~608058~-","G6PC2"]
["G6PC3","Dursun syndrome","Dursun Syndrome","Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia, Severe Congenital, Autosomal Recessive 4:Autosomal Recessive$Neutropenia:Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92579[geneid]~-~611045~-","G6PC3"]
["G6PC3","Neutropaenia","Neutropenia","Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia, Severe Congenital, Autosomal Recessive 4:Autosomal Recessive$Neutropenia:Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92579[geneid]~-~611045~-","G6PC3"]
["G6PC3","Neutropaenia with cardiac and urogenital malformations","Neutropenia;Cardiac defects;Genitourinary congenital anomalies","Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia, Severe Congenital, Autosomal Recessive 4:Autosomal Recessive$Neutropenia:Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92579[geneid]~-~611045~-","G6PC3"]
["G6PC3","Neutropaenia, congenital","Congenital neutropenia","Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia, Severe Congenital, Autosomal Recessive 4:Autosomal Recessive$Neutropenia:Autosomal Recessive","Dursun Syndrome:Autosomal Recessive$Neutropenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92579[geneid]~-~611045~-","G6PC3"]
["G6PD","Glucose-6-phosphate dehydrogenase deficiency","Glucosephosphate Dehydrogenase Deficiency","X-linked Recessive","Favism:X-linked and highly polymorphic$Deficiency of glucose-6-phosphate dehydrogenase:X-linked and highly polymorphic","Favism:X-linked and highly polymorphic$Deficiency of glucose-6-phosphate dehydrogenase:X-linked and highly polymorphic","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2539[geneid]~-~305900~-","G6PD"]
["GAA","Acid maltase deficiency","Deficiency of glucan 1,4-alpha-glucosidase","Autosomal Recessive","Glycogen storage disease, type II:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2548[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1261~606800~-","GAA"]
["GAA","Glycogen storage disease 2","Glycogen storage disease, type II","Autosomal Recessive","Glycogen storage disease, type II:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2548[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1261~606800~-","GAA"]
["GAA","Glycogen storage disease 2, infantile-onset","Glycogen storage disease, type II","Autosomal Recessive","Glycogen storage disease, type II:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2548[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1261~606800~-","GAA"]
["GAA","Glycogen storage disease 2, juvenile-onset","Glycogen storage disease, type II","Autosomal Recessive","Glycogen storage disease, type II:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2548[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1261~606800~-","GAA"]
["GAA","Glycogen storage disease 2, late-onset","Glycogen storage disease, type II","Autosomal Recessive","Glycogen storage disease, type II:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2548[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1261~606800~-","GAA"]
["GABRA1","Childhood absence epilepsy","Childhood absence epilepsy","Autosomal Dominant","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2554[geneid]~-~137160~-","GABRA1"]
["GABRA1","Epilepsy, idiopathic","Idiopathic generalized epilepsy","Autosomal Dominant","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2554[geneid]~-~137160~-","GABRA1"]
["GABRA1","Epilepsy, idiopathic generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2554[geneid]~-~137160~-","GABRA1"]
["GABRA1","Myoclonic epilepsy, juvenile","Idiopathic myoclonic epilepsy","Autosomal Dominant","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2554[geneid]~-~137160~-","GABRA1"]
["GABRA6","Alcohol dependence","Alcohol dependence","Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","HIGH","-~-~137143~-","GABRA6"]
["GABRA6","Idiopathic epilepsy, generalised","Idiopathic generalized epilepsy","Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","Childhood absence epilepsy:Risk$Juvenile myoclonic epilepsy:Risk","HIGH","-~-~137143~-","GABRA6"]
["GABRB3","Chronic insomnia","Chronic Insomnia","Autosomal Dominant","Insomnia:Autosomal Dominant","Insomnia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2562[geneid]~-~137192~-","GABRB3"]
["GABRG2","Epilepsy, childhood absence with febrile seizures","Childhood absence epilepsy;Febrile convulsions","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, Type 3:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Febrile Convulsions, Familial, 8:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2566[geneid]~-~137164~-","GABRG2"]
["GABRG2","Epilepsy, idiopathic generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, Type 3:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Febrile Convulsions, Familial, 8:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2566[geneid]~-~137164~-","GABRG2"]
["GABRG2","Febrile seizures","Febrile convulsions","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, Type 3:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Febrile Convulsions, Familial, 8:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2566[geneid]~-~137164~-","GABRG2"]
["GABRG2","Generalized epilepsy with febrile seizures plus","Idiopathic generalized epilepsy;Febrile convulsions","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, Type 3:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Febrile Convulsions, Familial, 8:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2566[geneid]~-~137164~-","GABRG2"]
["GABRG2","Myoclonic epilepsy of infancy","Idiopathic myoclonic epilepsy","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, Type 3:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Febrile Convulsions, Familial, 8:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2566[geneid]~-~137164~-","GABRG2"]
["GABRG2","Seizures, generalized tonic-clonic","Generalized-onset seizures","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, Type 3:Autosomal Dominant$Idiopathic generalized epilepsy:Autosomal Dominant$Febrile Convulsions, Familial, 8:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","Idiopathic generalized epilepsy:Autosomal Dominant$Febrile convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2566[geneid]~-~137164~-","GABRG2"]
["GAD1","Cerebral palsy, spastic, symmetric, Autosomal Recessive","Spastic cerebral palsy","Autosomal Recessive","Spastic cerebral palsy:Autosomal Recessive$Cerebral Palsy, Spastic Quadriplegic, 1:Autosomal Recessive","Spastic cerebral palsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2571[geneid]~-~605363~-","GAD1"]
["GAD1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Spastic cerebral palsy:Autosomal Recessive$Cerebral Palsy, Spastic Quadriplegic, 1:Autosomal Recessive","Spastic cerebral palsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2571[geneid]~-~605363~-","GAD1"]
["GAK","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~602052~-","GAK"]
["GAL3ST4","Pectus excavatum","Pectus excavatum","Risk",null,null,"HIGH","-~-~608235~-","GAL3ST4"]
["GALC","Krabbe disease","Galactosylceramide beta-galactosidase deficiency","Autosomal Recessive","Krabbe Disease:Autosomal Recessive$Galactosylceramide beta-galactosidase deficiency:Autosomal Recessive","Krabbe Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2581[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1238~606890~-","GALC"]
["GALE","Galactosaemia epimerase deficiency","UDPglucose-4-epimerase deficiency","Autosomal Recessive","Galactose Epimerase Deficiency:Autosomal Recessive$UDPglucose-4-epimerase deficiency:Autosomal Recessive","Galactose Epimerase Deficiency:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK51671~606953~-","GALE"]
["GALK1","Cataract, age related","Deficiency of galactokinase;Cataract","Autosomal Recessive","Deficiency of galactokinase:Autosomal Recessive","Deficiency of galactokinase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2584[geneid]~-~604313~-","GALK1"]
["GALK1","Cataract, congenital","Congenital cataract","Autosomal Recessive","Deficiency of galactokinase:Autosomal Recessive","Deficiency of galactokinase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2584[geneid]~-~604313~-","GALK1"]
["GALK1","Galactokinase deficiency","Deficiency of galactokinase","Autosomal Recessive","Deficiency of galactokinase:Autosomal Recessive","Deficiency of galactokinase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2584[geneid]~-~604313~-","GALK1"]
["GALNS","Mucopolysaccharidosis IV","Morquio syndrome","Autosomal Recessive","Morquio syndrome:Autosomal Recessive$Mucopolysaccharidosis Type IVA:Autosomal Recessive","Morquio syndrome:Autosomal Recessive$Mucopolysaccharidosis Type IVA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2588[geneid]~-~612222~-","GALNS"]
["GALNS","Mucopolysaccharidosis IVa","Mucopolysaccharidosis, MPS-IV-A","Autosomal Recessive","Morquio syndrome:Autosomal Recessive$Mucopolysaccharidosis Type IVA:Autosomal Recessive","Morquio syndrome:Autosomal Recessive$Mucopolysaccharidosis Type IVA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2588[geneid]~-~612222~-","GALNS"]
["GALNT12","Colon cancer","Malignant tumor of colon","Autosomal Dominant","Malignant tumor of colon:Risk$Colorectal cancer:Risk","Malignant tumor of colon:Risk$Colorectal cancer:Risk","HIGH","-~-~610290~-","GALNT12"]
["GALNT12","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Malignant tumor of colon:Risk$Colorectal cancer:Risk","Malignant tumor of colon:Risk$Colorectal cancer:Risk","HIGH","-~-~610290~-","GALNT12"]
["GALNT2","Higher plasma HDL cholesterol","Plasma HDL cholesterol level, higher","Risk",null,null,"HIGH","-~-~602274~-","GALNT2"]
["GALNT2","Improved plasma triglyceride clearance","Plasma triglyceride level","Decreased Risk",null,null,"HIGH","-~-~602274~-","GALNT2"]
["GALNT3","Hyperostosis-hyperphosphatemia syndrome","Hyperostosis-hyperphosphatemia syndrome","Autosomal Recessive","Tumoral Calcinosis, Hyperphosphatemic, Familial:Autosomal Recessive$Tumoral calcinosis:Autosomal Recessive","Tumoral calcinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2591[geneid]~-~601756~-","GALNT3"]
["GALNT3","Tumoural calcinosis","Tumoral Calcinosis, Hyperphosphatemic, Familial","Autosomal Recessive","Tumoral Calcinosis, Hyperphosphatemic, Familial:Autosomal Recessive$Tumoral calcinosis:Autosomal Recessive","Tumoral calcinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2591[geneid]~-~601756~-","GALNT3"]
["GALNTL4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~615136~-","GALNT18"]
["GALT","Galactosaemia","Galactosemia","Autosomal Recessive","Galactosemia:Autosomal Recessive","Galactosemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2592[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1518~606999~-","GALT"]
["GALT","Galactosaemia, Duarte variant","Classical galactosemia, homozygous Duarte-type","Autosomal Recessive","Galactosemia:Autosomal Recessive","Galactosemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2592[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1518~606999~-","GALT"]
["GAMT","Guanidinoacetate methyltransferase deficiency","Deficiency of guanidinoacetate methyltransferase","Autosomal Recessive","Deficiency of guanidinoacetate methyltransferase:Autosomal Recessive","Deficiency of guanidinoacetate methyltransferase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2593[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~601240~-","GAMT"]
["GAN","Giant axonal neuropathy","Giant axonal neuropathy","Autosomal Recessive","Giant axonal neuropathy:Autosomal Recessive","Giant axonal neuropathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8139[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1136~605379~-","GAN"]
["GAP43","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~162060~-","GAP43"]
["GARS","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, Type 2D","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2D:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["GARS","Charcot-Marie-Tooth disease 2d","Charcot-Marie-Tooth disease, Type 2D","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2D:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["GARS","Charcot-Marie-Tooth disease 2d and distal spinal muscular atrophy","Charcot-Marie-Tooth disease, Type 2D","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2D:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["GARS","Charcot-Marie-Tooth disease 2d and distal spinal muscular atrophy","Distal spinal muscular atrophy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2D:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["GARS","Hereditary motor neuropathy","Neuronopathy, Distal Hereditary Motor, Type V","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2D:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["GARS","Motor neuropathy, distal hereditary, type V","Neuronopathy, Distal Hereditary Motor, Type V","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2D:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["GARS","Spinal muscular atrophy","Distal spinal muscular atrophy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2D:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2617[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["GAS1","Holoprosencephaly","Holoprosencephaly sequence","Modifier",null,null,"HIGH","-~-~139185~-","GAS1"]
["GAS1","Holoprosencephaly-like phenotype","Holoprosencephaly sequence","Modifier",null,null,"HIGH","-~-~139185~-","GAS1"]
["GATA1","Diamond-Blackfan anaemia","Congenital hypoplastic anemia","X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1364~305371~-","GATA1"]
["GATA1","Dyserythropoietic anaemia and thrombocytopaenia","Congenital dyserythropoietic anemia;Refractory thrombocytopenia","X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1364~305371~-","GATA1"]
["GATA1","Macrocytic anaemia with variable neutropaenia","Macrocytic anemia;Neutropenic disorder","X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1364~305371~-","GATA1"]
["GATA1","Porphyria, congenital erythropoietic","Congenital erythropoietic porphyria","X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1364~305371~-","GATA1"]
["GATA1","Thrombocytopaenia 1","Thrombocytopenia 1","X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","Congenital dyserythropoietic anemia:X-linked Recessive$Anemia, X-linked, with/without neutropenia and/or platelet abnormalities:X-linked Recessive$Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis:X-linked Recessive$Thrombocytopenia:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1364~305371~-","GATA1"]
["GATA2","Chronic myeloid leukaemia, progression to blast crisis","Blastic phase chronic myeloid leukemia","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","Dendritic cell, monocyte, B & NK lymphoid deficiency","Combined immunodeficiency disease","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","Lymphoedema, primary with myelodysplasia","Lymphedema praecox;Myelodysplasia of the spinal cord","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","Monocytopenia & mycobacterial infection syndrome","Combined immunodeficiency disease","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","Myelodysplastic syndrome","Myelodysplastic syndrome","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","Myelodysplastic syndrome / acute myeloid leukaemia","Acute myeloid leukemia with multilineage dysplasia","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","Myelodysplastic syndrome / acute myeloid leukaemia & immunodeficiency","Acute myeloid leukemia with multilineage dysplasia","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","Myelodysplastic syndrome / acute myeloid leukaemia with lymphoedema","Acute myeloid leukemia with multilineage dysplasia;Lymphedema praecox","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA2","NK-cell deficiency","Combined immunodeficiency disease","Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","Combined immunodeficiency disease:Autosomal Dominant$Emberger syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2624[geneid]~-~137295~-","GATA2"]
["GATA3","Hypoparathyroidism and deafness","Barakat syndrome","Autosomal Dominant","Barakat syndrome:Autosomal Dominant","Barakat syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2625[geneid]~-~131320~-","GATA3"]
["GATA3","Hypoparathyroidism, deafness and renal dysplasia","Barakat syndrome","Autosomal Dominant","Barakat syndrome:Autosomal Dominant","Barakat syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2625[geneid]~-~131320~-","GATA3"]
["GATA4","46,XY disorder of sex development","46, XY Disorders of Sex Development","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect 2:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2626[geneid]~-~600576~-","GATA4"]
["GATA4","Atrial fibrillation","Atrial Fibrillation","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect 2:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2626[geneid]~-~600576~-","GATA4"]
["GATA4","Atrial septal defect","Atrial septal defect","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect 2:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2626[geneid]~-~600576~-","GATA4"]
["GATA4","Congenital diaphragmatic hernia","Congenital diaphragmatic hernia","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect 2:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2626[geneid]~-~600576~-","GATA4"]
["GATA4","Congenital heart defects","Congenital heart defect","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect 2:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2626[geneid]~-~600576~-","GATA4"]
["GATA4","Lone atrial fibrillation","Lone atrial fibrillation","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect 2:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2626[geneid]~-~600576~-","GATA4"]
["GATA4","Ventricular septal defect","Ventricular septal defect","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect 2:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2626[geneid]~-~600576~-","GATA4"]
["GATA5","Atrial fibrillation","Atrial fibrillation","Risk","Atrial fibrillation:Risk","Atrial fibrillation:Risk","HIGH","-~-~611496~-","GATA5"]
["GATA5","Atrioventricular septal defect","Atrioventricular septal defect","Risk","Atrioventricular septal defect:Risk","Atrioventricular septal defect:Risk","HIGH","-~-~611496~-","GATA5"]
["GATA5","Bicuspid aortic valve","Bicuspid aortic valve","Risk",null,null,"HIGH","-~-~611496~-","GATA5"]
["GATA5","Lone atrial fibrillation","Lone atrial fibrillation","Autosomal Dominant",null,null,"HIGH","-~-~611496~-","GATA5"]
["GATA5","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant",null,null,"HIGH","-~-~611496~-","GATA5"]
["GATA5","Ventriculoseptal defect","Ventricular septal abnormality","Autosomal Dominant",null,null,"HIGH","-~-~611496~-","GATA5"]
["GATA6","Atrial fibrillation","Atrial Fibrillation","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Atrioventricular septum defects","Atrioventricular septal defect","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Congenital heart disease","Congenital heart disease","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Diabetes","Diabetes mellitus","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Diabetes mellitus, permanent neonatal","Permanent neonatal diabetes mellitus","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Diabetes with pancreatic agenesis","Diabetes mellitus;Pancreatic Agenesis, Congenital","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Heart defects and diabetes, permanent neonatal","Congenital heart defect;Permanent neonatal diabetes mellitus","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Pancreatic agenesis","Pancreatic Agenesis, Congenital","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Pancreatic hypoplasia & diabetes","Pancreatic Agenesis, Congenital;Diabetes mellitus","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Persistent truncus arteriosus","Common truncus arteriosus","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATA6","Ventricular septal defect","Ventricular septal defect","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Atrioventricular septal defect:Autosomal Dominant$Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease:Autosomal Dominant$Common arterial trunk (truncus arteriosus):Autosomal Recessive$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2627[geneid]~-~601656~-","GATA6"]
["GATAD1","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive","HIGH","-~-~614518~-","GATAD1"]
["GATAD2B","Intellectual disability","Intellectual Disability","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~614998~-","GATAD2B"]
["GATM","Arginine:glycine amidinotransferase deficiency","Arginine:Glycine Amidinotransferase Deficiency","Autosomal Recessive","Arginine:Glycine Amidinotransferase Deficiency:Autosomal Recessive","Arginine:Glycine Amidinotransferase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2628[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~602360~-","GATM"]
["GBA","Gaucher disease","Gaucher Disease, Perinatal Lethal","Autosomal Recessive","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Gaucher disease 1","Gaucher Disease, Type 1","Autosomal Recessive","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Gaucher disease 2","Gaucher Disease, Type 2","Autosomal Recessive","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Gaucher disease 3","Gaucher Disease, Type 3","Autosomal Recessive","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Gaucher disease 3B","Gaucher Disease, Type 3","Autosomal Recessive","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Gaucher disease/Parkinson disease","Gaucher Disease;Parkinson's disease","Autosomal Recessive","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Lewy body dementia","Diffuse Lewy body disease","Autosomal Dominant","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Lewy body dementia/Alzheimer disease","Diffuse Lewy body disease;Alzheimer's disease","Autosomal Dominant","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Parkinson disease","Parkinson's disease","Autosomal Dominant","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA","Parkinson disease with dementia","Dementia associated with Parkinson's Disease","Autosomal Dominant","Gaucher Disease, Perinatal Lethal:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Gaucher Disease, Type 1:Autosomal Recessive$Gaucher Disease, Type 2:Autosomal Recessive$Gaucher Disease, Type 3:Autosomal Recessive$Gaucher Disease, Type IIIC:Autosomal Recessive","Gaucher Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1269~606463~-","GBA"]
["GBA2","Cerebellar ataxia with spasticity","Cerebellar Ataxia;Spasticity","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~609471~-","GBA2"]
["GBA2","Spastic paraplegia 46","Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~609471~-","GBA2"]
["GBE1","Glycogen storage disease 4","Glycogen storage disease, type IV","Autosomal Recessive","Glycogen storage disease, type IV:Autosomal Recessive$Polyglucosan Body Disease, Adult Form:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2632[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK115333$http://www.ncbi.nlm.nih.gov/books/NBK5300~607839~-","GBE1"]
["GBE1","Glycogen storage disease 4, neonatal","Glycogen storage disease, type IV","Autosomal Recessive","Glycogen storage disease, type IV:Autosomal Recessive$Polyglucosan Body Disease, Adult Form:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2632[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK115333$http://www.ncbi.nlm.nih.gov/books/NBK5300~607839~-","GBE1"]
["GBE1","Glycogen storage disease 4, non-lethal neuromuscular","Glycogen storage disease, type IV","Autosomal Recessive","Glycogen storage disease, type IV:Autosomal Recessive$Polyglucosan Body Disease, Adult Form:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2632[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK115333$http://www.ncbi.nlm.nih.gov/books/NBK5300~607839~-","GBE1"]
["GBE1","Polyglucosan body disease, adult","Polyglucosan Body Disease, Adult Form","Autosomal Recessive","Glycogen storage disease, type IV:Autosomal Recessive$Polyglucosan Body Disease, Adult Form:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2632[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK115333$http://www.ncbi.nlm.nih.gov/books/NBK5300~607839~-","GBE1"]
["GCDH","Glutaricacidaemia I","Glutaric aciduria, type 1","Autosomal Recessive","Glutaric aciduria, type 1:Autosomal Recessive","Glutaric aciduria, type 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2639[geneid]~-~608801~-","GCDH"]
["GCGR","Hyperglucagonaemia and alpha cell hyperplasia","Excessive glucagon secretion;Pancreatic endocrine cell hyperplasia;Islet cell carcinoma","Autosomal Recessive","Diabetes mellitus, noninsulin-dependent:Risk","Diabetes mellitus, noninsulin-dependent:Risk","HIGH","-~-~138033~-","GCGR"]
["GCH1","Decreased expression","Essential hypertension","Risk","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","Dystonia","Dystonia","Autosomal Dominant","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","Dystonia, dopa-responsive","Dystonia, Dopa-responsive","Autosomal Dominant","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","Dystonia, paroxysmal exercise-induced","Dystonia 18","Autosomal Dominant","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","Dystonia, progressive","Dystonia, progressive","Autosomal Dominant","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","GTP-cyclohydrolase I deficiency","GTP cyclohydrolase I deficiency","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","GTP-cyclohydrolase I deficiency without hyperphenylalaninemia","Segawa syndrome, Autosomal Recessive","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","Hyperphenylalaninaemia","Hyperphenylalaninemia","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","Segawa syndrome, Autosomal Recessive","Segawa syndrome, Autosomal Recessive","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCH1","Tetrahydrobiopterin deficiency","Tetrahydrobiopterin deficiency","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Dominant$Dystonia, Dopa-responsive:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive$GTP cyclohydrolase I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2643[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1508~600225~-","GCH1"]
["GCK","Diabetes","Diabetes mellitus","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes mellitus","Diabetes mellitus","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes mellitus, neonatal","Neonatal diabetes mellitus","Autosomal Recessive","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes mellitus, post transplant","NULL","Need full text PMID 11106831","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes, gestational","Gestational diabetes mellitus","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes, MODY2","Diabetes mellitus Autosomal Dominant type II","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes, NIDDM","Diabetes mellitus type 2","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Diabetes, type 2, early-onset","Diabetes mellitus type 2","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Hyperglycaemia","Hyperglycemia","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Hyperinsulinism","Hyperinsulinism","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Hypoglycaemia","Hypoglycemia","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCK","Hypoglycaemia, hyperinsulinaemic","Hyperinsulinemic hypoglycemia, familial, 3","Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia, familial, 3:Autosomal Dominant$Diabetes mellitus Autosomal Dominant type II:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Gestational diabetes mellitus:Autosomal Dominant$Diabetes mellitus, type 2:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2645[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~138079~-","GCK"]
["GCKR","GCKR variant","NULL","No disease association PMID 12739015","NULL","NULL","HIGH","-~-~600842~-","GCKR"]
["GCKR","Hypertriglyceridaemia","Hyperlipidemia","Autosomal Dominant","Plasma fasting glucose level:Modifier","Plasma fasting glucose level:Modifier","HIGH","-~-~600842~-","GCKR"]
["GCLC","Gamma-glutamylcysteine synthetase deficiency","Glutamate-cysteine ligase deficiency","Autosomal Recessive","Glutamate-cysteine ligase deficiency:Autosomal Recessive","Glutamate-cysteine ligase deficiency:Autosomal Recessive","HIGH","-~-~606857~-","GCLC"]
["GCM2","Hypoparathyroidism","Hypoparathyroidism","Autosomal Recessive","Hypoparathyroidism familial isolated:Autosomal Recessive","Hypoparathyroidism familial isolated:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9247[geneid]~-~603716~-","GCM2"]
["GCNT2","Congenital cataract","Congenital cataract","Autosomal Recessive","I(adult) phenotype:Autosomal Recessive$Cataract:Autosomal Recessive$Blood group antigen D(II):Autosomal Recessive","I(adult) phenotype:Autosomal Recessive$Cataract:Autosomal Recessive$Blood group antigen D(II):Autosomal Recessive","HIGH","-~-~600429~-","GCNT2"]
["GCNT2","I blood group variation","i(adult) phenotype","Autosomal Recessive","I(adult) phenotype:Autosomal Recessive$Cataract:Autosomal Recessive$Blood group antigen D(II):Autosomal Recessive","I(adult) phenotype:Autosomal Recessive$Cataract:Autosomal Recessive$Blood group antigen D(II):Autosomal Recessive","HIGH","-~-~600429~-","GCNT2"]
["GCNT2","Paediatric cataract","Juvenile cataract","Risk","I(adult) phenotype:Autosomal Recessive$Cataract:Autosomal Recessive$Blood group antigen D(II):Autosomal Recessive","I(adult) phenotype:Autosomal Recessive$Cataract:Autosomal Recessive$Blood group antigen D(II):Autosomal Recessive","HIGH","-~-~600429~-","GCNT2"]
["GCOM1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","GCOM1"]
["GCSH","Hyperglycinaemia, transient neonatal","Transient neonatal hyperglycinemia","Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2653[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1357~238330~-","GCSH"]
["GDAP1","Charcot-Marie-Tooth disease 1","Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, type II","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease 2C","Charcot-Marie-Tooth disease, Type 2C","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease 2K","Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease 2K, axonal","Charcot-Marie-Tooth Disease, Type 2k","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease 4A","Charcot-Marie-Tooth disease, Type 4A, axonal form","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease 4A, early onset axonal","Charcot-Marie-Tooth disease, Type 4A, axonal form","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease, Autosomal Dominant","Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease, Autosomal Recessive","Charcot-Marie-Tooth disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Charcot-Marie-Tooth disease, axonal","Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Demyelinating peripheral neuropathy","Peripheral demyelinating neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDAP1","Neuropathy, early onset","Neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Dominant$Charcot-Marie-Tooth Disease, Type 2K:Autosomal Recessive$Charcot-Marie-Tooth disease, axonal, Type 2G:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate A:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4A, axonal form:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54332[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1539$http://www.ncbi.nlm.nih.gov/books/NBK1285~606598~-","GDAP1"]
["GDF15","Altered p53 binding","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~605312~-","GDF15"]
["GDF15","Congenital heart defects","NULL","Not listed in HGMD or OMIM","NULL","NULL","HIGH","-~-~605312~-","GDF15"]
["GDF15","Congenital heart defects","NULL","No record in HGMD for this disorder","NULL","NULL","HIGH","-~-~605312~-","GDF15"]
["GDF15","Right atrial isomerism","NULL","Not listed in HGMD or OMIM","NULL","NULL","HIGH","-~-~605312~-","GDF15"]
["GDF15","Right atrial isomerism","NULL","No record in HGMD for this disorder","NULL","NULL","HIGH","-~-~605312~-","GDF15"]
["GDF3","Ocular & skeletal abnormalities","Klippel-Feil syndrome 3, Autosomal Dominant;Microphthalmia, isolated 7;Microphthalmia, isolated, with coloboma 6","Autosomal Dominant","Klippel-Feil syndrome 3, Autosomal Dominant:Autosomal Dominant$Microphthalmia with coloboma 6:Autosomal Dominant$Microphthalmia, isolated 7:Autosomal Dominant$Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","HIGH","-~-~606522~-","GDF3"]
["GDF5","Acromesomelic dysplasia Hunter-Thompson type","Acromesomelic dysplasia Hunter-Thompson type","Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Brachydactyly, type A1","Brachydactyly type A1","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Brachydactyly, type A2","Brachydactyly type A2","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Brachydactyly, type C","Brachydactyly type C","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Brachydactyly, type C with angel-shaped phalanx","Brachydactyly type C","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Chondrodysplasia","Chondrodysplasia","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Chondrodysplasia, Grebe type","Grebe syndrome","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","DuPan syndrome","Fibular hypoplasia and complex brachydactyly","Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Increased expression","Osteoarthritis","Risk","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Multiple synostosis syndrome","Multiple synostosis syndrome","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF5","Symphalangism","Syndactyly","Autosomal Dominant","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly type A1:Autosomal Recessive$Brachydactyly type A2:Autosomal Dominant$Brachydactyly type C:Autosomal Dominant$Grebe syndrome:Autosomal Recessive$Chondrodysplasia, Grebe type:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Symphalangism, proximal, 1B:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","Acromesomelic dysplasia Hunter-Thompson type:Autosomal Recessive$Grebe syndrome:Autosomal Recessive$Fibular hypoplasia and complex brachydactyly:Autosomal Recessive$Multiple synostoses syndrome 2:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Brachydactyly:Autosomal Dominant$Brachydactyly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8200[geneid]~-~601146~-","GDF5"]
["GDF6","Anophthalmia, bilateral","Anophthalmos","Autosomal Dominant","Klippel Feil syndrome dominant type:Autosomal Dominant$Microphthalmia with coloboma 6: Autosomal Dominant$Microphthalmia, isolated 4:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive$Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","Leber's amaurosis:Autosomal Recessive$Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=392255[geneid]~-~601147~-","GDF6"]
["GDF6","Klippel-Feil syndrome","Klippel Feil syndrome dominant type","Autosomal Dominant","Klippel Feil syndrome dominant type:Autosomal Dominant$Microphthalmia with coloboma 6: Autosomal Dominant$Microphthalmia, isolated 4:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive$Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","Leber's amaurosis:Autosomal Recessive$Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=392255[geneid]~-~601147~-","GDF6"]
["GDF6","Ocular & skeletal abnormalities","Microphthalmia, Isolated, with Coloboma 4;Microphthalmia, Isolated, with Coloboma;Leber's amaurosis;","Autosomal Dominant","Klippel Feil syndrome dominant type:Autosomal Dominant$Microphthalmia with coloboma 6: Autosomal Dominant$Microphthalmia, isolated 4:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive$Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","Leber's amaurosis:Autosomal Recessive$Microphthalmos:Autosomal Dominant$Klippel-Feil syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=392255[geneid]~-~601147~-","GDF6"]
["GDF9","Diminished ovarian reserve","Female infertility due to diminished ovarian reserve","Risk",null,null,"HIGH","-~-~601918~-","GDF9"]
["GDF9","DZ twinning","Dizygotic twins","Risk",null,null,"HIGH","-~-~601918~-","GDF9"]
["GDF9","Polycystic ovary syndrome","Polycystic ovaries","Risk",null,null,"HIGH","-~-~601918~-","GDF9"]
["GDF9","Premature ovarian failure","Premature ovarian failure","Autosomal Dominant",null,null,"HIGH","-~-~601918~-","GDF9"]
["GDI1","Mental retardation, non-specific, X-linked","Mental retardation","X-linked Dominant","Mental retardation:X-linked semidominant","Mental retardation:X-linked semidominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2664[geneid]~-~300104~-","GDI1"]
["GDNF","Central alveolar hypoventilation syndrome","Central alveolar hypoventilation syndrome","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1439~600837~-","GDNF"]
["GDNF","Colonic aganglionosis","Total colonic aganglionosis","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1439~600837~-","GDNF"]
["GDNF","Hirschsprung disease","Hirschsprung's disease","Modifier","Central alveolar hypoventilation syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1439~600837~-","GDNF"]
["GDNF","Medullary sponge kidney","Medullary sponge kidney","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1439~600837~-","GDNF"]
["GDNF","Renal agenesis","Renal agenesis","Risk","Central alveolar hypoventilation syndrome:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1439~600837~-","GDNF"]
["GFAP","Alexander disease","Alexander's disease","Autosomal Dominant","Alexander's disease:Autosomal Dominant","Alexander's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2670[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1172~137780~-","GFAP"]
["GFER","Myopathy, cataract & combined respiratory-chain deficiency","Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay","Autosomal Recessive","Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay:Autosomal Recessive","Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2671[geneid]~-~600924~-","GFER"]
["GFI1","Neutropaenia, congenital","Congenital neutropenia","Autosomal Dominant","Neutropenia, Nonimmune Chronic Idiopathic, Adult:Autosomal Dominant$Neutropenia, Severe Congenital, Autosomal Dominant 2:Autosomal Dominant","Neutropenia, Nonimmune Chronic Idiopathic, Adult:Autosomal Dominant$Neutropenia:Autosomal Dominant","HIGH","-~-~600871~-","GFI1"]
["GFI1","Neutropaenia, severe chronic","Neutropenia, severe chronic","Autosomal Dominant","Neutropenia, Nonimmune Chronic Idiopathic, Adult:Autosomal Dominant$Neutropenia, Severe Congenital, Autosomal Dominant 2:Autosomal Dominant","Neutropenia, Nonimmune Chronic Idiopathic, Adult:Autosomal Dominant$Neutropenia:Autosomal Dominant","HIGH","-~-~600871~-","GFI1"]
["GFI1B","Haematological disease","Leukemia, disease","Risk",null,null,"HIGH","-~-~604383~-","GFI1B"]
["GFM1","Combined oxidative phosphorylation deficiency","Combined Oxidative Phosphorylation Deficiency 1","Autosomal Recessive","Combined Oxidative Phosphorylation Deficiency 1:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=85476[geneid]~-~606639~-","GFM1"]
["GFM2","Atorvastatin sensitivity","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~606544~-","GFM2"]
["GFM2","Wolcott-Rallison syndrome","Wolcott-Rallison dysplasia","Risk",null,null,"HIGH","-~-~606544~-","GFM2"]
["GFPT1","Congenital myasthenic syndrome, limb-girdle","Congenital myasthenia","Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","Familial infantile myasthenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2673[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~138292~-","GFPT1"]
["GFRA1","Central hypoventilation syndrome","Central alveolar hypoventilation syndrome","Risk",null,null,"HIGH","-~-~601496~-","GFRA1"]
["GFRA1","Urinary tract malformation","Congenital anomaly of the urinary tract proper","Risk",null,null,"HIGH","-~-~601496~-","GFRA1"]
["GGCX","Gamma-glutamyl carboxylase deficiency","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency","Autosomal Recessive","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:Autosomal Recessive$Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1:Autosomal Recessive","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2677[geneid]~-~137167~-","GGCX"]
["GGCX","Pseudoxanthoma elasticum","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency","Autosomal Recessive","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:Autosomal Recessive$Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1:Autosomal Recessive","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2677[geneid]~-~137167~-","GGCX"]
["GGCX","Vitamin-K-dependent coagulation factor deficiency","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1","Autosomal Recessive","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:Autosomal Recessive$Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1:Autosomal Recessive","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2677[geneid]~-~137167~-","GGCX"]
["GH1","Altered gene expression","Body height measure","Modifier","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Diabetes mellitus, type 1","NULL","Need full text PMID 11725827","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Growth hormone deficiency","Pituitary dwarfism 1","Autosomal Recessive","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Growth hormone deficiency 1B","Isolated Growth Hormone Deficiency, Type IB","Autosomal Recessive","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Growth hormone deficiency 2","Growth hormone deficiency","Autosomal Dominant","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Hypertension","Essential hypertension","Risk","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Kowarski syndrome","Kowarski syndrome","Autosomal Dominant","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Reduced expression","Growth hormone neurosecretory dysfunction","Autosomal Dominant","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Short stature","Short stature disorder","Autosomal Recessive","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH1","Stroke","Cerebrovascular accident","Risk","Pituitary dwarfism 1:Autosomal Recessive$Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Autosomal Dominant isolated somatotropin deficiency:Autosomal Dominant$Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","Somatotropin deficiency:Autosomal Dominant$Kowarski syndrome:Autosomal Dominant$Kowarski syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2688[geneid]~-~139250~-","GH1"]
["GH2","Growth hormone deficiency","NULL","Cannot determine from PMID 2035535","NULL","NULL","HIGH","-~-~139240~-","GH2"]
["GH2","Growth hormone deficiency","NULL","No disease associated.PMID 2035535","NULL","NULL","HIGH","-~-~139240~-","GH2"]
["GHR","Altered HDL cholesterol level in hypercholesterolaemia","Familial hypercholesterolemia","Modifier","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2690[geneid]~-~600946~-","GHR"]
["GHR","Elevated serum levels of growth hormone-binding protein","somatotropin-binding protein level","Autosomal Dominant","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2690[geneid]~-~600946~-","GHR"]
["GHR","Growth hormone insensitivity","Laron-type isolated somatotropin defect","Autosomal Recessive","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2690[geneid]~-~600946~-","GHR"]
["GHR","Laron dwarfism","Laron-type isolated somatotropin defect","Autosomal Recessive","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2690[geneid]~-~600946~-","GHR"]
["GHR","Short stature","Short stature disorder","Autosomal Dominant","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Laron dwarfism:Autosomal Recessive$Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2690[geneid]~-~600946~-","GHR"]
["GHRHR","Growth hormone deficiency ","Growth hormone deficiency","Autosomal Recessive","Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Somatotropin deficiency:Autosomal Recessive","Somatotropin deficiency:Autosomal Recessive","HIGH","-~-~139191~-","GHRHR"]
["GHRHR","Growth hormone deficiency 1B","Isolated Growth Hormone Deficiency, Type IB","Autosomal Recessive","Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Somatotropin deficiency:Autosomal Recessive","Somatotropin deficiency:Autosomal Recessive","HIGH","-~-~139191~-","GHRHR"]
["GHRHR","Growth hormone deficiency, isolated","Isolated somatotropin deficiency","Autosomal Recessive","Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Somatotropin deficiency:Autosomal Recessive","Somatotropin deficiency:Autosomal Recessive","HIGH","-~-~139191~-","GHRHR"]
["GHRHR","Increased tumour sensitivity to GHRH","growth hormone-releasing hormone receptor activity","Autosomal Dominant","Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Somatotropin deficiency:Autosomal Recessive","Somatotropin deficiency:Autosomal Recessive","HIGH","-~-~139191~-","GHRHR"]
["GHRHR","Pituitary dwarfism","Pituitary dwarfism","Autosomal Recessive","Isolated Growth Hormone Deficiency, Type IB:Autosomal Recessive$Somatotropin deficiency:Autosomal Recessive","Somatotropin deficiency:Autosomal Recessive","HIGH","-~-~139191~-","GHRHR"]
["GHSR","Constitutional delay of growth and puberty","Constitutional delay of growth and puberty","Autosomal Dominant","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","-~-~601898~-","GHSR"]
["GHSR","Decreased receptor expression","Obesity","Risk","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","-~-~601898~-","GHSR"]
["GHSR","Growth hormone deficiency, isolated","Isolated somatotropin deficiency","Autosomal Dominant","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","-~-~601898~-","GHSR"]
["GHSR","Obesity","NULL","No association found with disease PMID 14715843","NULL","NULL","HIGH","-~-~601898~-","GHSR"]
["GHSR","Short normal stature","Short to normal stature","Autosomal Dominant","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","-~-~601898~-","GHSR"]
["GHSR","Short stature","Short stature disorder","Autosomal Dominant","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","Short stature:Autosomal Dominant$Short stature:Autosomal Recessive","HIGH","-~-~601898~-","GHSR"]
["GIF","Intrinsic factor deficiency","Congenital deficiency of intrinsic factor","Autosomal Recessive","Congenital deficiency of intrinsic factor:Autosomal Recessive$Intrinsic factor deficiency:Autosomal Recessive","Intrinsic factor deficiency:Autosomal Recessive","HIGH","-~-~609342~-","GIF"]
["GIGYF2","Parkinson disease","Parkinson's disease","Autosomal Dominant","Parkinson's disease:Autosomal Dominant$Parkinson Disease 11:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~-~612003~-","GIGYF2"]
["GIMAP8","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=155038[geneid]~-~-~-","GIMAP8"]
["GIPC3","Hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 15:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~608792~-","GIPC3"]
["GIPC3","Nonsyndromic hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 15:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~608792~-","GIPC3"]
["GIPC3","Sensorineural hearing loss","Sensorineural hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 15:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~608792~-","GIPC3"]
["GIPR","Diabetes, NIDDM","NULL","No association found with disease PMID 8922354","NULL","NULL","HIGH","-~-~137241~-","GIPR"]
["GIPR","Diabetes, NIDDM","NULL","No association PMID 8922354","NULL","NULL","HIGH","-~-~137241~-","GIPR"]
["GJA1","Attenuated phenotype in glaucoma","Glaucoma","Modifier","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Craniometaphyseal dysplasia","Craniometaphyseal dysplasia","Autosomal Recessive","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Deafness","Deafness","Autosomal Recessive","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Deafness, Autosomal Recessive","Deafness","Autosomal Recessive","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis","Oculodentodigital syndrome","Autosomal Dominant","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Hallerman-Streiff/ODDD syndrome","Hallermann-Streiff syndrome;Oculodentodigital syndrome","Autosomal Recessive","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Heart malformations","Atrioventricular septal defect 3;Hypoplastic left heart syndrome","Autosomal Recessive","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Oculodentodigital dysplasia","Oculodentodigital syndrome","Autosomal Dominant","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Recessive","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA1","Syndactyly, type 3","Syndactyly, type 3","Autosomal Dominant","Atrioventricular septal defect 3:Autosomal Recessive$Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Craniometaphyseal dysplasia, Autosomal Recessive type:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital Dysplasia, Autosomal Recessive:Autosomal Recessive$Syndactyly, type 3:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","Atrioventricular septal defect:Autosomal Recessive$Craniometaphyseal dysplasia:Autosomal Recessive$Hypoplastic left heart syndrome:Multifactorial inheritance$Oculodentodigital syndrome:Autosomal Dominant$Oculodentodigital syndrome:Autosomal Recessive$Syndactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2697[geneid]~-~121014~-","GJA1"]
["GJA3","Cataract","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~121015~-","GJA3"]
["GJA3","Cataract, nuclear pulverulent & posterior polar","Nuclear cataract;Congenital posterior polar cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~121015~-","GJA3"]
["GJA3","Cataract, zonular pulverulent","Cataract, Zonular Pulverulent 1","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~121015~-","GJA3"]
["GJA3","Congenital cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~121015~-","GJA3"]
["GJA3","Congenital cataract, Coppock-like","Cataract, Coppock-Like","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~121015~-","GJA3"]
["GJA3","Coralliform cataract","Cataract, Crystalline Coralliform","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~121015~-","GJA3"]
["GJA3","Nuclear punctate cataract","Punctate cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~121015~-","GJA3"]
["GJA5","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Atrial standstill:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Atrial standstill:Autosomal Dominant","HIGH","-~-~121013~-","GJA5"]
["GJA5","Heart block type 1","Hereditary bundle branch system defect;Atrial standstill","Risk","Atrial fibrillation:Autosomal Dominant$Atrial standstill:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Atrial standstill:Autosomal Dominant","HIGH","-~-~121013~-","GJA5"]
["GJA5","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Atrial standstill:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Atrial standstill:Autosomal Dominant","HIGH","-~-~121013~-","GJA5"]
["GJA8","Cataract","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, Autosomal Dominant","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, congenital","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, congenital & microcornea","Cataract microcornea syndrome","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, congenital nuclear","Nuclear cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, full moon with Y-sutural opacities","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, lamellar pulverulent","Cataract, Pulverulent","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, lamellar pulverulent","Congenital lamellar cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, perinuclear","Congenital lamellar cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, triangular","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, zonular nuclear pulverulent","Cataract, Pulverulent","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, zonular nuclear pulverulent","Cataract, Zonular Central Nuclear","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract, zonular pulverulent","Cataract, Zonular Pulverulent 1","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Cataract-microcornea syndrome","Cataract microcornea syndrome","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJA8","Congenital cataract & microcornea","Cataract microcornea syndrome","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~600897~-","GJA8"]
["GJB1","Central nervous system dysfunction","Central nervous system dysfunction in newborn","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease 1","Charcot-Marie-Tooth disease, type I","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, type II","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease 2 with deafness","Charcot-Marie-Tooth disease, type II;Deafness","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease with pyramidal signs","Charcot-Marie-Tooth disease, Type 2H","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease, axonal","Charcot-Marie-Tooth disease","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease, demyelinating","Charcot-Marie-Tooth disease, type I","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease, intermediate","Charcot-Marie-Tooth disease","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease, X-linked","Charcot-Marie-Tooth disease, X-linked, 1","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Charcot-Marie-Tooth disease, X-linked type 1","Charcot-Marie-Tooth disease, X-linked, 1","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Demyelinating polyneuropathy & motor axonal loss","Peripheral demyelinating neuropathy;Motor axonal neuropathy","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Inflammatory demyelinating neuropathy","Peripheral demyelinating neuropathy","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Leukoencephalopathy with white matter oedema","Leukoencephalopathy","X-linked Dominant","Charcot-Marie-Tooth neuropathy, X-linked dominant, 1:X-linked dominant","Charcot-Marie-Tooth neuropathy, X-linked dominant, 1:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Motor-sensory neuropathy type 1X","Charcot-Marie-Tooth disease, type I","X-linked Dominant","Charcot-Marie-Tooth neuropathy, X-linked dominant, 1:X-linked dominant","Charcot-Marie-Tooth neuropathy, X-linked dominant, 1:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Polyneuropathy, late-onset","Polyneuropathy","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB1","Transient central nervous system symptom in CMT1X disease","Charcot-Marie-Tooth disease, X-linked, 1","X-linked Dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","X-linked hereditary motor and sensory neuropathy:X-linked dominant$Charcot-Marie-Tooth disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2705[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1374~304040~-","GJB1"]
["GJB2","Deafness","Deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Deafness and palmoplantar hyperkeratosis","Keratoderma palmoplantar deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Deafness and palmoplantar keratoderma","Keratoderma palmoplantar deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Deafness, Autosomal Dominant 3","Deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Deafness, Autosomal Recessive 1","Deafness","Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Deafness, nonsyndromic sensorineural","Deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Deafness, nonsyndromic sensorineural","Deafness","Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Deafness, unilateral","Unilateral deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Enlarged vestibular aqueduct","Enlarged vestibular aqueduct","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Focal palmoplantar keratoderma","Palmoplantar Keratoderma, Nonepidermolytic, Focal","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Hearing impairment, bilateral sensorineural","Sensorineural hearing loss, bilateral","Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Hearing impairment, nonsyndromic","Deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Hearing impairment, nonsyndromic","Deafness","Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Hearing loss","Hearing loss","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Hearing loss, non-syndromic","Hearing loss","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Hearing loss, non-syndromic, Autosomal Dominant","Hearing loss","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Ichthyosiform erythroderma, corneal involvement & deafness","Ichthyosiform erythroderma, corneal involvement, deafness","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Keratitis-ichthyosis-deafness syndrome","Keratitis ichthyosis and deafness syndrome","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Knuckle pads, hyperkeratosis and deafness","Knuckle pads, deafness AND leukonychia syndrome","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Knuckle pads, leukonychia, sensorineural deafness","Knuckle pads, deafness AND leukonychia syndrome","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Sensorineural hearing loss","Sensorineural hearing loss","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB2","Vohwinkel syndrome","Mutilating keratoderma","Autosomal Dominant","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Deafness, Autosomal Dominant 3A:Autosomal Dominant$Deafness, Autosomal Recessive 1A:Autosomal Recessive$HID Syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Vohwinkel syndrome:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Knuckle pads, deafness AND leukonychia syndrome:Autosomal Dominant$Hystrix ichthyosis with deafness:Autosomal Dominant$Keratitis ichthyosis and deafness syndrome:Autosomal Dominant$Keratoderma palmoplantar deafness:Autosomal Dominant$Mutilating keratoderma:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2706[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272~121011~-","GJB2"]
["GJB3","Deafness","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 2B:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Digenic dominant$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2707[geneid]~-~603324~-","GJB3"]
["GJB3","Deafness, non-syndromic, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 2B:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Digenic dominant$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2707[geneid]~-~603324~-","GJB3"]
["GJB3","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant 2B:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Digenic dominant$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2707[geneid]~-~603324~-","GJB3"]
["GJB3","Erythrokeratodermia variabilis","Erythrokeratodermia variabilis","Autosomal Dominant","Deafness, Autosomal Dominant 2B:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Digenic dominant$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2707[geneid]~-~603324~-","GJB3"]
["GJB3","Erythrokeratodermia variabilis","Erythrokeratodermia variabilis","Autosomal Recessive","Deafness, Autosomal Dominant 2B:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Digenic dominant$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2707[geneid]~-~603324~-","GJB3"]
["GJB3","Nonsyndromic hearing loss","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 2B:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Digenic dominant$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2707[geneid]~-~603324~-","GJB3"]
["GJB3","Peripheral neuropathy & hearing impairment","Peripheral nerve disease;Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 2B:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Autosomal Recessive$Deafness, digenic, GJB2/GJB3:Digenic dominant$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Dominant, with peripheral neuropathy:Autosomal Dominant$Deafness:Autosomal Recessive$Erythrokeratodermia variabilis:Autosomal Dominant$Erythrokeratodermia variabilis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2707[geneid]~-~603324~-","GJB3"]
["GJB4","Deafness","Deafness","Autosomal Dominant","Keratoderma palmoplantaris transgrediens:Autosomal Dominant$Keratoderma palmoplantaris transgrediens:Autosomal Recessive","Keratoderma palmoplantaris transgrediens:Autosomal Dominant$Keratoderma palmoplantaris transgrediens:Autosomal Recessive","HIGH","-~-~605425~-","GJB4"]
["GJB4","Erythrokeratodermia variabilis","Erythrokeratodermia variabilis","Autosomal Dominant","Keratoderma palmoplantaris transgrediens:Autosomal Dominant$Keratoderma palmoplantaris transgrediens:Autosomal Recessive","Keratoderma palmoplantaris transgrediens:Autosomal Dominant$Keratoderma palmoplantaris transgrediens:Autosomal Recessive","HIGH","-~-~605425~-","GJB4"]
["GJB6","Clouston syndrome","Hidrotic ectodermal dysplasia syndrome","Autosomal Dominant","Deafness, Autosomal Dominant 3B:Autosomal Dominant$Deafness, Autosomal Recessive 1B:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Digenic dominant$Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10804[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272$http://www.ncbi.nlm.nih.gov/books/NBK1200~604418~-","GJB6"]
["GJB6","Deafness","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant 3B:Autosomal Dominant$Deafness, Autosomal Recessive 1B:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Digenic dominant$Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10804[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272$http://www.ncbi.nlm.nih.gov/books/NBK1200~604418~-","GJB6"]
["GJB6","Deafness, Autosomal Dominant 3","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 3B:Autosomal Dominant$Deafness, Autosomal Recessive 1B:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Digenic dominant$Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10804[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272$http://www.ncbi.nlm.nih.gov/books/NBK1200~604418~-","GJB6"]
["GJB6","Hearing loss, non-syndromic","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 3B:Autosomal Dominant$Deafness, Autosomal Recessive 1B:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Digenic dominant$Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10804[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272$http://www.ncbi.nlm.nih.gov/books/NBK1200~604418~-","GJB6"]
["GJB6","Hidrotic ectodermal dysplasia","Hidrotic ectodermal dysplasia syndrome","Autosomal Dominant","Deafness, Autosomal Dominant 3B:Autosomal Dominant$Deafness, Autosomal Recessive 1B:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Digenic dominant$Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10804[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272$http://www.ncbi.nlm.nih.gov/books/NBK1200~604418~-","GJB6"]
["GJB6","Palmoplantar keratoderma with hearing loss","Keratoderma palmoplantar deafness","Autosomal Dominant","Deafness, Autosomal Dominant 3B:Autosomal Dominant$Deafness, Autosomal Recessive 1B:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Autosomal Recessive$Deafness, digenic GJB2/GJB6:Digenic dominant$Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Hidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10804[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1536$http://www.ncbi.nlm.nih.gov/books/NBK1272$http://www.ncbi.nlm.nih.gov/books/NBK1200~604418~-","GJB6"]
["GJC2","Hypomyelinating leukodystrophy, type 2","Leukodystrophy, Hypomyelinating, 2","Autosomal Recessive","Leukodystrophy, Hypomyelinating, 2:Autosomal Recessive$Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia 44, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57165[geneid]~-~608803~-","GJC2"]
["GJC2","Lymphoedema","Lymphedema","Autosomal Dominant","Leukodystrophy, Hypomyelinating, 2:Autosomal Recessive$Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia 44, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57165[geneid]~-~608803~-","GJC2"]
["GJC2","Pelizaeus-Merzbacher-like disease","Pelizaeus-Merzbacher-like disease, Autosomal Recessive, 2","Autosomal Recessive","Leukodystrophy, Hypomyelinating, 2:Autosomal Recessive$Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia 44, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57165[geneid]~-~608803~-","GJC2"]
["GJC2","Secondary lymphoedema","Chronic acquired lymphedema","Autosomal Dominant","Leukodystrophy, Hypomyelinating, 2:Autosomal Recessive$Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia 44, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57165[geneid]~-~608803~-","GJC2"]
["GJC2","Spastic paraplegia","Spastic paraplegia","Autosomal Recessive","Leukodystrophy, Hypomyelinating, 2:Autosomal Recessive$Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia 44, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Leukodystrophy:Autosomal Recessive$Lymphedema:Autosomal Dominant$Spastic Paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57165[geneid]~-~608803~-","GJC2"]
["GJC3","Deafness","Deafness","Risk","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~611925~-","GJC3"]
["GJC3","Hearing loss, non-syndromic","Hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~611925~-","GJC3"]
["GK","Glycerol kinase deficiency","Deficiency of glycerol kinase","X-linked Recessive","Deficiency of glycerol kinase:X-linked dominant","Deficiency of glycerol kinase:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2710[geneid]~-~300474~-","GK"]
["GLA","Cardiomyopathy, hypertrophic","NULL","No association with disease PMID 22336178","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1292~300644~-","GLA"]
["GLA","Fabry disease","Fabry's disease","X-linked Dominant","Fabry's disease:X-linked dominant","Fabry's disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1292~300644~-","GLA"]
["GLA","Fabry disease, atypical variant","Fabry's disease","X-linked Dominant","Fabry's disease:X-linked dominant","Fabry's disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1292~300644~-","GLA"]
["GLA","Fabry disease, renal variant","Fabry's disease","X-linked Dominant","Fabry's disease:X-linked dominant","Fabry's disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1292~300644~-","GLA"]
["GLA","Increased transcription","NULL","Not listed in HGMD or OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1292~300644~-","GLA"]
["GLA","Parkinson disease","NULL","Not listed in HGMD or OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2717[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1292~300644~-","GLA"]
["GLB1","Gangliosidosis GM1","GM1 gangliosidosis","Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2720[geneid]~-~611458~-","GLB1"]
["GLB1","Gangliosidosis GM1 / Morquio disease B","GM1 gangliosidosis;Mucopolysaccharidosis type IVB","Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2720[geneid]~-~611458~-","GLB1"]
["GLB1","Gangliosidosis GM1, infantile","Infantile GM1 gangliosidosis","Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2720[geneid]~-~611458~-","GLB1"]
["GLB1","Gangliosidosis GM1, juvenile","Juvenile GM1 gangliosidosis","Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2720[geneid]~-~611458~-","GLB1"]
["GLB1","Morquio disease B","Mucopolysaccharidosis type IVB","Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2720[geneid]~-~611458~-","GLB1"]
["GLB1","Neuronal affection","GM1 gangliosidosis","Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","Infantile GM1 gangliosidosis:Autosomal Recessive$Juvenile GM1 gangliosidosis:Autosomal Recessive$Adult GM1 gangliosidosis:Autosomal Recessive$Mucopolysaccharidosis type IVB:Autosomal Recessive$Morquio B Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2720[geneid]~-~611458~-","GLB1"]
["GLCCI1","Reduced response to glucocorticoids in asthmatics","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~614283~-","GLCCI1"]
["GLDC","Hyperglycinaemia, non-ketotic","Non-ketotic hyperglycinemia","Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2731[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1357~238300~-","GLDC"]
["GLDC","Hyperglycinaemia, transient neonatal","Transient neonatal hyperglycinemia","Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2731[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1357~238300~-","GLDC"]
["GLDC","Neural tube defects","Neural tube defect","Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","Non-ketotic hyperglycinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2731[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1357~238300~-","GLDC"]
["GLE1","Dimelia, attenuated","Dimelia","Autosomal Recessive","Lethal Arthrogryposis With Anterior Horn Cell Disease:Autosomal Recessive$Lethal congenital contracture syndrome 1:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","Lethal Arthrogryposis With Anterior Horn Cell Disease:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","HIGH","-~-~603371~-","GLE1"]
["GLE1","Lethal arthrogryposis with anterior horn cell disease","Lethal Arthrogryposis With Anterior Horn Cell Disease","Autosomal Recessive","Lethal Arthrogryposis With Anterior Horn Cell Disease:Autosomal Recessive$Lethal congenital contracture syndrome 1:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","Lethal Arthrogryposis With Anterior Horn Cell Disease:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","HIGH","-~-~603371~-","GLE1"]
["GLE1","Lethal congenital contracture syndrome 1","Lethal congenital contracture syndrome 1","Autosomal Recessive","Lethal Arthrogryposis With Anterior Horn Cell Disease:Autosomal Recessive$Lethal congenital contracture syndrome 1:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","Lethal Arthrogryposis With Anterior Horn Cell Disease:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","HIGH","-~-~603371~-","GLE1"]
["GLI2","Cleft lip","Cleft lip","Risk","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Craniofacial anomalies","Craniofacial Abnormalities","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Holoprosencephaly","Holoprosencephaly 9","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies","Holoprosencephaly 9","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Holoprosencephaly with heminasal aplasia & orbital anomalies","Holoprosencephaly 9","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Holoprosencephaly, lobar","Lobar holoprosencephaly","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Hypopituitarism","Hypopituitarism","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Hypopituitarism & ectopic posterior pituitary lobe","Hypopituitarism","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Hypopituitarism and/or post-axial polydactyly","Hypopituitarism","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI2","Multiple pituitary hormone deficiency","Pituitary hormone deficiency","Autosomal Dominant","Holoprosencephaly 9:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~165230~-","GLI2"]
["GLI3","Acrocallosal syndrome","Acrocallosal Syndrome","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Broad thumbs, postaxial polydactyly & variable syndactyly of hands/feet","Polydactyly, Postaxial;Syndactyly","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Digital anomalies","Polydactyly;Syndactyly","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Greig cephalopolysyndactyly syndrome","Greig cephalopolysyndactyly syndrome","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Metopic craniosynostosis","Interfrontal craniofaciosynostosis","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Oral-facial-digital syndrome","Oral-facial-digital syndrome","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Pallister-Hall syndrome","Pallister-Hall syndrome","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Pallister-Hall syndrome with genital abnormalities","Pallister-Hall syndrome","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Postaxial polydactyly A","Polydactyly, Postaxial","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Postaxial polydactyly A/B","Polydactyly, Postaxial","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Postaxial polydactyly B","Postaxial Polydactyly, Type B","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Preaxial polydactyly","Radial polydactyly","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Preaxial polydactyly IV","Polydactyly, preaxial 4","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Sub-Greig cephalopolysyndactyly syndrome","Greig cephalopolysyndactyly syndrome","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLI3","Sub-Pallister-Hall syndrome","Pallister-Hall syndrome","Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Postaxial Polydactyly, Type B:Autosomal Dominant$Polydactyly, preaxial 4:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","Greig cephalopolysyndactyly syndrome:Autosomal Dominant$Pallister-Hall syndrome:Autosomal Dominant$Polydactyly, Postaxial:Autosomal Dominant$Radial polydactyly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2737[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1446$http://www.ncbi.nlm.nih.gov/books/NBK1465~165240~-","GLI3"]
["GLIS2","Nephronophthisis","Nephronophthisis","Autosomal Recessive","Nephronophthisis 7:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Nephronophthisis:Autosomal Recessive","HIGH","-~-~608539~-","GLIS2"]
["GLIS3","Neonatal diabetes & congenital hypothyroidism","Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism","Autosomal Recessive","Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:Autosomal Recessive","Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=169792[geneid]~-~610192~-","GLIS3"]
["GLMN","Glomuvenous malformations","Glomus vagale tumors","Autosomal Dominant","Glomus vagale tumors:Autosomal Dominant","Glomus vagale tumors:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11146[geneid]~-~601749~-","GLMN"]
["GLO1","Carbonyl stress in schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~138750~-","GLO1"]
["GLP1R","Reduced agonist responsiveness","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~138032~-","GLP1R"]
["GLRA1","Hyperekplexia","Hyperexplexia","Autosomal Dominant","Hyperexplexia:Autosomal Dominant$Hyperexplexia:Autosomal Recessive$Hyperexplexia hereditary:Autosomal Dominant$Hyperexplexia hereditary:Autosomal Recessive","Hyperexplexia:Autosomal Dominant$Hyperexplexia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2741[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~138491~-","GLRA1"]
["GLRA1","Hyperekplexia","Hyperexplexia","Autosomal Recessive","Hyperexplexia:Autosomal Dominant$Hyperexplexia:Autosomal Recessive$Hyperexplexia hereditary:Autosomal Dominant$Hyperexplexia hereditary:Autosomal Recessive","Hyperexplexia:Autosomal Dominant$Hyperexplexia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2741[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~138491~-","GLRA1"]
["GLRA1","Hyperekplexia and mental retardation","Hyperexplexia;Mental retardation","Autosomal Recessive","Hyperexplexia:Autosomal Dominant$Hyperexplexia:Autosomal Recessive$Hyperexplexia hereditary:Autosomal Dominant$Hyperexplexia hereditary:Autosomal Recessive","Hyperexplexia:Autosomal Dominant$Hyperexplexia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2741[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~138491~-","GLRA1"]
["GLRA4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","GLRA4"]
["GLRB","Hyperekplexia","Hyperexplexia","Autosomal Recessive","Hyperekplexia:Autosomal Recessive","Hyperekplexia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2743[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~138492~-","GLRB"]
["GLRX5","Pyridoxine-refractory sideroblastic anaemia","Autosomal-linked pyridoxine refractory sideroblastic anemia","Autosomal Recessive","Autosomal-linked pyridoxine refractory sideroblastic anemia:Autosomal Recessive","Autosomal-linked pyridoxine refractory sideroblastic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51218[geneid]~-~609588~-","GLRX5"]
["GLUD1","Hyperinsulinism","Hyperinsulinism","Autosomal Dominant","Hyperinsulinemic hypoglycemia, familial, 6:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~138130~-","GLUD1"]
["GLUD1","Hyperinsulinism hyperammonaemia syndrome","Hyperinsulinemic hypoglycemia, familial, 6","Autosomal Dominant","Hyperinsulinemic hypoglycemia, familial, 6:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~138130~-","GLUD1"]
["GLUD1","Hyperinsulinism-hyperammonaemia","Hyperinsulinemic hypoglycemia, familial, 6","Autosomal Dominant","Hyperinsulinemic hypoglycemia, familial, 6:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~138130~-","GLUD1"]
["GLUL","Glutamine deficiency","Glutamine deficiency, congenital","Autosomal Recessive","Glutamine deficiency, congenital:Autosomal Recessive","Glutamine deficiency, congenital:Autosomal Recessive","HIGH","-~-~138290~-","GLUL"]
["GLYCTK","D-glyceric aciduria","D-Glyceric aciduria","Autosomal Recessive","D-glyceric aciduria:Autosomal Recessive","D-glyceric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=132158[geneid]~-~610516~-","GLYCTK"]
["GM2A","Gangliosidosis GM2","GM2 gangliosidosis","Autosomal Recessive","AB Variant GM2 Gangliosidosis:Autosomal Recessive$Tay-Sachs disease, variant AB:Autosomal Recessive","AB Variant GM2 Gangliosidosis:Autosomal Recessive$Tay-Sachs disease, variant AB:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2760[geneid]~-~613109~-","GM2A"]
["GMPPB","Muscle-eye-brain disease and/or Fukuyama congenital muscular dystrophy-like","Muscle-eye-brain disease, congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy type 2:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29925[geneid]~-~615320~-","GMPPB"]
["GMPPB","Muscular dystrophy with cerebellar involvement","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy type 2:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29925[geneid]~-~615320~-","GMPPB"]
["GMPPB","Muscular dystrophy with mental retardation","Muscular Dystrophy, Congenital, Type 1D","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy type 2:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29925[geneid]~-~615320~-","GMPPB"]
["GMPPB","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy type 2:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29925[geneid]~-~615320~-","GMPPB"]
["GNA11","Hypercalcaemia, hypocalciuric type 2","Hypocalciuric hypercalcemia, familial, type 2","Autosomal Dominant","Hypocalciuric hypercalcemia, familial, type 2:Autosomal Dominant$Hypocalcemia:Autosomal Dominant","Hypocalcemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2767[geneid]~-~139313~-","GNA11"]
["GNA11","Hypocalcaemia","Hypocalcemia","Autosomal Dominant","Hypocalciuric hypercalcemia, familial, type 2:Autosomal Dominant$Hypocalcemia:Autosomal Dominant","Hypocalcemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2767[geneid]~-~139313~-","GNA11"]
["GNA11","Hypoparathyroidism","Hypoparathyroidism","Autosomal Dominant","Hypocalciuric hypercalcemia, familial, type 2:Autosomal Dominant$Hypocalcemia:Autosomal Dominant","Hypocalcemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2767[geneid]~-~139313~-","GNA11"]
["GNAI3","Auriculocondylar syndrome","Auriculo-condylar syndrome","Autosomal Dominant","Auriculo-condylar syndrome:Autosomal Dominant","Auriculo-condylar syndrome:Autosomal Dominant","HIGH","-~-~139370~-","GNAI3"]
["GNAL","Dystonia, primary torsion","Primary torsion dystonia","Autosomal Dominant","Dystonia:Autosomal Dominant","Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2774[geneid]~-~139312~-","GNAL"]
["GNAL","Dystonia, primary, adult-onset","Torsion dystonia 7","Autosomal Dominant","Dystonia:Autosomal Dominant","Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2774[geneid]~-~139312~-","GNAL"]
["GNAQ","Blue nevus of skin","NULL","Autosomal Dominant (Not Listed by HGMD; Listed in OMIM 600998)","NULL","NULL","HIGH","-~-~600998~-","GNAQ"]
["GNAQ","Decreased transcription","Polycystic ovaries","Modifier","Capillary malformation:Autosomal Dominant$Sturge-Weber Syndrome:Autosomal Dominant","Capillary malformation:Autosomal Dominant$Sturge-Weber Syndrome:Autosomal Dominant","HIGH","-~-~600998~-","GNAQ"]
["GNAQ","Neoplasm of uveal tract","NULL","Autosomal Dominant (Not Listed by HGMD; Listed in OMIM 600998)","NULL","NULL","HIGH","-~-~600998~-","GNAQ"]
["GNAQ","Port-wine stain of skin","NULL","Autosomal Dominant (Not Listed by HGMD; Listed in OMIM 600998)","NULL","NULL","HIGH","-~-~600998~-","GNAQ"]
["GNAQ","Sturge-Weber syndrome","NULL","Autosomal Dominant (Not Listed by HGMD; Listed in OMIM 600998)","NULL","NULL","HIGH","-~-~600998~-","GNAQ"]
["GNAS","Albright hereditary osteodystrophy","Pseudohypoparathyroidism type I A","Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Albright hereditary osteodystrophy & pseudohypopar","Pseudohypoparathyroidism type I A","Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Albright hereditary osteodystrophy with carpal tunnel syndrome","Pseudohypoparathyroidism type I A;Carpal tunnel syndrome","Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Autism","Autistic Disorder","Risk","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Hyperinsulinism","Hyperinsulinism","Autosomal Dominant","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Madelung deformity","Madelung's deformity","Autosomal Dominant","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Progressive osseous heteroplasia","Osteoma cutis","Autosomal Dominant","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Progressive osseous heteroplasia / pseudohypoparathyroidism 1a","Osteoma cutis;Pseudohypoparathyroidism type I A","Autosomal Dominant","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Pseudohypoparathyroidism","Pseudohypoparathyroidism type I A","Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Pseudohypoparathyroidism 1a","Pseudohypoparathyroidism type I A","Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Pseudohypoparathyroidism 1a, with testotoxicosis","Pseudohypoparathyroidism type I A;Gonadotropin-independent familial sexual precocity","Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Pseudohypoparathyroidism 1c","Pseudohypoparathyroidism Type 1C","Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAS","Reduced expression","Obesity","Risk","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism type I A:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism type I B:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism Type 1C:Autosomal Dominant, sex-influenced$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","ACTH-Independent Macronodular Adrenal Hyperplasia:Autosomal Dominant$Acromegaly:Autosomal Dominant$McCune-Albright syndrome:Autosomal Dominant$Osteoma cutis:Autosomal Dominant$Pseudohypoparathyroidism:Autosomal Dominant, sex-influenced","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2778[geneid]~-~139320~-","GNAS"]
["GNAT1","Nightblindness, stationary","Congenital stationary night blindness","Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Night Blindness, Congenital Stationary, Autosomal Dominant 3:Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant","HIGH","-~-~139330~-","GNAT1"]
["GNAT2","Achromatopsia","Achromatopsia","Autosomal Recessive","Achromatopsia 4:Autosomal Recessive$Achromatopsia:Autosomal Recessive","Achromatopsia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~139340~-","GNAT2"]
["GNAT2","Cone-rod degeneration","NULL","Association with disease negated PMID 15094710","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~139340~-","GNAT2"]
["GNB1L","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610778~-","GNB1L"]
["GNB4","Charcot-Marie-Tooth disease, dominant intermediate","Charcot-Marie-Tooth Disease, Dominant Intermediate F","Autosomal Dominant","Charcot-Marie-Tooth Disease, Dominant Intermediate F:Autosomal Dominant$Charcot-Marie-Tooth Disease:Autosomal Dominant","Charcot-Marie-Tooth Disease:Autosomal Dominant","HIGH","-~-~610863~-","GNB4"]
["GNE","GNE myopathy","Inclusion body myopathy Autosomal Recessive","Autosomal Recessive","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1164$http://www.ncbi.nlm.nih.gov/books/NBK1262~603824~-","GNE"]
["GNE","Inclusion body myopathy","Inclusion body myopathy Autosomal Recessive","Autosomal Recessive","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1164$http://www.ncbi.nlm.nih.gov/books/NBK1262~603824~-","GNE"]
["GNE","Inclusion body myopathy 2","Inclusion body myopathy Autosomal Recessive","Autosomal Recessive","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1164$http://www.ncbi.nlm.nih.gov/books/NBK1262~603824~-","GNE"]
["GNE","Myopathy, distal","Distal myopathy, Nonaka type","Autosomal Recessive","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1164$http://www.ncbi.nlm.nih.gov/books/NBK1262~603824~-","GNE"]
["GNE","Myopathy, distal, with rimmed vacuoles","Distal myopathy, Nonaka type","Autosomal Recessive","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1164$http://www.ncbi.nlm.nih.gov/books/NBK1262~603824~-","GNE"]
["GNE","Myopathy, limb-girdle","Myopathy, limb-girdle","Autosomal Recessive","Inclusion body myopathy, Autosomal Recessive:Autosomal Recessive$Inclusion body myopathy, Autosomal Recessive$Nonaka myopathy$Sialuria:Autosomal Dominant$Sialuria","Inclusion body myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1164$http://www.ncbi.nlm.nih.gov/books/NBK1262~603824~-","GNE"]
["GNE","Sialuria","Sialuria","Autosomal Dominant","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","Inclusion body myopathy Autosomal Recessive:Autosomal Recessive$Distal myopathy, Nonaka type:Autosomal Recessive$Sialuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1164$http://www.ncbi.nlm.nih.gov/books/NBK1262~603824~-","GNE"]
["GNMT","Glycine N-methyltransferase deficiency","Glycine N-Methyltransferase Deficiency","Autosomal Recessive","Glycine N-Methyltransferase Deficiency:Autosomal Recessive","Glycine N-Methyltransferase Deficiency:Autosomal Recessive","HIGH","-~-~606628~-","GNMT"]
["GNPAT","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Rhizomelic chondrodysplasia punctata, type 2:Autosomal Recessive$Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8443[geneid]~-~602744~-","GNPAT"]
["GNPAT","Rhizomelic chondrodysplasia punctata, type 2","Rhizomelic chondrodysplasia punctata, type 2","Autosomal Recessive","Rhizomelic chondrodysplasia punctata, type 2:Autosomal Recessive$Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8443[geneid]~-~602744~-","GNPAT"]
["GNPTAB","Mucolipidosis II","I-cell disease","Autosomal Recessive","I-cell disease:Autosomal Recessive$Mucolipidosis II:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive$Mucolipidosis III:Autosomal Recessive","I-cell disease:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1828$http://www.ncbi.nlm.nih.gov/books/NBK1875~607840~-","GNPTAB"]
["GNPTAB","Mucolipidosis III","Pseudo-Hurler polydystrophy","Autosomal Recessive","I-cell disease:Autosomal Recessive$Mucolipidosis II:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive$Mucolipidosis III:Autosomal Recessive","I-cell disease:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1828$http://www.ncbi.nlm.nih.gov/books/NBK1875~607840~-","GNPTAB"]
["GNPTAB","Mucolipidosis IIIA","Pseudo-Hurler polydystrophy","Autosomal Recessive","I-cell disease:Autosomal Recessive$Mucolipidosis II:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive$Mucolipidosis III:Autosomal Recessive","I-cell disease:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1828$http://www.ncbi.nlm.nih.gov/books/NBK1875~607840~-","GNPTAB"]
["GNPTAB","Mucolipidosis, intermediate","Mucolipidosis","Autosomal Recessive","I-cell disease:Autosomal Recessive$Mucolipidosis II:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive$Mucolipidosis III:Autosomal Recessive","I-cell disease:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1828$http://www.ncbi.nlm.nih.gov/books/NBK1875~607840~-","GNPTAB"]
["GNPTAB","Stuttering","Stuttering","Risk","I-cell disease:Autosomal Recessive$Mucolipidosis II:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive$Mucolipidosis III:Autosomal Recessive","I-cell disease:Autosomal Recessive$Pseudo-Hurler Polydystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1828$http://www.ncbi.nlm.nih.gov/books/NBK1875~607840~-","GNPTAB"]
["GNPTG","Mucolipidosis III","Pseudo-Hurler polydystrophy","Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84572[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK24701~607838~-","GNPTG"]
["GNPTG","Mucolipidosis III gamma","Mucolipidosis III Gamma","Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84572[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK24701~607838~-","GNPTG"]
["GNPTG","Mucolipidosis IIIc","Mucolipidosis III Gamma","Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84572[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK24701~607838~-","GNPTG"]
["GNPTG","Retinitis pigmentosa and spondylo-epiphyseal dysplasia","Retinitis pigmentosa;Spondyloepiphyseal dysplasia congenita","Autosomal Dominant","Mucolipidosis III Gamma:Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84572[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK24701~607838~-","GNPTG"]
["GNPTG","Stuttering","Stuttering","Risk","Mucolipidosis III Gamma:Autosomal Recessive","Mucolipidosis III Gamma:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84572[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK24701~607838~-","GNPTG"]
["GNRH1","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2796[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~152760~-","GNRH1"]
["GNRHR","Constitutional delay of puberty","Constitutional delay of puberty","Autosomal Dominant","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~138850~-","GNRHR"]
["GNRHR","GnRH deficiency","Primary amenorrhea;Abnormal female reproductive function","Autosomal Dominant","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~138850~-","GNRHR"]
["GNRHR","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~138850~-","GNRHR"]
["GNRHR","Hypogonadotropic hypogonadism, isolated","Hypogonadotropic hypogonadism","Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~138850~-","GNRHR"]
["GNRHR","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Fertile eunuch syndrome:Autosomal Recessive$Isolated lutropin deficiency:Autosomal Recessive$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2798[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~138850~-","GNRHR"]
["GNS","Mucopolysaccharidosis IIId","Mucopolysaccharidosis, MPS-III-D","Autosomal Recessive","Mucopolysaccharidosis, MPS-III-D:Autosomal Recessive$ Acetylglucosamine 6 Sulfate Sulfatase Deficiency:Autosomal Recessive","Mucopolysaccharidosis, MPS-III-D:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2799[geneid]~-~607664~-","GNS"]
["GOLGA3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602581~-","GOLGA3"]
["GON4L","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~610393~-","GON4L"]
["GORAB","Gerodermia osteodysplasticum","Geroderma osteodysplastica","Autosomal Recessive","Geroderma osteodysplastica:Autosomal Recessive","Geroderma osteodysplastica:Autosomal Recessive","HIGH","-~-~607983~-","GORAB"]
["GOSR2","Progressive myoclonus epilepsy with early ataxia","Progressive myoclonic epilepsy","Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","-~-~604027~-","GOSR2"]
["GOT1","Aspartate aminotransferase deficiency","Deficiency of aspartate aminotransferase","Autosomal Dominant","Deficiency of aspartate aminotransferase:Autosomal Dominant","Deficiency of aspartate aminotransferase:Autosomal Dominant","HIGH","-~-~138180~-","GOT1"]
["GP1BA","Bernard-Soulier syndrome","Bernard Soulier syndrome","Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2811[geneid]~-~606672~-","GP1BA"]
["GP1BA","Bernard-Soulier syndrome","Bernard Soulier syndrome","Autosomal Recessive","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2811[geneid]~-~606672~-","GP1BA"]
["GP1BA","Macrothrombocytopaenia","Macrothrombocytopenia","Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2811[geneid]~-~606672~-","GP1BA"]
["GP1BA","Pseudo-von Willebrand disease","Platelet type von Willebrand's disease","Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2811[geneid]~-~606672~-","GP1BA"]
["GP1BA","Von Willebrand disease, platelet-type","Platelet type von Willebrand's disease","Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","Bernard Soulier syndrome:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Dominant$Platelet type von Willebrand's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2811[geneid]~-~606672~-","GP1BA"]
["GP1BB","Bernard-Soulier syndrome","Bernard Soulier syndrome","Autosomal Recessive","Bernard-Soulier Syndrome, Type B:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Recessive$Giant platelet syndrome:Autosomal Recessive","Bernard Soulier syndrome:Autosomal Recessive$Giant platelet syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2812[geneid]~-~138720~-","GP1BB"]
["GP1BB","Giant platelet disorder","Giant platelet syndrome","Autosomal Recessive","Bernard-Soulier Syndrome, Type B:Autosomal Recessive$Bernard Soulier syndrome:Autosomal Recessive$Giant platelet syndrome:Autosomal Recessive","Bernard Soulier syndrome:Autosomal Recessive$Giant platelet syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2812[geneid]~-~138720~-","GP1BB"]
["GP6","Absence of collagen-induced platelet activation","Bleeding disorder, platelet-type","Autosomal Recessive","Bleeding disorder, platelet-type:Autosomal Recessive","Bleeding disorder, platelet-type:Autosomal Recessive","HIGH","-~-~605546~-","GP6"]
["GP9","Bernard-Soulier syndrome","Bernard Soulier syndrome","Autosomal Recessive","Bernard Soulier syndrome:Autosomal Recessive$Bernard-Soulier Syndrome, Type C:Autosomal Recessive","Bernard Soulier syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2815[geneid]~-~173515~-","GP9"]
["GPAM","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","-~-~602395~-","GPAM"]
["GPATCH8","Hypouricaemia, juvenile-onset","Hypouricemia in patients with Osteogenesis imperfecta","Autosomal Dominant",null,null,"HIGH","-~-~614396~-","GPATCH8"]
["GPBAR1","Primary sclerosing cholangitis","Primary sclerosing cholangitis;Ulcerative colitis","Risk",null,null,"HIGH","-~-~610147~-","GPBAR1"]
["GPC3","Simpson-Golabi-Behmel syndrome","Simpson-Golabi-Behmel syndrome","X-linked Recessive","Simpson-Golabi-Behmel syndrome:X-linked Recessive","Simpson-Golabi-Behmel syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2719[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1219~300037~-","GPC3"]
["GPC6","Omodysplasia","Omodysplasia I","Autosomal Recessive","Omodysplasia I:Autosomal Recessive","Omodysplasia I:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10082[geneid]~-~604404~-","GPC6"]
["GPD1","Hypertriglyceridaemia, infantile","Hypertriglyceridemia","Autosomal Recessive","Hypertriglyceridemia:Autosomal Recessive","Hypertriglyceridemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2819[geneid]~-~138420~-","GPD1"]
["GPD1L","Brugada syndrome","Brugada syndrome","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada syndrome 2:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23171[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~611778~-","GPD1L"]
["GPD1L","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada syndrome 2:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23171[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~611778~-","GPD1L"]
["GPD1L","Sudden infant death syndrome","Sudden infant death syndrome","Risk","Brugada syndrome:Autosomal Dominant$Brugada syndrome 2:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23171[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~611778~-","GPD1L"]
["GPD2","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2820[geneid]~-~138430~-","GPD2"]
["GPD2","Intellectual disability","Intellectual Disability","Risk","Diabetes mellitus type 2:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2820[geneid]~-~138430~-","GPD2"]
["GPHN","Hyperekplexia","Hyperexplexia","Autosomal Dominant","Molybdenum Cofactor Deficiency, Complementation Group C:Autosomal Dominant","Molybdenum Cofactor Deficiency, Complementation Group C:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10243[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~603930~-","GPHN"]
["GPHN","Molybdenum cofactor deficiency","Molybdenum Cofactor Deficiency, Complementation Group C","Autosomal Dominant","Molybdenum Cofactor Deficiency, Complementation Group C:Autosomal Dominant","Molybdenum Cofactor Deficiency, Complementation Group C:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10243[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~603930~-","GPHN"]
["GPI","Glucosephosphate isomerase deficiency","HNSHA due to glucose phosphate isomerase deficiency","Autosomal Recessive","HNSHA due to glucose phosphate isomerase deficiency:Autosomal Recessive","HNSHA due to glucose phosphate isomerase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2821[geneid]~-~172400~-","GPI"]
["GPIHBP1","Chylomicronaemia","Primary chylomicronemia","Autosomal Recessive",null,null,"HIGH","-~-~612757~-","GPIHBP1"]
["GPIHBP1","Hyperchylomicronaemia","Hyperchylomicronemia","Autosomal Recessive",null,null,"HIGH","-~-~612757~-","GPIHBP1"]
["GPIHBP1","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant",null,null,"HIGH","-~-~612757~-","GPIHBP1"]
["GPIHBP1","Reduced expression","Hyperchylomicronemia","Autosomal Recessive",null,null,"HIGH","-~-~612757~-","GPIHBP1"]
["GPR112","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","GPR112"]
["GPR125","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive",null,null,"HIGH","-~-~612303~-","GPR125"]
["GPR139","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124274[geneid]~-~-~-","GPR139"]
["GPR143","Albinism","Albinism","X-linked Recessive","Nystagmus:X-linked Recessive$Nystagmus 6, congenital, X-linked:X-linked Recessive$Ocular albinism:X-linked Recessive$Ocular albinism, type I, Nettleship-Falls type:X-linked Recessive","Nystagmus:X-linked Recessive$Ocular albinism:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1343~300808~-","GPR143"]
["GPR143","Albinism, ocular","Ocular albinism","X-linked Recessive","Nystagmus:X-linked Recessive$Nystagmus 6, congenital, X-linked:X-linked Recessive$Ocular albinism:X-linked Recessive$Ocular albinism, type I, Nettleship-Falls type:X-linked Recessive","Nystagmus:X-linked Recessive$Ocular albinism:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1343~300808~-","GPR143"]
["GPR143","Nystagmus, X-linked","Nystagmus 1, congenital, X- linked","X-linked Recessive","Nystagmus:X-linked Recessive$Nystagmus 6, congenital, X-linked:X-linked Recessive$Ocular albinism:X-linked Recessive$Ocular albinism, type I, Nettleship-Falls type:X-linked Recessive","Nystagmus:X-linked Recessive$Ocular albinism:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1343~300808~-","GPR143"]
["GPR152","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","GPR152"]
["GPR174","Graves' disease","Graves' disease","Risk",null,null,null,"-~-~300903~-","GPR174"]
["GPR179","Night blindness, congenital stationary, type 1B","Night Blindness, Congenital Stationary, Complete, Autosomal Recessive","Autosomal Recessive","Night Blindness, Congenital Stationary, Complete, Autosomal Recessive:Autosomal Recessive$Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~614515~-","GPR179"]
["GPR37","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602583~-","GPR37"]
["GPR56","Polymicrogyria, bilateral frontoparietal","Polymicrogyria, Bilateral Frontoparietal","Autosomal Recessive","Polymicrogyria, Bilateral Frontoparietal:Autosomal Recessive","Polymicrogyria, Bilateral Frontoparietal:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9289[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1329~604110~-","GPR56"]
["GPR73","Hirschsprung disease","Hirschsprung's disease","Risk",null,null,"HIGH","-~-~607122~-","PROKR1"]
["GPR75","Macular degeneration, age related","Age-related macular degeneration","Risk","Age-related macular degeneration:Risk","Age-related macular degeneration:Risk","HIGH","-~-~606704~-","GPR75"]
["GPR98","Autism","Autistic Disorder","Risk","Febrile convulsion:Autosomal Dominant$Febrile Convulsions, Familial, 4:Autosomal Dominant$Usher syndrome, type 2C:Autosomal Dominant$Usher syndrome:Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Usher syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84059[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~602851~-","GPR98"]
["GPR98","Deafness, non-syndromic","Deafness","Autosomal Recessive","Febrile convulsion:Autosomal Dominant$Febrile Convulsions, Familial, 4:Autosomal Dominant$Usher syndrome, type 2C:Autosomal Dominant$Usher syndrome:Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Usher syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84059[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~602851~-","GPR98"]
["GPR98","Febrile and afebrile seizures","Febrile convulsion;Afebrile seizure","Risk","Febrile convulsion:Autosomal Dominant$Febrile Convulsions, Familial, 4:Autosomal Dominant$Usher syndrome, type 2C:Autosomal Dominant$Usher syndrome:Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Usher syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84059[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~602851~-","GPR98"]
["GPR98","Usher syndrome 1","Usher syndrome type 1","Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Febrile Convulsions, Familial, 4:Autosomal Dominant$Usher syndrome, type 2C:Autosomal Dominant$Usher syndrome:Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Usher syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84059[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~602851~-","GPR98"]
["GPR98","Usher syndrome 2","Usher syndrome type 2","Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Febrile Convulsions, Familial, 4:Autosomal Dominant$Usher syndrome, type 2C:Autosomal Dominant$Usher syndrome:Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Usher syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84059[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~602851~-","GPR98"]
["GPR98","Usher syndrome 3","Usher syndrome type 3","Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Febrile Convulsions, Familial, 4:Autosomal Dominant$Usher syndrome, type 2C:Autosomal Dominant$Usher syndrome:Autosomal Dominant","Febrile convulsion:Autosomal Dominant$Usher syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84059[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1341~602851~-","GPR98"]
["GPRIN3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611241~-","GPRIN3"]
["GPS1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601934~-","GPS1"]
["GPSM2","Chudley-McCullough syndrome","Chudley-Mccullough syndrome","Autosomal Recessive","Chudley-McCullough syndrome:Autosomal Recessive","Chudley-McCullough syndrome:Autosomal Recessive","HIGH","-~-~609245~-","GPSM2"]
["GPSM2","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Chudley-McCullough syndrome:Autosomal Recessive","Chudley-McCullough syndrome:Autosomal Recessive","HIGH","-~-~609245~-","GPSM2"]
["GPT","Glutamic-pyruvate transaminase deficiency","Deficiency of alanine aminotransferase","Autosomal Recessive",null,null,"HIGH","-~-~138200~-","GPT"]
["GPX4","Increased 5-lipoxygenase metabolism","NULL","No disease association PMID 12490284","NULL","NULL","HIGH","-~-~138322~-","GPX4"]
["GPX4","Increased 5-lipoxygenase metabolism","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~138322~-","GPX4"]
["GRB10","Russell-Silver syndrome","Russell-Silver syndrome","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2887[geneid]~-~601523~-","GRB10"]
["GRHL2","Deafness, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 28:Autosomal Dominant$Deafnes:Autosomal Dominant","Deafnes:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79977[geneid]~-~608576~-","GRHL2"]
["GRHPR","Hyperoxaluria II","Primary hyperoxaluria, type II","Autosomal Recessive","Primary hyperoxaluria, type II:Autosomal Recessive$Primary hyperoxaluria:Autosomal Recessive","Primary hyperoxaluria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9380[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2692~604296~-","GRHPR"]
["GRIA1","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~138248~-","GRIA1"]
["GRIA3","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked 94:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2892[geneid]~-~305915~-","GRIA3"]
["GRIN1","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~138249~-","GRIN1"]
["GRIN2A","Epileptic encephalopathy, abnormal EEG & developmental delay","Epilepsy with neurodevelopmental defects","Autosomal Dominant","Acquired epileptic aphasia:Autosomal Dominant","Acquired epileptic aphasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2903[geneid]~-~138253~-","GRIN2A"]
["GRIN2A","Intellectual disability","Intellectual Disability","Risk","Acquired epileptic aphasia:Autosomal Dominant","Acquired epileptic aphasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2903[geneid]~-~138253~-","GRIN2A"]
["GRIN2A","Mental retardation with abnormal EEG","Mental retardation;Electroencephalogram abnormal","Risk","Acquired epileptic aphasia:Autosomal Dominant","Acquired epileptic aphasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2903[geneid]~-~138253~-","GRIN2A"]
["GRIN2A","Schizophrenia","Schizophrenia","Risk","Acquired epileptic aphasia:Autosomal Dominant","Acquired epileptic aphasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2903[geneid]~-~138253~-","GRIN2A"]
["GRIN2B","Autism","Autistic Disorder","Risk","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2904[geneid]~-~138252~-","GRIN2B"]
["GRIN2B","Autism spectrum disorder","Autistic Disorder","Risk","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2904[geneid]~-~138252~-","GRIN2B"]
["GRIN2B","Intellectual disability","Intellectual Disability","Risk","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2904[geneid]~-~138252~-","GRIN2B"]
["GRIN2B","Mental retardation with behavioural anomalies","Mental retardation;Behavioral disability","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2904[geneid]~-~138252~-","GRIN2B"]
["GRIN3A","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~606650~-","GRIN3A"]
["GRIP1","Autism","Autistic Disorder","Risk","Fraser syndrome:Autosomal Recessive$Cryptophthalmos syndrome:Autosomal Recessive","Fraser syndrome:Autosomal Recessive$Cryptophthalmos syndrome:Autosomal Recessive","HIGH","-~-~604597~-","GRIP1"]
["GRIP1","Fraser syndrome","Cryptophthalmos syndrome","Autosomal Recessive","Fraser syndrome:Autosomal Recessive$Cryptophthalmos syndrome:Autosomal Recessive","Fraser syndrome:Autosomal Recessive$Cryptophthalmos syndrome:Autosomal Recessive","HIGH","-~-~604597~-","GRIP1"]
["GRM1","Cerebellar ataxia, Autosomal Recessive congenital","Cerebellar ataxia","Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","HIGH","-~-~604473~-","GRM1"]
["GRM1","Schizophrenia","Schizophrenia","Risk","Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","HIGH","-~-~604473~-","GRM1"]
["GRM1","Schizophrenia / bipolar disorder","Schizophrenia;Bipolar disorder","Risk","Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","HIGH","-~-~604473~-","GRM1"]
["GRM1","Spinocerebellar ataxia","Spinocerebellar ataxia","Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","HIGH","-~-~604473~-","GRM1"]
["GRM6","Myopia","Myopia","Autosomal Dominant","Night Blindness, Congenital Stationary, Type 1B:Autosomal Recessive:Autosomal Recessive$Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~604096~-","GRM6"]
["GRM6","Night blindness, congenital","Congenital stationary night blindness","Autosomal Recessive","Night Blindness, Congenital Stationary, Type 1B:Autosomal Recessive:Autosomal Recessive$Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~604096~-","GRM6"]
["GRM7","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~604101~-","GRM7"]
["GRM7","Presbycusis","Presbycusis","Risk",null,null,"HIGH","-~-~604101~-","GRM7"]
["GRN","Alzheimer disease","Alzheimer's disease","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Modifier","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Amyotrophic lateral sclerosis / frontotemporal dementia","Amyotrophic lateral sclerosis;Frontotemporal dementia","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Aphasia, progressive nonfluent","Primary Progressive Nonfluent Aphasia","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Aphasia, progressive semantic","Primary progressive aphasia","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Corticobasal syndrome","Frontotemporal dementia","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Frontotemporal dementia","Frontotemporal dementia","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Neurodegenerative disease","Neurodegenerative Disease","Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRN","Neuronal ceroid lipofuscinosis","Neuronal ceroid lipofuscinosis","Autosomal Recessive","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","Primary progressive aphasia:Autosomal Dominant$Neuronal ceroid lipofuscinosis:Autosomal Recessive$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2896[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428$http://www.ncbi.nlm.nih.gov/books/NBK1371~138945~-","GRN"]
["GRPR","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~305670~-","GRPR"]
["GRXCR1","Hearing impairment, nonsyndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~613283~-","GRXCR1"]
["GSC","Microtia","Microtia","Autosomal Dominant",null,null,"HIGH","-~-~138890~-","GSC"]
["GSN","Amyloidosis","Amyloidosis","Autosomal Dominant","Lattice corneal dystrophy:Autosomal Dominant","Lattice corneal dystrophy:Autosomal Dominant","HIGH","-~-~137350~-","GSN"]
["GSN","Breast cancer","Malignant tumor of breast","Modifier","Lattice corneal dystrophy:Autosomal Dominant","Lattice corneal dystrophy:Autosomal Dominant","HIGH","-~-~137350~-","GSN"]
["GSN","Corneal dystrophy 2","Corneal dystrophy","Autosomal Dominant","Lattice corneal dystrophy:Autosomal Dominant","Lattice corneal dystrophy:Autosomal Dominant","HIGH","-~-~137350~-","GSN"]
["GSR","Glutathione reductase deficiency","Favism;Cataract;Neonatal jaundice;Hemolytic anemia","Autosomal Recessive","HNSHA due to glutathione reductase deficiency:Autosomal Recessive","HNSHA due to glutathione reductase deficiency:Autosomal Recessive","HIGH","-~-~138300~-","GSR"]
["GSS","Glutathione synthetase deficiency","Deficiency of glutathione synthase;Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency","Autosomal Recessive","Deficiency of glutathione synthase:Autosomal Recessive$HNSHA due to glutathione synthetase deficiency:Autosomal Recessive","Deficiency of glutathione synthase:Autosomal Recessive$HNSHA due to glutathione synthetase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2937[geneid]~-~601002~-","GSS"]
["GSTM4","Altered splicing","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~138333~-","GSTM4"]
["GSTT1","Altered function","NULL","No disease association PMID 19664997","NULL","NULL","HIGH","-~-~600436~-","GSTT1"]
["GSTT1","Altered function","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~600436~-","GSTT1"]
["GSTT1","GSTT1 variant","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~600436~-","GSTT1"]
["GSTT1","Non-conjugator phenotype","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~600436~-","GSTT1"]
["GSTT1","Reduced thermostability","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~600436~-","GSTT1"]
["GTDC2","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","-~-~614828~-","POMGNT2"]
["GTF2H5","Trichothiodystrophy","Brittle hair-impaired intellect-decreased fertility-short stature syndrome","Autosomal Recessive","BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive","BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome:Autosomal Recessive","HIGH","-~-~608780~-","GTF2H5"]
["GTF2IRD1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604318~-","GTF2IRD1"]
["GUCA1A","Cone Dystrophy 3","Cone Dystrophy 3","Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Cone Dystrophy 3:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","HIGH","-~-~600364~-","GUCA1A"]
["GUCA1A","Cone dystrophy, Autosomal Dominant","Cone dystrophy","Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Cone Dystrophy 3:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","HIGH","-~-~600364~-","GUCA1A"]
["GUCA1A","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Cone Dystrophy 3:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","HIGH","-~-~600364~-","GUCA1A"]
["GUCA1A","Retinitis pigmentosa, atypical","Degeneration of retina","Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Cone Dystrophy 3:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Cone dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","HIGH","-~-~600364~-","GUCA1A"]
["GUCA1B","Retinal dystrophy, Autosomal Dominant","Retinal dystrophy","Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~602275~-","GUCA1B"]
["GUCA1B","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~602275~-","GUCA1B"]
["GUCA1B","Retinitis pigmentosa, atypical","Retinitis pigmentosa","Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~602275~-","GUCA1B"]
["GUCY2C","Diarrhoea syndrome, familial","Chronic diarrhea","Autosomal Dominant","Chronic diarrhea:Autosomal Dominant$Diarrhea:Autosomal Dominant$Meconium ileus:Autosomal Recessive","Chronic diarrhea:Autosomal Dominant$Diarrhea:Autosomal Dominant$Meconium ileus:Autosomal Recessive","HIGH","-~-~601330~-","GUCY2C"]
["GUCY2C","Meconium ileus","Meconium ileus","Autosomal Recessive","Chronic diarrhea:Autosomal Dominant$Diarrhea:Autosomal Dominant$Meconium ileus:Autosomal Recessive","Chronic diarrhea:Autosomal Dominant$Diarrhea:Autosomal Dominant$Meconium ileus:Autosomal Recessive","HIGH","-~-~601330~-","GUCY2C"]
["GUCY2D","Central areolar choroidal dystrophy","Central areolar choroidal sclerosis","Autosomal Dominant","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUCY2D","Cone dystrophy, Autosomal Dominant","Cone dystrophy","Autosomal Dominant","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUCY2D","Cone-rod degeneration, Autosomal Dominant","Retinitis Pigmentosa","Autosomal Dominant","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUCY2D","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Dominant","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUCY2D","Increased severity in Leber congenital amaurosis","Leber's amaurosis","Modifier","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUCY2D","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUCY2D","Retinitis pigmentosa","Retinitis Pigmentosa","Autosomal Dominant","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUCY2D","Usher syndrome","Retinitis pigmentosa-deafness syndrome","Autosomal Dominant","Retinal cone dystrophy 2:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Amaurosis congenita of Leber, type 1:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~600179~-","GUCY2D"]
["GUSB","Hydrops fetalis","Hydrops fetalis","Autosomal Dominant","Mucopolysaccharidosis, MPS-VII:Autosomal Recessive","Mucopolysaccharidosis, MPS-VII:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2990[geneid]~-~611499~-","GUSB"]
["GUSB","Mucopolysaccharidosis VII","Mucopolysaccharidosis, MPS-VII","Autosomal Recessive","Mucopolysaccharidosis, MPS-VII:Autosomal Recessive","Mucopolysaccharidosis, MPS-VII:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2990[geneid]~-~611499~-","GUSB"]
["GYG1","Glycogenin 1 deficiency","Glycogen storage disease XV","Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","-~-~603942~-","GYG1"]
["GYG2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300198~-","GYG2"]
["GYPA","Blood group Erik variant","Blood group antigen ERIK","Risk","Antigen in MNS blood group system:Risk","Antigen in MNS blood group system:Risk","HIGH","-~-~111300~-","GYPA"]
["GYPA","Blood group variation","Blood group antigen ERIK","Risk","Antigen in MNS blood group system:Risk","Antigen in MNS blood group system:Risk","HIGH","-~-~111300~-","GYPA"]
["GYPA","Haemolytic disease of the newborn","Haemolytic disease of the newborn","Risk","Antigen in MNS blood group system:Risk","Antigen in MNS blood group system:Risk","HIGH","-~-~111300~-","GYPA"]
["GYPA","MNS antigen, absence","Antigen in MNS blood group system","Risk","Antigen in MNS blood group system:Risk","Antigen in MNS blood group system:Risk","HIGH","-~-~111300~-","GYPA"]
["GYPB","Blood group variation","Blood group, Ss","Risk","Blood group, Ss:Risk","Blood group, Ss:Risk","HIGH","-~-~111740~-","GYPB"]
["GYPB","Ss blood group variation","Blood group, Ss","Risk","Blood group, Ss:Risk","Blood group, Ss:Risk","HIGH","-~-~111740~-","GYPB"]
["GYPC","Duch blood group","Blood group antigen Dh(a)","Risk","Blood group antigen Ge3:Risk","Blood group antigen Ge3:Risk","HIGH","-~-~110750~-","GYPC"]
["GYPC","Elliptocytosis","Elliptocytosis","Risk","Blood group antigen Ge3:Risk","Blood group antigen Ge3:Risk","HIGH","-~-~110750~-","GYPC"]
["GYPC","Glycophorin C variant","Blood group antigen Ge3","Risk","Blood group antigen Ge3:Risk","Blood group antigen Ge3:Risk","HIGH","-~-~110750~-","GYPC"]
["GYS1","Glycogen storage disease","Glycogen storage disease","Autosomal Recessive","Glycogen Storage Disease 0, Muscle:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2997[geneid]~-~138570~-","GYS1"]
["GYS1","GYS1 deficiency","Glycogen Storage Disease 0, Muscle","Autosomal Recessive","Glycogen Storage Disease 0, Muscle:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2997[geneid]~-~138570~-","GYS1"]
["GYS1","Muscle glycogen storage disease 0","Glycogen Storage Disease 0, Muscle","Autosomal Recessive","Glycogen Storage Disease 0, Muscle:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2997[geneid]~-~138570~-","GYS1"]
["GYS2","Glycogen storage disease 0","Glycogen synthase deficiency","Autosomal Recessive","Glycogen storage disease, type 0:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2998[geneid]~-~138571~-","GYS2"]
["GYS2","Hypoglycaemia, ketotic","Ketotic hypoglycemia","Autosomal Recessive","Glycogen synthase deficiency:Autosomal Recessive","Glycogen synthase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2998[geneid]~-~138571~-","GYS2"]
["H19","Beckwith-Wiedemann syndrome","Beckwith-Wiedemann syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Russell-Silver syndrome:Autosomal Dominant$Familial Wilms tumor 2:Autosomal Dominant$Nephroblastoma:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Russell-Silver syndrome:Autosomal Dominant$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283120[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1324~103280~-","H19"]
["H19","Familial Wilms tumor 2","Familial Wilms tumor 2","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Russell-Silver syndrome:Autosomal Dominant$Familial Wilms tumor 2:Autosomal Dominant$Nephroblastoma:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Russell-Silver syndrome:Autosomal Dominant$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283120[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1324~103280~-","H19"]
["H19","Silver-Russell syndrome","Russell-Silver syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Russell-Silver syndrome:Autosomal Dominant$Familial Wilms tumor 2:Autosomal Dominant$Nephroblastoma:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Russell-Silver syndrome:Autosomal Dominant$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283120[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1324~103280~-","H19"]
["H6PD","Cortisone reductase deficiency","Deficiency of (R)-20-hydroxysteroid dehydrogenase","Autosomal Recessive","Deficiency of (R)-20-hydroxysteroid dehydrogenase:Autosomal Recessive","Deficiency of (R)-20-hydroxysteroid dehydrogenase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9563[geneid]~-~138090~-","H6PD"]
["H6PD","Cortisone reductase deficiency, partial","Deficiency of (R)-20-hydroxysteroid dehydrogenase","Autosomal Recessive","Deficiency of (R)-20-hydroxysteroid dehydrogenase:Autosomal Recessive","Deficiency of (R)-20-hydroxysteroid dehydrogenase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9563[geneid]~-~138090~-","H6PD"]
["HACE1","Wilms tumour","Nephroblastoma","Risk","Nephroblastoma:Risk","Nephroblastoma:Risk","HIGH","-~-~610876~-","HACE1"]
["HADH","Hypoglycaemia, hyperinsulinaemic","Hyperinsulinemic hypoglycemia","Autosomal Recessive","Deficiency of 3-hydroxyacyl-CoA dehydrogenase:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Recessive$Hyperinsulinemic Hypoglycemia, Familial, 4:Autosomal Recessive","Deficiency of 3-hydroxyacyl-CoA dehydrogenase:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3033[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~601609~-","HADH"]
["HADH","Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","Deficiency of 3-hydroxyacyl-CoA dehydrogenase","Autosomal Recessive","Deficiency of 3-hydroxyacyl-CoA dehydrogenase:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Recessive$Hyperinsulinemic Hypoglycemia, Familial, 4:Autosomal Recessive","Deficiency of 3-hydroxyacyl-CoA dehydrogenase:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3033[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~601609~-","HADH"]
["HADH","Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","Deficiency of 3-hydroxyacyl-CoA dehydrogenase","Autosomal Recessive","Deficiency of 3-hydroxyacyl-CoA dehydrogenase:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Recessive$Hyperinsulinemic Hypoglycemia, Familial, 4:Autosomal Recessive","Deficiency of 3-hydroxyacyl-CoA dehydrogenase:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3033[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~601609~-","HADH"]
["HADHA","Hemolysis, elevated liver enzymes, and low platelets","HELLP syndrome","Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3030[geneid]~-~600890~-","HADHA"]
["HADHA","Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","Mitochondrial trifunctional protein deficiency","Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3030[geneid]~-~600890~-","HADHA"]
["HADHA","Mitochondrial trifunctional protein deficiency","Mitochondrial trifunctional protein deficiency;Necrosis of liver of pregnancy","Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3030[geneid]~-~600890~-","HADHA"]
["HADHA","Mitochondrial trifunctional protein deficiency & rhabdomyolysis","Mitochondrial trifunctional protein deficiency","Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","Necrosis of liver of pregnancy:Autosomal Recessive$HELLP syndrome:Autosomal Recessive$Mitochondrial trifunctional protein deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3030[geneid]~-~600890~-","HADHA"]
["HADHB","Cardiomyopathy","Cardiomyopathy","Autosomal Recessive","Mitochondrial trifunctional protein deficiency:Autosomal Recessive","Mitochondrial trifunctional protein deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3032[geneid]~-~143450~-","HADHB"]
["HADHB","Mitochondrial trifunctional protein deficiency","Mitochondrial trifunctional protein deficiency","Autosomal Recessive","Mitochondrial trifunctional protein deficiency:Autosomal Recessive","Mitochondrial trifunctional protein deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3032[geneid]~-~143450~-","HADHB"]
["HAL","Histidinaemia","Histidinemia","Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","HIGH","-~-~609457~-","HAL"]
["HAMP","Haemochromatosis","Hereditary hemochromatosis","Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57817[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1170~606464~-","HAMP"]
["HAMP","Haemochromatosis, HFE related","Hemochromatosis, Type 2B","Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57817[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1170~606464~-","HAMP"]
["HAMP","Haemochromatosis, juvenile","Juvenile hemochromatosis","Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57817[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1170~606464~-","HAMP"]
["HAMP","Increased liver iron concentration","Iron measurement, liver tissue - High","Autosomal Dominant","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Histidinemia:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57817[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1170~606464~-","HAMP"]
["HAND1","Cardiac malformations","Congenital septal defect of heart","Risk",null,null,"HIGH","-~-~602406~-","HAND1"]
["HAND1","Heart hypoplasia","Hypoplastic left heart syndrome","Risk",null,null,"HIGH","-~-~602406~-","HAND1"]
["HAND1","Ventricular septal defect","Ventricular septal defect","Risk",null,null,"HIGH","-~-~602406~-","HAND1"]
["HAND2","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~602407~-","HAND2"]
["HAP1","Autism spectrum disorder","Autistic Disorder","Risk","Huntington's chorea:Modifier","Huntington's chorea:Modifier","HIGH","-~-~600947~-","HAP1"]
["HAP1","Huntington disease, delayed age-at-onset","Huntington's chorea","Modifier","Huntington's chorea:Modifier","Huntington's chorea:Modifier","HIGH","-~-~600947~-","HAP1"]
["HARS","Peripheral neuropathy","Peripheral nerve disease","Autosomal Dominant","Usher Syndrome:Autosomal Recessive$Usher Syndrome, Type III:Autosomal Recessive","Usher Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3035[geneid]~-~142810~-","HARS"]
["HARS","Usher syndrome","Usher Syndrome","Autosomal Recessive","Usher Syndrome:Autosomal Recessive$Usher Syndrome, Type III:Autosomal Recessive","Usher Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3035[geneid]~-~142810~-","HARS"]
["HARS2","Perrault syndrome","Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance","Autosomal Recessive","Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance:Autosomal Recessive$Perrault syndrome 2:Autosomal Recessive","Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23438[geneid]~-~600783~-","HARS2"]
["HAX1","Kostmann disease","Congenital neutropenia","Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10456[geneid]~-~605998~-","HAX1"]
["HAX1","Neutropaenia, severe congenital","Severe congenital neutropenia","Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10456[geneid]~-~605998~-","HAX1"]
["HAX1","Neutropaenia, severe congenital with neurological symptoms","Severe congenital neutropenia","Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10456[geneid]~-~605998~-","HAX1"]
["HBA1","Erythremia, Alpha-Globin Type","Erythremia, Alpha-Globin Type","Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA1","Haemoglobin variant","Hemoglobin variant","Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA1","Haemolytic anaemia","Hemolytic anemia","Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA1","Hemoglobin H disease","Hemoglobin H disease","Autosomal Recessive","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA1","Methemoglobinemia, Alpha-Globin Type","Methemoglobinemia, Alpha-Globin Type","Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA1","Reduced oxygen affinity","Reduced oxygen affinity","Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA1","Thalassaemia alpha","alpha-Thalassemia","Autosomal Recessive","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA1","Unstable hemoglobin disease ","Unstable hemoglobin disease","Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","Erythremia, Alpha-Globin Type:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Dominant$Methemoglobinemia, Alpha-Globin Type:Autosomal Dominant$alpha-Thalassemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3039[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141800~-","HBA1"]
["HBA2","Anaemia with hypochromia & microcytosis","Anemia","Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3040[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141850~-","HBA2"]
["HBA2","Erythrocytosis","Erythrocytosis","Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3040[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141850~-","HBA2"]
["HBA2","Haemoglobin H disease","Hemoglobin H disease","Autosomal Recessive","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3040[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141850~-","HBA2"]
["HBA2","Haemoglobin variant","Hemoglobin variant","Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3040[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141850~-","HBA2"]
["HBA2","Haemolytic anaemia","Hemolytic anemia","Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3040[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141850~-","HBA2"]
["HBA2","Thalassaemia alpha","alpha-Thalassemia","Autosomal Recessive","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Dominant$Hemoglobin H disease:Autosomal Recessive$alpha-Thalassemia:Autosomal Recessive$Microcytic hypochromic anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3040[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1435~141850~-","HBA2"]
["HBB","Anaemia","Anemia","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Anaemia, hypochromic mitocytic","Microcytic hypochromic anemia","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Dyspnea, progressive","Dyspnea, progressive","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Erythrocytosis","Erythrocytosis","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Haemoglobin variant","Hemoglobin variant","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Haemolytic anaemia","Hemolytic anemia","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Hereditary persistence of foetal haemoglobin","NULL","No listing in HGMD or OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Polycythaemia","Polycythemia vera","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Sickle cell anaemia","Sickle Cell Anemia","Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Sickling variant","Sickle Cell Anemia","Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Thalassaemia beta","beta Thalassemia","Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Thalassaemia beta, silent","beta+ Thalassemia, normal Hb A2, type 1, silent","Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Thalassaemia intermedia","NULL","No listing in HGMD or OMIM","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBB","Thalassaemia trait","Heterozygous thalassemia","Autosomal Dominant","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","delta beta Thalassemia:Autosomal Dominant$delta beta Thalassemia:Autosomal Recessive$Erythremia, Beta-Globin Type:Autosomal Dominant$Erythremia, Beta-Globin Type:Autosomal Recessive$Unstable hemoglobin disease:Autosomal Dominant$Unstable hemoglobin disease:Autosomal Recessive$Hereditary persistence of fetal hemoglobin:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Recessive$Methemoglobinemia, Beta-Globin Type:Autosomal Dominant$Methemoglobinemia, Beta-Globin Type:Autosomal Recessive$Sickle cell anemia:Autosomal Dominant$Sickle cell anemia:Autosomal Recessive$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Dominant$Beta Thalassemia, Dominant Inclusion Body Type:Autosomal Recessive$beta Thalassemia:Autosomal Dominant$beta Thalassemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1426$http://www.ncbi.nlm.nih.gov/books/NBK1377~141900~-","HBB"]
["HBD","Haemoglobin variant","Hemoglobinopathy;delta Thalassemia","Autosomal Recessive","Hb Lepore thalassemia:Autosomal Recessive$delta Thalassemia:Autosomal Recessive","Hb Lepore thalassemia:Autosomal Recessive$delta Thalassemia:Autosomal Recessive","HIGH","-~-~142000~-","HBD"]
["HBD","Thalassaemia beta","delta Thalassemia","Autosomal Recessive","Hb Lepore thalassemia:Autosomal Recessive$delta Thalassemia:Autosomal Recessive","Hb Lepore thalassemia:Autosomal Recessive$delta Thalassemia:Autosomal Recessive","HIGH","-~-~142000~-","HBD"]
["HBD","Thalassaemia delta","delta Thalassemia","Autosomal Recessive","Hb Lepore thalassemia:Autosomal Recessive$delta Thalassemia:Autosomal Recessive","Hb Lepore thalassemia:Autosomal Recessive$delta Thalassemia:Autosomal Recessive","HIGH","-~-~142000~-","HBD"]
["HBEGF","CFHR5 nephropathy, modifier of","Glomerular disease","Modifier",null,null,"HIGH","-~-~126150~-","HBEGF"]
["HBG1","Haemoglobin variant","Hemoglobin variant","Autosomal Dominant","Fetal hemoglobin level:Autosomal Dominant","Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3047[geneid]~-~142200~-","HBG1"]
["HBG1","Hereditary persistence of foetal haemoglobin","Hereditary persistence of fetal hemoglobin","Autosomal Dominant","Fetal hemoglobin level:Autosomal Dominant","Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3047[geneid]~-~142200~-","HBG1"]
["HBG1","Increased expression","delta beta Thalassemia","Autosomal Recessive","Fetal hemoglobin level:Autosomal Dominant","Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3047[geneid]~-~142200~-","HBG1"]
["HBG2","Elevated foetal G gamma globin levels","Hereditary persistence of fetal hemoglobin","Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3048[geneid]~-~142250~-","HBG2"]
["HBG2","Haemoglobin variant","Hemoglobin variant","Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3048[geneid]~-~142250~-","HBG2"]
["HBG2","Hereditary persistence of foetal haemoglobin","Hereditary persistence of fetal hemoglobin","Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3048[geneid]~-~142250~-","HBG2"]
["HBG2","Methemoglobinaemia and cyanosis in the newborn","Methemoglobinemia;Neonatal cyanosis","Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3048[geneid]~-~142250~-","HBG2"]
["HBG2","Neonatal cyanosis","Neonatal cyanosis","Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3048[geneid]~-~142250~-","HBG2"]
["HBG2","Neonatal cyanosis & anaemia","Neonatal cyanosis;Anemia","Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","Neonatal cyanosis:Autosomal Dominant$Fetal hemoglobin level:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3048[geneid]~-~142250~-","HBG2"]
["HCAR1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606923~-","HCAR1"]
["HCCS","Microphthalmia, syndromic 7","Microphthalmia, syndromic 7","Autosomal Dominant","Microphthalmia, syndromic 7:Autosomal Dominant$Microphthalmos:Autosomal Dominant","Microphthalmos:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3052[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7041~300056~-","HCCS"]
["HCFC1","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Mental Retardation, X-Linked 3:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","-~-~300019~-","HCFC1"]
["HCN1","Idiopathic epilepsy, generalised","Idiopathic generalized epilepsy","Risk",null,null,"HIGH","-~-~602780~-","HCN1"]
["HCN2","Altered splicing","Epilepsy","Autosomal Recessive","Generalized Epilepsy with Febrile Seizures Plus:Risk","Generalized Epilepsy with Febrile Seizures Plus:Risk","HIGH","-~-~602781~17931874","HCN2"]
["HCN2","Altered splicing","Idiopathic generalized epilepsy","Risk","Generalized Epilepsy with Febrile Seizures Plus:Risk","Generalized Epilepsy with Febrile Seizures Plus:Risk","HIGH","-~-~602781~-","HCN2"]
["HCN2","Epilepsy, idiopathic generalised","Epilepsy","Autosomal Recessive","Generalized Epilepsy with Febrile Seizures Plus:Risk","Generalized Epilepsy with Febrile Seizures Plus:Risk","HIGH","-~-~602781~22131395","HCN2"]
["HCN2","Epilepsy, idiopathic generalised","Febrile convulsion;Generalized Epilepsy with Febrile Seizures Plus","Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Risk","Generalized Epilepsy with Febrile Seizures Plus:Risk","HIGH","-~-~602781~-","HCN2"]
["HCN2","Sudden unexpected death in epilepsy","Sudden unexplained death in epilepsy","Risk","Generalized Epilepsy with Febrile Seizures Plus:Risk","Generalized Epilepsy with Febrile Seizures Plus:Risk","HIGH","-~-~602781~-","HCN2"]
["HCN4","Brugada syndrome","Brugada syndrome","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 8:Autosomal Dominant$Sick Sinus Syndrome 2, Autosomal Dominant:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10021[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~605206~-","HCN4"]
["HCN4","Sinus bradycardia","Sinus bradycardia","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 8:Autosomal Dominant$Sick Sinus Syndrome 2, Autosomal Dominant:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10021[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~605206~-","HCN4"]
["HCN4","Sinus node disease","Sinus node dysfunction","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 8:Autosomal Dominant$Sick Sinus Syndrome 2, Autosomal Dominant:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10021[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~605206~-","HCN4"]
["HCN4","Sudden infant death syndrome","Sudden infant death syndrome","Risk","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 8:Autosomal Dominant$Sick Sinus Syndrome 2, Autosomal Dominant:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10021[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~605206~-","HCN4"]
["HCN4","Sudden unexpected death in epilepsy","Sudden unexplained death in epilepsy","Risk","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 8:Autosomal Dominant$Sick Sinus Syndrome 2, Autosomal Dominant:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10021[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~605206~-","HCN4"]
["HCN4","Tachycardia-bradycardia syndrome and atrial fibrillation","Tachycardia-bradycardia;Atrial fibrillation","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 8:Autosomal Dominant$Sick Sinus Syndrome 2, Autosomal Dominant:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10021[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~605206~-","HCN4"]
["HCN4","Ventricular tachycardia","Ventricular tachycardia","Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Brugada Syndrome 8:Autosomal Dominant$Sick Sinus Syndrome 2, Autosomal Dominant:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10021[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~605206~-","HCN4"]
["HCRT","Narcolepsy, early onset","Narcolepsy","Autosomal Dominant","Narcolepsy 1:Autosomal Dominant$Narcolepsy:Autosomal Dominant","Narcolepsy:Autosomal Dominant","HIGH","-~-~602358~-","HCRT"]
["HCRTR2","Excessive daytime sleepiness","NULL","PMID 15477554 mentions link to Cluster Headache. This link negated by PMID 16801656. Excessive daytime sleepiness not mentioned in these PMIDs","NULL","NULL","HIGH","-~-~602393~-","HCRTR2"]
["HCRTR2","Tourette syndrome","NULL","PMID 15477554 mentions link to Cluster Headache. This link negated by PMID 16801656. Tourette syndrome not mentioned in these PMIDs","NULL","NULL","HIGH","-~-~602393~-","HCRTR2"]
["HDAC4","Brachydactyly mental retardation syndrome","Brachydactyly-Mental Retardation syndrome","Autosomal Dominant","Brachydactyly-Mental Retardation syndrome:Autosomal Dominant","Brachydactyly-Mental Retardation syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1158~605314~-","HDAC4"]
["HDAC6","Motor neuron disease","Motor neuron disease","X-linked Dominant","Chondrodysplasia punctata, X-linked dominant type:X-linked dominant$Chondrodysplasia Punctata:X-linked dominant","Chondrodysplasia Punctata:X-linked dominant","HIGH","-~-~300272~-","HDAC6"]
["HDAC8","Cornelia de Lange syndrome","De Lange syndrome","X-linked Dominant","De Lange syndrome:X-linked dominant$Wilson-Turner syndrome:X-linked Recessive$Wilson-Turner X-linked mental retardation syndrome:X-linked Recessive","De Lange syndrome:X-linked dominant$Wilson-Turner syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55869[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~300269~-","HDAC8"]
["HDAC8","X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism & craniofacial deformities","De Lange syndrome","X-linked Dominant","De Lange syndrome:X-linked dominant$Wilson-Turner syndrome:X-linked Recessive$Wilson-Turner X-linked mental retardation syndrome:X-linked Recessive","De Lange syndrome:X-linked dominant$Wilson-Turner syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55869[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~300269~-","HDAC8"]
["HDAC8","X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism & craniofacial deformities","Wilson-Turner X-linked mental retardation syndrome","X-linked Recessive","De Lange syndrome:X-linked dominant$Wilson-Turner syndrome:X-linked Recessive$Wilson-Turner X-linked mental retardation syndrome:X-linked Recessive","De Lange syndrome:X-linked dominant$Wilson-Turner syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55869[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~300269~-","HDAC8"]
["HDC","Tourette syndrome","Gilles de la Tourette's syndrome","Autosomal Dominant",null,null,"HIGH","-~-~142704~-","HDC"]
["HDLBP","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~142695~-","HDLBP"]
["HEATR2","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1122~614864~-","HEATR2"]
["HELQ","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~606769~-","HELQ"]
["HEPACAM","Macrocephaly","Macroencephaly","Autosomal Dominant","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=220296[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1535~611642~-","HEPACAM"]
["HEPACAM","Megalencephalic leukoencephalopathy with subcortical cysts","Megalencephalic leukoencephalopathy with subcortical cysts","Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=220296[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1535~611642~-","HEPACAM"]
["HERC2","Global developmental delay and autism spectrum disorder","Global developmental delay;Autism","Autosomal Recessive","Mental retardation:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 1:Modifier","Mental retardation:Autosomal Recessive","HIGH","-~-~605837~-","HERC2"]
["HES6","Decreased expression","NULL","No disease associated PMID 19481584","NULL","NULL","HIGH","-~-~610331~-","HES6"]
["HES6","Decreased expression","NULL","No association with any disorder PMID 19481584","NULL","NULL","HIGH","-~-~610331~-","HES6"]
["HES6","Increased expression","NULL","No disease associated PMID 19481585","NULL","NULL","HIGH","-~-~610331~-","HES6"]
["HES6","Increased expression","NULL","No association with any disorder PMID 19481585","NULL","NULL","HIGH","-~-~610331~-","HES6"]
["HES7","Spondylocostal dysostosis","Jarcho-Levin syndrome","Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84667[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK8828~608059~-","HES7"]
["HESX1","Combined pituitary hormone deficiency","Pituitary Hormone Deficiency, Combined, 5","Autosomal Dominant","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Combined pituitary hormone deficiency","Pituitary Hormone Deficiency, Combined, 5","Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Hypopituitarism with pituitary stalk interruption","Hypopituitarism","Autosomal Dominant","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Isolated growth hormone deficiency","Isolated somatotropin deficiency","Autosomal Dominant","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Panhypopituitarism","Panhypopituitarism","Autosomal Dominant","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Pituitary aplasia","Pituitary aplasia or dysplasia","Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Pituitary hypoplasia","Pituitary gland hypoplasia","Autosomal Dominant","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Pituitary stalk interruption syndrome","Anterior pituitary hyperplasia;Ectopic posterior pituitary","Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Septo-optic dysplasia","Septo-optic dysplasia sequence","Autosomal Dominant","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HESX1","Septo-optic dysplasia","Septo-optic dysplasia sequence","Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Pituitary Hormone Deficiency, Combined, 5:Autosomal Dominant$Pituitary Hormone Deficiency, Combined, 5:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Dominant$Growth Hormone Deficiency With Pituitary Anomalies:Autosomal Recessive$Septo-optic dysplasia sequence:Autosomal Dominant$Septo-optic dysplasia sequence:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8820[geneid]~-~601802~-","HESX1"]
["HEXA","Beta-hexosaminidase pseudodeficiency","Tay-Sachs disease","Autosomal Recessive","GM2 gangliosidosis:Autosomal Recessive$Tay-Sachs disease:Autosomal Recessive","GM2 gangliosidosis:Autosomal Recessive$Tay-Sachs disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3073[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1218~606869~-","HEXA"]
["HEXA","Gangliosidosis GM2","GM2 gangliosidosis","Autosomal Recessive","GM2 gangliosidosis:Autosomal Recessive$Tay-Sachs disease:Autosomal Recessive","GM2 gangliosidosis:Autosomal Recessive$Tay-Sachs disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3073[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1218~606869~-","HEXA"]
["HEXA","Tay-Sachs disease","Tay-Sachs disease","Autosomal Recessive","GM2 gangliosidosis:Autosomal Recessive$Tay-Sachs disease:Autosomal Recessive","GM2 gangliosidosis:Autosomal Recessive$Tay-Sachs disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3073[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1218~606869~-","HEXA"]
["HEXB","Gangliosidosis GM2","GM2 gangliosidosis","Autosomal Recessive","Sandhoff disease:Autosomal Recessive","Sandhoff disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3074[geneid]~-~606873~-","HEXB"]
["HEXB","Heat lability hexosaminidase","Tay-Sachs disease","Autosomal Recessive","Sandhoff disease:Autosomal Recessive","Sandhoff disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3074[geneid]~-~606873~-","HEXB"]
["HEXB","Motor neuron disease","Motor neuron disease","Autosomal Recessive","Sandhoff disease:Autosomal Recessive","Sandhoff disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3074[geneid]~-~606873~-","HEXB"]
["HEXB","Sandhoff disease","Sandhoff disease","Autosomal Recessive","Sandhoff disease:Autosomal Recessive","Sandhoff disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3074[geneid]~-~606873~-","HEXB"]
["HEY1","Altered function","Malignant neoplastic disease","Modifier",null,null,"HIGH","-~-~602953~-","HEY1"]
["HFE","Altered iron status","Hereditary hemochromatosis","Autosomal Recessive","Hemochromatosis:Autosomal Recessive$Serum transferrin:Modifier","Hemochromatosis:Autosomal Recessive$Serum transferrin:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1440~613609~-","HFE"]
["HFE","Diabetes","NULL","Need full text PMID 10612845","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1440~613609~-","HFE"]
["HFE","Haemochromatosis","Hemochromatosis","Autosomal Recessive","Hemochromatosis:Autosomal Recessive$Serum transferrin:Modifier","Hemochromatosis:Autosomal Recessive$Serum transferrin:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1440~613609~-","HFE"]
["HFE","Iron overload","Iron overload","Autosomal Dominant","Hemochromatosis:Autosomal Recessive$Serum transferrin:Modifier","Hemochromatosis:Autosomal Recessive$Serum transferrin:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1440~613609~-","HFE"]
["HFE2","Haemochromatosis","Hemochromatosis","Autosomal Recessive","Hemochromatosis, Type 2A:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=148738[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1170~608374~-","HFE2"]
["HFE2","Hyperferritinaemia","Serum ferritin high","Autosomal Recessive","Hemochromatosis, Type 2A:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=148738[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1170~608374~-","HFE2"]
["HGD","Alkaptonuria","Alkaptonuria","Autosomal Recessive","Alkaptonuria:Autosomal Recessive","Alkaptonuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3081[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1454~607474~-","HGD"]
["HGF","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 39:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3082[geneid]~-~142409~-","HGF"]
["HGF","Lymphoedema","Lymphedema","Risk","Deafness, Autosomal Recessive 39:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3082[geneid]~-~142409~-","HGF"]
["HGSNAT","Mucopolysaccharidosis IIIC","Mucopolysaccharidosis, MPS-III-C","Autosomal Recessive","Mucopolysaccharidosis, MPS-III-C:Autosomal Recessive","Mucopolysaccharidosis, MPS-III-C:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=138050[geneid]~-~610453~-","HGSNAT"]
["HHIP","Pituitary hormone deficiency, combined","Panhypopituitarism","Risk",null,null,"HIGH","-~-~606178~-","HHIP"]
["HIBCH","Neurodegeneration, progressive infantile","Progressive neurodegeneration","Autosomal Recessive","Deficiency of 3-hydroxyisobutyryl CoA hydrolase:Autosomal Recessive","Deficiency of 3-hydroxyisobutyryl CoA hydrolase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26275[geneid]~-~610690~-","HIBCH"]
["HID1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605752~-","HID1"]
["HIGD2A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=192286[geneid]~-~-~-","HIGD2A"]
["HINT1","Axonal neuropathy with neuromyotonia","Isaacs syndrome","Autosomal Recessive","Neuromyotonia and axonal neuropathy, Autosomal Recessive:Autosomal Recessive$Isaacs syndrome:Autosomal Recessive","Isaacs syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3094[geneid]~-~601314~-","HINT1"]
["HIST1H2AE","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602786~-","HIST1H2AE"]
["HIST3H3","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~602820~-","HIST3H3"]
["HIVEP2","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~143054~-","HIVEP2"]
["HK1","Haemolytic anaemia","Hemolytic anemia due to hexokinase deficiency","Autosomal Recessive","Hemolytic anemia due to hexokinase deficiency:Autosomal Recessive$Neuropathy, hereditary motor and sensory, Russe type:Autosomal Recessive","Hemolytic anemia due to hexokinase deficiency:Autosomal Recessive$Neuropathy, hereditary motor and sensory, Russe type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3098[geneid]~-~142600~-","HK1"]
["HK1","Neuropathy, hereditary motor and sensory, Russe type","Neuropathy, hereditary motor and sensory, Russe type","Autosomal Recessive","Hemolytic anemia due to hexokinase deficiency:Autosomal Recessive$Neuropathy, hereditary motor and sensory, Russe type:Autosomal Recessive","Hemolytic anemia due to hexokinase deficiency:Autosomal Recessive$Neuropathy, hereditary motor and sensory, Russe type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3098[geneid]~-~142600~-","HK1"]
["HK2","Diabetes, NIDDM","NULL","No association with disease PMID 7883120","NULL","NULL","HIGH","-~-~601125~-","HK2"]
["HK2","Diabetes, NIDDM","NULL","No association found in PMID 7883120 and 7883123","NULL","NULL","HIGH","-~-~601125~-","HK2"]
["HLA-A","HLA-A low expression allele","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~142800~-","HLA-A"]
["HLA-A","HLA-A null allele","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~142800~-","HLA-A"]
["HLA-A","HLA-A variant","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~142800~-","HLA-A"]
["HLA-B","HLA-B low expression allele","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3106[geneid]~-~142830~-","HLA-B"]
["HLA-B","HLA-B null allele","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3106[geneid]~-~142830~-","HLA-B"]
["HLA-C","Altered expression","Human immunodeficiency virus viral load","Modifier","Human immunodeficiency virus viral load:Modifier","Human immunodeficiency virus viral load:Modifier","HIGH","-~-~142840~-","HLA-C"]
["HLA-C","HLA-C low expression allele","Human immunodeficiency virus viral load","Modifier","Human immunodeficiency virus viral load:Modifier","Human immunodeficiency virus viral load:Modifier","HIGH","-~-~142840~-","HLA-C"]
["HLA-C","HLA-C null allele","Human immunodeficiency virus viral load","Modifier","Human immunodeficiency virus viral load:Modifier","Human immunodeficiency virus viral load:Modifier","HIGH","-~-~142840~-","HLA-C"]
["HLA-DOA","HLA-DOA null allele","NULL","No disease association PMID 16101837","NULL","NULL","HIGH","-~-~142930~-","HLA-DOA"]
["HLA-DOA","HLA-DOA null allele","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~142930~-","HLA-DOA"]
["HLA-DOA","Reduced crossover rate","NULL","No disease association PMID 12089524","NULL","NULL","HIGH","-~-~142930~-","HLA-DOA"]
["HLA-DOA","Reduced crossover rate","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~142930~-","HLA-DOA"]
["HLA-DPB1","Chronic type B viral hepatitis","Chronic type B viral hepatitis","Risk","Chronic berylliosis:Risk","Chronic berylliosis:Risk","HIGH","-~-~142858~-","HLA-DPB1"]
["HLA-DPB1","Null allele","Pauciarticular juvenile rheumatoid arthritis","Risk","Chronic berylliosis:Risk","Chronic berylliosis:Risk","HIGH","-~-~142858~-","HLA-DPB1"]
["HLA-DPB1","Respiratory disease, aspirin-exacerbated","Aspirin-sensitive asthma with nasal polyps","Risk","Chronic berylliosis:Risk","Chronic berylliosis:Risk","HIGH","-~-~142858~-","HLA-DPB1"]
["HLA-DPB1","Sarcoidosis","Sarcoidosis","Risk","Chronic berylliosis:Risk","Chronic berylliosis:Risk","HIGH","-~-~142858~-","HLA-DPB1"]
["HLA-DQA1","Celiac disease ","Celiac disease","Risk","Celiac disease:Risk","Celiac disease:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3117[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1727~146880~-","HLA-DQA1"]
["HLA-DQA1","HLA null allele","NULL","No disease association PMID 15140045","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3117[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1727~146880~-","HLA-DQA1"]
["HLA-DRB1","Altered specificity","NULL","No disease association PMID 14651531","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3123[geneid]~-~142857~-","HLA-DRB1"]
["HLA-DRB1","HLA null allele","NULL","No disease association PMID 17445166","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3123[geneid]~-~142857~-","HLA-DRB1"]
["HLA-DRB1","Rheumatoid arthritis","Rheumatoid arthritis","Risk","Rheumatoid arthritis:Risk$Multiple sclerosis:Risk$Pemphigoid:Risk$Sarcoidosis:Risk","Rheumatoid arthritis:Risk$Multiple sclerosis:Risk$Pemphigoid:Risk$Sarcoidosis:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3123[geneid]~-~142857~-","HLA-DRB1"]
["HLA-DRB5","HLA null allele","NULL","No disease association PMID 9349614","NULL","NULL","HIGH","-~-~604776~-","HLA-DRB5"]
["HLA-DRB5","HLA null allele","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~604776~-","HLA-DRB5"]
["HLA-G","Asthma","Asthma","Risk","Asthma:Risk","Asthma:Risk","HIGH","-~-~142871~-","HLA-G"]
["HLA-G","HLA-G null allele","NULL","No disease association PMID 18937797","NULL","NULL","HIGH","-~-~142871~-","HLA-G"]
["HLCS","Holocarboxylase synthetase deficiency","Biotin-(propionyl-CoA-carboxylase) ligase deficiency","Autosomal Recessive","Biotin-(propionyl-CoA-carboxylase) ligase deficiency:Autosomal Recessive$Holocarboxylase synthetase deficiency:Autosomal Recessive","Biotin-(propionyl-CoA-carboxylase) ligase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3141[geneid]~-~609018~-","HLCS"]
["HLCS","Multiple carboxylase deficiency","Biotin-(propionyl-CoA-carboxylase) ligase deficiency","Autosomal Recessive","Biotin-(propionyl-CoA-carboxylase) ligase deficiency:Autosomal Recessive$Holocarboxylase synthetase deficiency:Autosomal Recessive","Biotin-(propionyl-CoA-carboxylase) ligase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3141[geneid]~-~609018~-","HLCS"]
["HLCS","Reduced biotin affinity","Deficiency of biotin","Risk","Biotin-(propionyl-CoA-carboxylase) ligase deficiency:Autosomal Recessive$Holocarboxylase synthetase deficiency:Autosomal Recessive","Biotin-(propionyl-CoA-carboxylase) ligase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3141[geneid]~-~609018~-","HLCS"]
["HLX","Diaphragmatic hernia, congenital","Congenital diaphragmatic hernia","Autosomal Dominant",null,null,"HIGH","-~-~142995~-","HLX"]
["HMBS","Porphyria, acute intermittent","Acute intermittent porphyria","Autosomal Dominant","Acute intermittent porphyria:Autosomal Dominant$Porphyria, Acute Intermittent, Nonerythroid Variant:Autosomal Dominant","Acute intermittent porphyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3145[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1193~609806~-","HMBS"]
["HMBS","Porphyria, acute intermittent, non-erythroid type","Acute intermittent porphyria","Autosomal Dominant","Acute intermittent porphyria:Autosomal Dominant$Porphyria, Acute Intermittent, Nonerythroid Variant:Autosomal Dominant","Acute intermittent porphyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3145[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1193~609806~-","HMBS"]
["HMCN1","Macular degeneration, age related","Macular Degeneration, Age-Related, 1","Autosomal Recessive","Macular Degeneration, Age-Related, 1:Risk$Age-related macular degeneration:Risk","Age-related macular degeneration:Risk","HIGH","-~-~608548~-","HMCN1"]
["HMCN1","Stargardt disease","Stargardt's disease","Risk","Macular Degeneration, Age-Related, 1:Risk$Age-related macular degeneration:Risk","Age-related macular degeneration:Risk","HIGH","-~-~608548~-","HMCN1"]
["HMGA1","Diabetes mellitus, type 2","Diabetes mellitus type 2;Insulin resistance in diabetes","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~600701~-","HMGA1"]
["HMGCL","3-hydroxy-3-methylglutaric aciduria","Deficiency of hydroxymethylglutaryl-CoA lyase","Autosomal Recessive","Deficiency of hydroxymethylglutaryl-CoA lyase:Autosomal Recessive$HMG CoA lyase deficiency:Autosomal Recessive","Deficiency of hydroxymethylglutaryl-CoA lyase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3155[geneid]~-~613898~-","HMGCL"]
["HMGCL","HMG-CoA lyase deficiency","Deficiency of hydroxymethylglutaryl-CoA lyase","Autosomal Recessive","Deficiency of hydroxymethylglutaryl-CoA lyase:Autosomal Recessive$HMG CoA lyase deficiency:Autosomal Recessive","Deficiency of hydroxymethylglutaryl-CoA lyase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3155[geneid]~-~613898~-","HMGCL"]
["HMGCS2","Mitochondrial HMG-CoA synthase deficiency","3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency","Autosomal Recessive","3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency:Autosomal Recessive","3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3158[geneid]~-~600234~-","HMGCS2"]
["HMHA1","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~601155~-","HMHA1"]
["HMHA1","Graft-versus-host disease","Graft-versus-host disease","Modifier",null,null,"HIGH","-~-~601155~-","HMHA1"]
["HMOX1","Altered p53 binding","Drug Response","Pharmacogenetic","Heme Oxygenase 1 Deficiency:Autosomal Recessive","Heme Oxygenase 1 Deficiency:Autosomal Recessive","HIGH","-~-~141250~-","HMOX1"]
["HMOX1","Haem oxygenase 1 deficiency","Heme Oxygenase 1 Deficiency","Autosomal Recessive","Heme Oxygenase 1 Deficiency:Autosomal Recessive","Heme Oxygenase 1 Deficiency:Autosomal Recessive","HIGH","-~-~141250~-","HMOX1"]
["HMSD","Splice variant","Immunotherapy against Hematologic malignancy","Modifier",null,null,"HIGH","-~-~612086~-","HMSD"]
["HNF1A","Diabetes mellitus, type 1","Diabetes mellitus type 1","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Hepatocellular Adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1A","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Hepatocellular Adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1A","Diabetes, hydronephrosis & renal stone","Diabetes Mellitus, Insulin-Dependent, 20;Hydronephrosis;Kidney stone","Autosomal Dominant","Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Hepatic adenoma:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant","Diabetes mellitus type 1:Autosomal Dominant$Hepatic adenoma:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1A","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Hepatocellular Adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1A","Diabetes, MODY3","Maturity onset diabetes mellitus in young","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Hepatocellular Adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1A","Diabetes, type 2, early-onset","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Hepatocellular Adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1A","Hypoglycaemia, hyperinsulinaemic","Persistent hyperinsulinemic hypoglycemia of infancy","Autosomal Dominant","Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Hepatic adenoma:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant","Diabetes mellitus type 1:Autosomal Dominant$Hepatic adenoma:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1A","Serum C-peptide and insulin response","Serum insulin - C-polypeptide level - reduced","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 20:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Hepatocellular Adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 3:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Liver cell adenoma:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Renal cell carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6927[geneid]~-~142410~-","HNF1A"]
["HNF1B","Antenatal hyperechogenic kidneys","Hyperechogenic kidneys","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Cholestatic jaundice","Cholestatic jaundice syndrome","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Diabetes, early onset, renal dysfunction","Diabetes mellitus;Renal dysfunction","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Diabetes, MODY5","Familial hypoplastic, glomerulocystic kidney","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Diabetic nephropathy","Diabetic renal disease","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","GCKD with early-onset diabetes","Familial hypoplastic, glomerulocystic kidney","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Hyperechogenic kidneys","Hyperechogenic kidneys","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Hyperuricaemic nephropathy","Hyperuricemic nephropathy","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Hypomagnesemia","Hypomagnesemia","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Juvenile hyperuricemic nephropathy, familial","Hyperuricemic Nephropathy, Familial Juvenile 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Kidney and urinary tract abnormalities (CAKUT)","Cakut","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Multicystic kidney disease","Multicystic kidney","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Nephropathy","Kidney disease","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Pancreas hypoplasia & multicystic renal dysplasia","Congenital hypoplasia of pancreas;Multicystic kidney","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Renal carcinoma","Renal cell carcinoma","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Renal cysts and diabetes","Renal cysts and diabetes syndrome","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Renal hypodysplasia","Renal Hypodysplasia, Nonsyndromic, 1","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF1B","Renal tract malformation","Cystic Kidney Diseases","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Non-Insulin-Dependent Diabetes Mellitus:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant$Renal cysts and diabetes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6928[geneid]~-~189907~-","HNF1B"]
["HNF4A","Altered micro-RNA binding","NULL","No disease association PMID 22140441","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["HNF4A","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["HNF4A","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["HNF4A","Diabetes, MODY1","Maturity onset diabetes mellitus in young","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["HNF4A","Hypoglycaemia, hyperinsulinaemic","Hyperinsulinemic hypoglycemia","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["HNRNPA1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~164017~-","HNRNPA1"]
["HNRNPA1","Paget disease of bone and myopathy","Myopathy, Desmin-Related;Osteitis Deformans","Autosomal Dominant","Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~164017~-","HNRNPA1"]
["HNRNPA2B1","Multisystem proteinopathy and amyotrophic lateral sclerosis","Multisystem proteinopathy and amyotrophic lateral sclerosis","Autosomal Dominant","Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2:Autosomal Dominant","Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2:Autosomal Dominant","HIGH","-~-~600124~-","HNRNPA2B1"]
["HOMEZ","Ventricular septal defect","Ventricular septal defect","Autosomal Dominant","Ventricular septal defect:Autosomal Dominant","Ventricular septal defect:Autosomal Dominant","HIGH","-~-~608119~-","HOMEZ"]
["HORMAD1","Azoospermia","Azoospermia","Risk","Primary spermatogenic failure:Risk","Primary spermatogenic failure:Risk","HIGH","-~-~609824~-","HORMAD1"]
["HOXA1","Athabaskan brainstem dysgenesis syndrome, ABDS","Athabaskan brainstem dysgenesis","Autosomal Recessive","Athabaskan brainstem dysgenesis:Autosomal Recessive$Bosley-Salih-Alorainy Syndrome:Autosomal Recessive","Athabaskan brainstem dysgenesis:Autosomal Recessive$Bosley-Salih-Alorainy Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3198[geneid]~-~142955~-","HOXA1"]
["HOXA1","Bosley-Salih-Alorainy syndrome, BSAS","Bosley-Salih-Alorainy Syndrome","Autosomal Recessive","Athabaskan brainstem dysgenesis:Autosomal Recessive$Bosley-Salih-Alorainy Syndrome:Autosomal Recessive","Athabaskan brainstem dysgenesis:Autosomal Recessive$Bosley-Salih-Alorainy Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3198[geneid]~-~142955~-","HOXA1"]
["HOXA10","Genital malformations","Congenital malformation of genital organs","Risk",null,null,"HIGH","-~-~142957~-","HOXA10"]
["HOXA10","Genitourinary malformations","Genitourinary congenital anomalies","Risk",null,null,"HIGH","-~-~142957~-","HOXA10"]
["HOXA10","Mulleran duct anomaly","Mulleran duct anomaly","Risk",null,null,"HIGH","-~-~142957~-","HOXA10"]
["HOXA11","Amegakaryocytic thrombocytopaenia","Amegakaryocytic thrombocytopenia","Autosomal Dominant","Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia:Autosomal Dominant","Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia:Autosomal Dominant","HIGH","-~-~142958~-","HOXA11"]
["HOXA13","Guttmacher syndrome","Preaxial deficiency, postaxial polydactyly and hypospadias","Autosomal Dominant","Preaxial deficiency, postaxial polydactyly and hypospadias:Autosomal Dominant$Hand foot uterus syndrome:Autosomal Dominant","Preaxial deficiency, postaxial polydactyly and hypospadias:Autosomal Dominant$Hand foot uterus syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1423~142959~-","HOXA13"]
["HOXA13","Hand-foot-genital syndrome","Hand foot uterus syndrome","Autosomal Dominant","Preaxial deficiency, postaxial polydactyly and hypospadias:Autosomal Dominant$Hand foot uterus syndrome:Autosomal Dominant","Preaxial deficiency, postaxial polydactyly and hypospadias:Autosomal Dominant$Hand foot uterus syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1423~142959~-","HOXA13"]
["HOXA2","Microtia","Microtia, hearing impairment, and cleft palate","Autosomal Recessive","Microtia:Autosomal Dominant$Microtia, hearing impairment, and cleft palate:Autosomal Recessive","Microtia:Autosomal Dominant$Microtia, hearing impairment, and cleft palate:Autosomal Recessive","HIGH","-~-~604685~-","HOXA2"]
["HOXA4","Hypospadias","Hypospadias","Autosomal Dominant",null,null,"HIGH","-~-~142953~-","HOXA4"]
["HOXB1","Bilateral facial palsy, hearing loss & strabismus","Facial paresis, hereditary, congenital","Autosomal Recessive","Facial paresis, hereditary, congenital:Autosomal Recessive","Facial paresis, hereditary, congenital:Autosomal Recessive","HIGH","-~-~142968~-","HOXB1"]
["HOXB13","Prostate cancer, increased risk","Malignant tumor of prostate","Risk",null,null,"HIGH","-~-~604607~-","HOXB13"]
["HOXB6","Hypospadias","Hypospadias","Autosomal Dominant",null,null,"HIGH","-~-~142961~-","HOXB6"]
["HOXC13","Ectodermal dysplasia, hair-nail type","Ectodermal Dysplasia, Pure Hair-Nail Type","Autosomal Recessive","Ectodermal Dysplasia, Pure Hair-Nail Type:Autosomal Recessive","Ectodermal Dysplasia, Pure Hair-Nail Type:Autosomal Recessive","HIGH","-~-~142976~-","HOXC13"]
["HOXD10","Vertical talus and Charcot-Marie-Tooth disease","Congenital vertical talus;Charcot-Marie-Tooth Disease, Foot Deformity of","Autosomal Dominant","Charcot-Marie-Tooth Disease, Foot Deformity of:Autosomal Dominant$Congenital vertical talus:Autosomal Dominant","Charcot-Marie-Tooth Disease, Foot Deformity of:Autosomal Dominant$Congenital vertical talus:Autosomal Dominant","HIGH","-~-~142984~-","HOXD10"]
["HOXD13","Brachydactyly","Brachydactyly, Type D","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type D:Autosomal Dominant$Brachydactyly, Type E:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly, type V:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$Synpolydactyly 2:Autosomal Dominant$VACTERL association:Autosomal Dominant$Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$VACTERL association:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3239[geneid]~-~142989~-","HOXD13"]
["HOXD13","Brachydactyly","Brachydactyly, Type E","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type D:Autosomal Dominant$Brachydactyly, Type E:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly, type V:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$Synpolydactyly 2:Autosomal Dominant$VACTERL association:Autosomal Dominant$Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$VACTERL association:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3239[geneid]~-~142989~-","HOXD13"]
["HOXD13","Brachydactyly-Syndactyly Syndrome","Brachydactyly-Syndactyly Syndrome","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type D:Autosomal Dominant$Brachydactyly, Type E:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly, type V:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$Synpolydactyly 2:Autosomal Dominant$VACTERL association:Autosomal Dominant$Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$VACTERL association:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3239[geneid]~-~142989~-","HOXD13"]
["HOXD13","Limb malformation","Synpolydactyly With Foot Anomalies","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type D:Autosomal Dominant$Brachydactyly, Type E:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly, type V:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$Synpolydactyly 2:Autosomal Dominant$VACTERL association:Autosomal Dominant$Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$VACTERL association:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3239[geneid]~-~142989~-","HOXD13"]
["HOXD13","Syndactyly V","Syndactyly, type V","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type D:Autosomal Dominant$Brachydactyly, Type E:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly, type V:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$Synpolydactyly 2:Autosomal Dominant$VACTERL association:Autosomal Dominant$Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$VACTERL association:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3239[geneid]~-~142989~-","HOXD13"]
["HOXD13","Synpolydactyly","Synpolydactyly 1","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type D:Autosomal Dominant$Brachydactyly, Type E:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly, type V:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$Synpolydactyly 2:Autosomal Dominant$VACTERL association:Autosomal Dominant$Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$VACTERL association:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3239[geneid]~-~142989~-","HOXD13"]
["HOXD13","Synpolydactyly","Synpolydactyly With Foot Anomalies","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type D:Autosomal Dominant$Brachydactyly, Type E:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly, type V:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$Synpolydactyly 2:Autosomal Dominant$VACTERL association:Autosomal Dominant$Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly-Syndactyly Syndrome:Autosomal Dominant$Syndactyly:Autosomal Dominant$Synpolydactyly With Foot Anomalies:Autosomal Dominant$VACTERL association:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3239[geneid]~-~142989~-","HOXD13"]
["HOXD4","Acute lymphoblastic leukaemia","Acute lymphoid leukemia, disease","Risk","Acute lymphoid leukemia, disease:Risk","Acute lymphoid leukemia, disease:Risk","HIGH","-~-~142981~-","HOXD4"]
["HP","Anhaptoglobinaemia","Anhaptoglobinemia;Hypohaptoglobinemia","Autosomal Recessive","Anhaptoglobinemia:Autosomal Recessive$Hypohaptoglobinemia:Autosomal Recessive","Anhaptoglobinemia:Autosomal Recessive$Hypohaptoglobinemia:Autosomal Recessive","HIGH","-~-~140100~-","HP"]
["HPD","Hawkinsinuria","Hawkinsinuria","Autosomal Dominant","Hawkinsinuria:Autosomal Dominant$Tyrosinemia type III:Autosomal Recessive$Tyrosinemia:Autosomal Recessive","Hawkinsinuria:Autosomal Dominant$Tyrosinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3242[geneid]~-~609695~-","HPD"]
["HPD","Tyrosinaemia 3","Tyrosinemia type III","Autosomal Recessive","Hawkinsinuria:Autosomal Dominant$Tyrosinemia type III:Autosomal Recessive$Tyrosinemia:Autosomal Recessive","Hawkinsinuria:Autosomal Dominant$Tyrosinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3242[geneid]~-~609695~-","HPD"]
["HPGD","Cranioosteoarthropathy","Cranioosteoarthropathy","Autosomal Recessive","Cranioosteoarthropathy:Autosomal Recessive$Digital Clubbing, Isolated Congenital:Autosomal Dominant$Pachydermoperiostosis syndrome :Autosomal Recessive$Primary Hypertrophic Osteoarthropathy:Autosomal Recessive","Cranioosteoarthropathy:Autosomal Recessive$Digital Clubbing, Isolated Congenital:Autosomal Dominant$Pachydermoperiostosis syndrome :Autosomal Recessive$Primary Hypertrophic Osteoarthropathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3248[geneid]~-~601688~-","HPGD"]
["HPGD","Nail clubbing","Digital Clubbing, Isolated Congenital","Autosomal Recessive","Cranioosteoarthropathy:Autosomal Recessive$Digital Clubbing, Isolated Congenital:Autosomal Dominant$Pachydermoperiostosis syndrome :Autosomal Recessive$Primary Hypertrophic Osteoarthropathy:Autosomal Recessive","Cranioosteoarthropathy:Autosomal Recessive$Digital Clubbing, Isolated Congenital:Autosomal Dominant$Pachydermoperiostosis syndrome :Autosomal Recessive$Primary Hypertrophic Osteoarthropathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3248[geneid]~-~601688~-","HPGD"]
["HPGD","Osteoarthropathy, hypertrophic","Hypertrophic osteoarthropathy","Autosomal Recessive","Cranioosteoarthropathy:Autosomal Recessive$Digital Clubbing, Isolated Congenital:Autosomal Dominant$Pachydermoperiostosis syndrome :Autosomal Recessive$Primary Hypertrophic Osteoarthropathy:Autosomal Recessive","Cranioosteoarthropathy:Autosomal Recessive$Digital Clubbing, Isolated Congenital:Autosomal Dominant$Pachydermoperiostosis syndrome :Autosomal Recessive$Primary Hypertrophic Osteoarthropathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3248[geneid]~-~601688~-","HPGD"]
["HPRT1","Hyperuricaemia","Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Hyperuricemia","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Hyperuricaemia with neurologic symptoms","Hyperuricemia;Neurological symptom","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Hyperuricaemia without neurologic symptoms","Hyperuricemia","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Hypoxanthine guanine phosphoribosyltransferase deficiency","Hypoxanthine-guanine phosphoribosyltransferase deficiency","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Inherited metabolic disease","Metabolic disease","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Lesch-Nyhan syndrome","Lesch-Nyhan syndrome","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Lesch-Nyhan syndrome, female","Lesch-Nyhan syndrome","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Lesch-Nyhan syndrome, variant","Lesch-Nyhan syndrome","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Nephrolithiasis","Nephrolithiasis","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPRT1","Neurological dysfunction","Neurological symptom","X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","Gout, HPRT-Related:X-linked Recessive$Partial hypoxanthine-guanine phosphoribosyltransferase deficiency:X-linked Recessive$Lesch-Nyhan syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1149~308000~-","HPRT1"]
["HPS1","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells:Autosomal Recessive$Hermansky-Pudlak syndrome:Autosomal Recessive","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells:Autosomal Recessive$Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3257[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1287~604982~-","HPS1"]
["HPS3","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~606118~-","HPS3"]
["HPS4","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~606682~-","HPS4"]
["HPS5","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~607521~-","HPS5"]
["HPS6","Albinism, oculocutaneous","Oculocutaneous albinism","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~607522~-","HPS6"]
["HPS6","Hermansky-Pudlak syndrome","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~607522~-","HPS6"]
["HPS6","Hermansky-Pudlak syndrome 6","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~607522~-","HPS6"]
["HPSE2","Urofacial syndrome","Ochoa syndrome","Autosomal Recessive","Urofacial syndrome:Autosomal Recessive$Ochoa syndrome:Autosomal Recessive","Ochoa syndrome:Autosomal Recessive","HIGH","-~-~613469~-","HPSE2"]
["HR","Alopecia universalis","Alopecia universalis","Autosomal Recessive","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Marie Unna Hereditary Hypotrichosis 1:Autosomal Dominant$Hypotrichosis:Autosomal Dominant","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Hypotrichosis:Autosomal Dominant","HIGH","-~-~602302~-","HR"]
["HR","Alopecia universalis and limb deformities","Alopecia universalis;Deformity of limb","Autosomal Recessive","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Marie Unna Hereditary Hypotrichosis 1:Autosomal Dominant$Hypotrichosis:Autosomal Dominant","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Hypotrichosis:Autosomal Dominant","HIGH","-~-~602302~-","HR"]
["HR","Atrichia with papular lesions","Atrichia with Papular Lesions","Autosomal Recessive","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Marie Unna Hereditary Hypotrichosis 1:Autosomal Dominant$Hypotrichosis:Autosomal Dominant","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Hypotrichosis:Autosomal Dominant","HIGH","-~-~602302~-","HR"]
["HR","Congenital atrichia","Atrichia","Autosomal Recessive","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Marie Unna Hereditary Hypotrichosis 1:Autosomal Dominant$Hypotrichosis:Autosomal Dominant","Alopecia universalis:Autosomal Recessive$Atrichia with Papular Lesions:Autosomal Recessive$Hypotrichosis:Autosomal Dominant","HIGH","-~-~602302~-","HR"]
["HRAS","Congenital myopathy with excess of muscle spindles","Myopathy, Congenital, With Excess Of Muscle Spindles","Autosomal Dominant","Myopathy, Congenital, With Excess Of Muscle Spindles:Autosomal Dominant$Costello syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism","Myopathy, Congenital, With Excess Of Muscle Spindles:Autosomal Dominant$Costello syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3265[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1507~190020~-","HRAS"]
["HRAS","Costello syndrome","Costello syndrome","Autosomal Dominant","Myopathy, Congenital, With Excess Of Muscle Spindles:Autosomal Dominant$Costello syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism","Myopathy, Congenital, With Excess Of Muscle Spindles:Autosomal Dominant$Costello syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3265[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1507~190020~-","HRAS"]
["HRAS","Costello-like syndrome","Costello syndrome","Autosomal Dominant","Myopathy, Congenital, With Excess Of Muscle Spindles:Autosomal Dominant$Costello syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism","Myopathy, Congenital, With Excess Of Muscle Spindles:Autosomal Dominant$Costello syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3265[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1507~190020~-","HRAS"]
["HRG","Histidine-rich glycoprotein deficiency","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency","Autosomal Dominant","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Thrombophilia:Autosomal Dominant","HIGH","-~-~142640~-","HRG"]
["HRG","Poor pregnancy outcome in IVF","In vitro fertilization pregnancy","Modifier","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Thrombophilia:Autosomal Dominant","HIGH","-~-~142640~-","HRG"]
["HS6ST1","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9394[geneid]~-~604846~-","HS6ST1"]
["HS6ST1","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9394[geneid]~-~604846~-","HS6ST1"]
["HSD11B1","Cortisone reductase deficiency","Deficiency of (R)-20-hydroxysteroid dehydrogenase","Autosomal Dominant","Deficiency of (R)-20-hydroxysteroid dehydrogenase:Autosomal Dominant$Cortisone reductase deficiency:Autosomal Dominant","Deficiency of (R)-20-hydroxysteroid dehydrogenase:Autosomal Dominant","HIGH","-~-~600713~-","HSD11B1"]
["HSD11B2","Apparent mineralocorticoid excess","Syndrome of apparent mineralocorticoid excess","Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3291[geneid]~-~614232~-","HSD11B2"]
["HSD11B2","Hypertension","Essential hypertension","Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3291[geneid]~-~614232~-","HSD11B2"]
["HSD11B2","Hypertension, hypokalemic","Essential hypertension","Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3291[geneid]~-~614232~-","HSD11B2"]
["HSD11B2","Hypertension, hypokalemic","Hypokalemia","Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3291[geneid]~-~614232~-","HSD11B2"]
["HSD11B2","Reduced expression","Essential hypertension","Autosomal Dominant","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","Syndrome of apparent mineralocorticoid excess:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3291[geneid]~-~614232~-","HSD11B2"]
["HSD17B10","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency","Hydroxyacyl-coa dehydrogenase, type 2, deficiency","X-linked Dominant","2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency:X-linked dominant$Hydroxyacyl-coa dehydrogenase, type 2, deficiency:X-linked dominant$Mental retardation, X-linked syndromic 10:X-linked Recessive$Mental retardation:X-linked Recessive","Hydroxyacyl-coa dehydrogenase, type 2, deficiency:X-linked dominant$Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3028[geneid]~-~300256~-","HSD17B10"]
["HSD17B10","Epilepsy, choreoathetosis & mental retardation, X-linked","Mental Retardation, X-Linked","X-linked Recessive","2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency:X-linked dominant$Hydroxyacyl-coa dehydrogenase, type 2, deficiency:X-linked dominant$Mental retardation, X-linked syndromic 10:X-linked Recessive$Mental retardation:X-linked Recessive","Hydroxyacyl-coa dehydrogenase, type 2, deficiency:X-linked dominant$Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3028[geneid]~-~300256~-","HSD17B10"]
["HSD17B10","X-linked mental retardation","Mental Retardation, X-Linked","X-linked Recessive","2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency:X-linked dominant$Hydroxyacyl-coa dehydrogenase, type 2, deficiency:X-linked dominant$Mental retardation, X-linked syndromic 10:X-linked Recessive$Mental retardation:X-linked Recessive","Hydroxyacyl-coa dehydrogenase, type 2, deficiency:X-linked dominant$Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3028[geneid]~-~300256~-","HSD17B10"]
["HSD17B2","Reduced enzyme stability","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~109685~-","HSD17B2"]
["HSD17B3","17 beta-hydroxysteroid dehydrogenase 3 deficiency","3 beta-Hydroxysteroid dehydrogenase deficiency","Autosomal Recessive","Testosterone 17-beta-dehydrogenase deficiency:Autosomal Recessive$17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3293[geneid]~-~605573~-","HSD17B3"]
["HSD17B3","Pseudohermaphroditism","Pseudohermaphroditism","Autosomal Recessive","Testosterone 17-beta-dehydrogenase deficiency:Autosomal Recessive$17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3293[geneid]~-~605573~-","HSD17B3"]
["HSD17B3","Pseudohermaphroditism, male","Male pseudohermaphroditism","Autosomal Recessive","Testosterone 17-beta-dehydrogenase deficiency:Autosomal Recessive$17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3293[geneid]~-~605573~-","HSD17B3"]
["HSD17B3","Sexual ambiguity","Pseudohermaphroditism","Autosomal Recessive","Testosterone 17-beta-dehydrogenase deficiency:Autosomal Recessive$17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","17-Hydroxysteroid Dehydrogenase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3293[geneid]~-~605573~-","HSD17B3"]
["HSD17B4","D-bifunctional protein deficiency","Bifunctional peroxisomal enzyme deficiency","Autosomal Recessive","Bifunctional peroxisomal enzyme deficiency:Autosomal Recessive$Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance:Autosomal Recessive$Gonadal dysgenesis XX type deafness:Autosomal Recessive","Bifunctional peroxisomal enzyme deficiency:Autosomal Recessive$Gonadal dysgenesis XX type deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3295[geneid]~-~601860~-","HSD17B4"]
["HSD17B4","Peroxisome biogenesis disorder","Peroxisome Biogenesis Disorder","Autosomal Recessive","Bifunctional peroxisomal enzyme deficiency:Autosomal Recessive$Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance:Autosomal Recessive$Gonadal dysgenesis XX type deafness:Autosomal Recessive","Bifunctional peroxisomal enzyme deficiency:Autosomal Recessive$Gonadal dysgenesis XX type deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3295[geneid]~-~601860~-","HSD17B4"]
["HSD17B4","Perrault syndrome","Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance","Autosomal Recessive","Bifunctional peroxisomal enzyme deficiency:Autosomal Recessive$Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance:Autosomal Recessive$Gonadal dysgenesis XX type deafness:Autosomal Recessive","Bifunctional peroxisomal enzyme deficiency:Autosomal Recessive$Gonadal dysgenesis XX type deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3295[geneid]~-~601860~-","HSD17B4"]
["HSD3B1","Reduced protein expression","Essential hypertension","Autosomal Recessive",null,null,"HIGH","-~-~109715~-","HSD3B1"]
["HSD3B2","3 beta-hydroxysteroid dehydrogenase deficiency","3 beta-Hydroxysteroid dehydrogenase deficiency","Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3284[geneid]~-~613890~-","HSD3B2"]
["HSD3B2","Adrenal hyperplasia","Adrenal hyperplasia","Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3284[geneid]~-~613890~-","HSD3B2"]
["HSD3B2","Idiopathic hypospadias","Hypospadias","Autosomal Dominant","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3284[geneid]~-~613890~-","HSD3B2"]
["HSD3B2","Pseudohermaphroditism","Pseudohermaphroditism","Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3284[geneid]~-~613890~-","HSD3B2"]
["HSD3B7","3 beta-hydroxysteroid dehydrogenase deficiency","3 beta-Hydroxysteroid dehydrogenase deficiency","Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive$Bile acid synthesis defect, congenital, 1:Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive$Bile acid synthesis defect, congenital, 1:Autosomal Recessive","HIGH","-~-~607764~-","HSD3B7"]
["HSD3B7","3 beta-hydroxysteroid oxidoreductase deficiency","Cholestasis in newborn","Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive$Bile acid synthesis defect, congenital, 1:Autosomal Recessive","3 beta-Hydroxysteroid dehydrogenase deficiency:Autosomal Recessive$Bile acid synthesis defect, congenital, 1:Autosomal Recessive","HIGH","-~-~607764~-","HSD3B7"]
["HSF2","Idiopathic azoospermia","Azoospermia","Autosomal Dominant","Azoospermia:Autosomal Dominant","Azoospermia:Autosomal Dominant","HIGH","-~-~140581~-","HSF2"]
["HSF4","Cataract, age-related","Cataract, age related","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~602438~-","HSF4"]
["HSF4","Cataract, Autosomal Recessive","Cataract","Autosomal Recessive","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~602438~-","HSF4"]
["HSF4","Cataract, lamellar","Congenital lamellar cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~602438~-","HSF4"]
["HSF4","Cataract, marner","Cataract, Marner Type","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~602438~-","HSF4"]
["HSF4","Cataract, total white","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~602438~-","HSF4"]
["HSP90AA1","Reduced dimerization","NULL","No disease association PMID 19130193","NULL","NULL","HIGH","-~-~140571~-","HSP90AA1"]
["HSP90AA1","Reduced dimerization","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~140571~-","HSP90AA1"]
["HSPA9","Parkinson disease","Parkinson's disease","Risk",null,null,"HIGH","-~-~600548~-","HSPA9"]
["HSPB1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2F:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Recessive$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602195~-","HSPB1"]
["HSPB1","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, Type 2F","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2F:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Recessive$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602195~-","HSPB1"]
["HSPB1","Charcot-Marie-Tooth disease, axonal, type 2F","Charcot-Marie-Tooth disease, Type 2F","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2F:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Recessive$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602195~-","HSPB1"]
["HSPB1","Distal motor neuropathy / Charcot-Marie-Tooth disease 2","Neuronopathy, Distal Hereditary Motor, Type IIB","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2F:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Recessive$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602195~-","HSPB1"]
["HSPB1","Neuropathy, distal hereditary motor","Neuronopathy, Distal Hereditary Motor, Type IIB","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2F:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Recessive$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602195~-","HSPB1"]
["HSPB1","Peripheral neuropathy, early-onset","Peripheral Neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2F:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Dominant$Neuronopathy, Distal Hereditary Motor, Type IIB:Autosomal Recessive$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602195~-","HSPB1"]
["HSPB3","Motor neuropathy","Neuropathy, Distal Hereditary Motor","Autosomal Dominant","Neuropathy, Distal Hereditary Motor:Autosomal Dominant","Neuropathy, Distal Hereditary Motor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8988[geneid]~-~604624~-","HSPB3"]
["HSPB6","Impaired cardioprotective effects","Dilated cardiomyopathy","Risk",null,null,"HIGH","-~-~610695~-","HSPB6"]
["HSPB8","Charcot-Marie-Tooth disease 2L","Charcot-Marie-Tooth disease, Type 2L","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2L:Autosomal Dominant$Neuropathy, Distal Hereditary Motor, Type IIA:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26353[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~608014~-","HSPB8"]
["HSPB8","Neuropathy, distal hereditary motor, type II","Neuropathy, Distal Hereditary Motor","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2L:Autosomal Dominant$Neuropathy, Distal Hereditary Motor, Type IIA:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Neuropathy, Distal Hereditary Motor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26353[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~608014~-","HSPB8"]
["HSPD1","Leukodystrophy, Hypomyelinating, 4","Leukodystrophy, Hypomyelinating, 4","Autosomal Recessive","Leukodystrophy, Hypomyelinating, 4:Autosomal Recessive$Spastic paraplegia 13, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Leukodystrophy, Hypomyelinating, 4:Autosomal Recessive$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3329[geneid]~-~118190~-","HSPD1"]
["HSPD1","Spastic paraplegia","Spastic paraplegia","Autosomal Dominant","Leukodystrophy, Hypomyelinating, 4:Autosomal Recessive$Spastic paraplegia 13, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Leukodystrophy, Hypomyelinating, 4:Autosomal Recessive$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3329[geneid]~-~118190~-","HSPD1"]
["HSPG2","Dyssegmental dysplasia, Silverman-Handmaker type","Lethal Kniest-like syndrome","Autosomal Recessive","Lethal Kniest-like syndrome:Autosomal Recessive$Schwartz Jampel Syndrome, Type 1:Autosomal Recessive$Schwartz Jampel syndrome:Autosomal Recessive","Lethal Kniest-like syndrome:Autosomal Recessive$Schwartz Jampel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3339[geneid]~-~142461~-","HSPG2"]
["HSPG2","Schwartz-Jampel syndrome type 1","Schwartz-Jampel syndrome","Autosomal Recessive","Lethal Kniest-like syndrome:Autosomal Recessive$Schwartz Jampel Syndrome, Type 1:Autosomal Recessive$Schwartz Jampel syndrome:Autosomal Recessive","Lethal Kniest-like syndrome:Autosomal Recessive$Schwartz Jampel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3339[geneid]~-~142461~-","HSPG2"]
["HTN3","Histatin 2 deficiency","NULL","No disease association PMID 7951254","NULL","NULL","HIGH","-~-~142702~-","HTN3"]
["HTN3","Histatin 2 deficiency","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~142702~-","HTN3"]
["HTR1A","Attenuated agonist-mediated receptor down-regulation and desensitization","Drug Response","Pharmacogenetic","Periodic fever, menstrual cycle dependent:Autosomal Dominant","Periodic fever, menstrual cycle dependent:Autosomal Dominant","HIGH","-~-~109760~-","HTR1A"]
["HTR1A","Reduced expression","Drug Response","Pharmacogenetic","Periodic fever, menstrual cycle dependent:Autosomal Dominant","Periodic fever, menstrual cycle dependent:Autosomal Dominant","HIGH","-~-~109760~-","HTR1A"]
["HTR1A","Tourette syndrome","NULL","Need full text PMID 8645269","NULL","NULL","HIGH","-~-~109760~-","HTR1A"]
["HTR1B","Receptor variant","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~182131~-","HTR1B"]
["HTR2A","Altered affinity for atypical antipsychotic drugs","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~182135~-","HTR2A"]
["HTR2A","Altered potency of atypical antipsychotic drugs","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~182135~-","HTR2A"]
["HTR2B","Pulmonary hypertension, primary","Fenfluramine associated Primary pulmonary hypertension","Risk",null,null,"HIGH","-~-~601122~-","HTR2B"]
["HTR3A","Impaired function","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~182139~-","HTR3A"]
["HTR3A","Schizophrenia","NULL","No significant disease association PMID 11207027","NULL","NULL","HIGH","-~-~182139~-","HTR3A"]
["HTR3A","Schizophrenia","NULL","Negated by PMID 11207027","NULL","NULL","HIGH","-~-~182139~-","HTR3A"]
["HTR3B","Altered receptor function","Major depressive disorder","Decreased Risk",null,null,"HIGH","-~-~604654~-","HTR3B"]
["HTR7","Receptor variant","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~182137~-","HTR7"]
["HTRA1","CARASIL","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy","Autosomal Recessive","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:Autosomal Recessive","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK32533~602194~-","HTRA1"]
["HTRA1","CARASIL without alopecia","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy","Autosomal Recessive","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:Autosomal Recessive","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK32533~602194~-","HTRA1"]
["HTRA1","Macular degeneration, age related, neovascular, reduced risk","Exudative age-related macular degeneration","Risk","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:Autosomal Recessive","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK32533~602194~-","HTRA1"]
["HTRA2","Parkinson disease","Parkinson's disease","Autosomal Dominant","Parkinson Disease 13:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27429[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223~606441~-","HTRA2"]
["HUWE1","Autism","Autistic Disorder","Risk","Mental Retardation, X-Linked, Syndromic, Turner Type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10075[geneid]~-~300697~-","HUWE1"]
["HUWE1","Congenital heart disease","Congenital heart disease","Risk","Mental Retardation, X-Linked, Syndromic, Turner Type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10075[geneid]~-~300697~-","HUWE1"]
["HUWE1","Macrocephaly","Macrocephaly","X-linked Dominant","Mental Retardation, X-Linked, Syndromic, Turner Type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10075[geneid]~-~300697~-","HUWE1"]
["HUWE1","Mental retardation, X-linked","Mental Retardation, X-Linked, Syndromic, Turner Type","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Turner Type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10075[geneid]~-~300697~-","HUWE1"]
["HYAL1","Mucopolysaccharidosis IX","Deficiency of hyaluronoglucosaminidase","Autosomal Recessive","Deficiency of hyaluronoglucosaminidase:Autosomal Recessive$Hyaluronidase Deficiency:Autosomal Recessive","Deficiency of hyaluronoglucosaminidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3373[geneid]~-~607071~-","HYAL1"]
["HYDIN","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 5:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1122~610812~-","HYDIN"]
["HYLS1","Hydrolethalus syndrome","Hydrolethalus syndrome","Autosomal Recessive","Deficiency of hyaluronoglucosaminidase:Autosomal Recessive$Hyaluronidase Deficiency:Autosomal Recessive","Deficiency of hyaluronoglucosaminidase:Autosomal Recessive","HIGH","-~-~610693~-","HYLS1"]
["IAPP","Diabetes, NIDDM","Diabetes mellitus type 2","Autosomal Dominant",null,null,"HIGH","-~-~147940~-","IAPP"]
["IBA57","Myopathy and encephalopathy","Multiple Mitochondrial Dysfunctions Syndrome","Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive",null,"-~-~615316~-","IBA57"]
["ICAM1","Increased protein stability","NULL","No disease association PMID 18820595","NULL","NULL","HIGH","-~-~147840~-","ICAM1"]
["ICAM1","Reduced protein stability","NULL","No disease association PMID 18820595","NULL","NULL","HIGH","-~-~147840~-","ICAM1"]
["ICAM4","Blood group variation","Antigen in LW blood group system","Risk","Antigen in LW blood group system:Risk","Antigen in LW blood group system:Risk","HIGH","-~-~614088~-","ICAM4"]
["ICK","Endocrine-cerebro-osteodysplasia","Endocrine-Cerebroosteodysplasia","Autosomal Recessive","Endocrine-Cerebroosteodysplasia:Autosomal Recessive","Endocrine-Cerebroosteodysplasia:Autosomal Recessive","HIGH","-~-~612325~-","ICK"]
["ICOS","Decreased mRNA levels","NULL","No disease association PMID 16996590","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29851[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604558~-","ICOS"]
["ICOS","Immunodeficiency, common variable","Common variable agammaglobulinemia","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29851[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604558~-","ICOS"]
["IDH1","Osteoarthritis, early-onset","Early onset osteoarthritis","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3417[geneid]~-~147700~-","IDH1"]
["IDH2","D-2-hydroxyglutaric aciduria, type II","D-2-hydroxyglutaric aciduria 2","Autosomal Dominant","D-2-hydroxyglutaric aciduria 2:Autosomal Dominant","D-2-hydroxyglutaric aciduria 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3418[geneid]~-~147650~-","IDH2"]
["IDH3B","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis Pigmentosa 46:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3420[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604526~-","IDH3B"]
["IDO1","Cataract, age related","Senile cataract","Autosomal Dominant",null,null,"HIGH","-~-~147435~-","IDO1"]
["IDO1","Reduced protein expression","Immunologic tolerance, function","Modifier",null,null,"HIGH","-~-~147435~-","IDO1"]
["IDS","Mucopolysaccharidosis II","Mucopolysaccharidosis, MPS-II","X-linked Recessive","Mucopolysaccharidosis II:X-linked Recessive$Mucopolysaccharidosis, MPS-II:X-linked Recessive","Mucopolysaccharidosis, MPS-II:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3423[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1274~300823~-","IDS"]
["IDUA","Alpha-L-iduronidase pseudodeficiency","Mucopolysaccharidosis, MPS-I;Mucopolysaccharidosis, MPS-II","Autosomal Recessive","Mucopolysaccharidosis, MPS-I-H:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-H/S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I:Autosomal Recessive","Mucopolysaccharidosis, MPS-I:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3425[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1162~252800~-","IDUA"]
["IDUA","Hurler syndrome","Mucopolysaccharidosis, MPS-I-H","Autosomal Recessive","Mucopolysaccharidosis, MPS-I-H:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-H/S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I:Autosomal Recessive","Mucopolysaccharidosis, MPS-I:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3425[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1162~252800~-","IDUA"]
["IDUA","Hurler-Scheie syndrome","Mucopolysaccharidosis, MPS-I-H/S","Autosomal Recessive","Mucopolysaccharidosis, MPS-I-H:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-H/S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I:Autosomal Recessive","Mucopolysaccharidosis, MPS-I:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3425[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1162~252800~-","IDUA"]
["IDUA","Mucopolysaccharidosis I","Mucopolysaccharidosis, MPS-I","Autosomal Recessive","Mucopolysaccharidosis, MPS-I-H:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-H/S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I:Autosomal Recessive","Mucopolysaccharidosis, MPS-I:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3425[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1162~252800~-","IDUA"]
["IDUA","Scheie syndrome","Mucopolysaccharidosis, MPS-I-S","Autosomal Recessive","Mucopolysaccharidosis, MPS-I-H:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-H/S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I-S:Autosomal Recessive$Mucopolysaccharidosis, MPS-I:Autosomal Recessive","Mucopolysaccharidosis, MPS-I:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3425[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1162~252800~-","IDUA"]
["IER3IP1","Microcephaly with simplified gyration, epilepsy & diabetes","Microcephaly, epilepsy and diabetes syndrome","Autosomal Recessive","Microcephaly, epilepsy and diabetes syndrome:Autosomal Recessive","Microcephaly, epilepsy and diabetes syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51124[geneid]~-~609382~-","IER3IP1"]
["IFITM5","Osteogenesis imperfecta, type V","Osteogenesis Imperfecta, Type V","Autosomal Dominant","Osteogenesis Imperfecta, Type V:Autosomal Dominant$Osteogenesis Imperfecta:Autosomal Dominant","Osteogenesis Imperfecta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=387733[geneid]~-~614757~-","IFITM5"]
["IFNAR1","Increased expression","Chronic type B viral hepatitis","Modifier",null,null,"HIGH","-~-~107450~-","IFNAR1"]
["IFNG","Increased transcription","Disorder of blood / lymphatics / immune system;Immune response, function","Modifier",null,null,"HIGH","-~-~147570~-","IFNG"]
["IFNGR1","Allergic disease","Allergy","Autosomal Dominant","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~107470~-","IFNGR1"]
["IFNGR1","BCG infection","BCG Infection, Generalized Familial","Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~107470~-","IFNGR1"]
["IFNGR1","IFNGR1 deficiency","BCG Infection, Generalized Familial;Mycobacterial disease, Mendelian susceptibility to","Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~107470~-","IFNGR1"]
["IFNGR1","Mycobacterial infection","Mycobacterial disease, Mendelian susceptibility to","Autosomal Dominant","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~107470~-","IFNGR1"]
["IFNGR1","Mycobacterial infection","Mycobacterial disease, Mendelian susceptibility to","Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~107470~-","IFNGR1"]
["IFNGR1","Mycobacterium avium osteomyelitis","Osteomyelitis","Autosomal Dominant","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~107470~-","IFNGR1"]
["IFNGR1","Reduced expression","Mycobacterial disease, Mendelian susceptibility to","Autosomal Dominant","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","BCG Infection, Generalized Familial:Autosomal Recessive$Mycobacterial disease, Mendelian susceptibility to:Autosomal Dominant$Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~107470~-","IFNGR1"]
["IFNGR2","Multiple cutaneous squamous cell carcinomas","Disseminated squamous cell carcinoma","Autosomal Recessive","Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~147569~-","IFNGR2"]
["IFNGR2","Mycobacterial infection","Mycobacterium Infection","Autosomal Recessive","Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","Mycobacterial disease, Mendelian susceptibility to:Autosomal Recessive","HIGH","-~-~147569~-","IFNGR2"]
["IFRD1","Sensorimotor neuropathy with ataxia","Neuropathy in association with hereditary ataxia","Autosomal Dominant",null,null,"HIGH","-~-~603502~-","IFRD1"]
["IFT122","Cranioectodermal dysplasia","Cranioectodermal dysplasia","Autosomal Recessive","Cranioectodermal dysplasia:Autosomal Recessive","Cranioectodermal dysplasia:Autosomal Recessive","HIGH","-~-~606045~-","IFT122"]
["IFT140","Jeune asphyxiating thoracic dystrophy","Jeune thoracic dystrophy","Autosomal Recessive","Mainzer-Saldino Disease:Autosomal Recessive","Mainzer-Saldino Disease:Autosomal Recessive","HIGH","-~-~614620~-","IFT140"]
["IFT140","Mainzer-Saldino syndrome","Mainzer-Saldino Disease","Autosomal Recessive","Mainzer-Saldino Disease:Autosomal Recessive","Mainzer-Saldino Disease:Autosomal Recessive","HIGH","-~-~614620~-","IFT140"]
["IFT140","Mainzer-Saldino syndrome / Jeune syndrome","Mainzer-Saldino Disease;Jeune thoracic dystrophy","Autosomal Recessive","Mainzer-Saldino Disease:Autosomal Recessive","Mainzer-Saldino Disease:Autosomal Recessive","HIGH","-~-~614620~-","IFT140"]
["IFT80","Asphyxiating thoracic dystrophy 2","Asphyxiating Thoracic Dystrophy 2","Autosomal Recessive","Asphyxiating Thoracic Dystrophy 2:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive","HIGH","-~-~611177~-","IFT80"]
["IFT80","Short rib-polydactyly syndrome, type 3","Short rib polydactyly syndrome","Autosomal Recessive","Asphyxiating Thoracic Dystrophy 2:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive","HIGH","-~-~611177~-","IFT80"]
["IGF1","Growth retardation","Growth retardation","Autosomal Recessive","Insulin-Like Growth Factor I Deficiency:Autosomal Recessive","Insulin-Like Growth Factor I Deficiency:Autosomal Recessive","HIGH","-~-~147440~-","IGF1"]
["IGF1","Insulin-like growth factor deficiency","Insulin-Like Growth Factor I Deficiency","Autosomal Recessive","Insulin-Like Growth Factor I Deficiency:Autosomal Recessive","Insulin-Like Growth Factor I Deficiency:Autosomal Recessive","HIGH","-~-~147440~-","IGF1"]
["IGF1","Short stature","Short stature disorder","Autosomal Dominant","Insulin-Like Growth Factor I Deficiency:Autosomal Recessive","Insulin-Like Growth Factor I Deficiency:Autosomal Recessive","HIGH","-~-~147440~-","IGF1"]
["IGF1R","Growth retardation","Growth retardation","Autosomal Recessive","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~14657428","IGF1R"]
["IGF1R","Growth retardation & microcephaly","Growth retardation, prenatal and postnatal;Microcephalos","Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~22738321","IGF1R"]
["IGF1R","Growth retardation, intrauterine & postnatal","Growth retardation, prenatal and postnatal","Autosomal Recessive","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~14657428","IGF1R"]
["IGF1R","Increased longevity","Longevity","Risk","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~-18316725","IGF1R"]
["IGF1R","Intrauterine growth retardation, dysmorphic features & insulin resistance","Fetal Growth Retardation;Dysmorphic features;Insulin Resistance","Autosomal Recessive","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~-","IGF1R"]
["IGF1R","Lipodystrophy","Lipodystrophy","Autosomal Recessive","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~-","IGF1R"]
["IGF1R","Short stature","Short stature disorder","Autosomal Recessive","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~14657428","IGF1R"]
["IGF1R","Short stature & intrauterine growth retardation","Short stature disorder;Fetal Growth Retardation","Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~22738321","IGF1R"]
["IGF1R","Single suture craniosynostosis","Craniosynostosis syndrome","Autosomal Recessive","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","Insulin-Like Growth Factor I, Resistance To:Autosomal Dominant","HIGH","-~-~147370~-21204214","IGF1R"]
["IGFALS","Acid-labile subunit deficiency","Delayed puberty;Microcephalus","Autosomal Recessive","Acid-labile subunit, deficiency of:Autosomal Recessive","Acid-labile subunit, deficiency of:Autosomal Recessive","HIGH","-~-~601489~-","IGFALS"]
["IGFALS","Acid-labile subunit deficiency, partial","Short stature disorder","Autosomal Recessive","Acid-labile subunit, deficiency of:Autosomal Recessive","Acid-labile subunit, deficiency of:Autosomal Recessive","HIGH","-~-~601489~-","IGFALS"]
["IGFALS","Short stature","Short stature disorder","Autosomal Recessive","Acid-labile subunit, deficiency of:Autosomal Recessive","Acid-labile subunit, deficiency of:Autosomal Recessive","HIGH","-~-~601489~-","IGFALS"]
["IGFBP7","Retinal arterial macroaneurysms","Retinal arterial macroaneurysm with supravalvular pulmonic stenosis","Autosomal Recessive","Retinal arterial macroaneurysm with supravalvular pulmonic stenosis:Autosomal Recessive","Retinal arterial macroaneurysm with supravalvular pulmonic stenosis:Autosomal Recessive","HIGH","-~-~602867~-","IGFBP7"]
["IGHMBP2","Infantile neuropathy with diaphragmatic weakness","Severe Infantile Axonal Neuropathy With Respiratory Failure","Autosomal Recessive","Spinal muscular atrophy with respiratory distress 1:Autosomal Recessive","Spinal muscular atrophy with respiratory distress 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3508[geneid]~-~600502~-","IGHMBP2"]
["IGHMBP2","Spinal muscular atrophy with respiratory distress 1","Spinal muscular atrophy with respiratory distress 1","Autosomal Recessive","Spinal muscular atrophy with respiratory distress 1:Autosomal Recessive","Spinal muscular atrophy with respiratory distress 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3508[geneid]~-~600502~-","IGHMBP2"]
["IGHMBP2","Spinal muscular atrophy, distal type 1","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1","Autosomal Recessive","Spinal muscular atrophy with respiratory distress 1:Autosomal Recessive","Spinal muscular atrophy with respiratory distress 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3508[geneid]~-~600502~-","IGHMBP2"]
["IGLL1","Agammaglobulinaemia, Autosomal Recessive","Agammaglobulinemia","Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive","HIGH","-~-~146770~-","IGLL1"]
["IGSF1","Central hypothyroidism","Central hypothyroidism","X-linked Recessive","Hypothyroidism, central, and testicular enlargement:X-linked Recessive","Hypothyroidism, central, and testicular enlargement:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3547[geneid]~-~300137~-","IGSF1"]
["IGSF1","Central hypothyroidism & testicular enlargement","Central hypothyroidism;Large testicle","X-linked Recessive","Hypothyroidism, central, and testicular enlargement:X-linked Recessive","Hypothyroidism, central, and testicular enlargement:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3547[geneid]~-~300137~-","IGSF1"]
["IHH","Acrocapitofemoral dysplasia","Acrocapitofemoral Dysplasia","Autosomal Recessive","Acrocapitofemoral Dysplasia:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly:Autosomal Dominant","Acrocapitofemoral Dysplasia:Autosomal Recessive$Brachydactyly:Autosomal Dominant","HIGH","-~-~600726~-","IHH"]
["IHH","Brachydactyly type A1","Brachydactyly type A1","Autosomal Dominant","Acrocapitofemoral Dysplasia:Autosomal Recessive$Brachydactyly type A1:Autosomal Dominant$Brachydactyly:Autosomal Dominant","Acrocapitofemoral Dysplasia:Autosomal Recessive$Brachydactyly:Autosomal Dominant","HIGH","-~-~600726~-","IHH"]
["IKBIP","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609861~-","IKBIP"]
["IKBKAP","Dysautonomia, familial","Familial dysautonomia","Autosomal Recessive","Familial dysautonomia:Autosomal Recessive","Familial dysautonomia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8518[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1180~603722~-","IKBKAP"]
["IKBKG","Ectodermal dysplasia","Ectodermal dysplasia","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IKBKG","Ectodermal dysplasia with immune deficiency","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IKBKG","Ectodermal dysplasia, hypohidrotic","Ectodermal dysplasia, hypohidrotic, with immune deficiency","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IKBKG","Immune deficiency","Primary immune deficiency disorder","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IKBKG","Incontinentia pigmenti","Incontinentia pigmenti syndrome","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IKBKG","Incontinentia pigmenti with immune deficiency","Incontinentia pigmenti syndrome;Primary immune deficiency disorder","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IKBKG","Incontinentia pigmenti, familial","Incontinentia pigmenti, familial male-lethal type","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IKBKG","Mycobacteriosis, atypical, familial","Atypical Mycobacteriosis, Familial","X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","Ectodermal dysplasia, hypohidrotic, with immune deficiency:X-linked Recessive$Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema:X-linked Recessive$Primary immune deficiency disorder:X-linked Recessive$Incontinentia pigmenti, familial male-lethal type:X-linked Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 2:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1472~300248~-","IKBKG"]
["IL10","Infant colitis","Colitis","Autosomal Recessive",null,null,"HIGH","-~-~124092~-","IL10"]
["IL10","Inflammatory bowel disease","Inflammatory bowel disease","Autosomal Recessive",null,null,"HIGH","-~-~124092~-","IL10"]
["IL10","Reduced IL10 secretion in Crohn's disease","Crohn's disease","Risk",null,null,"HIGH","-~-~124092~-","IL10"]
["IL10RA","Crohn's disease, neonatal onset","Crohn's disease","Autosomal Recessive","Inflammatory Bowel Disease 28, Autosomal Recessive:Autosomal Recessive$Inflammatory bowel disease:Autosomal Recessive","Inflammatory bowel disease:Autosomal Recessive","HIGH","-~-~146933~-","IL10RA"]
["IL10RA","Enterocolitis, early-onset","Inflammation of small intestine and colon","Autosomal Recessive","Inflammatory Bowel Disease 28, Autosomal Recessive:Autosomal Recessive$Inflammatory bowel disease:Autosomal Recessive","Inflammatory bowel disease:Autosomal Recessive","HIGH","-~-~146933~-","IL10RA"]
["IL10RA","Inflammatory bowel disease","Inflammatory Bowel Disease 28, Autosomal Recessive","Autosomal Recessive","Inflammatory Bowel Disease 28, Autosomal Recessive:Autosomal Recessive$Inflammatory bowel disease:Autosomal Recessive","Inflammatory bowel disease:Autosomal Recessive","HIGH","-~-~146933~-","IL10RA"]
["IL10RA","Ulcerative colitis","Ulcerative colitis","Autosomal Recessive","Inflammatory Bowel Disease 28, Autosomal Recessive:Autosomal Recessive$Inflammatory bowel disease:Autosomal Recessive","Inflammatory bowel disease:Autosomal Recessive","HIGH","-~-~146933~-","IL10RA"]
["IL10RB","Enterocolitis, early-onset","Inflammation of small intestine and colon","Autosomal Recessive","Inflammatory Bowel Disease 25, Autosomal Recessive:Autosomal Recessive$Inflammatory bowel disease:Autosomal Recessive","Inflammatory bowel disease:Autosomal Recessive","HIGH","-~-~123889~-","IL10RB"]
["IL10RB","Inflammatory bowel disease","Inflammatory Bowel Disease 25, Autosomal Recessive","Autosomal Recessive","Inflammatory Bowel Disease 25, Autosomal Recessive:Autosomal Recessive$Inflammatory bowel disease:Autosomal Recessive","Inflammatory bowel disease:Autosomal Recessive","HIGH","-~-~123889~-","IL10RB"]
["IL11RA","Craniosynostosis, delayed tooth eruption & supernumerary teeth","Craniosynostosis and dental anomalies","Autosomal Recessive","Craniosynostosis and dental anomalies:Autosomal Recessive","Craniosynostosis and dental anomalies:Autosomal Recessive","HIGH","-~-~600939~-","IL11RA"]
["IL12B","Interleukin 12 deficiency","BCG and Salmonella Infection, Disseminated","Autosomal Recessive","BCG and Salmonella Infection, Disseminated:Autosomal Recessive","BCG and Salmonella Infection, Disseminated:Autosomal Recessive","HIGH","-~-~161561~-","IL12B"]
["IL12RB1","IL12RB1 deficiency","Mycobacterium Infections;Salmonella infection","Autosomal Recessive","Mycobacterium Infections:Risk$Salmonella infection:Risk","Mycobacterium Infections:Risk$Salmonella infection:Risk","HIGH","-~-~601604~-","IL12RB1"]
["IL12RB1","Mycobacterial and Salmonella infection","Mycobacterium Infections;Salmonella infection","Autosomal Recessive","Mycobacterium Infections:Risk$Salmonella infection:Risk","Mycobacterium Infections:Risk$Salmonella infection:Risk","HIGH","-~-~601604~-","IL12RB1"]
["IL12RB1","Mycobacterial infection","Mycobacterium Infections","Autosomal Recessive","Mycobacterium Infections:Risk$Salmonella infection:Risk","Mycobacterium Infections:Risk$Salmonella infection:Risk","HIGH","-~-~601604~-","IL12RB1"]
["IL12RB1","Primary immunodeficiency disease","Primary immune deficiency disorder","Autosomal Recessive","Mycobacterium Infections:Risk$Salmonella infection:Risk","Mycobacterium Infections:Risk$Salmonella infection:Risk","HIGH","-~-~601604~-","IL12RB1"]
["IL12RB2","Atopy","Atopy","Autosomal Dominant","Atopy:Autosomal Dominant","Atopy:Autosomal Dominant","HIGH","-~-~601642~-","IL12RB2"]
["IL12RB2","Biliary cirrhosis, primary, 3","Primary biliary cirrhosis","Risk",null,null,"HIGH","-~-~601642~-","IL12RB2"]
["IL13","Enhanced HS4-dependent IL13 expression","Allergy","Autosomal Dominant","Allergy:Risk","Allergy:Risk","HIGH","-~-~147683~-","IL13"]
["IL17F","Mucocutaneous candidiasis","Familial chronic mucocutaneous candidiasis","Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant","HIGH","-~-~606496~-","IL17F"]
["IL17RA","Mucocutaneous candidiasis","Familial chronic mucocutaneous candidiasis","Autosomal Recessive","Familial chronic mucocutaneous candidiasis:Autosomal Recessive","Familial chronic mucocutaneous candidiasis:Autosomal Recessive","HIGH","-~-~605461~-","IL17RA"]
["IL17RD","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","-~-~606807~-","IL17RD"]
["IL17RD","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","-~-~606807~-","IL17RD"]
["IL18R1","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604494~-","IL18R1"]
["IL1F5","Psoriasis, generalised pustular","Generalized pustular psoriasis","Autosomal Recessive","Generalized pustular psoriasis:Autosomal Recessive","Generalized pustular psoriasis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26525[geneid]~-~605507~-","IL36RN"]
["IL1RAPL1","Asperger syndrome","Mental Retardation;Autistic Disorder","X-linked Dominant","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11141[geneid]~-~300206~-","IL1RAPL1"]
["IL1RAPL1","Mental retardation, X-linked","Mental Retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11141[geneid]~-~300206~-","IL1RAPL1"]
["IL1RN","Chronic multifocal osteomyelitis","Chronic multifocal osteomyelitis","Autosomal Dominant","Deficiency of interleukin-1 receptor antagonist:Autosomal Recessive","Deficiency of interleukin-1 receptor antagonist:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3557[geneid]~-~147679~-","IL1RN"]
["IL1RN","Interleukin 1 receptor antagonist deficiency","Deficiency of interleukin-1 receptor antagonist","Autosomal Recessive","Deficiency of interleukin-1 receptor antagonist:Autosomal Recessive","Deficiency of interleukin-1 receptor antagonist:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3557[geneid]~-~147679~-","IL1RN"]
["IL1RN","Keratoconus, familial","Keratoconus","Risk","Deficiency of interleukin-1 receptor antagonist:Autosomal Recessive","Deficiency of interleukin-1 receptor antagonist:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3557[geneid]~-~147679~-","IL1RN"]
["IL20RB","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605621~-","IL20RB"]
["IL21R","IL21R deficiency","Hyper-Immunoglobulin E Syndrome, Autosomal Dominant","Autosomal Dominant","Primary immune deficiency disorder:Autosomal Recessive$IgE increased:Autosomal Dominant","Primary immune deficiency disorder:Autosomal Recessive$IgE increased:Autosomal Dominant","HIGH","-~-~605383~-","IL21R"]
["IL21R","Primary immunodeficiency syndrome","Primary immune deficiency disorder","Autosomal Recessive","Primary immune deficiency disorder:Autosomal Recessive$IgE increased:Autosomal Dominant","Primary immune deficiency disorder:Autosomal Recessive$IgE increased:Autosomal Dominant","HIGH","-~-~605383~-","IL21R"]
["IL23R","Crohn's disease, protection against","Crohn's disease","Decreased Risk","Inflammatory Bowel Disease 17:Decreased Risk$Inflammatory Bowel Disease:Decreased Risk","Inflammatory Bowel Disease:Decreased Risk","HIGH","-~-~607562~-","IL23R"]
["IL2RA","CD25 deficiency","Interleukin 2 Receptor, Alpha, Deficiency of","Autosomal Recessive","Interleukin 2 Receptor, Alpha, Deficiency of:Autosomal Recessive","Interleukin 2 Receptor, Alpha, Deficiency of:Autosomal Recessive","HIGH","-~-~147730~-","IL2RA"]
["IL2RA","Immunodeficiency","Immunodeficiency disorder","Autosomal Recessive","Interleukin 2 Receptor, Alpha, Deficiency of:Autosomal Recessive","Interleukin 2 Receptor, Alpha, Deficiency of:Autosomal Recessive","HIGH","-~-~147730~-","IL2RA"]
["IL2RG","Immunodeficiency","Immunodeficiency disorder","X-linked Recessive","Immunodeficiency disorder:X-linked Recessive$X-linked severe combined immunodeficiency:X-linked Recessive$Severe combined immunodeficiency disease:X-linked Recessive","Severe combined immunodeficiency disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3561[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1410~308380~-","IL2RG"]
["IL2RG","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","X-linked Recessive","Immunodeficiency disorder:X-linked Recessive$X-linked severe combined immunodeficiency:X-linked Recessive$Severe combined immunodeficiency disease:X-linked Recessive","Severe combined immunodeficiency disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3561[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1410~308380~-","IL2RG"]
["IL2RG","Omenn syndrome","Histiocytic medullary reticulosis","X-linked Recessive","Immunodeficiency disorder:X-linked Recessive$X-linked severe combined immunodeficiency:X-linked Recessive$Severe combined immunodeficiency disease:X-linked Recessive","Severe combined immunodeficiency disease:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3561[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1410~308380~-","IL2RG"]
["IL31RA","Amyloidosis, primary cutaneous","Amyloidosis, primary localized cutaneous, 2","Autosomal Dominant","Amyloidosis, primary localized cutaneous, 2:Autosomal Dominant$Cutaneous amyloidosis:Autosomal Dominant","Cutaneous amyloidosis:Autosomal Dominant","HIGH","-~-~609510~-","IL31RA"]
["IL4R","Decreased expression of soluble isoform","Allergic asthma","Risk","Atopy:Risk","Atopy:Risk","HIGH","-~-~147781~-","IL4R"]
["IL7R","Immunodeficiency, severe combined","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive","Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3575[geneid]~-~146661~-","IL7R"]
["IL7R","Immunodeficiency, severe combined, atypical","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive","Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3575[geneid]~-~146661~-","IL7R"]
["IL8","Increased transcription","Respiratory syncytial virus infection","Risk",null,null,"HIGH","-~-~146930~-","IL8"]
["IL8RA","Acute pyelonephritis","Acute pyelonephritis","Autosomal Dominant","NULL","NULL","HIGH","-~-~146929~-","CXCR1"]
["ILDR1","Hearing impairment, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 42:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~609739~-","ILDR1"]
["ILDR1","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 42:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~609739~-","ILDR1"]
["ILDR1","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 42:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~609739~-","ILDR1"]
["ILK","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3611[geneid]~-~602366~-","ILK"]
["IMPAD1","Catel-Manzke-like syndrome","Catel Manzke syndrome, like","Autosomal Recessive","Chondrodysplasia:Autosomal Recessive","Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54928[geneid]~-~614010~-","IMPAD1"]
["IMPAD1","Chondrodysplasia & abnormal joint development","Chondrodysplasia with joint dislocations, Grapp type","Autosomal Recessive","Chondrodysplasia:Autosomal Recessive","Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54928[geneid]~-~614010~-","IMPAD1"]
["IMPDH1","Leber congenital amaurosis","Leber's amaurosis","Autosomal Dominant","Leber congenital amaurosis 11:Autosomal Dominant$Retinitis pigmentosa 10:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3614[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~146690~-","IMPDH1"]
["IMPDH1","Leber Congenital Amaurosis 11","Leber Congenital Amaurosis 11","Autosomal Dominant","Leber congenital amaurosis 11:Autosomal Dominant$Retinitis pigmentosa 10:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3614[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~146690~-","IMPDH1"]
["IMPDH1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Leber congenital amaurosis 11:Autosomal Dominant$Retinitis pigmentosa 10:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant$Leber's amaurosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3614[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~146690~-","IMPDH1"]
["IMPDH2","Autism spectrum disorder","Autistic Disorder","Risk","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~146691~-","IMPDH2"]
["IMPDH2","Decreased expression","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~146691~-","IMPDH2"]
["IMPG2","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Disorder of macula of retina:Autosomal Recessive$Retinitis pigmentosa 56:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Disorder of macula of retina:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~607056~-","IMPG2"]
["IMPG2","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa","Autosomal Recessive","Disorder of macula of retina:Autosomal Recessive$Retinitis pigmentosa 56:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Disorder of macula of retina:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~607056~-","IMPG2"]
["INF2","Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis","Charcot-Marie-Tooth disease;Focal segmental glomerulosclerosis","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant$Focal Segmental Glomerulosclerosis 5:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64423[geneid]~-~610982~-","INF2"]
["INF2","Focal segmental glomerulosclerosis","Focal segmental glomerulosclerosis","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant$Focal Segmental Glomerulosclerosis 5:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64423[geneid]~-~610982~-","INF2"]
["INHA","Adrenocortical tumour","Neoplasm of adrenal cortex","Autosomal Dominant",null,null,"HIGH","-~-~147380~-","INHA"]
["INHA","Premature ovarian failure","Premature ovarian failure","Risk",null,null,"HIGH","-~-~147380~-","INHA"]
["INMT","Decreased protein stability","NULL","No disease listed PMID 19702579","NULL","NULL","HIGH","-~-~604854~-","INMT"]
["INMT","Decreased protein stability","NULL","No particular disorder mentioned PMID 19702579","NULL","NULL","HIGH","-~-~604854~-","INMT"]
["INPP5E","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$MORM syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$MORM syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1325~613037~-","INPP5E"]
["INPP5E","MORM syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$MORM syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$MORM syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1325~613037~-","INPP5E"]
["INPP5K","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607875~-","INPP5K"]
["INPPL1","Opsismodysplasia","Opsismodysplasia","Autosomal Recessive","Opsismodysplasia:Autosomal Recessive","Opsismodysplasia:Autosomal Recessive","HIGH","-~-~600829~-","INPPL1"]
["INS","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 10:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 2:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=723961[geneid]~-~-~-","INS-IGF2"]
["INS","Diabetes, neonatal","Neonatal diabetes mellitus","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 10:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 2:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=723961[geneid]~-~-~-","INS-IGF2"]
["INS","Diabetes, permanent neonatal","Neonatal diabetes mellitus","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 10:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 2:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=723961[geneid]~-~-~-","INS-IGF2"]
["INS","Diabetes, type 1","Diabetes mellitus type 1","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 10:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 2:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=723961[geneid]~-~-~-","INS-IGF2"]
["INS","Diabetes, type 1B","Insulin dependent diabetes mellitus type 1B","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 10:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 2:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=723961[geneid]~-~-~-","INS-IGF3"]
["INS","Diabetes, type 2","Diabetes mellitus type 2","Risk","Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 10:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 2:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=723961[geneid]~-~-~-","INS-IGF2"]
["INS","Hyperproinsulinaemia","Hyperproinsulinemia","Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 10:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant$Diabetes Mellitus, Insulin-Dependent, 2:Autosomal Dominant","Maturity onset diabetes mellitus in young:Autosomal Dominant$Diabetes mellitus type 1:Autosomal Dominant$Neonatal diabetes mellitus:Autosomal Dominant$Hyperproinsulinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=723961[geneid]~-~-~-","INS-IGF2"]
["INSL3","Cryptorchidism","Undescended testicle","Autosomal Dominant","Cryptorchidism:Autosomal Dominant","Cryptorchidism:Autosomal Dominant","HIGH","-~-~146738~-","INSL3"]
["INSL6","Spermatogenic failure","Primary spermatogenic failure","Autosomal Dominant",null,null,"HIGH","-~-~606414~-","INSL6"]
["INSR","Diabetes, NIDDM","Diabetes mellitus type 2","Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Hyperinsulinemic Hypoglycemia, Familial, 5:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Rabson-Mendenhall syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3643[geneid]~-~147670~-","INSR"]
["INSR","Donohue syndrome","Leprechaunism syndrome","Autosomal Recessive","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Hyperinsulinemic Hypoglycemia, Familial, 5:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Rabson-Mendenhall syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3643[geneid]~-~147670~-","INSR"]
["INSR","Fibre-type disproportion myopathy, congenital","Congenital myopathy with fiber type disproportion","Autosomal Recessive","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Hyperinsulinemic Hypoglycemia, Familial, 5:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Rabson-Mendenhall syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3643[geneid]~-~147670~-","INSR"]
["INSR","Insulin resistance","Insulin-resistant diabetes mellitus AND acanthosis nigricans","Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Hyperinsulinemic Hypoglycemia, Familial, 5:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Rabson-Mendenhall syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3643[geneid]~-~147670~-","INSR"]
["INSR","Insulin resistance A","Insulin resistance - type A","Autosomal Recessive","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Hyperinsulinemic Hypoglycemia, Familial, 5:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Rabson-Mendenhall syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3643[geneid]~-~147670~-","INSR"]
["INSR","Leprechaunism","Leprechaunism syndrome","Autosomal Recessive","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Hyperinsulinemic Hypoglycemia, Familial, 5:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Rabson-Mendenhall syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3643[geneid]~-~147670~-","INSR"]
["INSR","Rabson-Mendenhall syndrome","Pineal hyperplasia AND diabetes mellitus syndrome","Autosomal Recessive","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Hyperinsulinemic Hypoglycemia, Familial, 5:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Rabson-Mendenhall syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Hereditary benign acanthosis nigricans with insulin resistance:Autosomal Dominant$Leprechaunism syndrome:Autosomal Recessive$Pineal hyperplasia AND diabetes mellitus syndrome:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3643[geneid]~-~147670~-","INSR"]
["INVS","Nephronophthisis & ciliary dysgenesis","Nephronophthisis;Immotile cilia syndrome","Autosomal Recessive","Nephronophthisis 2:Autosomal Recessive$Infantile nephronophthisis:Autosomal Recessive","Infantile nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27130[geneid]~-~243305~-","INVS"]
["INVS","Nephronophthisis 2","Infantile nephronophthisis","Autosomal Recessive","Nephronophthisis 2:Autosomal Recessive$Infantile nephronophthisis:Autosomal Recessive","Infantile nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27130[geneid]~-~243305~-","INVS"]
["INVS","Situs inversus with cardiac defects","Situs Inversus","Autosomal Recessive","Nephronophthisis 2:Autosomal Recessive$Infantile nephronophthisis:Autosomal Recessive","Infantile nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27130[geneid]~-~243305~-","INVS"]
["IQCB1","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Senior-Loken Syndrome 5:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1298~609237~-","IQCB1"]
["IQCB1","Retinitis pigmentosa, modifier of","Retinitis pigmentosa","Modifier","Senior-Loken Syndrome 5:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1298~609237~-","IQCB1"]
["IQCB1","Senior-Loken syndrome","Senior-Loken Syndrome 5","Autosomal Recessive","Senior-Loken Syndrome 5:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1298~609237~-","IQCB1"]
["IQCB1","Senior-Loken syndrome 5","Senior-Loken Syndrome 5","Autosomal Recessive","Senior-Loken Syndrome 5:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1298~609237~-","IQCB1"]
["IQCE","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23288[geneid]~-~-~-","IQCE"]
["IQGAP3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128239[geneid]~-~-~-","IQGAP3"]
["IQSEC2","Intellectual disability, nonsyndromic","Intellectual Disability","X-linked Recessive","Mental Retardation, X-Linked 1:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23096[geneid]~-~300522~-","IQSEC2"]
["IRAK3","Asthma, predisposition to","Asthma","Risk","Asthma:Risk","Asthma:Risk","HIGH","-~-~604459~-","IRAK3"]
["IRAK4","IRAK4 deficiency","IRAK4 Deficiency;Invasive Pneumococcal Disease, Recurrent Isolated, 1","Autosomal Recessive","IRAK4 Deficiency:Autosomal Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 1:Autosomal Recessive","IRAK4 Deficiency:Autosomal Recessive$Invasive Pneumococcal Disease, Recurrent Isolated, 1:Autosomal Recessive","HIGH","-~-~606883~-","IRAK4"]
["IRF6","Cleft lip/palate","Orofacial cleft","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF6","Oral clefts, non-syndromic","Orofacial cleft","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF6","Popliteal pterygium syndrome","Popliteal pterygium syndrome","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF6","Van der Woude syndrome","Van der Woude syndrome","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF6","Van der Woude syndrome / popliteal pterygium syndrome","Van der Woude syndrome;Popliteal pterygium syndrome","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF6","Van der Woude syndrome with bilateral conical elevations","Van der Woude syndrome","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF6","VWS-PPS spectrum disorder with renal aplasia","Popliteal pterygium syndrome","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF6","VWS-PPS spectrum disorder with renal aplasia","Van der Woude syndrome","Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","Orofacial cleft:Autosomal Dominant$Popliteal pterygium syndrome:Autosomal Dominant$Van der Woude syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1407~607199~-","IRF6"]
["IRF8","Immunodeficiency, Autosomal Dominant","Immunodeficiency disorder","Autosomal Dominant","Immunodeficiency disorder:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive$CD11C+/CD1C+ dendritic cell deficiency, dominant:Autosomal Dominant$Monocyte and dendritic cell deficiency, recessive:Autosomal Recessive","Immunodeficiency disorder:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","HIGH","-~-~601565~-","IRF8"]
["IRF8","Immunodeficiency, Autosomal Recessive","Immunodeficiency disorder","Autosomal Recessive","Immunodeficiency disorder:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive$CD11C+/CD1C+ dendritic cell deficiency, dominant:Autosomal Dominant$Monocyte and dendritic cell deficiency, recessive:Autosomal Recessive","Immunodeficiency disorder:Autosomal Dominant$Immunodeficiency disorder:Autosomal Recessive","HIGH","-~-~601565~-","IRF8"]
["IRS1","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~147545~-","IRS1"]
["IRS1","Diabetes, NIDDM","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~147545~-","IRS1"]
["IRS1","Insulin resistance","Insulin resistance in diabetes","Autosomal Dominant","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~147545~-","IRS1"]
["IRS2","Diabetes, type 2","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~600797~-","IRS2"]
["IRS2","Insulin resistance, severe","Insulin resistance in diabetes","Autosomal Dominant","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~600797~-","IRS2"]
["IRS4","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~603510~-","IRS4"]
["IRX4","Congenital heart disease","Ventricular septal defect","Risk","Ventricular septal defect:Risk","Ventricular septal defect:Risk","HIGH","-~-~606199~-","IRX4"]
["IRX5","Defective craniofacial morphogenesis & heart, blood, bone & germ cell ontogeny","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility","Autosomal Recessive","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility:Autosomal Recessive","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility:Autosomal Recessive","HIGH","-~-~606195~-","IRX5"]
["ISCU","Myopathy with defiency of succinate dehydrogenase & acotinase","Myopathy with Lactic Acidosis, Hereditary","Autosomal Recessive","Myopathy with Lactic Acidosis, Hereditary:Autosomal Recessive","Myopathy with Lactic Acidosis, Hereditary:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23479[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5299~611911~-","ISCU"]
["ISCU","Myopathy with exercise intolerance","Myopathy with Lactic Acidosis, Hereditary","Autosomal Recessive","Myopathy with Lactic Acidosis, Hereditary:Autosomal Recessive","Myopathy with Lactic Acidosis, Hereditary:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23479[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5299~611911~-","ISCU"]
["ISG15","Mycobacterial disease, mendelian susceptibility to","Mycobacteriosis","Risk",null,null,"HIGH","-~-~147571~-","ISG15"]
["ISL1","Diabetes, type 2","Diabetes mellitus type 2","Autosomal Dominant",null,null,"HIGH","-~-~600366~-","ISL1"]
["ISPD","Cobblestone lissencephaly","Type 2 lissencephaly","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ISPD","Muscle-eye-brain disease","Muscle eye brain disease","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ISPD","Muscular dystrophy, congenital","Congenital muscular dystrophy","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ISPD","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ISPD","Muscular dystrophy, limb girdle with cerebellar involvement","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ISPD","Muscular dystrophy, limb girdle with mental retardation","Limb-girdle muscular dystrophy;Mental retardation","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ISPD","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ISPD","Walker-Warburg syndrome / muscle-eye-brain disease","Walker-Warburg congenital muscular dystrophy;Muscle eye brain disease","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=729920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~614631~-","ISPD"]
["ITCH","Syndromic multisystem autoimmune disease","Autoimmune disease, syndromic multisystem","Autosomal Recessive","Autoimmune disease, syndromic multisystem:Autosomal Recessive","Autoimmune disease, syndromic multisystem:Autosomal Recessive","HIGH","-~-~606409~-","ITCH"]
["ITGA2","Fetal/neonatal alloimmune thrombocytopenia","Neonatal alloimmune thrombocytopenia","Autosomal Recessive","Glycoprotein IA Deficiency:Autosomal Recessive","Glycoprotein IA Deficiency:Autosomal Recessive","HIGH","-~-~192974~-","ITGA2"]
["ITGA2","Reduced collagen-induced aggregation","Neonatal alloimmune thrombocytopenia","Autosomal Recessive","Glycoprotein IA Deficiency:Autosomal Recessive","Glycoprotein IA Deficiency:Autosomal Recessive","HIGH","-~-~192974~-","ITGA2"]
["ITGA2","Reduced transcription","NULL","No disease association listed PMID 11313353","NULL","NULL","HIGH","-~-~192974~-","ITGA2"]
["ITGA2B","Alloimmune thrombocytopenia, neonatal","Neonatal alloimmune thrombocytopenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann's thrombasthenia:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann's thrombasthenia:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3674[geneid]~-~607759~-","ITGA2B"]
["ITGA2B","Glanzmann thrombasthenia","Glanzmann's thrombasthenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann's thrombasthenia:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann's thrombasthenia:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3674[geneid]~-~607759~-","ITGA2B"]
["ITGA2B","Macrothrombocytopaenia","Epstein syndrome","Autosomal Dominant","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann's thrombasthenia:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann's thrombasthenia:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3674[geneid]~-~607759~-","ITGA2B"]
["ITGA3","Nephrotic syndrome and interstitial lung disease","Interstitial lung disease;Nephrotic syndrome","Autosomal Recessive","Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital:Autosomal Recessive","Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital:Autosomal Recessive","HIGH","-~-~605025~-","ITGA3"]
["ITGA3","Nephrotic syndrome, interstitial lung disease & skin fragility","Interstitial lung disease;Nephrotic syndrome;Epidermolysis bullosa","Autosomal Recessive","Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital:Autosomal Recessive","Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital:Autosomal Recessive","HIGH","-~-~605025~-","ITGA3"]
["ITGA5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~135620~-","ITGA5"]
["ITGA6","Epidermolysis bullosa with pyloric atresia","Congenital junctional epidermolysis bullosa-pyloric atresia syndrome","Autosomal Recessive","Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147556~-","ITGA6"]
["ITGA6","Epidermolysis bullosa, junctional","Junctional epidermolysis bullosa","Autosomal Recessive","Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147556~-","ITGA6"]
["ITGA7","Congenital fibre type disproportion","Congenital myopathy with fiber type disproportion","Autosomal Recessive","Muscular dystrophy, congenital, due to ITGA7 deficiency","Myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3679[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~600536~-","ITGA7"]
["ITGA7","Myopathy, congenital","Congenital muscular dystrophy","Autosomal Recessive","Congenital muscular dystrophy:Autosomal Recessive","Congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3679[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~600536~-","ITGA7"]
["ITGA9","Severe chylothorax, poor response to therapy","Congenital chylothorax;Drug Response","Autosomal Recessive","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~603963~-","ITGA9"]
["ITGB2","Leukocyte adhesion deficiency","Congenital leukocyte adherence deficiency","Autosomal Recessive","Congenital leukocyte adherence deficiency:Autosomal Recessive$Leukocyte Adhesion Deficiency:Autosomal Recessive","Leukocyte Adhesion Deficiency:Autosomal Recessive","HIGH","-~-~600065~-","ITGB2"]
["ITGB3","Alloimmune thrombocytopenia, neonatal","Neonatal alloimmune thrombocytopenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Glanzmann thrombasthenia","Glanzmann's thrombasthenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Glanzmann thrombasthenia 1","Glanzmann's thrombasthenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Glanzmann thrombasthenia 2","Glanzmann's thrombasthenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Macrothrombocytopaenia","Epstein syndrome","Autosomal Dominant","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Platelet disorder","Platelet disorder","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Platelet-specific alloantigen Va ","5a alloantigen, human","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Thromboasthenia-like phenotype","Thromboasthenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB3","Thrombocytopaenia","Refractory thrombocytopenia","Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","Glanzmann's thrombasthenia:Autosomal Dominant$Glanzmann thrombasthenia:Autosomal Recessive$Posttransfusion purpura:Autosomal Recessive$Neonatal alloimmune thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3690[geneid]~-~173470~-","ITGB3"]
["ITGB4","Desquamative enteropathy with pyloric atresia","Enteropathy;Pyloric atresia","Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Epidermolysis bullosa simplex of the hands and feet:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147557~-","ITGB4"]
["ITGB4","Epidermolysis bullosa","Epidermolysis bullosa","Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Epidermolysis bullosa simplex of the hands and feet:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147557~-","ITGB4"]
["ITGB4","Epidermolysis bullosa simplex","Epidermolysis bullosa simplex","Autosomal Dominant","Weber-Cockayne Syndrome:Autosomal Dominant$Epidermolysis bullosa simplex of the hands and feet:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147557~-","ITGB4"]
["ITGB4","Epidermolysis bullosa with pyloric atresia","Congenital junctional epidermolysis bullosa-pyloric atresia syndrome","Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Epidermolysis bullosa simplex of the hands and feet:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147557~-","ITGB4"]
["ITGB4","Epidermolysis bullosa, junctional","Junctional epidermolysis bullosa","Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Epidermolysis bullosa simplex of the hands and feet:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147557~-","ITGB4"]
["ITGB4","Epidermolysis bullosa, without pyloric atresia","Epidermolysis bullosa","Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Epidermolysis bullosa simplex of the hands and feet:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","Weber-Cockayne Syndrome:Autosomal Dominant$Adult junctional epidermolysis bullosa:Autosomal Recessive$Congenital junctional epidermolysis bullosa-pyloric atresia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1157~147557~-","ITGB4"]
["ITIH1","ITIH1 null allele","NULL","No disease listed PMID 9290263","NULL","NULL","HIGH","-~-~147270~-","ITIH1"]
["ITIH1","ITIH1 null allele","NULL","No particular disorder mentioned PMID 9290263","NULL","NULL","HIGH","-~-~147270~-","ITIH1"]
["ITIH6","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ITIH6"]
["ITK","Autism spectrum disorder","Autistic Disorder","Risk","Lymphoproliferative syndrome:Autosomal Recessive","Lymphoproliferative syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3702[geneid]~-~186973~-","ITK"]
["ITK","IL2-inducible T-cell kinase deficiency","Lymphoproliferative syndrome","Autosomal Recessive","Lymphoproliferative syndrome:Autosomal Recessive","Lymphoproliferative syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3702[geneid]~-~186973~-","ITK"]
["ITK","Lymphoproliferative syndrome","Lymphoproliferative syndrome","Autosomal Recessive","Lymphoproliferative syndrome:Autosomal Recessive","Lymphoproliferative syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3702[geneid]~-~186973~-","ITK"]
["ITM2B","Familial British dementia","Dementia, familial British","Autosomal Dominant","Dementia, familial British:Autosomal Dominant$Dementia, familial Danish:Autosomal Dominant","Dementia, familial British:Autosomal Dominant$Dementia, familial Danish:Autosomal Dominant","HIGH","-~-~603904~-","ITM2B"]
["ITM2B","Familial Danish dementia","Dementia, familial Danish","Autosomal Dominant","Dementia, familial British:Autosomal Dominant$Dementia, familial Danish:Autosomal Dominant","Dementia, familial British:Autosomal Dominant$Dementia, familial Danish:Autosomal Dominant","HIGH","-~-~603904~-","ITM2B"]
["ITPA","ITPase deficiency","Inosine triphosphate pyrophosphohydrolase deficiency","Autosomal Recessive","Inosine triphosphate pyrophosphohydrolase deficiency:Autosomal Recessive","Inosine triphosphate pyrophosphohydrolase deficiency:Autosomal Recessive","HIGH","-~-~147520~-","ITPA"]
["ITPR1","Spinocerebellar ataxia 15","Spinocerebellar Ataxia 15","Autosomal Dominant","Spinocerebellar Ataxia 15:Autosomal Dominant$Spinocerebellar Ataxia 29:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3708[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1362~147265~-","ITPR1"]
["ITPR1","Spinocerebellar ataxia, congenital nonprogressive","Spinocerebellar Ataxia 29","Autosomal Dominant","Spinocerebellar Ataxia 15:Autosomal Dominant$Spinocerebellar Ataxia 29:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3708[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1362~147265~-","ITPR1"]
["ITSN2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604464~-","ITSN2"]
["IVD","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Isovaleryl-CoA dehydrogenase deficiency:Autosomal Recessive","Isovaleryl-CoA dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3712[geneid]~-~607036~-","IVD"]
["IVD","Isovaleric acidaemia","Isovaleryl-CoA dehydrogenase deficiency","Autosomal Recessive","Isovaleryl-CoA dehydrogenase deficiency:Autosomal Recessive","Isovaleryl-CoA dehydrogenase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3712[geneid]~-~607036~-","IVD"]
["IYD","Hypothyroidism","Iodotyrosine deiodination defect","Autosomal Recessive","Thyroid Dyshormonogenesis 4:Autosomal Recessive$Iodotyrosine deiodination defect:Autosomal Recessive","Thyroid Dyshormonogenesis 4:Autosomal Recessive$Iodotyrosine deiodination defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=389434[geneid]~-~612025~-","IYD"]
["JAG1","Alagille syndrome","Arteriohepatic dysplasia","Autosomal Dominant","Alagille syndrome:Autosomal Dominant$Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=182[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~601920~-","JAG1"]
["JAG1","Alagille syndrome with Moyamoya syndrome","Arteriohepatic dysplasia;Moyamoya disease","Autosomal Dominant","Alagille syndrome:Autosomal Dominant$Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=182[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~601920~-","JAG1"]
["JAG1","Biliary atresia, extrahepatic","Congenital atresia of extrahepatic bile duct","Autosomal Dominant","Alagille syndrome:Autosomal Dominant$Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=182[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~601920~-","JAG1"]
["JAG1","Cholestasis, intrahepatic","Intrahepatic cholestasis","Autosomal Dominant","Alagille syndrome:Autosomal Dominant$Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=182[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~601920~-","JAG1"]
["JAG1","Hearing loss, heart defects and posterior embryotoxon","Hearing loss;Congenital heart disease;Posterior embryotoxon","Autosomal Dominant","Alagille syndrome:Autosomal Dominant$Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=182[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~601920~-","JAG1"]
["JAG1","Pulmonic stenosis","Pulmonic Stenoses","Autosomal Dominant","Alagille syndrome:Autosomal Dominant$Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=182[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~601920~-","JAG1"]
["JAG1","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant","Alagille syndrome:Autosomal Dominant$Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Arteriohepatic dysplasia:Autosomal Dominant$Deafness, Congenital Heart Defects, and Posterior Embryotoxon:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=182[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~601920~-","JAG1"]
["JAG2","Cleft lip","Cleft lip;Cleft palate with cleft lip","Risk",null,null,"HIGH","-~-~602570~-","JAG2"]
["JAK2","Polycythaemia","Polycythemia vera","Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Myelofibrosis:Autosomal Dominant$Polycythemia vera:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Thrombocythemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Myelofibrosis:Autosomal Dominant$Polycythemia vera:Autosomal Dominant$Thrombocytosis:Autosomal Dominant","HIGH","-~-~147796~-","JAK2"]
["JAK2","Thrombocytosis","Thrombocytosis","Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Myelofibrosis:Autosomal Dominant$Polycythemia vera:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Thrombocythemia:Autosomal Dominant","Erythrocytosis:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Myelofibrosis:Autosomal Dominant$Polycythemia vera:Autosomal Dominant$Thrombocytosis:Autosomal Dominant","HIGH","-~-~147796~-","JAK2"]
["JAK3","Immunodeficiency","Immunodeficiency","Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative:Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3718[geneid]~-~600173~-","JAK3"]
["JAK3","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative:Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3718[geneid]~-~600173~-","JAK3"]
["JAM3","Haemorrhagic destruction of the brain and cataracts","Hemorrhagic destruction of the brain, subependymal calcification and cataracts","Autosomal Recessive","Hemorrhagic destruction of the brain, subependymal calcification and cataracts:Autosomal Recessive","Hemorrhagic destruction of the brain, subependymal calcification and cataracts:Autosomal Recessive","HIGH","-~-~606871~-","JAM3"]
["JMJD1C","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604503~-","JMJD1C"]
["JPH2","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57158[geneid]~-~605267~-","JPH2"]
["JUP","Arrhythmogenic right ventricular dysplasia/cardiomyopathy","Arrhythmogenic right ventricular dysplasia;Cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:Autosomal Dominant$Naxos disease:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Naxos disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~173325~-","JUP"]
["JUP","Cardiomyopathy with alopecia & palmoplantar keratoderma","Cardiomyopathy;Alopecia;Keratoderma, Palmoplantar","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:Autosomal Dominant$Naxos disease:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Naxos disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~173325~-","JUP"]
["JUP","Cardiomyopathy, arrhythmogenic right ventricular","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:Autosomal Dominant$Naxos disease:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Naxos disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~173325~-","JUP"]
["JUP","Cutaneous disease","Hereditary diffuse palmoplantar keratoderma;Wooly hair","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:Autosomal Dominant$Naxos disease:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Naxos disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~173325~-","JUP"]
["JUP","Epidermolysis bullosa, lethal congenital","Epidermolysis bullosa","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:Autosomal Dominant$Naxos disease:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Naxos disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~173325~-","JUP"]
["JUP","Naxos disease","Naxos disease","Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:Autosomal Dominant$Naxos disease:Autosomal Recessive","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Naxos disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~173325~-","JUP"]
["KAL1","GnRH deficiency","Gonadoropin releasing factor deficiency","X-linked Dominant","Kallmann Syndrome 1:X-linked dominant$Hypogonadism with anosmia:X-linked dominant","Hypogonadism with anosmia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3730[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~300836~-","KAL1"]
["KAL1","Hypogonadotrophic hypogonadism, idiopathic","Hypogonadotropic hypogonadism","X-linked Recessive","Kallmann Syndrome 1:X-linked dominant$Hypogonadism with anosmia:X-linked dominant","Hypogonadism with anosmia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3730[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~300836~-","KAL1"]
["KAL1","Hypogonadotropic hypogonadism, idiopathic","Hypogonadotropic hypogonadism","X-linked Recessive","Kallmann Syndrome 1:X-linked dominant$Hypogonadism with anosmia:X-linked dominant","Hypogonadism with anosmia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3730[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~300836~-","KAL1"]
["KAL1","Hypothalamic amenorrhea","Hypothalamic amenorrhea","X-linked Dominant","Kallmann Syndrome 1:X-linked dominant$Hypogonadism with anosmia:X-linked dominant","Hypogonadism with anosmia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3730[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~300836~-","KAL1"]
["KAL1","Kallmann syndrome","Hypogonadism with anosmia","X-linked Dominant","Kallmann Syndrome 1:X-linked dominant$Hypogonadism with anosmia:X-linked dominant","Hypogonadism with anosmia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3730[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~300836~-","KAL1"]
["KAL1","Kallmann syndrome, reversible","Hypogonadism with anosmia","X-linked Dominant","Kallmann Syndrome 1:X-linked dominant$Hypogonadism with anosmia:X-linked dominant","Hypogonadism with anosmia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3730[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~300836~-","KAL1"]
["KANK1","Autism","Autistic Disorder","Risk","Cerebral Palsy, Spastic Quadriplegic, 2:Autosomal Dominant$Quadriplegic spastic cerebral palsy:Autosomal Dominant","Quadriplegic spastic cerebral palsy:Autosomal Dominant","HIGH","-~-~607704~-","KANK1"]
["KANSL1","17q21.31 microdeletion syndrome","Chromosome 17q21.31 Deletion Syndrome","Autosomal Dominant","Chromosome 17q21.31 Deletion Syndrome:Autosomal Dominant","Chromosome 17q21.31 Deletion Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK24676~612452~-","KANSL1"]
["KARS","Deafness","Deafness","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3735[geneid]~-~601421~-","KARS"]
["KARS","Development delay, hypotonia & ophthalmoplegia","Developmental delay;Muscle hypotonia;Ophthalmoplegia","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3735[geneid]~-~601421~-","KARS"]
["KARS","Hearing impairment, nonsyndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3735[geneid]~-~601421~-","KARS"]
["KARS","Peripheral neuropathy","Peripheral nerve disease;Charcot-Marie-Tooth disease, recessive intermediate B","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3735[geneid]~-~601421~-","KARS"]
["KAT6B","Genitopatellar syndrome","Genitopatellar Syndrome","Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23522[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114806~605880~-","KAT6B"]
["KAT6B","Ohdo blepharophimosis syndrome","Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth","Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23522[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114806~605880~-","KAT6B"]
["KAT6B","Ohdo blepharophimosis syndrome, SBBYS type","Young Simpson syndrome","Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23522[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114806~605880~-","KAT6B"]
["KATNAL2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~614697~-","KATNAL2"]
["KCNA1","Epilepsy partial and myokymia","Episodic ataxia type 1","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA1","Episodic ataxia","Episodic ataxia","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA1","Episodic ataxia / myokymia","Episodic ataxia type 1","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA1","Episodic ataxia 1","Episodic ataxia type 1","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA1","Episodic ataxia with cerebellar dysfunction & cognitive delay","Cerebellar disorder","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA1","Episodic ataxia with cerebellar dysfunction & cognitive delay","Episodic ataxia type 1","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA1","Hypomagnesemia","Hypomagnesemia","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA1","Myokymia","Myokymia","Autosomal Dominant","Episodic ataxia type 1:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25442~176260~-","KCNA1"]
["KCNA5","Altered channel function","NULL","No disease association PMID 16411137","NULL","NULL","HIGH","-~-~176267~-","KCNA5"]
["KCNA5","Atrial fibrillation","Atrial Fibrillation, Familial, 7","Autosomal Dominant","Atrial Fibrillation, Familial, 7:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant","HIGH","-~-~176267~-","KCNA5"]
["KCNA5","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Atrial Fibrillation, Familial, 7:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant","HIGH","-~-~176267~-","KCNA5"]
["KCNA5","Pulmonary arterial hypertension","Primary pulmonary hypertension","Autosomal Dominant","Atrial Fibrillation, Familial, 7:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant","HIGH","-~-~176267~-","KCNA5"]
["KCNC3","Spinocerebellar ataxia 13","Spinocerebellar ataxia 13","Autosomal Dominant","Spinocerebellar ataxia 13:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3748[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1225~176264~-","KCNC3"]
["KCNC3","Total loss of function","Spinocerebellar ataxia 13","Autosomal Dominant","Spinocerebellar ataxia 13:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3748[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1225~176264~-","KCNC3"]
["KCND2","Epilepsy, temporal lobe","Temporal lobe epilepsy","Autosomal Dominant",null,null,"HIGH","-~-~605410~-","KCND2"]
["KCND3","Atrial fibrillation, lone, early-onset","Lone atrial fibrillation","Autosomal Dominant","Spinocerebellar ataxia 19:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCND3","Brugada syndrome","Brugada syndrome","Autosomal Dominant","Spinocerebellar ataxia 19:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCND3","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Spinocerebellar ataxia 19:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCND3","Spinocerebellar ataxia 19","Spinocerebellar ataxia 19","Autosomal Dominant","Spinocerebellar ataxia 19:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCND3","Spinocerebellar ataxia 22","Spinocerebellar ataxia 22","Autosomal Dominant","Spinocerebellar ataxia 19:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCND3","Sudden infant death syndrome","NULL","Association negated PMID 22457051","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCND3","Sudden infant death syndrome","NULL","Negated by PMID 22457051","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCND3","Sudden unexplained death syndrome","Unexplained sudden death","Risk","Spinocerebellar ataxia 19:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]~-~605411~-","KCND3"]
["KCNE1","Atrial fibrillation, early-onset","Atrial fibrillation","Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Jervell And Lange-Nielsen Syndrome 2:Autosomal Recessive$Long QT Syndrome 5:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3753[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~176261~-","KCNE1"]
["KCNE1","Jervell and Lange-Nielsen syndrome","Jervell And Lange-Nielsen Syndrome 2","Autosomal Recessive","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Jervell And Lange-Nielsen Syndrome 2:Autosomal Recessive$Long QT Syndrome 5:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3753[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~176261~-","KCNE1"]
["KCNE1","Long QT syndrome","Long QT Syndrome 5","Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Jervell And Lange-Nielsen Syndrome 2:Autosomal Recessive$Long QT Syndrome 5:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3753[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~176261~-","KCNE1"]
["KCNE1","Long QT syndrome, drug-induced","Acquired long QT syndrome","Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Jervell And Lange-Nielsen Syndrome 2:Autosomal Recessive$Long QT Syndrome 5:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3753[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~176261~-","KCNE1"]
["KCNE1","Sudden unexplained nocturnal death syndrome","Sudden Unexplained Nocturnal Death Syndrome","Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Jervell And Lange-Nielsen Syndrome 2:Autosomal Recessive$Long QT Syndrome 5:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3753[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~176261~-","KCNE1"]
["KCNE1","Tinnitus","NULL","Disease not mentioned in OMIM, no PMID listed in HGMD","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3753[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~176261~-","KCNE1"]
["KCNE1L","Atrial fibrillation","Atrial fibrillation","X-linked Dominant","Atrial fibrillation:X-linked Dominant","Atrial fibrillation:X-linked Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23630[geneid]~-~300328~-","KCNE1L"]
["KCNE1L","Idiopathic ventricular fibrillation","Paroxysmal familial ventricular fibrillation","X-linked Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23630[geneid]~-~300328~-","KCNE1L"]
["KCNE2","Cardiac arrhythmia","Conduction disorder of the heart;Atrial Fibrillation, Familial, 4","Autosomal Dominant","Atrial Fibrillation, Familial, 4:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Long QT Syndrome 6:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9992[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~603796~-","KCNE2"]
["KCNE2","Long QT syndrome","Long QT Syndrome 6","Autosomal Dominant","Atrial Fibrillation, Familial, 4:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Long QT Syndrome 6:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9992[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~603796~-","KCNE2"]
["KCNE2","Sudden unexplained nocturnal death syndrome","Sudden Unexplained Nocturnal Death Syndrome","Risk","Atrial Fibrillation, Familial, 4:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Long QT Syndrome 6:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9992[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~603796~-","KCNE2"]
["KCNE3","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Brugada Syndrome 6:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~604433~-","KCNE3"]
["KCNE3","Atrial fibrillation, familial","Atrial fibrillation","Autosomal Dominant","Brugada Syndrome 6:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~604433~-","KCNE3"]
["KCNE3","Brugada syndrome","Brugada Syndrome 6","Autosomal Dominant","Brugada Syndrome 6:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~604433~-","KCNE3"]
["KCNE3","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Brugada Syndrome 6:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~604433~-","KCNE3"]
["KCNE3","Periodic paralysis","NULL","Negated by PMID 14504341,15037716","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10008[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~604433~-","KCNE3"]
["KCNE4","Periodic paralysis","Hypokalemic periodic paralysis","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23704[geneid]~-~607775~-","KCNE4"]
["KCNH2","Altered channel function","Atrial fibrillation","Risk","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Brugada syndrome, phenotype modifier","Brugada syndrome","Modifier","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Long QT syndrome & atrial fibrillation","Long QT syndrome;Atrial fibrillation","Autosomal Dominant","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Long QT syndrome 2","Long QT Syndrome 2","Autosomal Dominant","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Long QT syndrome, epilepsy & sudden death","Long QT syndrome;Epilepsy;Sudden death","Autosomal Dominant","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Long QT syndrome, latent","Long QT syndrome","Autosomal Dominant","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Miscarriage and intrauterine foetal loss","Spontaneous abortion","Autosomal Recessive","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Short QT syndrome","Short QT Syndrome 1","Autosomal Dominant","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Sudden arrhythmic death syndrome","Sudden arrhythmic death syndrome","Risk","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Sudden infant death syndrome","Sudden infant death syndrome","Risk","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH2","Tetralogy of Fallot","Tetralogy of Fallot","Modifier","Long QT Syndrome 2:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","Long QT syndrome:Autosomal Dominant$Short QT Syndrome 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3757[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~152427~-","KCNH2"]
["KCNH6","Hyperinsulism","Hyperinsulinism","Risk",null,null,"HIGH","-~-~608168~-","KCNH6"]
["KCNJ1","Bartter syndrome","Bartter syndrome, antenatal , type 2","Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3758[geneid]~-~600359~-","KCNJ1"]
["KCNJ1","Bartter syndrome, antenatal","Bartter syndrome, antenatal , type 2","Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3758[geneid]~-~600359~-","KCNJ1"]
["KCNJ1","Bartter syndrome, type II","Bartter syndrome, antenatal , type 2","Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3758[geneid]~-~600359~-","KCNJ1"]
["KCNJ1","Reduced blood pressure","Low blood pressure","Autosomal Dominant","Bartter syndrome, antenatal , type 2:Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3758[geneid]~-~600359~-","KCNJ1"]
["KCNJ1","Salt-losing tubulopathy","Bartter syndrome, antenatal , type 2","Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","Bartter syndrome, antenatal , type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3758[geneid]~-~600359~-","KCNJ1"]
["KCNJ10","Autism, seizures & intellectual disability","Autistic Disorder;Seizure;Intellectual Disability","Autosomal Dominant","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3766[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~602208~-","KCNJ10"]
["KCNJ10","Epilepsy, ataxia, sensorineural deafness and tubulopathy","SeSAME syndrome","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3766[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~602208~-","KCNJ10"]
["KCNJ10","Hearing loss, digenic non-syndromic","Hearing loss","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3766[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~602208~-","KCNJ10"]
["KCNJ10","Hyperinsulinism","Hyperinsulinism","Risk","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3766[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~602208~-","KCNJ10"]
["KCNJ10","SeSAME syndrome","SeSAME syndrome","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$SeSAME syndrome:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3766[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~602208~-","KCNJ10"]
["KCNJ11","DEND syndrome","Developmental Delay, Epilepsy, and Neonatal Diabetes","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","DEND syndrome, intermediate","Developmental Delay, Epilepsy, and Neonatal Diabetes","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes mellitus","Diabetes mellitus","Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes mellitus, neonatal","Neonatal diabetes mellitus","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes, juvenile-onset","Diabetes mellitus type 1","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes, neonatal","Neonatal diabetes mellitus","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes, neonatal with neurological symptoms","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes, permanent neonatal","Diabetes Mellitus, Permanent Neonatal","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes, transient neonatal","Diabetes Mellitus, Transient Neonatal","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Diabetes, type 1B","Insulin dependent diabetes mellitus type 1B","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Hyperinsulinism","Hyperinsulinism","Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Hyperinsulinism of infancy","PHHI - Persistent hyperinsulinemic hypoglycemia of infancy","Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Hypoglycaemia, persistent hyperinsulinaemic","Hyperinsulinemic hypoglycemia, familial, 2","Autosomal Dominant","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Hypoglycaemia, persistent hyperinsulinaemic","Hyperinsulinemic hypoglycemia, familial, 2","Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Diabetes mellitus, transient neonatal 3:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 2:Autosomal Recessive$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, With Neurologic Features:Autosomal Dominant$Transient neonatal diabetes mellitus:Autosomal Dominant$Permanent neonatal diabetes mellitus:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ11","Sudden cardiac death in acute myocardial infarction","NULL","No disease association PMID 14871556","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3767[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600937~-","KCNJ11"]
["KCNJ13","Leber congenital amaurosis","Leber congenital amaurosis 16","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Snowflake vitreoretinal degeneration:Autosomal Dominant","Leber's amaurosis:Autosomal Recessive$Snowflake vitreoretinal degeneration:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1298~603208~-","KCNJ13"]
["KCNJ13","Snowflake vitreoretinal degeneration","Snowflake vitreoretinal degeneration","Autosomal Dominant","Leber's amaurosis:Autosomal Recessive$Snowflake vitreoretinal degeneration:Autosomal Dominant","Leber's amaurosis:Autosomal Recessive$Snowflake vitreoretinal degeneration:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1298~603208~-","KCNJ13"]
["KCNJ2","Andersen syndrome","Andersen Tawil syndrome","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry","Andersen Tawil syndrome","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Andersen-Tawil syndrome","Andersen Tawil syndrome","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Periodic paralysis","Periodic paralysis","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Short QT syndrome","Short QT Syndrome","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Short QT syndrome 3","Short QT Syndrome 3","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ2","Ventricular tachycardia","Ventricular tachycardia","Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","Andersen Tawil syndrome:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Short QT Syndrome 3:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3759[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1264~600681~-","KCNJ2"]
["KCNJ5","Aldosteronism with bilateral adrenal hyperplasia","Hyperaldosteronism, familial, type III","Autosomal Dominant","Hyperaldosteronism, familial, type III:Autosomal Dominant$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3762[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~600734~-","KCNJ5"]
["KCNJ5","Aldosteronism, early-onset","Hyperaldosteronism, familial, type III","Autosomal Dominant","Hyperaldosteronism, familial, type III:Autosomal Dominant$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3762[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~600734~-","KCNJ5"]
["KCNJ5","Hyperaldosteronism & early-onset hypertension","Hyperaldosteronism, familial, type III","Autosomal Dominant","Hyperaldosteronism, familial, type III:Autosomal Dominant$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3762[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~600734~-","KCNJ5"]
["KCNJ5","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Hyperaldosteronism, familial, type III:Autosomal Dominant$Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Glucocorticoid-suppressible hyperaldosteronism:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3762[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~600734~-","KCNJ5"]
["KCNJ8","Sudden infant death syndrome","Sudden infant death syndrome","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3764[geneid]~-~600935~-","KCNJ8"]
["KCNJ8","Ventricular fibrillation","Ventricular fibrillation","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3764[geneid]~-~600935~-","KCNJ8"]
["KCNK18","Migraine with aura","Migraine with aura","Autosomal Dominant","Migraine:Risk","Migraine:Risk","HIGH","-~-~613655~-","KCNK18"]
["KCNK18","Reduced basal current","NULL","No disease association PMID 22355750","NULL","NULL","HIGH","-~-~613655~-","KCNK18"]
["KCNK18","Zero basal current","NULL","No disease association PMID 22355751","NULL","NULL","HIGH","-~-~613655~-","KCNK18"]
["KCNK3","Pulmonary arterial hypertension","Primary pulmonary hypertension","Autosomal Dominant","Primary pulmonary hypertension:Autosomal Dominant","Primary pulmonary hypertension:Autosomal Dominant","HIGH","-~-~603220~-","KCNK3"]
["KCNK9","Birk Barel mental retardation dysmorphism syndrome","Birk-Barel Mental Retardation Dysmorphism Syndrome","Autosomal Dominant","Birk-Barel Mental Retardation Dysmorphism Syndrome:Autosomal Dominant","Birk-Barel Mental Retardation Dysmorphism Syndrome:Autosomal Dominant","HIGH","-~-~605874~-","KCNK9"]
["KCNMA1","Autism","Autistic Disorder","Risk","Generalized Epilepsy and Paroxysmal Dyskinesia:Autosomal Dominant","Generalized Epilepsy and Paroxysmal Dyskinesia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3778[geneid]~-~600150~-","KCNMA1"]
["KCNMA1","Generalized epilepsy and paroxysmal dyskinesia","Generalized Epilepsy and Paroxysmal Dyskinesia","Autosomal Dominant","Generalized Epilepsy and Paroxysmal Dyskinesia:Autosomal Dominant","Generalized Epilepsy and Paroxysmal Dyskinesia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3778[geneid]~-~600150~-","KCNMA1"]
["KCNN3","Schizophrenia","NULL","Disease association not conclusive PMID 11326292","NULL","NULL","HIGH","-~-~602983~-","KCNN3"]
["KCNN3","Schizophrenia","NULL","No conclusive association of gene-disease PMID 11326292","NULL","NULL","HIGH","-~-~602983~-","KCNN3"]
["KCNQ1","Altered channel function","Conduction disorder of the heart","Autosomal Dominant","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Atrial fibrillation","Atrial Fibrillation, Familial, 3","Autosomal Dominant","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Jervell and Lange-Nielsen syndrome","Jervell and Lange-Nielson syndrome","Autosomal Recessive","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Long QT syndrome & atrial fibrillation","Long QT syndrome","Autosomal Dominant","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Long QT syndrome, modifier of","Long QT syndrome","Autosomal Dominant","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Romano-Ward syndrome","Long QT syndrome;Romano-Ward syndrome","Autosomal Dominant","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Romano-Ward syndrome","Long QT syndrome;Romano-Ward syndrome","Autosomal Recessive","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Short QT syndrome","Short QT Syndrome","Autosomal Dominant","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ1","Sudden infant death syndrome","Sudden infant death syndrome","Risk","Atrial Fibrillation, Familial, 3:Autosomal Dominant$Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT Syndrome 1:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Long QT Syndrome 1:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Jervell and Lange-Nielson syndrome:Autosomal Recessive$Long QT syndrome:Autosomal Dominant$Romano-Ward syndrome:Autosomal Dominant$Long QT syndrome:Autosomal Recessive$Romano-Ward syndrome:Autosomal Recessive$Short QT Syndrome 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3784[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1394$http://www.ncbi.nlm.nih.gov/books/NBK1405$http://www.ncbi.nlm.nih.gov/books/NBK1129~607542~-","KCNQ1"]
["KCNQ2","Autism spectrum disorder","Autistic Disorder","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Epilepsy, benign neonatal","Benign neonatal familial convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Epilepsy, rolandic & benign neonatal convulsions","Benign Rolandic epilepsy;Benign neonatal familial convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Epilepsy, rolandic without neonatal seizures","Benign Rolandic epilepsy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Epileptic encephalopathy, early onset","Early infantile epileptic encephalopathy with suppression bursts","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Epileptic encephalopathy, neonatal","Early infantile epileptic encephalopathy with suppression bursts","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Infantile seizures","Familial neonatal seizures","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Ohtahara syndrome","Early infantile epileptic encephalopathy with suppression bursts","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Ohtahara/West syndrome","Early infantile epileptic encephalopathy with suppression bursts","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Peripheral nerve hyperexcitability","Myokymia","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Seizures, benign infantile","Benign neonatal convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Seizures, benign neonatal","Benign neonatal convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ2","Seizures, benign neonatal-infantile","Benign neonatal convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Myokymia:Autosomal Dominant$Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK32534~602235~-","KCNQ2"]
["KCNQ3","Epilepsy, benign neonatal","Benign neonatal familial convulsions","Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant$Convulsions benign familial neonatal dominant form:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3786[geneid]~-~602232~-","KCNQ3"]
["KCNQ3","Epilepsy, idiopathic","Idiopathic generalized epilepsy","Risk","Benign neonatal convulsions:Autosomal Dominant$Convulsions benign familial neonatal dominant form:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3786[geneid]~-~602232~-","KCNQ3"]
["KCNQ3","Epilepsy, rolandic & benign neonatal convulsions","Benign Rolandic epilepsy;Benign neonatal familial convulsions","Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant$Convulsions benign familial neonatal dominant form:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3786[geneid]~-~602232~-","KCNQ3"]
["KCNQ3","Epilepsy, rolandic without neonatal seizures","Benign Rolandic epilepsy","Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant$Convulsions benign familial neonatal dominant form:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3786[geneid]~-~602232~-","KCNQ3"]
["KCNQ3","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Benign neonatal convulsions:Autosomal Dominant$Convulsions benign familial neonatal dominant form:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3786[geneid]~-~602232~-","KCNQ3"]
["KCNQ3","Seizures, benign infantile","Benign neonatal convulsions","Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant$Convulsions benign familial neonatal dominant form:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Benign neonatal convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3786[geneid]~-~602232~-","KCNQ3"]
["KCNQ4","Deafness, Autosomal Dominant 2","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 2A:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9132[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1209~603537~-","KCNQ4"]
["KCNQ4","Hearing loss","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 2A:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9132[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1209~603537~-","KCNQ4"]
["KCNQ4","Hearing loss, non-syndromic, Autosomal Dominant","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 2A:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9132[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1209~603537~-","KCNQ4"]
["KCNQ4","Sensorineural hearing impairment, idiopathic","Sensorineural hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 2A:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9132[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1209~603537~-","KCNQ4"]
["KCNS1","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~602905~-","KCNS1"]
["KCNT1","Malignant migrating partial seizures in infancy","Migrating partial seizures in infancy","Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","HIGH","-~-~608167~-","KCNT1"]
["KCNT1","Nocturnal frontal lobe epilepsy, Autosomal Dominant","Nocturnal epilepsy","Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Nocturnal epilepsy:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","HIGH","-~-~608167~-","KCNT1"]
["KCNV2","Cone dystrophy with supernormal rod ERG","Retinal Cone Dystrophy 3B","Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","HIGH","-~-~607604~-","KCNV2"]
["KCNV2","Cone dystrophy, Autosomal Recessive","Retinal Cone Dystrophy 3B","Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","HIGH","-~-~607604~-","KCNV2"]
["KCNV2","Cone-rod dystrophy","Retinal Cone Dystrophy 3B","Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","HIGH","-~-~607604~-","KCNV2"]
["KCNV2","Epilepsy","Epilepsy","Autosomal Dominant","Retinal Cone Dystrophy 3B:Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","HIGH","-~-~607604~-","KCNV2"]
["KCNV2","Retinal dystrophy","Retinal dystrophy","Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","Retinal Cone Dystrophy 3B:Autosomal Recessive","HIGH","-~-~607604~-","KCNV2"]
["KCTD1","Scalp-ear-nipple syndrome","Scalp ear nipple syndrome","Autosomal Dominant","Scalp ear nipple syndrome:Autosomal Dominant","Scalp ear nipple syndrome:Autosomal Dominant","HIGH","-~-~613420~-","KCTD1"]
["KCTD7","Epilepsy, progressive myoclonic","Progressive myoclonic epilepsy","Autosomal Recessive","Epilepsy, Progressive Myoclonic 3:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=154881[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~611725~-","KCTD7"]
["KCTD7","Neuronal ceroid lipofuscinosis","Neuronal ceroid lipofuscinosis","Autosomal Recessive","Epilepsy, Progressive Myoclonic 3:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=154881[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~611725~-","KCTD7"]
["KCTD7","Opsoclonus myoclonus ataxia-like syndrome","Opsoclonus-Myoclonus Syndrome","Autosomal Recessive","Epilepsy, Progressive Myoclonic 3:Autosomal Recessive$Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=154881[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~611725~-","KCTD7"]
["KDM5A","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~180202~-","KDM5A"]
["KDM5A","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~180202~-","KDM5A"]
["KDM5B","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~605393~-","KDM5B"]
["KDM5C","Autism spectrum disorder","Autistic Disorder","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Jarid1c-Related:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8242[geneid]~-~314690~-","KDM5C"]
["KDM5C","Intellectual disability","Intellectual Disability","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Jarid1c-Related:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8242[geneid]~-~314690~-","KDM5C"]
["KDM5C","Intellectual disability, X-linked","Intellectual Disability","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Jarid1c-Related:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8242[geneid]~-~314690~-","KDM5C"]
["KDM5C","Mental retardation","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Jarid1c-Related:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8242[geneid]~-~314690~-","KDM5C"]
["KDM5C","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Jarid1c-Related:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8242[geneid]~-~314690~-","KDM5C"]
["KDM5C","Schizophrenia","Schizophrenia","Risk","Mental Retardation, X-Linked, Syndromic, Jarid1c-Related:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8242[geneid]~-~314690~-","KDM5C"]
["KDM6A","Kabuki make-up syndrome","Kabuki make-up syndrome","X-linked Dominant","Kabuki make-up syndrome:X-linked dominant","Kabuki make-up syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62111~300128~-","KDM6A"]
["KDM6A","Kabuki syndrome","Kabuki make-up syndrome","X-linked Dominant","Kabuki make-up syndrome:X-linked dominant","Kabuki make-up syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62111~300128~-","KDM6A"]
["KDM6A","Renal cancer","Malignant tumor of kidney","Risk","Kabuki make-up syndrome:X-linked dominant","Kabuki make-up syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62111~300128~-","KDM6A"]
["KDM6B","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~611577~-","KDM6B"]
["KDM6B","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~611577~-","KDM6B"]
["KDR","Increased mRNA levels","Small cell carcinoma of lung","Modifier","Hemangioma, capillary infantile:Risk","Hemangioma, capillary infantile:Risk","HIGH","-~-~191306~-","KDR"]
["KEAP1","Goitre, multinodular","Multinodular goiter","Autosomal Dominant",null,null,"HIGH","-~-~606016~-","KEAP1"]
["KEL","K(null) phenotype","Kell blood group system","Autosomal Recessive","Kell blood group system:Autosomal Recessive","Kell blood group system:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3792[geneid]~-~613883~-","KEL"]
["KEL","Kell blood group variation","Kell blood group system","Autosomal Dominant","Kell blood group system:Autosomal Recessive","Kell blood group system:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3792[geneid]~-~613883~-","KEL"]
["KERA","Cornea plana","Cornea plana","Autosomal Recessive","Cornea plana:Autosomal Recessive","Cornea plana:Autosomal Recessive","HIGH","-~-~603288~-","KERA"]
["KERA","Cornea plana 2","Cornea Plana 2","Autosomal Recessive","Cornea plana:Autosomal Recessive","Cornea plana:Autosomal Recessive","HIGH","-~-~603288~-","KERA"]
["KHDC3L","Hydatidiform mole, complete","Complete hydatidiform mole","Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","HIGH","-~-~611687~-","KHDC3L"]
["KHDC3L","Hydatidiform mole, familial biparental","Hydatidiform mole","Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","HIGH","-~-~611687~-","KHDC3L"]
["KHDC3L","Hydatidiform mole, recurrent","Hydatidiform mole","Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","HIGH","-~-~611687~-","KHDC3L"]
["KHK","Essential fructosuria","Fructosuria","Autosomal Recessive","Fructosuria:Autosomal Recessive","Fructosuria:Autosomal Recessive","HIGH","-~-~614058~-","KHK"]
["KIAA0100","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610664~-","KIAA0100"]
["KIAA0182","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23199[geneid]~-~-~-","GSE1"]
["KIAA0196","Spastic paraplegia","Spastic paraplegia 8, Autosomal Dominant","Autosomal Dominant","Spastic paraplegia 8, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1827~610657~-","KIAA0196"]
["KIAA0226","Ataxia, recessive","Ataxia","Autosomal Recessive","Ataxia:Autosomal Recessive","Ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9711[geneid]~-~613516~-","KIAA0226"]
["KIAA0232","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9778[geneid]~-~-~-","KIAA0232"]
["KIAA0317","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9870[geneid]~-~-~-","AREL1"]
["KIAA0330","Schwannomatosis","NULL","Autosomal Dominant (verify from full text PMID 16287142)","NULL","NULL","HIGH","-~-~604251~-","CABIN1"]
["KIAA0334","Sleep disorders","Disorder of sleep-wake cycle","Risk",null,null,"HIGH","-~-~601851~-","CLOCK"]
["KIAA0407","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601053~-","PLXNB1"]
["KIAA0415","Spastic paraplegia 48","Spastic paraplegia 48, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~613653~-","AP5Z1"]
["KIAA0424","Epileptic encephalopathy, early infantile","Hyperekplexia and Epilepsy","X-linked Recessive","Hyperekplexia and Epilepsy:X-linked Recessive","Hyperekplexia and Epilepsy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23229[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~300429~-","ARHGEF9"]
["KIAA0424","Hyperekplexia and epilepsy","Hyperekplexia and Epilepsy","X-linked Recessive","Hyperekplexia and Epilepsy:X-linked Recessive","Hyperekplexia and Epilepsy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23229[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~300429~-","ARHGEF9"]
["KIAA0441","Immunodeficiency, centromeric instability & facial anomalies syndrome","Immunodeficiency-centromeric instability-facial anomalies syndrome-2","Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","HIGH","-~-~614064~-","ZBTB24"]
["KIAA0441","Immunodeficiency, centromeric instability and facial anomalies syndrome","Immunodeficiency-centromeric instability-facial anomalies syndrome-2","Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","HIGH","-~-~614064~-","ZBTB24"]
["KIAA0591","Charcot-Marie-Tooth disease 2a","Charcot-Marie-Tooth Disease, Axonal, Type 2a1","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A1:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23095[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~605995~-","KIF1B"]
["KIAA0642","Parkinson disease","Parkinson Disease 11","Autosomal Dominant","Parkinson's disease:Autosomal Dominant$Parkinson Disease 11:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~-~612003~-","GIGYF2"]
["KIAA0928","Blastoma, pleuropulmonary","Pleuropulmonary blastoma","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Cystic nephroma","Malignant cystic nephroma","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Embryonal rhabdomyosarcomas","Embryonal rhabdomyosarcoma","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Gynandroblastoma","Gynandroblastoma","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Juvenile granulosa cell tumour","Juvenile granulosa cell tumor","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Multinodular goiter","Multinodular goiter","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Ovarian Sertoli-Leydig tumour","Sertoli-Leydig cell tumor of ovary","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Ovarian sex cord stromal tumour","Sex cord tumor of ovary","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Seminoma","Seminoma","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA0928","Wilms tumour","Nephroblastoma","Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant$Rhabdomyosarcoma, Embryonal, 2:Autosomal Dominant","Multinodular goiter:Autosomal Dominant$Pleuropulmonary blastoma:Autosomal Dominant$Embryonal rhabdomyosarcoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23405[geneid]~-~606241~-","DICER1"]
["KIAA1033","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Recessive","Intellectual disability:Risk","Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23325[geneid]~-~-~-","KIAA1033"]
["KIAA1199","Deafness","Deafness","Autosomal Dominant","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~608366~-","KIAA1199"]
["KIAA1207","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604603~-","MYOF"]
["KIAA1210","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","KIAA1210"]
["KIAA1217","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","KIAA1217"]
["KIAA1279","Goldberg-Shprintzen syndrome","Goldberg-Shprintzen megacolon syndrome","Autosomal Recessive","Goldberg-Shprintzen megacolon syndrome:Autosomal Recessive","Goldberg-Shprintzen megacolon syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26128[geneid]~-~609367~-","KIAA1279"]
["KIAA1336","Cranioectodermal dysplasia","Cranioectodermal dysplasia 2","Autosomal Recessive","Cranioectodermal dysplasia 2:Autosomal Recessive$Cranioectodermal Dysplasia:Autosomal Recessive$Short rib-polydactyly syndrome, type V:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Cranioectodermal Dysplasia:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~613602~-","WDR35"]
["KIAA1336","Short rib-polydactyly syndrome","Short rib-polydactyly syndrome, type V","Autosomal Recessive","Cranioectodermal dysplasia 2:Autosomal Recessive$Cranioectodermal Dysplasia:Autosomal Recessive$Short rib-polydactyly syndrome, type V:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Cranioectodermal Dysplasia:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~613602~-","WDR35"]
["KIAA1345","COACH syndrome","COACH syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["KIAA1345","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["KIAA1345","Meckel syndrome","Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["KIAA1345","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["KIAA1345","Mental retardation with retinitis pigmentosa","Mental retardation;Retinitis pigmentosa","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert Syndrome 9:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 6:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57545[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612013~-","CC2D2A"]
["KIAA1354","Myopathy, distal, early-onset","Distal muscular dystrophy","Autosomal Dominant",null,null,"HIGH","-~-~611201~-","KLHL9"]
["KIAA1432","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610354~-","KIAA1432"]
["KIAA1462","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~614398~-","KIAA1462"]
["KIAA1530","UV-sensitive syndrome","UV-Sensitive Syndrome","Autosomal Recessive","UV-Sensitive Syndrome:Autosomal Recessive","UV-Sensitive Syndrome:Autosomal Recessive","HIGH","-~-~614632~-","UVSSA"]
["KIAA1549","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~613344~-","KIAA1549"]
["KIAA1549","Retinitis pigmentosa","Retinitis pigmentosa","Risk",null,null,"HIGH","-~-~613344~-","KIAA1549"]
["KIAA1638","Jeune syndrome","Jeune thoracic dystrophy","Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","HIGH","-~-~608151~-","WDR19"]
["KIAA1638","Nephronophthisis","Nephronophthisis 13","Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","HIGH","-~-~608151~-","WDR19"]
["KIAA1638","Sensenbrenner syndrome","Cranioectodermal dysplasia","Autosomal Dominant","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","HIGH","-~-~608151~-","WDR19"]
["KIAA1669","Microcephaly with chorioretinopathy","Microcephaly with Chorioretinopathy, Autosomal Recessive","Autosomal Recessive","Microcephaly with Chorioretinopathy, Autosomal Recessive:Autosomal Recessive","Microcephaly with Chorioretinopathy, Autosomal Recessive:Autosomal Recessive","HIGH","-~-~610053~-","TUBGCP6"]
["KIAA1840","Amyotrophic lateral sclerosis, juvenile","Amyotrophic Lateral Sclerosis 4, Juvenile","Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80208[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1210~610844~-","SPG11"]
["KIAA1840","Kjellin syndrome","Spastic paraplegia 15, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80208[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1210~610844~-","SPG11"]
["KIAA1840","Spastic paraplegia with thin corpus callosum","Spastic paraplegia 11, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80208[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1210~610844~-","SPG11"]
["KIAA1840","Spastic paraplegia, Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80208[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1210~610844~-","SPG11"]
["KIAA1919","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","KIAA1919"]
["KIAA1967","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607359~-","KIAA1967"]
["KIAA1970","Leukoencephalopathy with thalamus & brainstem involvement","Combined Oxidative Phosphorylation Deficiency","Autosomal Recessive","Combined oxidative phosphorylation deficiency 12:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124454[geneid]~-~612799~-","EARS2"]
["KIAA2022","Autism spectrum disorder","Autistic Disorder","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=340533[geneid]~-~300524~-","KIAA2022"]
["KIAA2022","Intellectual disability with autism spectrum disorder","Intellectual Disability","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=340533[geneid]~-~300524~-","KIAA2022"]
["KIF11","Microcephaly, lymphoedema & chorioretinopathy","Lymphedema, microcephaly and chorioretinopathy syndrome","Autosomal Dominant","Lymphedema, microcephaly and chorioretinopathy syndrome:Autosomal Recessive","Lymphedema, microcephaly and chorioretinopathy syndrome:Autosomal Recessive","HIGH","-~-~148760~-","KIF11"]
["KIF17","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~605037~-","KIF17"]
["KIF1A","Intellectual disability, nonsyndromic","Intellectual Disability;Mental retardation, Autosomal Dominant 9","Autosomal Dominant","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia 30, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK49247~601255~-","KIF1A"]
["KIF1A","Neuropathy, hereditary sensory, type IIC","Neuropathy, hereditary sensory, type IIC","Autosomal Recessive","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia 30, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK49247~601255~-","KIF1A"]
["KIF1A","Spastic paraparesis","Spastic Paraplegia 30, Autosomal Recessive","Autosomal Recessive","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia 30, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK49247~601255~-","KIF1A"]
["KIF1A","Spastic paraplegia 30","Spastic Paraplegia 30, Autosomal Recessive","Autosomal Recessive","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia 30, Autosomal Recessive:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","Mental retardation:Autosomal Dominant$Hereditary sensory neuropathy:Autosomal Recessive$Spastic Paraplegia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK49247~601255~-","KIF1A"]
["KIF1B","Charcot-Marie-Tooth disease 2a","Charcot-Marie-Tooth Disease, Axonal, Type 2a1","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A1:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23095[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~605995~-","KIF1B"]
["KIF1B","Neural and nonneural tumours","Neuroblastoma;Pheochromocytoma","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A1:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23095[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~605995~-","KIF1B"]
["KIF1B","Neuroblastoma","Neuroblastoma","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A1:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23095[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~605995~-","KIF1B"]
["KIF21A","CFEOM1 & Marcus Gunn jaw-winking syndrome","Fibrosis Of Extraocular Muscles, Congenital, 1;Jaw-winking syndrome","Autosomal Dominant","Fibrosis Of Extraocular Muscles, Congenital, 1:Autosomal Dominant$Fibrosis of Extraocular Muscles, Congenital, 3B:Autosomal Dominant","Fibrosis Of Extraocular Muscles, Congenital, 1:Autosomal Dominant$Fibrosis of Extraocular Muscles, Congenital, 3B:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55605[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1348~608283~-","KIF21A"]
["KIF21A","Congenital fibrosis of the extraocular muscles 1","Fibrosis Of Extraocular Muscles, Congenital, 1","Autosomal Dominant","Fibrosis Of Extraocular Muscles, Congenital, 1:Autosomal Dominant$Fibrosis of Extraocular Muscles, Congenital, 3B:Autosomal Dominant","Fibrosis Of Extraocular Muscles, Congenital, 1:Autosomal Dominant$Fibrosis of Extraocular Muscles, Congenital, 3B:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55605[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1348~608283~-","KIF21A"]
["KIF22","Spondyloepimetaphyseal dysplasia with joint laxity","Spondyloepimetaphyseal dysplasia with joint laxity","Autosomal Dominant","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Dominant$Spondyloepimetaphyseal dysplasia with multiple dislocations:Autosomal Dominant","Spondyloepimetaphyseal dysplasia with joint laxity:Autosomal Dominant$Spondyloepimetaphyseal dysplasia with multiple dislocations:Autosomal Dominant","HIGH","-~-~603213~-","KIF22"]
["KIF23","Anaemia, dyserythropoietic congenital, type III","Congenital dyserythropoietic anemia, type III","Autosomal Dominant",null,null,"HIGH","-~-~605064~-","KIF23"]
["KIF2A","Malformation of cortical development","Cortical dysplasia, complex, with other brain malformations 3","Autosomal Dominant","Cortical dysplasia, complex, with other brain malformations 3:Autosomal Dominant","Cortical dysplasia, complex, with other brain malformations 3:Autosomal Dominant","HIGH","-~-~602591~-","KIF2A"]
["KIF5A","Spastic paraplegia","Spastic paraplegia 10, Autosomal Dominant","Autosomal Dominant","Spastic paraplegia 10, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3798[geneid]~-~602821~-","KIF5A"]
["KIF7","Acrocallosal syndrome","Acrocallosal Syndrome","Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Modifier","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Hydrolethalus","Hydrolethalus Syndrome 2","Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Intellectual disability","Intellectual Disability","Risk","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Joubert syndrome","Joubert syndrome 12","Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Joubert syndrome","Joubert syndrome 12/15","Autosomal Dominant, Digenic","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Macrocephaly, multiple epiphyseal dysplasia & facial features","Acrocallosal Syndrome","Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Meckel syndrome / hydrolethalus","Meckel-Gruber syndrome;Hydrolethalus Syndrome 2","Modifier","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Orofaciodigital type VI / Bardet-Biedl syndrome","Orofaciodigital syndrome 6;Bardet-Biedl syndrome","Modifier","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIF7","Pallister-Hall syndrome","Pallister-Hall syndrome","Modifier","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Acrocallosal Syndrome:Autosomal Recessive$Hydrolethalus syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~611254~-","KIF7"]
["KIR2DL3","KIR2DL3 variant","Transplanted organ rejection","Modifier",null,null,"HIGH","-~-~604938~-","KIR2DL3"]
["KIR3DL1","Increased expression levels","NULL","No disease associated PMID 18358829","NULL","NULL","HIGH","-~-~604946~-","KIR3DL1"]
["KIR3DL1","Receptor surface expression","NULL","No disease associated PMID 18453594","NULL","NULL","HIGH","-~-~604946~-","KIR3DL1"]
["KIR3DL1","Reduced expression levels","NULL","No disease associated PMID 18453594","NULL","NULL","HIGH","-~-~604946~-","KIR3DL1"]
["KIRREL3","Autism","Autistic Disorder","Risk","Mental Retardation, Autosomal Dominant 4:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84623[geneid]~-~607761~-","KIRREL3"]
["KIRREL3","Intellectual disability","Intellectual Disability","Autosomal Dominant","Mental Retardation, Autosomal Dominant 4:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84623[geneid]~-~607761~-","KIRREL3"]
["KISS1","Central precocious puberty, idiopathic","Idiopathic central precocious puberty","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3814[geneid]~-~603286~-","KISS1"]
["KISS1","Hypogonadotropic hypogonadism, normosmic idiopathic","Hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3814[geneid]~-~603286~-","KISS1"]
["KISS1","Kallmann syndrome / idiopathic hypogonadotropic hypogonadism","Hypogonadism with anosmia;Idiopathic hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3814[geneid]~-~603286~-","KISS1"]
["KISS1","Puberty delay / hypothalamic amenorrhea / Kallmann syndrome","Delay in sexual development AND/OR puberty;Hypothalamic amenorrhea;Hypogonadism with anosmia","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3814[geneid]~-~603286~-","KISS1"]
["KISS1R","Central precocious puberty","Idiopathic central precocious puberty","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive$Central precocious puberty:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~604161~-","KISS1R"]
["KISS1R","GnRH deficiency","Gonadotropin releasing factor deficiency","Risk","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive$Central precocious puberty:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~604161~-","KISS1R"]
["KISS1R","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive$Central precocious puberty:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~604161~-","KISS1R"]
["KISS1R","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive$Central precocious puberty:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~604161~-","KISS1R"]
["KISS1R","Hypogonadotropic hypogonadism, isolated","Hypogonadotropic hypogonadism due to isolated gonadotropin deficiency","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive$Central precocious puberty:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~604161~-","KISS1R"]
["KISS1R","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive$Central precocious puberty:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~604161~-","KISS1R"]
["KIT","Gastrointestinal stromal tumour & mastocytosis","Gastrointestinal stromal tumor;Mast cell hyperplasia","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","Gastrointestinal tumour, stromal","Gastrointestinal stromal tumor","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","Mastocytosis","Mast cell hyperplasia","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","Mastocytosis predisposition","Mast cell hyperplasia","Risk","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","Mastocytosis with haematologic disorder","Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","Mastocytosis, diffuse cutaneous","Cutaneous Mastocytosis, Diffuse","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","Piebaldism","Partial albinism","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","Piebaldism with cafe-au-lait macules & intertriginous freckling","Partial albinism","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant$Piebaldism:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Germ cell tumor:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Mast cell hyperplasia:Autosomal Dominant$Partial albinism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KIT","target gene mRNA duplex conformation","NULL","Not listed in HGMD","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3815[geneid]~-~164920~-","KIT"]
["KITLG","Progressive hyper- and hypopigmentation","Hyperpigmentation, Familial Progressive;Hypopigmentation disorder","Autosomal Dominant","Hyperpigmentation, Familial Progressive:Autosomal Dominant$Skin/Hair/Eye Pigmentation, Variation In, 7:Modifier","Hyperpigmentation, Familial Progressive:Autosomal Dominant$Skin/Hair/Eye Pigmentation, Variation In, 7:Modifier","HIGH","-~-~184745~-","KITLG"]
["KITLG","Progressive hyperpigmentation","Hyperpigmentation, Familial Progressive","Autosomal Dominant","Hyperpigmentation, Familial Progressive:Autosomal Dominant$Skin/Hair/Eye Pigmentation, Variation In, 7:Modifier","Hyperpigmentation, Familial Progressive:Autosomal Dominant$Skin/Hair/Eye Pigmentation, Variation In, 7:Modifier","HIGH","-~-~184745~-","KITLG"]
["KL","Tumoural calcinosis","Tumoral calcinosis","Autosomal Recessive","Tumoral Calcinosis, Hyperphosphatemic, Familial:Autosomal Recessive$Tumoral calcinosis:Autosomal Recessive","Tumoral calcinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9365[geneid]~-~604824~-","KL"]
["KLF1","Blood group variant In","Antigen in Lutheran (LU) blood group system","Autosomal Dominant","Congenital dyserythropoietic anemia IV:Autosomal Dominant$Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10661[geneid]~-~600599~-","KLF1"]
["KLF1","Borderline HbA2 level","Hemoglobin A2 level","Autosomal Dominant","Congenital dyserythropoietic anemia IV:Autosomal Dominant$Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10661[geneid]~-~600599~-","KLF1"]
["KLF1","Dyserythropoietic anaemia","Congenital dyserythropoietic anemia IV","Autosomal Dominant","Congenital dyserythropoietic anemia IV:Autosomal Dominant$Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10661[geneid]~-~600599~-","KLF1"]
["KLF1","Hereditary persistence of foetal haemoglobin","Hereditary persistence of fetal hemoglobin","Autosomal Dominant","Congenital dyserythropoietic anemia IV:Autosomal Dominant$Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10661[geneid]~-~600599~-","KLF1"]
["KLF1","Increased Hb F levels","Increased fetal hemoglobin","Autosomal Dominant","Congenital dyserythropoietic anemia IV:Autosomal Dominant$Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","Congenital dyserythropoietic anemia:Autosomal Dominant$Antigen in Lutheran (LU) blood group system:Autosomal Dominant$Hereditary persistence of fetal hemoglobin:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10661[geneid]~-~600599~-","KLF1"]
["KLF10","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7071[geneid]~-~601878~-","KLF10"]
["KLF11","Diabetes mellitus, type 2","Diabetes mellitus type 2","Risk","Maturity-Onset Diabetes of the Young, Type 7:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8462[geneid]~-~603301~-","KLF11"]
["KLF11","Maturity-Onset Diabetes of the Young, Type 7","Maturity-Onset Diabetes of the Young, Type 7","Autosomal Dominant","Maturity-Onset Diabetes of the Young, Type 7:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8462[geneid]~-~603301~-","KLF11"]
["KLF11","Reduced repression of catalase I transcription","NULL","Negated by PMID 19122346","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8462[geneid]~-~603301~-","KLF11"]
["KLF11","Reduced repression of insulin & catalase I transcription","NULL","Negated by PMID 19122346","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8462[geneid]~-~603301~-","KLF11"]
["KLF6","Prostate cancer","Malignant tumor of prostate","Autosomal Dominant","Malignant tumor of stomach:Autosomal Dominant$Malignant tumor of prostate:Autosomal Dominant","Malignant tumor of stomach:Autosomal Dominant$Malignant tumor of prostate:Autosomal Dominant","HIGH","-~-~602053~-","KLF6"]
["KLHL10","Oligozoospermia","Oligozoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~608778~-","KLHL10"]
["KLHL3","Hyperkalaemic hypertension","Pseudohypoaldosteronism, type 2","Autosomal Dominant","Pseudohypoaldosteronism, type 2:Autosomal Dominant$Pseudohypoaldosteronism, type 2:Autosomal Recessive$Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26249[geneid]~-~605775~-","KLHL3"]
["KLHL3","Hyperkalaemic hypertension","Pseudohypoaldosteronism, type 2","Autosomal Recessive","Pseudohypoaldosteronism, type 2:Autosomal Dominant$Pseudohypoaldosteronism, type 2:Autosomal Recessive$Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26249[geneid]~-~605775~-","KLHL3"]
["KLHL3","Pseudohypoaldosteronism type II","Pseudohypoaldosteronism, type 2","Autosomal Dominant","Pseudohypoaldosteronism, type 2:Autosomal Dominant$Pseudohypoaldosteronism, type 2:Autosomal Recessive$Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26249[geneid]~-~605775~-","KLHL3"]
["KLHL3","Pseudohypoaldosteronism type II","Pseudohypoaldosteronism, type 2","Autosomal Recessive","Pseudohypoaldosteronism, type 2:Autosomal Dominant$Pseudohypoaldosteronism, type 2:Autosomal Recessive$Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","Pseudohypoaldosteronism :Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26249[geneid]~-~605775~-","KLHL3"]
["KLHL40","Nemaline myopathy","Nemaline myopathy","Autosomal Recessive","Nemaline myopathy:Autosomal Recessive","Nemaline myopathy:Autosomal Recessive","HIGH","-~-~615340~-","KLHL40"]
["KLHL7","Retinitis pigmentosa","Retinitis Pigmentosa 42","Autosomal Dominant","Retinitis Pigmentosa 42:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55975[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~611119~-","KLHL7"]
["KLHL9","Myopathy, distal, early-onset","Distal muscular dystrophy","Autosomal Dominant",null,null,"HIGH","-~-~-~-","KIAA1354"]
["KLK12","Kallikrein deficiency","Malignant tumor of stomach","Risk",null,null,"HIGH","-~-~605539~-","KLK12"]
["KLK3","Altered PSA level","NULL","No disease association PMID 12865450","NULL","NULL","HIGH","-~-~229000~-","KLKB1"]
["KLK4","Amelogenesis imperfecta","Amelogenesis Imperfecta, Hypomaturation Type, IIa1","Autosomal Recessive","Amelogenesis Imperfecta, Hypomaturation Type, IIA1:Autosomal Recessive$Amelogenesis Imperfecta:Autosomal Recessive","Amelogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9622[geneid]~-~603767~-","KLK4"]
["KLKB1","Prekallikrein deficiency","Prekallikrein deficiency","Autosomal Recessive","Fletcher factor deficiency:Autosomal Recessive$Prekallikrein deficiency:Autosomal Recessive","Prekallikrein deficiency:Autosomal Recessive","HIGH","-~-~229000~-","KLKB1"]
["KLLN","Breast cancer","Malignant tumor of breast","Risk","Cowden syndrome:Autosomal Dominant","Cowden syndrome:Autosomal Dominant","HIGH","-~-~612105~-","KLLN"]
["KNG1","Kininogen deficiency","High molecular weight kininogen deficiency","Autosomal Recessive","High molecular weight kininogen deficiency:Autosomal Recessive$Kininogen Deficiency, High Molecular Weight and Low Molecular Weight:Autosomal Recessive","Kininogen Deficiency, High Molecular Weight and Low Molecular Weight:Autosomal Recessive","HIGH","-~-~612358~-","KNG1"]
["KRAS","Cardio-facio-cutaneous syndrome","Cardio-facio-cutaneous syndrome","Autosomal Dominant","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Noonan syndrome 3:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Nevus, Sebaceous of Jadassohn:Somatic mosaicism$Linear sebaceous nevus sequence:Somatic mosaicism","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~190070~-","KRAS"]
["KRAS","Colorectal cancer","Colorectal Cancer","Risk","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Noonan syndrome 3:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Nevus, Sebaceous of Jadassohn:Somatic mosaicism$Linear sebaceous nevus sequence:Somatic mosaicism","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~190070~-","KRAS"]
["KRAS","Costello syndrome","Costello syndrome","Autosomal Dominant","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Noonan syndrome 3:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Nevus, Sebaceous of Jadassohn:Somatic mosaicism$Linear sebaceous nevus sequence:Somatic mosaicism","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~190070~-","KRAS"]
["KRAS","Multiple mole melanoma syndrome","Malignant melanoma of skin","Autosomal Dominant","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Noonan syndrome 3:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Nevus, Sebaceous of Jadassohn:Somatic mosaicism$Linear sebaceous nevus sequence:Somatic mosaicism","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~190070~-","KRAS"]
["KRAS","Noonan syndrome","Noonan's syndrome","Autosomal Dominant","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Noonan syndrome 3:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Nevus, Sebaceous of Jadassohn:Somatic mosaicism$Linear sebaceous nevus sequence:Somatic mosaicism","Malignant tumor of urinary bladder:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Malignant tumor of stomach:Autosomal Dominant$Malignant neoplasm of lung:Autosomal Dominant$Carcinoma of pancreas:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Linear sebaceous nevus sequence:Somatic mosaicism$Cardio-facio-cutaneous syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3845[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~190070~-","KRAS"]
["KRIT1","Cavernous angioma","Cavernous hemangioma","Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant$Cavernous Malformations of CNS and Retina:Autosomal Dominant$Cerebral Cavernous Malformations:Autosomal Dominant$Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations:Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant$Cavernous Malformations of CNS and Retina:Autosomal Dominant$Cerebral Cavernous Malformations:Autosomal Dominant$Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1293~604214~-","KRIT1"]
["KRIT1","Cerebral cavernous malformations","Cavernous hemangioma of brain","Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant$Cavernous Malformations of CNS and Retina:Autosomal Dominant$Cerebral Cavernous Malformations:Autosomal Dominant$Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations:Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant$Cavernous Malformations of CNS and Retina:Autosomal Dominant$Cerebral Cavernous Malformations:Autosomal Dominant$Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1293~604214~-","KRIT1"]
["KRIT1","Phenotype modifier","Cavernous hemangioma of brain","Modifier","Cavernous hemangioma of brain:Autosomal Dominant$Cavernous Malformations of CNS and Retina:Autosomal Dominant$Cerebral Cavernous Malformations:Autosomal Dominant$Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations:Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant$Cavernous Malformations of CNS and Retina:Autosomal Dominant$Cerebral Cavernous Malformations:Autosomal Dominant$Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1293~604214~-","KRIT1"]
["KRT1","Epidermolytic hyperkeratosis","Epidermolytic palmoplantar keratoderma of Vorner","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Epidermolytic hyperkeratosis with palmoplantar hyperkeratosis & digit contractures","Epidermolytic palmoplantar keratoderma of Vorner","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Epidermolytic hyperkeratosis with palmoplantar hyperkeratosis & digit contractures","Epidermolytic palmoplantar keratoderma of Vorner","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Epidermolytic ichthyosis","Bullous ichthyosiform erythroderma","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Ichthyosis hystrix","Ichthyosis hystrix","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Ichthyosis hystrix, Curth-Macklin type","Ichthyosis hystrix of Curth-Macklin","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Ichthyosis, Curth-Macklin","Ichthyosis hystrix of Curth-Macklin","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Ichthyosis, with epidermolytic hyperkeratosis","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Keratoderma, epidermolytic palmoplantar with tontubular keratin","Epidermolytic palmoplantar keratoderma of Vorner","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Keratoderma, non-epidermolytic palmoplantar","Hyperkeratosis of the palms and soles and esophageal papillomas","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Keratoderma, palmoplantar","Hereditary palmoplantar keratoderma","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT1","Keratoderma, striate palmoplantar","Keratosis palmoplantaris striata 3","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","HIGH","-~-~139350~-","KRT1"]
["KRT10","Bullous erythroderma ichthyosiformis congenita","Bullous ichthyosiform erythroderma","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant","HIGH","-~-~148080~-","KRT10"]
["KRT10","Epidermolytic hyperkeratosis","Epidermolytic palmoplantar keratoderma of Vorner","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant","HIGH","-~-~148080~-","KRT10"]
["KRT10","Epidermolytic hyperkeratosis","Epidermolytic palmoplantar keratoderma of Vorner","Autosomal Recessive","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant","HIGH","-~-~148080~-","KRT10"]
["KRT10","Epidermolytic ichthyosis","Bullous ichthyosiform erythroderma","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant","HIGH","-~-~148080~-","KRT10"]
["KRT10","Epidermolytic ichthyosis, annular","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant","HIGH","-~-~148080~-","KRT10"]
["KRT10","Ichthyosis, with confetti","Erythrokeratoderma, Reticular","Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant$Epidermolytic hyperkeratosis:Autosomal Dominant$Ichthyosis hystrix of Curth-Macklin:Autosomal Dominant$Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:Autosomal Dominant$Keratosis palmoplantaris striata 3:Autosomal Dominant$Palmoplantar Keratoderma, Epidermolytic:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant","Bullous ichthyosiform erythroderma:Autosomal Dominant","HIGH","-~-~148080~-","KRT10"]
["KRT12","Corneal dystrophy, Meesmann","Juvenile epithelial corneal dystrophy","Autosomal Dominant","Juvenile epithelial corneal dystrophy:Autosomal Dominant$Meesmann Corneal Dystrophy:Autosomal Dominant","Juvenile epithelial corneal dystrophy:Autosomal Dominant","HIGH","-~-~601687~-","KRT12"]
["KRT13","White sponge nevus","White sponge nevus","Autosomal Dominant","White sponge nevus:Autosomal Dominant$Hereditary Mucosal Leukokeratosis:Autosomal Dominant","White sponge nevus:Autosomal Dominant","HIGH","-~-~148065~-","KRT13"]
["KRT14","Dermatopathia pigmentosa reticularis","Dermatopathia pigmentosa reticularis","Autosomal Dominant","Dermatopathia pigmentosa reticularis:Autosomal Dominant$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Naegeli syndrome:Autosomal Dominant$Naegeli-Franceschetti-Jadassohn syndrome:Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1369~148066~-","KRT14"]
["KRT14","Epidermolysis bullosa simplex","Epidermolysis bullosa simplex","Autosomal Dominant","Dermatopathia pigmentosa reticularis:Autosomal Dominant$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Naegeli syndrome:Autosomal Dominant$Naegeli-Franceschetti-Jadassohn syndrome:Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1369~148066~-","KRT14"]
["KRT14","Epidermolysis bullosa simplex","Epidermolysis bullosa simplex","Autosomal Recessive","Dermatopathia pigmentosa reticularis:Autosomal Dominant$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Naegeli syndrome:Autosomal Dominant$Naegeli-Franceschetti-Jadassohn syndrome:Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1369~148066~-","KRT14"]
["KRT14","Epidermolysis bullosa, Dowling-Meara","Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex","Autosomal Dominant","Dermatopathia pigmentosa reticularis:Autosomal Dominant$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Naegeli syndrome:Autosomal Dominant$Naegeli-Franceschetti-Jadassohn syndrome:Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1369~148066~-","KRT14"]
["KRT14","Epidermolysis bullosa, Koebner","Generalized epidermolysis bullosa simplex","Autosomal Dominant","Dermatopathia pigmentosa reticularis:Autosomal Dominant$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Naegeli syndrome:Autosomal Dominant$Naegeli-Franceschetti-Jadassohn syndrome:Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1369~148066~-","KRT14"]
["KRT14","Epidermolysis bullosa, Weber-Cockayne","Weber-Cockayne syndrome","Autosomal Dominant","Dermatopathia pigmentosa reticularis:Autosomal Dominant$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Naegeli syndrome:Autosomal Dominant$Naegeli-Franceschetti-Jadassohn syndrome:Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1369~148066~-","KRT14"]
["KRT14","Naegeli syndrome","Naegeli-Franceschetti-Jadassohn syndrome","Autosomal Dominant","Dermatopathia pigmentosa reticularis:Autosomal Dominant$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Naegeli syndrome:Autosomal Dominant$Naegeli-Franceschetti-Jadassohn syndrome:Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1369~148066~-","KRT14"]
["KRT16","Keratoderma, non-epidermolytic palmoplantar","Hyperkeratosis of the palms and soles and esophageal papillomas","Autosomal Dominant","Pachyonychia congenita syndrome:Autosomal Dominant$Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant$Jadassohn Lewandowsky Syndrome:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant",null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148067~-","KRT16"]
["KRT16","Pachyonychia congenita","Pachyonychia congenita syndrome","Autosomal Dominant","Pachyonychia congenita syndrome:Autosomal Dominant$Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant$Jadassohn Lewandowsky Syndrome:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant",null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148067~-","KRT16"]
["KRT16","Pachyonychia congenita 1","Pachyonychia congenita syndrome","Autosomal Dominant","Pachyonychia congenita syndrome:Autosomal Dominant$Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant$Jadassohn Lewandowsky Syndrome:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant",null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148067~-","KRT16"]
["KRT16","Pachyonychia congenita with palmoplantar keratoderma","Pachyonychia congenita syndrome;Palmoplantar keratoderma","Autosomal Dominant","Pachyonychia congenita syndrome:Autosomal Dominant$Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant$Jadassohn Lewandowsky Syndrome:Autosomal Dominant$Palmoplantar Keratoderma, Nonepidermolytic:Autosomal Dominant",null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148067~-","KRT16"]
["KRT17","Diabetes, MODY","Steatocystoma multiplex","Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148069~-","KRT17"]
["KRT17","Keratitis-ichthyosis-deafness syndrome, modifier of","Keratitis ichthyosis and deafness syndrome","Modifier","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148069~-","KRT17"]
["KRT17","Pachyonychia congenita","Pachyonychia congenita syndrome","Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148069~-","KRT17"]
["KRT17","Pachyonychia congenita 1","Pachyonychia Congenita, Jadassohn Lewandowsky Type","Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148069~-","KRT17"]
["KRT17","Pachyonychia congenita 2","Pachyonychia congenita type II of Jackson-Lawler","Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148069~-","KRT17"]
["KRT17","Steatocystoma multiplex","Steatocystoma multiplex","Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant$Steatocystoma multiplex:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148069~-","KRT17"]
["KRT18","Cryptogenic cirrhosis","Cryptogenic cirrhosis","Risk","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148070~- 901157","KRT18"]
["KRT18","Inflammatory bowel disease","Inflammatory bowel disease","Risk","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148070~-15090596","KRT18"]
["KRT18","Liver disease","Cryptogenic cirrhosis","Risk","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148070~- 901157","KRT18"]
["KRT2","Ichthyosis bullosa, Siemens","Ichthyosis bullosa of Siemens","Autosomal Dominant","Ichthyosis bullosa of Siemens:Autosomal Dominant$Bullous Type Ichthyoses:Autosomal Dominant","Ichthyosis bullosa of Siemens:Autosomal Dominant","HIGH","-~-~600194~-","KRT2"]
["KRT3","Corneal dystrophy, Meesmann","Juvenile epithelial corneal dystrophy","Autosomal Dominant","Ichthyosis bullosa of Siemens:Autosomal Dominant$Bullous Type Ichthyoses:Autosomal Dominant","Ichthyosis bullosa of Siemens:Autosomal Dominant","HIGH","-~-~148043~-","KRT3"]
["KRT31","Alternative splicing","NULL","No disease associated","NULL","NULL","HIGH","-~-~601077~-","KRT31"]
["KRT31","Alternative splicing","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~601077~-","KRT31"]
["KRT4","Oral white sponge nevus","White sponge nevus","Autosomal Dominant","White sponge nevus:Autosomal Dominant$Hereditary Mucosal Leukokeratosis:Autosomal Dominant","White sponge nevus:Autosomal dominan","HIGH","-~-~123940~-","KRT4"]
["KRT4","White sponge nevus","White sponge nevus","Autosomal Dominant","White sponge nevus:Autosomal Dominant$Hereditary Mucosal Leukokeratosis:Autosomal Dominant","White sponge nevus:Autosomal dominan","HIGH","-~-~123940~-","KRT4"]
["KRT5","Dowling-Degos disease","Reticulate acropigmentation of Kitamura","Autosomal Dominant","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT5","Epidermolysis bullosa simplex","Epidermolysis bullosa simplex","Autosomal Dominant","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT5","Epidermolysis bullosa simplex","Epidermolysis bullosa simplex","Autosomal Recessive","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT5","Epidermolysis bullosa simplex, with verrucous carcinoma","Epidermolysis bullosa simplex;Verrucous carcinoma","Autosomal Dominant","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT5","Epidermolysis bullosa, Dowling-Meara","Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex","Autosomal Dominant","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT5","Epidermolysis bullosa, Koebner","Generalized epidermolysis bullosa simplex","Autosomal Dominant","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT5","Epidermolysis bullosa, modifier of","Epidermolysis bullosa simplex","Modifier","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT5","Epidermolysis bullosa, Weber-Cockayne","Weber-Cockayne syndrome","Autosomal Dominant","Dowling-Degos Disease$Reticulate acropigmentation of Kitamura$Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex:Autosomal Dominant$Generalized epidermolysis bullosa simplex:Autosomal Dominant$Weber-Cockayne syndrome:Autosomal Dominant$Epidermolysis Bullosa Simplex, Weber-Cockayne Type:Autosomal Dominant$Epidermolysis Bullosa Simplex, Autosomal Recessive :Autosomal Recessive$Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex with mottled pigmentation:Autosomal Dominant$Epidermolysis Bullosa Simplex with Migratory Circinate Erythema:Autosomal Dominant","Epidermolysis Bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3852[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1369~148040~-","KRT5"]
["KRT6A","Pachyonychia congenita","Pachyonychia Congenita, Jadassohn Lewandowsky Type","Autosomal Dominant","Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant$Jadassohn Lewandowsky Syndrome:Autosomal Dominant","Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148041~-","KRT6A"]
["KRT6A","Pachyonychia congenita 1","Pachyonychia Congenita, Jadassohn Lewandowsky Type","Autosomal Dominant","Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant$Jadassohn Lewandowsky Syndrome:Autosomal Dominant","Pachyonychia Congenita, Jadassohn Lewandowsky Type:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148041~-","KRT6A"]
["KRT6B","Pachyonychia congenita","Pachyonychia congenita type II of Jackson-Lawler","Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant","Pachyonychia congenita, Jackson-Lawler type:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1280~148042~-","KRT6B"]
["KRT6C","Focal palmoplantar keratoderma","Palmoplantar keratoderma;Keratoderma with pachyonychia congenita","Autosomal Dominant",null,null,"HIGH","-~-~612315~-","KRT6C"]
["KRT71","Woolly hair, Autosomal Dominant & hypotrichosis","Wooly hair;Hypotrichosis","Autosomal Dominant",null,null,"HIGH","-~-~608245~-","KRT71"]
["KRT74","Hypotrichosis Simplex of Scalp","Hypotrichosis Simplex of Scalp","Autosomal Dominant","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Autosomal Dominant familial woolly hair:Autosomal Dominant","Hypotrichosis Simplex of Scalp:Autosomal Dominant","HIGH","-~-~608248~-","KRT74"]
["KRT74","Woolly hair, Autosomal Dominant","Wooly hair","Autosomal Dominant","Hypotrichosis Simplex of Scalp:Autosomal Dominant$Autosomal Dominant familial woolly hair:Autosomal Dominant","Hypotrichosis Simplex of Scalp:Autosomal Dominant","HIGH","-~-~608248~-","KRT74"]
["KRT75","Loose anagen hair syndrome","Loose anagen hair syndrome","Autosomal Dominant","Pseudofolliculitis barbae:Risk","Pseudofolliculitis barbae:Risk","HIGH","-~-~609025~-","KRT75"]
["KRT75","Respiratory disease, aspirin-exacerbated, reduced risk","Aspirin-sensitive asthma with nasal polyps","Decreased Risk","Pseudofolliculitis barbae:Risk","Pseudofolliculitis barbae:Risk","HIGH","-~-~609025~-","KRT75"]
["KRT8","Cryptogenic liver disease","Cryptogenic cirrhosis","Risk","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148060~-","KRT8"]
["KRT8","Fibrosis progression in hepatitis C infection","Chronic hepatitis C;Cirrhosis of liver","Risk","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148060~-","KRT8"]
["KRT8","Inflammatory bowel disease","Inflammatory bowel disease","Autosomal Dominant","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148060~-","KRT8"]
["KRT8","Liver disease","Cryptogenic cirrhosis","Risk","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148060~-","KRT8"]
["KRT8","Ulcerative colitis","Ulcerative colitis","Autosomal Dominant","Cryptogenic cirrhosis:Risk","Cryptogenic cirrhosis:Risk","HIGH","-~-~148060~-","KRT8"]
["KRT81","Monilethrix","Beaded hair","Autosomal Dominant","Beaded hair:Autosomal Dominant$Monilethrix:Autosomal Dominant","Beaded hair:Autosomal Dominant","HIGH","-~-~602153~-","KRT81"]
["KRT83","Autism spectrum disorder","Autistic Disorder","Risk","Beaded hair:Autosomal Dominant$Monilethrix:Autosomal Dominant","Beaded hair:Autosomal Dominant","HIGH","-~-~602765~-","KRT83"]
["KRT83","Monilethrix","Beaded hair","Autosomal Dominant","Beaded hair:Autosomal Dominant$Monilethrix:Autosomal Dominant","Beaded hair:Autosomal Dominant","HIGH","-~-~602765~-","KRT83"]
["KRT85","Ectodermal dyplasia, hair-nail type","Ectodermal dysplasia with hair-nail defect","Autosomal Recessive","Ectodermal dysplasia with hair-nail defect:Autosomal Dominant$Ectodermal Dysplasia, Pure Hair-Nail Type:Autosomal Dominant","Ectodermal dysplasia with hair-nail defect:Autosomal Dominant","HIGH","-~-~602767~-","KRT85"]
["KRT86","Monilethrix","Beaded hair","Autosomal Dominant","Beaded hair:Autosomal Dominant$Monilethrix:Autosomal Dominant","Beaded hair:Autosomal Dominant","HIGH","-~-~601928~-","KRT86"]
["KRT9","Keratoderma, epidermolytic palmoplantar","Epidermolytic palmoplantar keratoderma of Vorner","Autosomal Dominant","Epidermolytic Palmoplantar Keratoderma:Autosomal Dominant","Epidermolytic Palmoplantar Keratoderma:Autosomal Dominant","HIGH","-~-~607606~-","KRT9"]
["KYNU","Xanthurenic aciduria","Xanthurenic aciduria;Hydroxykynureninuria","Autosomal Recessive",null,null,"HIGH","-~-~605197~-","KYNU"]
["L1CAM","Hirschsprung disease","Hirschsprung's disease","X-linked Recessive","Partial agenesis of corpus callosum:X-linked Recessive$X-linked hydrocephalus syndrome:X-linked Recessive$Hydrocephalus with Hirschsprung disease:X-linked Recessive$Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction:X-linked Recessive$MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome:X-linked Recessive",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1484~308840~-","L1CAM"]
["L1CAM","Hirschsprung disease & hydrocephalus, X-linked","Hydrocephalus with Hirschsprung disease","X-linked Recessive","Partial agenesis of corpus callosum:X-linked Recessive$X-linked hydrocephalus syndrome:X-linked Recessive$Hydrocephalus with Hirschsprung disease:X-linked Recessive$Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction:X-linked Recessive$MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome:X-linked Recessive",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1484~308840~-","L1CAM"]
["L1CAM","Hydrocephalus, MASA","MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome","X-linked Recessive","Partial agenesis of corpus callosum:X-linked Recessive$X-linked hydrocephalus syndrome:X-linked Recessive$Hydrocephalus with Hirschsprung disease:X-linked Recessive$Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction:X-linked Recessive$MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome:X-linked Recessive",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1484~308840~-","L1CAM"]
["L1CAM","Hydrocephalus, X-linked","X-linked hydrocephalus syndrome","X-linked Recessive","Partial agenesis of corpus callosum:X-linked Recessive$X-linked hydrocephalus syndrome:X-linked Recessive$Hydrocephalus with Hirschsprung disease:X-linked Recessive$Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction:X-linked Recessive$MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome:X-linked Recessive",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1484~308840~-","L1CAM"]
["L1CAM","L1 syndrome","X-linked hydrocephalus syndrome;MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome;X-Linked, Spastic Paraplegia, Hereditary;Partial agenesis of corpus callosum","X-linked Recessive","Partial agenesis of corpus callosum:X-linked Recessive$X-linked hydrocephalus syndrome:X-linked Recessive$Hydrocephalus with Hirschsprung disease:X-linked Recessive$Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction:X-linked Recessive$MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome:X-linked Recessive",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1484~308840~-","L1CAM"]
["L1CAM","MASA syndrome","MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome","X-linked Recessive","Partial agenesis of corpus callosum:X-linked Recessive$X-linked hydrocephalus syndrome:X-linked Recessive$Hydrocephalus with Hirschsprung disease:X-linked Recessive$Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction:X-linked Recessive$MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome:X-linked Recessive",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1484~308840~-","L1CAM"]
["L1CAM","Spastic paraplegia","Spastic paraplegia","X-linked Recessive","Partial agenesis of corpus callosum:X-linked Recessive$X-linked hydrocephalus syndrome:X-linked Recessive$Hydrocephalus with Hirschsprung disease:X-linked Recessive$Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction:X-linked Recessive$MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome:X-linked Recessive",null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3897[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1484~308840~-","L1CAM"]
["L2HGDH","L-2-Hydroxyglutaric aciduria","L-2-hydroxyglutaric aciduria","Autosomal Recessive","L-2-hydroxyglutaric aciduria:Autosomal Recessive","L-2-hydroxyglutaric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79944[geneid]~-~609584~-","L2HGDH"]
["L3MBTL1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~-~-","L3MBTL"]
["LAMA1","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~150320~-","LAMA1"]
["LAMA2","Congenital muscular dystrophy","Muscular dystrophy congenital, merosin negative","Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive$Merosin deficient congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency:Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK97333~156225~-","LAMA2"]
["LAMA2","Laminin alpha 2 chain deficiency, partial","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency","Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive$Merosin deficient congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency:Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK97333~156225~-","LAMA2"]
["LAMA2","Muscular dystrophy, congenital 1A","Merosin deficient congenital muscular dystrophy","Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive$Merosin deficient congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency:Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK97333~156225~-","LAMA2"]
["LAMA2","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive$Merosin deficient congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency:Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK97333~156225~-","LAMA2"]
["LAMA2","Muscular dystrophy, merosin deficient","Merosin deficient congenital muscular dystrophy","Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive$Merosin deficient congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency:Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK97333~156225~-","LAMA2"]
["LAMA2","Schizophrenia","Schizophrenia","Risk","Muscular dystrophy congenital, merosin negative:Autosomal Recessive$Merosin deficient congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency:Autosomal Recessive","Muscular dystrophy congenital, merosin negative:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3908[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK97333~156225~-","LAMA2"]
["LAMA3","Epidermolysis bullosa, Herlitz","Junctional epidermolysis bullosa gravis of Herlitz","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Junctional epidermolysis bullosa:Autosomal Recessive$Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive$Laryngo onycho cutaneous syndrome:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Junctional epidermolysis bullosa:Autosomal Recessive$Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive$Laryngo onycho cutaneous syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3909[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~600805~-","LAMA3"]
["LAMA3","Epidermolysis bullosa, junctional","Junctional epidermolysis bullosa mitis","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Junctional epidermolysis bullosa:Autosomal Recessive$Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive$Laryngo onycho cutaneous syndrome:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Junctional epidermolysis bullosa:Autosomal Recessive$Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive$Laryngo onycho cutaneous syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3909[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~600805~-","LAMA3"]
["LAMA3","Laryngo-onycho-cutaneous syndrome","Laryngo onycho cutaneous syndrome","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Junctional epidermolysis bullosa:Autosomal Recessive$Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive$Laryngo onycho cutaneous syndrome:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Junctional epidermolysis bullosa:Autosomal Recessive$Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive$Laryngo onycho cutaneous syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3909[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~600805~-","LAMA3"]
["LAMA4","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3910[geneid]~-~600133~-","LAMA4"]
["LAMB1","Cobblestone brain malformation","Lissencephaly","Autosomal Recessive","Lissencephaly:Autosomal Recessive","Lissencephaly:Autosomal Recessive","HIGH","-~-~150240~-","LAMB1"]
["LAMB2","Myasthenic syndrome, congenital, synaptic","Familial infantile myasthenia","Autosomal Recessive","Steroid-resistant nephrotic syndrome:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive$Pierson syndrome:Autosomal Recessive","Steroid-resistant nephrotic syndrome:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive$Pierson syndrome:Autosomal Recessive","HIGH","-~-~150290~-","LAMC1"]
["LAMB2","Nephrotic syndrome","Steroid-resistant nephrotic syndrome","Autosomal Recessive","Steroid-resistant nephrotic syndrome:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive$Pierson syndrome:Autosomal Recessive","Steroid-resistant nephrotic syndrome:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive$Pierson syndrome:Autosomal Recessive","HIGH","-~-~150290~-","LAMC1"]
["LAMB2","Pierson syndrome","Pierson syndrome;Congenital nephrotic syndrome","Autosomal Recessive","Steroid-resistant nephrotic syndrome:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive$Pierson syndrome:Autosomal Recessive","Steroid-resistant nephrotic syndrome:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive$Pierson syndrome:Autosomal Recessive","HIGH","-~-~150290~-","LAMC1"]
["LAMB3","Epidermolysis bullosa, atrophic benign","Junctional epidermolysis bullosa mitis","Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~150310~-","LAMB3"]
["LAMB3","Epidermolysis bullosa, Herlitz","Junctional epidermolysis bullosa gravis of Herlitz","Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~150310~-","LAMB3"]
["LAMB3","Epidermolysis bullosa, junctional","Junctional epidermolysis bullosa","Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~150310~-","LAMB3"]
["LAMB4","Colorectal cancer","Colorectal Cancer","Risk",null,null,null,"-~-~-~-","LAMB4"]
["LAMC1","Dandy-Walker malformation and occipital cephaloceles","Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant","Autosomal Dominant",null,null,"HIGH","-~-~150290~-","LAMC1"]
["LAMC2","Epidermolysis bullosa, Herlitz","Junctional epidermolysis bullosa gravis of Herlitz","Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3918[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~150292~-","LAMC2"]
["LAMC2","Epidermolysis bullosa, junctional","Junctional epidermolysis bullosa","Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Epidermolysis bullosa, junctional, Herlitz type:Autosomal Recessive$Epidermolysis Bullosa, Junctional, Non-Herlitz Type:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","Junctional epidermolysis bullosa gravis of Herlitz:Autosomal Recessive$Adult junctional epidermolysis bullosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3918[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1125~150292~-","LAMC2"]
["LAMC3","Autism","Autistic Disorder","Risk","Cortical malformations, occipital:Autosomal Recessive","Cortical malformations, occipital:Autosomal Recessive","HIGH","-~-~604349~-","LAMC3"]
["LAMC3","Autism spectrum disorder","Autistic Disorder","Risk","Cortical malformations, occipital:Autosomal Recessive","Cortical malformations, occipital:Autosomal Recessive","HIGH","-~-~604349~-","LAMC3"]
["LAMC3","Bilateral occipital pachygyria","Pachygyria, occipital","Autosomal Recessive","Cortical malformations, occipital:Autosomal Recessive","Cortical malformations, occipital:Autosomal Recessive","HIGH","-~-~604349~-","LAMC3"]
["LAMC3","Colorectal cancer","Colorectal Cancer","Risk","Cortical malformations, occipital:Autosomal Recessive","Cortical malformations, occipital:Autosomal Recessive","HIGH","-~-~604349~-","LAMC3"]
["LAMC3","Occipital pachygyria","Pachygyria, occipital","Autosomal Recessive","Cortical malformations, occipital:Autosomal Recessive","Cortical malformations, occipital:Autosomal Recessive","HIGH","-~-~604349~-","LAMC3"]
["LAMP2","Accessory atrioventricular connection","Congenital anomaly of cardiovascular system","X-linked Dominant","Danon disease:X-linked dominant","Danon disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3920[geneid]~-~309060~-","LAMP2"]
["LAMP2","Danon disease","Danon disease","X-linked Dominant","Danon disease:X-linked dominant","Danon disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3920[geneid]~-~309060~-","LAMP2"]
["LAMP2","Glycogen storage disease 2b","Danon disease","X-linked Dominant","Danon disease:X-linked dominant","Danon disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3920[geneid]~-~309060~-","LAMP2"]
["LAMP2","Increased transcriptional activity","Parkinson's disease","Risk","Danon disease:X-linked dominant","Danon disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3920[geneid]~-~309060~-","LAMP2"]
["LAMP2","Parkinson disease","Parkinson's disease","Risk","Danon disease:X-linked dominant","Danon disease:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3920[geneid]~-~309060~-","LAMP2"]
["LAPTM4B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613296~-","LAPTM4B"]
["LARGE","Alpha-dystroglycanopathy","Muscle eye brain disease;Muscular Dystrophy, Congenital, Type 1D","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9215[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~603590~-","LARGE"]
["LARGE","Muscular dystrophy, congenital 1D","Muscular Dystrophy, Congenital, Type 1D","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9215[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~603590~-","LARGE"]
["LARGE","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, Type 1D:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9215[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~603590~-","LARGE"]
["LARP7","Primordial dwarfism","Primordial dwarfism","Autosomal Recessive","Alazami syndrome:Autosomal Recessive","Alazami syndrome:Autosomal Recessive","HIGH","-~-~612026~-","LARP7"]
["LARS","Infantile hepatopathy","Disease of liver","Autosomal Recessive","Disease of liver:Autosomal Recessive","Disease of liver:Autosomal Recessive","HIGH","-~-~151350~-","LARS"]
["LARS2","Perrault syndrome","Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance","Autosomal Recessive","Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance:Autosomal Recessive","Gonadal dysgenesis with auditory dysfunction, Autosomal Recessive inheritance:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23395[geneid]~-~604544~-","LARS2"]
["LBR","Greenberg skeletal dysplasia","Greenberg dysplasia","Autosomal Recessive","Greenberg dysplasia:Autosomal Recessive$Pelger-Huet anomaly:Autosomal Dominant$Reynold's syndrome:Autosomal Dominant","Greenberg dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3930[geneid]~-~600024~-","LBR"]
["LBR","Pelger-Huet anomaly","Pelger-Hu?t anomaly","Autosomal Dominant","Greenberg dysplasia:Autosomal Recessive$Pelger-Huet anomaly:Autosomal Dominant$Reynold's syndrome:Autosomal Dominant","Greenberg dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3930[geneid]~-~600024~-","LBR"]
["LBR","Reynolds syndrome","Reynold's syndrome","Autosomal Dominant","Greenberg dysplasia:Autosomal Recessive$Pelger-Huet anomaly:Autosomal Dominant$Reynold's syndrome:Autosomal Dominant","Greenberg dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3930[geneid]~-~600024~-","LBR"]
["LCA5","Leber congenital amaurosis","Amaurosis congenita of Leber, type 5","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Amaurosis congenita of Leber, type 5:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=167691[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~611408~-","LCA5"]
["LCA5","Retinitis pigmentosa","Retinitis pigmentosa","Risk","Leber's amaurosis:Autosomal Recessive$Amaurosis congenita of Leber, type 5:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=167691[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~611408~-","LCA5"]
["LCAT","cholesterol acyltransferase deficiency","Phosphatidylcholine-sterol acyltransferase deficiency","Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive$Norum disease:Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3931[geneid]~-~606967~-","LCAT"]
["LCAT","Fish eye disease","Fish-eye disease","Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive$Norum disease:Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3931[geneid]~-~606967~-","LCAT"]
["LCAT","Lecithin:cholesterol acyltransferase deficiency","Lecithin cholesterol acyltransferase deficiency","Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive$Norum disease:Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3931[geneid]~-~606967~-","LCAT"]
["LCAT","Norum disease","Phosphatidylcholine-sterol acyltransferase deficiency","Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive$Norum disease:Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3931[geneid]~-~606967~-","LCAT"]
["LCAT","Reduced high density lipoprotein-cholesterol","High density lipoprotein cholesterol level","Autosomal Dominant","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive$Norum disease:Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3931[geneid]~-~606967~-","LCAT"]
["LCAT","Reduced plasma HDL cholesterol","Plasma HDL cholesterol level","Autosomal Dominant","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive$Norum disease:Autosomal Recessive","Fish-eye disease:Autosomal Recessive$Phosphatidylcholine-sterol acyltransferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3931[geneid]~-~606967~-","LCAT"]
["LCE3B","Psoriasis","Psoriasis","Autosomal Recessive","Psoriasis:Risk","Psoriasis:Risk","HIGH","-~-~612614~-","LCE3B"]
["LCK","T-cell immunodeficiency","Severe combined immunodeficiency disease","Autosomal Recessive","Severe combined immunodeficiency disease:Autosomal Recessive","Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","-~-~153390~-","LCK"]
["LCN10","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612904~-","LCN10"]
["LCT","Lactase deficiency, congenital","Congenital lactase deficiency","Autosomal Recessive","Lactase deficiency, congenital:Autosomal Recessive","Lactase deficiency, congenital:Autosomal Recessive","HIGH","-~-~603202~-","LCT"]
["LDB3","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1C","Autosomal Dominant","Cardiomyopathy, Dilated, 1C:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myofibrillar, Zasp-Related:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myofibrillar, Zasp-Related:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11155[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~605906~-","LDB3"]
["LDB3","Left ventricular myocardial noncompaction cardiomyopathy","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1C:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myofibrillar, Zasp-Related:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myofibrillar, Zasp-Related:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11155[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~605906~-","LDB3"]
["LDB3","Myofibrillar myopathy","Myopathy, Myofibrillar, Zasp-Related","Autosomal Dominant","Cardiomyopathy, Dilated, 1C:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myofibrillar, Zasp-Related:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myofibrillar, Zasp-Related:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11155[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499$http://www.ncbi.nlm.nih.gov/books/NBK1309~605906~-","LDB3"]
["LDHA","Lactate dehydrogenase deficiency","Glycogenosis with glucoaminophosphaturia","Autosomal Recessive","Glycogen storage disease:Autosomal Recessive$Glycogen Storage Disease XI:Autosomal Recessive$Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive$Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3939[geneid]~-~150000~-","LDHA"]
["LDHB","Lactate dehydrogenase deficiency","Glycogenosis with glucoaminophosphaturia","Autosomal Dominant","Lactate Dehydrogenase B Deficiency:Autosomal Dominant$Glycogenosis with glucoaminophosphaturia:Autosomal Dominant$Lactate Dehydrogenase B Deficiency:Autosomal Recessive$Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","Glycogenosis with glucoaminophosphaturia:Autosomal Dominant$Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3945[geneid]~-~150100~-","LDHB"]
["LDHB","Lactate dehydrogenase deficiency","Glycogenosis with glucoaminophosphaturia","Autosomal Recessive","Lactate Dehydrogenase B Deficiency:Autosomal Dominant$Glycogenosis with glucoaminophosphaturia:Autosomal Dominant$Lactate Dehydrogenase B Deficiency:Autosomal Recessive$Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","Glycogenosis with glucoaminophosphaturia:Autosomal Dominant$Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3945[geneid]~-~150100~-","LDHB"]
["LDLR","Altered transcription","Familial hypercholesterolemia","Risk","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant$Plasma LDL cholesterol level:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3949[geneid]~-~606945~-","LDLR"]
["LDLR","Hypercholesterolaemia","Familial hypercholesterolemia","Autosomal Dominant","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant$Plasma LDL cholesterol level:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3949[geneid]~-~606945~-","LDLR"]
["LDLR","Increased plasma LDL cholesterol","Plasma LDL cholesterol level - high","Autosomal Dominant","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant$Plasma LDL cholesterol level:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3949[geneid]~-~606945~-","LDLR"]
["LDLRAD1","Breast or prostate cancer, increased risk","Malignant tumor of breast;Malignant tumor of prostate","Risk",null,null,null,"-~-~-~-","LDLRAD1"]
["LDLRAP1","Hypercholesterolaemia, Autosomal Recessive","Familial hypercholesterolemia","Autosomal Recessive","Familial hypercholesterolemia:Autosomal Recessive$Hypercholesterolemia:Autosomal Recessive","Hypercholesterolemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26119[geneid]~-~605747~-","LDLRAP1"]
["LEFTY2","Left-right axis malformation","Left-right axis malformation","Risk","Left-right axis malformation:Risk","Left-right axis malformation:Risk","HIGH","-~-~601877~-","LEFTY2"]
["LEMD3","Buschke-Ollendorff syndrome","Osteopoikilosis","Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Buschke-Ollendorff syndrome:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","HIGH","-~-~607844~-","LEMD3"]
["LEMD3","Collagenoma","Collagen nevus of skin","Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Buschke-Ollendorff syndrome:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","HIGH","-~-~607844~-","LEMD3"]
["LEMD3","Melorheostosis","Melorheostosis with Osteopoikilosis","Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Buschke-Ollendorff syndrome:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","HIGH","-~-~607844~-","LEMD3"]
["LEMD3","Osteopoikilosis","Osteopoikilosis","Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Buschke-Ollendorff syndrome:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","Osteopoikilosis:Autosomal Dominant$Melorheostosis with Osteopoikilosis:Autosomal Dominant","HIGH","-~-~607844~-","LEMD3"]
["LEP","Growth/puberty delay","Constitutional delay of growth and puberty","Autosomal Dominant","Morbid obesity:Autosomal Recessive","Morbid obesity:Autosomal Recessive","HIGH","-~-~164160~-","LEP"]
["LEP","Increased transcription","NULL","No disease associated PMID 12189581","NULL","NULL","HIGH","-~-~164160~-","LEP"]
["LEP","Leptin deficiency","Morbid obesity","Autosomal Recessive","Morbid obesity:Autosomal Recessive","Morbid obesity:Autosomal Recessive","HIGH","-~-~164160~-","LEP"]
["LEP","Low serum leptin levels","Decreased serum leptin","Risk","Morbid obesity:Autosomal Recessive","Morbid obesity:Autosomal Recessive","HIGH","-~-~164160~-","LEP"]
["LEPR","Altered carbohydrate metabolism","Obesity","Risk","Morbid obesity:Autosomal Recessive","Morbid obesity:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3953[geneid]~-~601007~-","LEPR"]
["LEPR","Obesity, early onset","Obesity, early-onset","Autosomal Recessive","Morbid obesity:Autosomal Recessive","Morbid obesity:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3953[geneid]~-~601007~-","LEPR"]
["LEPR","Obesity, morbid","Morbid obesity","Autosomal Recessive","Morbid obesity:Autosomal Recessive","Morbid obesity:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3953[geneid]~-~601007~-","LEPR"]
["LEPRE1","Osteogenesis imperfecta, Autosomal Recessive","Osteogenesis imperfecta, type VIII","Autosomal Recessive","Osteogenesis imperfecta, type VIII:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64175[geneid]~-~610339~-","LEPRE1"]
["LEPRE1","Osteogenesis imperfecta, non-lethal","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta, type VIII:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64175[geneid]~-~610339~-","LEPRE1"]
["LEPREL1","High myopia","Severe myopia","Autosomal Recessive","Severe myopia:Autosomal Recessive","Severe myopia:Autosomal Recessive","HIGH","-~-~610341~-","LEPREL1"]
["LFNG","Spondylocostal dysostosis","Jarcho-Levin syndrome","Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","Jarcho-Levin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3955[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK8828~602576~-","LFNG"]
["LGALS9B","Retinitis pigmentosa","Retinitis pigmentosa","Risk",null,null,null,"-~-~-~-","LGALS9B"]
["LGI1","Epilepsy, focal idiopathic","Localization-related(focal)(partial)idiopathic epilepsy and epileptic syndromes with seizures of localized onset","Autosomal Dominant","Temporal epilepsy, familial:Autosomal Dominant$Temporal lobe epilepsy:Autosomal Dominant","Temporal lobe epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9211[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1537~604619~-","LGI1"]
["LGI1","Epilepsy, lateral temporal lobe, Autosomal Dominant","Epilepsy, Lateral Temporal Lobe, Autosomal Dominant","Autosomal Dominant","Temporal epilepsy, familial:Autosomal Dominant$Temporal lobe epilepsy:Autosomal Dominant","Temporal lobe epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9211[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1537~604619~-","LGI1"]
["LGI1","Epilepsy, lateral temporal lobe, with migraine-like episodes","Epilepsy, Lateral Temporal Lobe, Autosomal Dominant","Autosomal Dominant","Temporal epilepsy, familial:Autosomal Dominant$Temporal lobe epilepsy:Autosomal Dominant","Temporal lobe epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9211[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1537~604619~-","LGI1"]
["LGI1","Epilepsy, partial, with auditory features","Autosomal Dominant partial epilepsy with auditory features","Autosomal Dominant","Temporal epilepsy, familial:Autosomal Dominant$Temporal lobe epilepsy:Autosomal Dominant","Temporal lobe epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9211[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1537~604619~-","LGI1"]
["LGI1","Epilepsy, partial, with telephone-induced seizures","Localization-related epilepsy","Autosomal Dominant","Temporal epilepsy, familial:Autosomal Dominant$Temporal lobe epilepsy:Autosomal Dominant","Temporal lobe epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9211[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1537~604619~-","LGI1"]
["LHB","Hypogonadism","Hypogonadism","Autosomal Recessive","Male pseudohermaphroditism due to defective LH molecule:Autosomal Dominant$Primary hypogonadism:Autosomal Dominant","Primary hypogonadism:Autosomal Dominant","HIGH","-~-~152780~-","LHB"]
["LHB","Low serum testosterone & absence of virilization","Serum testosterone level abnormal;Virilization, absence of","Autosomal Recessive","Male pseudohermaphroditism due to defective LH molecule:Autosomal Dominant$Primary hypogonadism:Autosomal Dominant","Primary hypogonadism:Autosomal Dominant","HIGH","-~-~152780~-","LHB"]
["LHB","Luteinizing hormone variant","NULL","Autosomal dominant (No disease association PMID 11870227)","NULL","NULL","HIGH","-~-~152780~-","LHB"]
["LHB","Luteinizing hormone variant","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~152780~-","LHB"]
["LHCGR","Amenorrhoea and recurrent pregnancy loss","Amenorrhea;Recurrent pregnancy loss","Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Empty follicle syndrome","Empty follicle syndrome","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Gonadotrophin resistance","Primary hypogonadism","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Hypogonadism, male","Male hypogonadism","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Increased receptor sensitivity","Malignant tumor of breast","Risk","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Leydig cell hypoplasia","Leydig cell agenesis","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Leydig cell hypoplasia & male pseudohermaphroditism","Leydig cell agenesis;Male pseudohermaphroditism","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Leydig cell hypoplasia II","Leydig Cell Hypoplasia, Type II","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Luteinizing hormone resistance","Leydig Cell Hypoplasia, Type II","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Male precocious puberty","Gonadotropin-independent familial sexual precocity","Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Primary amenorrhea","Primary physiologic amenorrhea","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Pseudohermaphroditism","Pseudohermaphroditism","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHCGR","Pseudohermaphroditism, male, incomplete","Male pseudohermaphroditism","Autosomal Recessive","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant$Familial testotoxicosis:Autosomal Dominant","Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty:Autosomal Recessive$Leydig Cell Hypoplasia, Type I:Autosomal Recessive$Leydig cell agenesis:Autosomal Recessive$Leydig Cell Hypoplasia, Type II:Autosomal Recessive$Gonadotropin-independent familial sexual precocity:Autosomal Dominant","HIGH","-~-~152790~-","LHCGR"]
["LHFPL5","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 67:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=222662[geneid]~-~609427~-","LHFPL5"]
["LHFPL5","Nonsyndromic hearing loss, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 67:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=222662[geneid]~-~609427~-","LHFPL5"]
["LHX1","Mayer-Rokitansky-Kuster-Hauser syndrome","Rokitansky sequence","Autosomal Dominant",null,null,"HIGH","-~-~601999~-","LHX1"]
["LHX3","Hypopituitarism and sensorineural hearing loss","Hypopituitarism;Sensorineural hearing loss","Autosomal Recessive","Pituitary Hormone Deficiency, Combined, 3:Autosomal Recessive$Winkelman Bethge Pfeiffer syndrome:Autosomal Recessive","Winkelman Bethge Pfeiffer syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8022[geneid]~-~600577~-","LHX3"]
["LHX3","Pituitary hormone deficiency, combined","Pituitary Hormone Deficiency, Combined, 3","Autosomal Recessive","Pituitary Hormone Deficiency, Combined, 3:Autosomal Recessive$Winkelman Bethge Pfeiffer syndrome:Autosomal Recessive","Winkelman Bethge Pfeiffer syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8022[geneid]~-~600577~-","LHX3"]
["LHX4","Hypopituitarism","Hypopituitarism","Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=89884[geneid]~-~602146~-","LHX4"]
["LHX4","Pituitary hormone deficiency","Pituitary Hormone Deficiency, Combined, 1","Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=89884[geneid]~-~602146~-","LHX4"]
["LHX4","Pituitary hormone deficiency, combined","Pituitary Hormone Deficiency, Combined, 4","Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=89884[geneid]~-~602146~-","LHX4"]
["LHX4","Pituitary hormone deficiency, severe combined","Pituitary Hormone Deficiency, Combined, 4","Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=89884[geneid]~-~602146~-","LHX4"]
["LHX4","Short stature","Short stature disorder","Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","Pituitary Hormone Deficiency, Combined, 4:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=89884[geneid]~-~602146~-","LHX4"]
["LHX8","Cleft lip","Cleft lip","Risk",null,null,"HIGH","-~-~604425~-","LHX8"]
["LIAS","Neonatal-onset epilepsy, muscular hypotonia, lactic acidosis & glycine elevation","Pyruvate dehydrogenase lipoic acid synthetase deficiency","Autosomal Recessive","Pyruvate dehydrogenase lipoic acid synthetase deficiency:Autosomal Recessive","Pyruvate dehydrogenase lipoic acid synthetase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11019[geneid]~-~607031~-","LIAS"]
["LIF","Female infertility","Female infertility","Autosomal Dominant",null,null,"HIGH","-~-~159540~-","LIF"]
["LIFR","Stuve-Wiedemann syndrome","Stuve-Wiedemann syndrome","Autosomal Recessive","Stuve-Wiedemann syndrome:Autosomal Recessive","Stuve-Wiedemann syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3977[geneid]~-~151443~-","LIFR"]
["LIG1","Immunodeficiency","Immunodeficiency disorder","Autosomal Recessive","DNA ligase I deficiency:Autosomal Recessive","DNA ligase I deficiency:Autosomal Recessive","HIGH","-~-~126391~-","LIG1"]
["LIG3","Altered level of single strand breaks","NULL","No disease association PMID 17145065","NULL","NULL","HIGH","-~-~600940~-","LIG3"]
["LIG3","Altered level of single strand breaks","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~600940~-","LIG3"]
["LIG4","Dubowitz syndrome","Dubowitz's syndrome","Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3981[geneid]~-~601837~-","LIG4"]
["LIG4","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3981[geneid]~-~601837~-","LIG4"]
["LIG4","Immunodeficiency, severe combined, atypical","Severe combined immunodeficiency, atypical","Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3981[geneid]~-~601837~-","LIG4"]
["LIG4","LIG4 syndrome","LIG4 Syndrome","Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","LIG4 Syndrome:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive$Severe combined immunodeficiency with sensitivity to ionizing radiation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3981[geneid]~-~601837~-","LIG4"]
["LILRA3","Leukocyte Ig-like receptor 3 deficiency","NULL","No disease association PMID 16501917","NULL","NULL","HIGH","-~-~604818~-","LILRA3"]
["LILRA3","Leukocyte Ig-like receptor 3 deficiency","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~604818~-","LILRA3"]
["LIM2","Cataract","Congenital cortical cataract","Autosomal Recessive","Cataract:Autosomal Recessive","Cataract:Autosomal Recessive","HIGH","-~-~154045~-","LIM2"]
["LINS","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~-~-","LINS1"]
["LIPA","Cholesterol ester storage disease","Cholesterol ester storage disease","Autosomal Recessive","Cholesterol ester storage disease:Autosomal Recessive$Cholesteryl Ester Storage Disease:Autosomal Recessive$Wolman's disease:Autosomal Recessive","Cholesterol ester storage disease:Autosomal Recessive$Wolman's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3988[geneid]~-~613497~-","LIPA"]
["LIPA","Wolman syndrome","Wolman's disease","Autosomal Recessive","Cholesterol ester storage disease:Autosomal Recessive$Cholesteryl Ester Storage Disease:Autosomal Recessive$Wolman's disease:Autosomal Recessive","Cholesterol ester storage disease:Autosomal Recessive$Wolman's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3988[geneid]~-~613497~-","LIPA"]
["LIPA","Wolman syndrome / cholesterol ester storage disease","Wolman's disease;Cholesterol ester storage disease","Autosomal Recessive","Cholesterol ester storage disease:Autosomal Recessive$Cholesteryl Ester Storage Disease:Autosomal Recessive$Wolman's disease:Autosomal Recessive","Cholesterol ester storage disease:Autosomal Recessive$Wolman's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3988[geneid]~-~613497~-","LIPA"]
["LIPC","Adiposity, severe","Obesity","Autosomal Dominant","Hepatic lipase deficiency:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier","Hepatic lipase deficiency:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~151670~-","LIPC"]
["LIPC","Hepatic lipase deficiency","Hepatic lipase deficiency","Autosomal Recessive","Hepatic lipase deficiency:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier","Hepatic lipase deficiency:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~151670~-","LIPC"]
["LIPC","Hyperalphalipoproteinaemia","Hyperalphalipoproteinemia","Autosomal Dominant","Hepatic lipase deficiency:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier","Hepatic lipase deficiency:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier","HIGH","-~-~151670~-","LIPC"]
["LIPC","Hyperlipidaemia","NULL","Research report only, no mention of gene PMID 15256764","NULL","NULL","HIGH","-~-~151670~-","LIPC"]
["LIPG","Higher plasma HDL cholesterol","Arteriosclerotic vascular disease","Decreased Risk","Arteriosclerotic vascular disease:Decreased Risk","Arteriosclerotic vascular disease:Decreased Risk","HIGH","-~-~603684~-","LIPG"]
["LIPH","Hair growth deficiency","Hypotrichosis, Localized, Autosomal Recessive 1","Autosomal Recessive","Hypotrichosis, Localized, Autosomal Recessive, 2:Autosomal Recessive$Total Hypotrichosis, Mari type:Autosomal Recessive$Wooly hair:Autosomal Recessive","Total Hypotrichosis, Mari type:Autosomal Recessive$Wooly hair:Autosomal Recessive","HIGH","-~-~607365~-","LIPH"]
["LIPH","Hypotrichosis","Hypotrichosis, Localized, Autosomal Recessive 1","Autosomal Recessive","Hypotrichosis, Localized, Autosomal Recessive, 2:Autosomal Recessive$Total Hypotrichosis, Mari type:Autosomal Recessive$Wooly hair:Autosomal Recessive","Total Hypotrichosis, Mari type:Autosomal Recessive$Wooly hair:Autosomal Recessive","HIGH","-~-~607365~-","LIPH"]
["LIPH","Hypotrichosis / woolly hair","Hypotrichosis, Localized, Autosomal Recessive 1;Woolly hair, Autosomal Recessive 2 with or without hypotrichosis","Autosomal Recessive","Hypotrichosis, Localized, Autosomal Recessive, 2:Autosomal Recessive$Total Hypotrichosis, Mari type:Autosomal Recessive$Wooly hair:Autosomal Recessive","Total Hypotrichosis, Mari type:Autosomal Recessive$Wooly hair:Autosomal Recessive","HIGH","-~-~607365~-","LIPH"]
["LIPI","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant","Hypertriglyceridemia:Autosomal Dominant","Hypertriglyceridemia:Autosomal Dominant","HIGH","-~-~609252~-","LIPI"]
["LIPI","Plasma HDL cholesterol","Hypertriglyceridemia","Autosomal Dominant","Hypertriglyceridemia:Autosomal Dominant","Hypertriglyceridemia:Autosomal Dominant","HIGH","-~-~609252~-","LIPI"]
["LIPN","Ichthyosis, congenital, Autosomal Recessive, late-onset","Congenital ichthyosis of skin","Autosomal Recessive","Congenital ichthyosis of skin:Autosomal Recessive","Congenital ichthyosis of skin:Autosomal Recessive","HIGH","-~-~613924~-","LIPN"]
["LITAF","Charcot-Marie-Tooth disease 1c","Charcot-Marie-Tooth disease, type IC","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, type IC:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1205~603795~-","LITAF"]
["LLGL1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600966~-","LLGL1"]
["LMAN1","Factor V and factor VIII deficiency, combined","Familial Multiple Coagulation Factor Deficiency I","Autosomal Recessive","Familial Multiple Coagulation Factor Deficiency I:Autosomal Recessive$Combined factor V and VIII deficiency:Autosomal Recessive","Familial Multiple Coagulation Factor Deficiency I:Autosomal Recessive$Combined factor V and VIII deficiency:Autosomal Recessive","HIGH","-~-~601567~-","LMAN1"]
["LMBRD1","Methylmalonic aciduria & homocystinuria, cblF type","Methylmalonic Aciduria and Homocystinuria, CblF Type","Autosomal Recessive","Methylmalonic Aciduria and Homocystinuria, CblF Type:Autosomal Recessive","Methylmalonic Aciduria and Homocystinuria, CblF Type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55788[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~612625~-","LMBRD1"]
["LMF1","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Recessive","Lipase deficiency combined:Autosomal Recessive","Lipase deficiency combined:Autosomal Recessive","HIGH","-~-~611761~-","LMF1"]
["LMF1","Hypertriglyceridemia & lipase deficiency","Hypertriglyceridemia;Lipase deficiency combined","Autosomal Recessive","Lipase deficiency combined:Autosomal Recessive","Lipase deficiency combined:Autosomal Recessive","HIGH","-~-~611761~-","LMF1"]
["LMNA","Apical left ventricular aneurysm","Left ventricular aneurysm","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Arrhythmogenic right ventricular cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Atherosclerosis, diabetes mellitus & steatosis hepatis","Atherosclerosis;Diabetes mellitus;Steatohepatitis","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiac abnormalities with/without skeletal muscle compromise","Cardiomyopathy, Familial, with Conduction Disturbance","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiac conduction defects","Conduction disorder of the heart","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiac conduction system disease","Conduction disorder of the heart","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiac disease","Heart disease","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiocutaneous progeria with Werner syndrome features","Progeria syndrome, atypical","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiomyopathy with advanced AV block","Cardiomyopathy, Familial, with Conduction Disturbance","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiomyopathy, dilated","Primary idiopathic dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiomyopathy, dilated & cardiac conduction disease","Primary idiopathic dilated cardiomyopathy;Conduction disorder of the heart","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiomyopathy, dilated with partial atrial standstill","Primary idiopathic dilated cardiomyopathy;Atrial Standstill","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Cardiomyopathy, dilated, with conduction defect, type 1A","Primary idiopathic dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, dominant intermediate 2","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Fibre type disproportion, congenital","Congenital myopathy with fiber type disproportion","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Heart-hand syndrome","Holt-Oram syndrome","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Hutchinson-Gilford progeria syndrome","Hutchinson-Gilford syndrome","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Hutchinson-Gilford progeria syndrome/mandibuloacral dysplasia","Hutchinson-Gilford syndrome;Mandibuloacral dysostosis","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Inflammatory myopathy","Inflammatory disorder of muscle","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Lethal tight skin contracture syndrome","Lethal tight skin contracture syndrome","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Lipodystrophy and insulin-resistance","Lipodystrophy;Insulin resistance in diabetes","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Lipodystrophy and/or insulin-resistance","Lipodystrophy;Insulin resistance in diabetes","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Mandibuloacral dysplasia","Mandibuloacral dysostosis","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Mandibuloacral dysplasia & progeria syndrome","Mandibuloacral dysostosis;Progeria","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Metabolic disease","Metabolic disease","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Metabolic laminopathy","Metabolic disease","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscle atrophy","Muscle atrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy","Muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy & peripheral neuropathy","Muscular dystrophy;Peripheral nerve disease","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy, Emery-Dreifuss","Emery-Dreifuss muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy, Emery-Dreifuss, neurogenic","Emery-Dreifuss muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy, lamin A/C-related","Muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy, limb girdle 1B / Isolated neck rigidity","Limb-girdle muscular dystrophy, type 1B","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Muscular dystrophy, LMNA-related","Muscular Dystrophy, Congenital, LMNA-Related","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Myopathy, early-onset and progeria","Disorder of skeletal AND/OR smooth muscle;Hutchinson-Gilford syndrome","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Myopathy, infantile inflammatory","Inflammatory disorder of muscle","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Partial lipodystrophy, atypical","Familial partial lipodystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Partial lipodystrophy, Dunnigan","Lipodystrophy, Familial Partial, Dunnigan Type","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Partial lipodystrophy, type 2","Lipodystrophy, Familial Partial, Dunnigan Type","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Progeroid syndrome, atypical","Progeria","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Seip syndrome","Congenital total lipodystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Spinal muscular atrophy","Spinal muscular atrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Ventricular arrhythmia","Ventricular arrhythmia","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Ventricular tachycardia","Ventricular tachycardia","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Werner syndrome with ischemic disease","Werner syndrome;Ischemic heart disease","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNA","Werner syndrome, atypical","Werner syndrome","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy 1A:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B1:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:Autosomal Recessive$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Familial Partial Lipodystrophy, Type 2:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Mandibuloacral dysplasia with type A lipodystrophy:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy, type 1B:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Primary idiopathic dilated cardiomyopathy:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Benign scapuloperoneal muscular dystrophy with cardiomyopathy:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Dominant:Autosomal Dominant$Emery Dreifuss Muscular Dystrophy, Autosomal Recessive:Autosomal Recessive$Heart-hand syndrome, Slovenian type:Autosomal Dominant$Hutchinson-Gilford syndrome:Autosomal Dominant$Progeria syndrome:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant$Malouf syndrome:Autosomal Dominant$Mandibuloacral dysostosis:Autosomal Dominant$Muscular dystrophy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Lethal tight skin contracture syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4000[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1436$http://www.ncbi.nlm.nih.gov/books/NBK1674$http://www.ncbi.nlm.nih.gov/books/NBK1121$http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1309~150330~-","LMNA"]
["LMNB2","Lipodystrophy, partial, acquired","Acquired partial lipodystrophy","Autosomal Dominant","Acquired partial lipodystrophy:Risk","Acquired partial lipodystrophy:Risk","HIGH","-~-~150341~-","LMNB2"]
["LMTK3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114783[geneid]~-~-~-","LMTK3"]
["LMX1B","Nail patella syndrome","Nail-patella syndrome","Autosomal Dominant","Nail-patella syndrome:Autosomal Dominant","Nail-patella syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1132~602575~-","LMX1B"]
["LOR","Erythrokeratoderma, progressive symmetric","Erythrokeratoderma","Autosomal Dominant","Vohwinkel Syndrome with Ichthyosis:Autosomal Dominant$Vohwinkel Syndrome, Variant Form:Autosomal Dominant","Vohwinkel Syndrome with Ichthyosis:Autosomal Dominant$Vohwinkel Syndrome, Variant Form:Autosomal Dominant","HIGH","-~-~152445~-","LOR"]
["LOR","Loricrin keratoderma","Vohwinkel Syndrome, Variant Form","Autosomal Dominant","Vohwinkel Syndrome with Ichthyosis:Autosomal Dominant$Vohwinkel Syndrome, Variant Form:Autosomal Dominant","Vohwinkel Syndrome with Ichthyosis:Autosomal Dominant$Vohwinkel Syndrome, Variant Form:Autosomal Dominant","HIGH","-~-~152445~-","LOR"]
["LOR","Vohwinkel syndrome","Mutilating keratoderma","Autosomal Dominant","Vohwinkel Syndrome with Ichthyosis:Autosomal Dominant$Vohwinkel Syndrome, Variant Form:Autosomal Dominant","Vohwinkel Syndrome with Ichthyosis:Autosomal Dominant$Vohwinkel Syndrome, Variant Form:Autosomal Dominant","HIGH","-~-~152445~-","LOR"]
["LOXHD1","Fuchs corneal dystrophy, late-onset","Fuchs' corneal dystrophy","Autosomal Dominant","Deafness, Autosomal Recessive 77:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=125336[geneid]~-~613072~-","LOXHD1"]
["LOXHD1","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 77:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=125336[geneid]~-~613072~-","LOXHD1"]
["LOXHD1","Progressive hearing loss, nonsyndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 77:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=125336[geneid]~-~613072~-","LOXHD1"]
["LPA","Autism spectrum disorder","Autistic Disorder","Risk","Lp(A) Deficiency, Congenital:Autosomal Dominant","Lp(A) Deficiency, Congenital:Autosomal Dominant","HIGH","-~-~152200~-","LPA"]
["LPA","Increased plasma apo","Atherosclerosis","Risk","Lp(A) Deficiency, Congenital:Autosomal Dominant","Lp(A) Deficiency, Congenital:Autosomal Dominant","HIGH","-~-~152200~-","LPA"]
["LPA","Lower plasma apo","Atherosclerosis","Decreased Risk","Lp(A) Deficiency, Congenital:Autosomal Dominant","Lp(A) Deficiency, Congenital:Autosomal Dominant","HIGH","-~-~152200~-","LPA"]
["LPA","Lp","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~152200~-","LPA"]
["LPA","Lp(a) deficiency","Lp(A) Deficiency, Congenital","Autosomal Dominant","Lp(A) Deficiency, Congenital:Autosomal Dominant","Lp(A) Deficiency, Congenital:Autosomal Dominant","HIGH","-~-~152200~-","LPA"]
["LPIN1","Autism spectrum disorder","Autistic Disorder","Risk","Myoglobinuria, Acute Recurrent, Autosomal Recessive:Autosomal Recessive$Myoglobinuria, Recurrent:Autosomal Recessive","Myoglobinuria, Recurrent:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23175[geneid]~-~605518~-","LPIN1"]
["LPIN1","Myoglobinuria, recurrent","Myoglobinuria, Acute Recurrent, Autosomal Recessive","Autosomal Recessive","Myoglobinuria, Acute Recurrent, Autosomal Recessive:Autosomal Recessive$Myoglobinuria, Recurrent:Autosomal Recessive","Myoglobinuria, Recurrent:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23175[geneid]~-~605518~-","LPIN1"]
["LPIN1","Rhabdomyolysis","Rhabdomyolysis","Autosomal Recessive","Myoglobinuria, Acute Recurrent, Autosomal Recessive:Autosomal Recessive$Myoglobinuria, Recurrent:Autosomal Recessive","Myoglobinuria, Recurrent:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23175[geneid]~-~605518~-","LPIN1"]
["LPIN2","Majeed syndrome","Majeed syndrome","Autosomal Recessive","Majeed syndrome:Autosomal Recessive","Majeed syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1974~605519~-","LPIN2"]
["LPIN2","Psoriasis","Psoriasis","Autosomal Recessive","Majeed syndrome:Autosomal Recessive","Majeed syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1974~605519~-","LPIN2"]
["LPIN3","Rhabdomyolysis","Rhabdomyolysis","Autosomal Recessive",null,null,"HIGH","-~-~605520~-","LPIN3"]
["LPL","Chylomicronaemia","Chylomicronemia syndrome","Autosomal Recessive","Familial combined hyperlipidemia:Autosomal Dominant$Hyperlipoproteinemia, type I:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1308~609708~-","LPL"]
["LPL","Hyperlipidaemia","Familial combined hyperlipidemia","Autosomal Recessive","Familial combined hyperlipidemia:Autosomal Dominant$Hyperlipoproteinemia, type I:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1308~609708~-","LPL"]
["LPL","Hypertriglyceridaemia","Hypertriglyceridemia","Autosomal Dominant","Familial combined hyperlipidemia:Autosomal Dominant$Hyperlipoproteinemia, type I:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1308~609708~-","LPL"]
["LPL","Lipoprotein lipase deficiency","Familial lipoprotein lipase deficiency","Autosomal Recessive","Familial combined hyperlipidemia:Autosomal Dominant$Hyperlipoproteinemia, type I:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1308~609708~-","LPL"]
["LPL","Lipoprotein lipase deficiency, partial","Familial lipoprotein lipase deficiency","Autosomal Recessive","Familial combined hyperlipidemia:Autosomal Dominant$Hyperlipoproteinemia, type I:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1308~609708~-","LPL"]
["LPL","Lower plasma triglyceride level","Familial combined hyperlipidemia","Autosomal Recessive","Familial combined hyperlipidemia:Autosomal Dominant$Hyperlipoproteinemia, type I:Autosomal Recessive$High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","High density lipoprotein cholesterol level:Modifier$Primary combined hyperlipidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1308~609708~-","LPL"]
["LRAT","Leber congenital amaurosis","Leber Congenital Amaurosis 14","Autosomal Recessive","Leber Congenital Amaurosis 14:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9227[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~604863~-","LRAT"]
["LRAT","Retinal dystrophy, early-onset","Retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 14:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9227[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~604863~-","LRAT"]
["LRAT","Retinal dystrophy, early-onset severe","Retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 14:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9227[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~604863~-","LRAT"]
["LRAT","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Leber Congenital Amaurosis 14:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9227[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~604863~-","LRAT"]
["LRAT","Retinitis punctata albescens","Retinitis punctata albescens","Autosomal Recessive","Leber Congenital Amaurosis 14:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9227[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~604863~-","LRAT"]
["LRAT","Usher syndrome","Retinitis pigmentosa-deafness syndrome","Autosomal Recessive","Leber Congenital Amaurosis 14:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinal dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9227[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~604863~-","LRAT"]
["LRBA","Hypogammaglobulinaemia, early-onset with autoimmunity & inflammatory bowel disease","Hypogammaglobulinemia;Autoimmunity;Inflammatory bowel disease","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~-~606453~-","LRBA"]
["LRBA","Immunodeficiency, common variable","Common variable agammaglobulinemia","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~-~606453~-","LRBA"]
["LRGUK","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","LRGUK"]
["LRIG2","Bladder disease, non-syndromic","Disorder of urinary bladder","Autosomal Recessive","Ochoa syndrome:Autosomal Recessive","Ochoa syndrome:Autosomal Recessive","HIGH","-~-~608869~-","LRIG2"]
["LRIG2","Urofacial syndrome","Ochoa syndrome","Autosomal Recessive","Ochoa syndrome:Autosomal Recessive","Ochoa syndrome:Autosomal Recessive","HIGH","-~-~608869~-","LRIG2"]
["LRIT3","Stationary night blindness, complete congenital","Congenital stationary night blindness","Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~615004~-","LRIT3"]
["LRP1","Abdominal aortic aneurysm, increased risk","Abdominal aortic aneurysm","Risk","Aortic aneurysm:Risk","Aortic aneurysm:Risk","HIGH","-~-~107770~-","LRP1"]
["LRP1","Autism","Autistic Disorder","Risk","Aortic aneurysm:Risk","Aortic aneurysm:Risk","HIGH","-~-~107770~-","LRP1"]
["LRP1","Increased expression","Myocardial infarction","Risk","Aortic aneurysm:Risk","Aortic aneurysm:Risk","HIGH","-~-~107770~-","LRP1"]
["LRP1","Intellectual disability","Intellectual Disability","Risk","Aortic aneurysm:Risk","Aortic aneurysm:Risk","HIGH","-~-~107770~-","LRP1"]
["LRP2","Autism","Autistic Disorder","Risk","Donnai-Barrow syndrome:Autosomal Recessive","Donnai-Barrow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1878~600073~-","LRP2"]
["LRP2","Congenital heart disease","Congenital heart disease","Risk","Donnai-Barrow syndrome:Autosomal Recessive","Donnai-Barrow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1878~600073~-","LRP2"]
["LRP2","Donnai-Barrow syndrome","Donnai-Barrow syndrome","Autosomal Recessive","Donnai-Barrow syndrome:Autosomal Recessive","Donnai-Barrow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1878~600073~-","LRP2"]
["LRP2","Facio-oculo-acoustico-renal syndrome","Donnai-Barrow syndrome","Autosomal Recessive","Donnai-Barrow syndrome:Autosomal Recessive","Donnai-Barrow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1878~600073~-","LRP2"]
["LRP2","Intellectual disability","Intellectual Disability","Risk","Donnai-Barrow syndrome:Autosomal Recessive","Donnai-Barrow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1878~600073~-","LRP2"]
["LRP4","Bone overgrowth","Sclerosteosis 2","Autosomal Recessive","Syndactyly Cenani Lenz type:Autosomal Recessive$Sclerosteosis:Autosomal Recessive","Syndactyly Cenani Lenz type:Autosomal Recessive$Sclerosteosis:Autosomal Recessive","HIGH","-~-~604270~-","LRP4"]
["LRP4","Cenani-Lenz syndrome","Syndactyly Cenani Lenz type","Autosomal Recessive","Syndactyly Cenani Lenz type:Autosomal Recessive$Sclerosteosis:Autosomal Recessive","Syndactyly Cenani Lenz type:Autosomal Recessive$Sclerosteosis:Autosomal Recessive","HIGH","-~-~604270~-","LRP4"]
["LRP4","Sclerosteosis 2","Sclerosteosis 2","Autosomal Recessive","Syndactyly Cenani Lenz type:Autosomal Recessive$Sclerosteosis:Autosomal Recessive","Syndactyly Cenani Lenz type:Autosomal Recessive$Sclerosteosis:Autosomal Recessive","HIGH","-~-~604270~-","LRP4"]
["LRP5","Endosteal hyperostosis","Hyperphosphatasemia tarda","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Exudative vitreoretinopathy","Familial exudative vitreoretinopathy","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Exudative vitreoretinopathy","Familial exudative vitreoretinopathy","Autosomal Recessive","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","High bone mass trait","Osteoporosis","Risk","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Increased LRP5 signalling","NULL","No disease association PMID 16956801","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Osteopetrosis","Osteopetrosis","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Osteoporosis & hyperlipidaemia","Osteopetrosis;Hyperlipidemia","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Osteoporosis, primary","Osteoporosis","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Osteoporosis-pseudoglioma syndrome","Osteoporosis-pseudoglioma syndrome","Autosomal Recessive","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Osteosclerosis","Osteosclerosis;Van Buchem disease type 2","Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP5","Retinopathy of prematurity","Retinopathy of prematurity","Risk","Familial exudative vitreoretinopathy:Autosomal Dominant$Exudative Vitreoretinopathy 4:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Exudative Vitreoretinopathy 4:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteopetrosis Autosomal Dominant type 1:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Van Buchem disease type 2:Autosomal Dominant$Bone Density:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Dominant$Osteopetrosis:Autosomal Dominant$Osteoporosis-pseudoglioma syndrome:Autosomal Recessive$Osteosclerosis:Autosomal Dominant$Bone Density:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4041[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1147~603506~-","LRP5"]
["LRP6","Coronary artery disease, early","Coronary arteriosclerosis","Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","HIGH","-~-~603507~-","LRP6"]
["LRPAP1","Myopia, severe","Severe myopia","Autosomal Recessive","Myopia:Autosomal Recessive","Myopia:Autosomal Recessive","HIGH","-~-~104225~-","LRPAP1"]
["LRPPRC","Cytochrome c oxidase deficiency","Leigh syndrome , French Canadian type","Autosomal Recessive","Leigh syndrome , French Canadian type:Autosomal Recessive","Leigh syndrome , French Canadian type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10128[geneid]~-~607544~-","LRPPRC"]
["LRRC29","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","LRRC29"]
["LRRC4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610486~-","LRRC4"]
["LRRC41","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","LRRC41"]
["LRRC50","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 13:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123872[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~613190~-","DNAAF1"]
["LRRC6","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1122~614930~-","LRRC6"]
["LRRC69","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","LRRC69"]
["LRRK2","Dyslipidaemia","Dyslipidemia","Risk","Parkinson Disease 8:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=120892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1208$http://www.ncbi.nlm.nih.gov/books/NBK1223~609007~-","LRRK2"]
["LRRK2","Multiple sclerosis","Multiple sclerosis","Risk","Parkinson Disease 8:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=120892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1208$http://www.ncbi.nlm.nih.gov/books/NBK1223~609007~-","LRRK2"]
["LRRK2","Parkinson disease","Parkinson Disease 8","Autosomal Dominant","Parkinson Disease 8:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=120892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1208$http://www.ncbi.nlm.nih.gov/books/NBK1223~609007~-","LRRK2"]
["LRRK2","Rheumatoid arthritis","Rheumatoid arthritis","Risk","Parkinson Disease 8:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=120892[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1208$http://www.ncbi.nlm.nih.gov/books/NBK1223~609007~-","LRRK2"]
["LRSAM1","Charcot-Marie-Tooth disease, axonal","Charcot-Marie-Tooth disease, axonal, type 2P","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90678[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~610933~-","LRSAM1"]
["LRSAM1","Neuropathy, axonal","Axonal neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90678[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~610933~-","LRSAM1"]
["LRTOMT","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 63:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=220074[geneid]~-~612414~-","LRTOMT"]
["LRTOMT","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 63:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=220074[geneid]~-~612414~-","LRTOMT"]
["LRTOMT","Sensorineural hearing loss","Sensorineural hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 63:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=220074[geneid]~-~612414~-","LRTOMT"]
["LTA","LTA production, modulator","NULL","No disease association PMID 15052269","NULL","NULL","HIGH","-~-~153440~-","LTA"]
["LTBP1","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~150390~-","LTBP1"]
["LTBP1","Increased expression","Malignant tumor of ovary","Modifier",null,null,"HIGH","-~-~150390~-","LTBP1"]
["LTBP2","Glaucoma, primary congenital","Glaucoma 3, Primary Congenital, D","Autosomal Recessive","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LTBP2","Marfan syndrome","Marfan's syndrome","Not cause of disease PMID 22539340","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LTBP2","Marfan syndrome, atypical","Marfan's syndrome","Not cause of disease PMID 22539341","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LTBP2","Megalocornea & lens-related glaucoma","Megalocorneal;Glaucoma associated with lens disorder","Autosomal Recessive","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LTBP2","Megalocornea, spherophakia & secondary glaucoma","Megalocornea;Spherophakia;Secondary glaucoma","Autosomal Recessive","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LTBP2","Microspherophakia","Microspherophakia","Autosomal Recessive","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LTBP2","Weill-Marchesani syndrome","Weill-Marchesani syndrome","Autosomal Recessive","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LTBP3","Oligodontia","Tooth Agenesis, Selective, 6","Autosomal Recessive","Glaucoma 3, Primary Congenital, D:Autosomal Recessive$Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Tooth agenesis, selective, 6:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","Primary congenital glaucoma:Autosomal Recessive$Microspherophakia:Autosomal Recessive$Hypodontia:Autosomal Recessive$Weill-Marchesani syndrome:Autosomal Recessive","HIGH","-~-~602090~-","LTBP3"]
["LUC7L","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~607782~-","LUC7L"]
["LUM","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~600616~-","LUM"]
["LUZP4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300616~-","LUZP4"]
["LY6G6F","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611404~-","LY6G6F"]
["LY96","Decreased lipopolysaccharide-induced signaling","Sepsis due to Gram negative bacteria","Risk",null,null,"HIGH","-~-~605243~-","LY96"]
["LY96","Increased expression","Clinical sepsis","Risk",null,null,"HIGH","-~-~605243~-","LY96"]
["LYST","Chediak-Higashi syndrome","Ch?diak-Higashi syndrome","Autosomal Recessive","Chediak-Higashi syndrome:Autosomal Recessive","Chediak-Higashi syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK5188~606897~-","LYST"]
["LYZ","ALys amyloidosis, systemic","Systemic amyloidosis","Autosomal Dominant","Amyloid nephropathy:Autosomal Dominant","Amyloid nephropathy:Autosomal Dominant","HIGH","-~-~153450~-","LYZ"]
["LYZ","Amyloidosis, renal","Amyloid nephropathy","Autosomal Dominant","Amyloid nephropathy:Autosomal Dominant","Amyloid nephropathy:Autosomal Dominant","HIGH","-~-~153450~-","LYZ"]
["LYZ","Amyloidosis, systemic","Systemic amyloidosis","Autosomal Dominant","Amyloid nephropathy:Autosomal Dominant","Amyloid nephropathy:Autosomal Dominant","HIGH","-~-~153450~-","LYZ"]
["LZTFL1","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive","HIGH","-~-~606568~-","LZTFL1"]
["MACC1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612646~-","MACC1"]
["MACC1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612646~-","MACC1"]
["MADD","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603584~-","MADD"]
["MAF","Cataract","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~177075~-","MAF"]
["MAF","Cataract, ocular anterior dysgenesis and coloboma","Cataract;Anterior segment mesenchymal dysgenesis;Coloboma of eye","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~177075~-","MAF"]
["MAF","Cataract-microcornea syndrome","Cataract microcornea syndrome","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~177075~-","MAF"]
["MAF","Cerulean cataract","Congenital blue dot cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~177075~-","MAF"]
["MAFB","Multicentric carpotarsal osteolysis","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy","Autosomal Dominant","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy:Autosomal Dominant","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy:Autosomal Dominant","HIGH","-~-~608968~-","MAFB"]
["MAGEC3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300469~-","MAGEC3"]
["MAGT1","Immunodeficiency, X-linked","Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia","X-linked Recessive","Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia:X-linked recesive$Mental Retardation, X-Linked 95:X-linked dominant$Mental retardation:X-linked dominant","Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia:X-linked recesive$Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84061[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~300715~-","MAGT1"]
["MAGT1","Mental retardation","Mental Retardation, X-Linked 95","X-linked Dominant","Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia:X-linked recesive$Mental Retardation, X-Linked 95:X-linked dominant$Mental retardation:X-linked dominant","Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia:X-linked recesive$Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84061[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~300715~-","MAGT1"]
["MAK","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~154235~-","MAK"]
["MALT1","Immunodeficiency, combined","Combined immunodeficiency disease","Autosomal Recessive","Immunodeficiency disorder:Autosomal Recessive","Immunodeficiency disorder:Autosomal Recessive","HIGH","-~-~604860~-","MALT1"]
["MAMLD1","46,XY disorder of sex development","46, XY Disorders of Sex Development","X-linked Recessive","Hypospadias 2, X-Linked:X-linked recesive$Hypospadias:X-linked recesive","Hypospadias:X-linked recesive","HIGH","-~-~300120~-","MAMLD1"]
["MAMLD1","Hypospadias","Hypospadias 2, X-Linked","X-linked Recessive","Hypospadias 2, X-Linked:X-linked recesive$Hypospadias:X-linked recesive","Hypospadias:X-linked recesive","HIGH","-~-~300120~-","MAMLD1"]
["MAN1B1","Intellectual disability, nonsyndromic, Autosomal Recessive","Intellectual Disability;Mental Retardation","Autosomal Recessive","Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11253[geneid]~-~604346~-","MAN1B1"]
["MAN2B1","Mannosidosis, alpha","Mannosidosis","Autosomal Recessive","Deficiency of alpha-mannosidase:Autosomal Recessive$Alpha-Mannosidosis, Type I:Autosomal Recessive$alpha-Mannosidosis, Type II:Autosomal Recessive","Deficiency of alpha-mannosidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4125[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1396~609458~-","MAN2B1"]
["MANBA","Mannosidosis, beta, lysosomal","Beta-D-mannosidosis","Autosomal Recessive","beta-Mannosidosis:Autosomal Recessive$Beta-D-mannosidosis:Autosomal Recessive","Beta-D-mannosidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4126[geneid]~-~609489~-","MANBA"]
["MANSC1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54682[geneid]~-~-~-","MANSC1"]
["MAOA","Monoamine oxidase deficiency","Brunner Syndrome","X-linked Recessive","Brunner Syndrome:X-linked Recessive","Brunner Syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4128[geneid]~-~309850~-","MAOA"]
["MAP2K1","Cardio-facio-cutaneous syndrome","Cardio-facio-cutaneous syndrome","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5604[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~176872~-","MAP2K1"]
["MAP2K1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5604[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~176872~-","MAP2K1"]
["MAP2K1","Costello syndrome","Costello syndrome","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5604[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~176872~-","MAP2K1"]
["MAP2K1","Noonan syndrome","Noonan's syndrome","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5604[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1186~176872~-","MAP2K1"]
["MAP2K2","Cardio-facio-cutaneous syndrome","Cardio-facio-cutaneous syndrome","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5605[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1186~601263~-","MAP2K2"]
["MAP2K2","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","Cardio-facio-cutaneous syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5605[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1186~601263~-","MAP2K2"]
["MAP3K1","Disorders of sex development","46,XY sex reversal 6","Autosomal Dominant","46,XY sex reversal 6:Autosomal Dominant$46,XY Disorders of Sex Development:Autosomal Dominant","46,XY Disorders of Sex Development:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547~600982~-","MAP3K1"]
["MAP3K15","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300820~-","MAP3K15"]
["MAP3K7IP2","Congenital heart defects","Congenital heart disease","Autosomal Dominant","Congenital heart disease:Autosomal Dominant","Congenital heart disease:Autosomal Dominant","HIGH","-~-~605101~-","TAB2"]
["MAP4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~157132~-","MAP4"]
["MAPK8IP1","Diabetes, type 2","Diabetes mellitus type 2","Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant","Diabetes mellitus type 2:Autosomal Dominant","HIGH","-~-~604641~-","MAPK8IP1"]
["MAPKAP1","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~610558~-","MAPKAP1"]
["MAPT","Alzheimer disease","Alzheimer's disease","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Aphasia, progressive nonfluent","Primary Progressive Nonfluent Aphasia","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Argyrophilic grain disease","Argyrophilic brain disease","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Ataxia with cognitive impairment","Ataxia;Intellectual Disability","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Dementia with Lewy bodies","Diffuse Lewy body disease","Risk","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Frontotemporal dementia","Frontotemporal dementia","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Frontotemporal dementia, with parkinsonism","Dementia, Frontotemporal, with Parkinsonism","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Frontotemporal dementia/corticobasal degeneration","Frontotemporal dementia;Corticobasal degeneration","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration;Pick's disease","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Neurodegeneration","Nerve Degeneration","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Parkinson disease","Parkinson's disease","Risk","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Progressive supranuclear palsy, atypical","Progressive supranuclear ophthalmoplegia","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Respiratory failure","Tauopathy and Respiratory Failure","Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MAPT","Supranuclear palsy, progressive","Progressive supranuclear ophthalmoplegia","Autosomal Dominant","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive Supranuclear Palsy:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","Dementia, Frontotemporal, with Parkinsonism:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant$Progressive supranuclear ophthalmoplegia:Autosomal Dominant$Progressive supranuclear palsy atypical:Autosomal Dominant$Tauopathy and Respiratory Failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1505~157140~-","MAPT"]
["MARS","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, type II","Autosomal Dominant","Liver Failure:Autosomal Recessive","Liver Failure:Autosomal Recessive","HIGH","-~-~156560~-","MARS"]
["MARVELD2","Deafness","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 49:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=153562[geneid]~-~610572~-","MARVELD2"]
["MARVELD2","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 49:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=153562[geneid]~-~610572~-","MARVELD2"]
["MARVELD2","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 49:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=153562[geneid]~-~610572~-","MARVELD2"]
["MASP1","3MC syndrome","Oculopalatoskeletal syndrome","Autosomal Recessive","Oculopalatoskeletal syndrome:Autosomal Recessive","Oculopalatoskeletal syndrome:Autosomal Recessive","HIGH","-~-~600521~-","MASP1"]
["MASP1","Facial, umbilical, coccygeal & auditory anomalies","Congenital anomaly of face;Periumbilical depression;Hearing loss;Radioulnar synostosis","Autosomal Recessive","Oculopalatoskeletal syndrome:Autosomal Recessive","Oculopalatoskeletal syndrome:Autosomal Recessive","HIGH","-~-~600521~-","MASP1"]
["MASP2","MASP2 deficiency","MASP2 deficiency","Autosomal Recessive","MASP2 Deficiency:Autosomal Recessive","MASP2 Deficiency:Autosomal Recessive","HIGH","-~-~605102~-","MASP2"]
["MASP2","Reduced MASP2 levels","MASP2 deficiency","Autosomal Recessive","MASP2 Deficiency:Autosomal Recessive","MASP2 Deficiency:Autosomal Recessive","HIGH","-~-~605102~-","MASP2"]
["MASTL","Thrombocytopaenia","Thrombocytopenic disorder","Autosomal Dominant","Thrombocytopenic disorder:Autosomal Dominant$Thrombocytopenia chromosome breakage:Autosomal Dominant","Thrombocytopenic disorder:Autosomal Dominant$Thrombocytopenia chromosome breakage:Autosomal Dominant","HIGH","-~-~608221~-","MASTL"]
["MAT1A","Homocystinuria","Homocystinuria","Autosomal Recessive","Hypermethioninemia:Autosomal Dominant$Deficiency of methionine adenosyltransferase:Autosomal Recessive","Hypermethioninemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4143[geneid]~-~610550~-","MAT1A"]
["MAT1A","Hypermethioninemia","Hypermethioninemia","Autosomal Dominant","Hypermethioninemia:Autosomal Dominant$Deficiency of methionine adenosyltransferase:Autosomal Recessive","Hypermethioninemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4143[geneid]~-~610550~-","MAT1A"]
["MAT1A","Methionine adenosyltransferase deficiency","Deficiency of methionine adenosyltransferase","Autosomal Recessive","Hypermethioninemia:Autosomal Dominant$Deficiency of methionine adenosyltransferase:Autosomal Recessive","Hypermethioninemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4143[geneid]~-~610550~-","MAT1A"]
["MATN3","Multiple epiphyseal dysplasia","Epiphyseal dysplasia, multiple, 5","Autosomal Dominant","Epiphyseal dysplasia, multiple, 5:Autosomal Dominant$Multiple epiphyseal dysplasia:Autosomal Dominant$Autosomal Recessive spondyloepimetaphyseal dysplasia:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Autosomal Recessive spondyloepimetaphyseal dysplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123~602109~-","MATN3"]
["MATN3","Spondyloepiphyseal dysplasia","Autosomal Recessive spondyloepimetaphyseal dysplasia","Autosomal Recessive","Epiphyseal dysplasia, multiple, 5:Autosomal Dominant$Multiple epiphyseal dysplasia:Autosomal Dominant$Autosomal Recessive spondyloepimetaphyseal dysplasia:Autosomal Recessive","Multiple epiphyseal dysplasia:Autosomal Dominant$Autosomal Recessive spondyloepimetaphyseal dysplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1123~602109~-","MATN3"]
["MATR3","Vocal chord & pharyngeal weakness with distal myopathy","Myopathy, Distal 2","Autosomal Dominant","Myopathy, Distal 2:Autosomal Dominant","Myopathy, Distal 2:Autosomal Dominant","HIGH","-~-~164015~-","MATR3"]
["MAX","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Pheochromocytoma:Autosomal Dominant","Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4149[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~154950~-","MAX"]
["MAX","Phaeochromocytoma and paraganglioma","Pheochromocytoma;Paraganglioma","Autosomal Dominant","Pheochromocytoma:Autosomal Dominant","Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4149[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~154950~-","MAX"]
["MBD1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~156535~-","MBD1"]
["MBD3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603573~-","MBD3"]
["MBD4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603574~-","MBD4"]
["MBD5","Autism","Autistic Disorder","Risk","Mental retardation, Autosomal Dominant 1:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55777[geneid]~-~611472~-","MBD5"]
["MBD5","Kleefstra syndrome","Kleefstra Syndrome;Mental retardation","Autosomal Dominant","Mental retardation, Autosomal Dominant 1:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55777[geneid]~-~611472~-","MBD5"]
["MBD6","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","MBD6"]
["MBNL1","Myotonic dystrophy, type 1, modifier of","Myotonic Dystrophy","Modifier","Myotonic Dystrophy:Modifier","Myotonic Dystrophy:Modifier","HIGH","-~-~606516~-","MBNL1"]
["MBTPS2","Ichthyosis follicularis, alopecia & photophobia","Ichthyosis follicularis with alopecia and photophobia (IFAP)","X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis Follicularis Spinulosa Decalvans, X-Linked:X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51360[geneid]~-~300294~-","MBTPS2"]
["MBTPS2","Ichthyosis follicularis, atrichia & photophobia","Ichthyosis follicularis atrichia photophobia syndrome","X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis Follicularis Spinulosa Decalvans, X-Linked:X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51360[geneid]~-~300294~-","MBTPS2"]
["MBTPS2","Keratosis pilaris decalvans","Keratosis pilaris decalvans","X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis Follicularis Spinulosa Decalvans, X-Linked:X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51360[geneid]~-~300294~-","MBTPS2"]
["MBTPS2","Olmsted syndrome, X-linked","Olmsted syndrome","X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis Follicularis Spinulosa Decalvans, X-Linked:X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","Ichthyosis follicularis with alopecia and photophobia (IFAP):X-linked Recessive$Keratosis pilaris decalvans:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51360[geneid]~-~300294~-","MBTPS2"]
["MC1R","Basal cell carcinoma","Basal cell carcinoma","Risk","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","HIGH","-~-~155555~-","MC1R"]
["MC1R","Melanoma","Malignant melanoma","Risk","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","HIGH","-~-~155555~-","MC1R"]
["MC1R","Reduced cell surface expression","Malignant melanoma","Risk","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","HIGH","-~-~155555~-","MC1R"]
["MC1R","UV-induced skin damage, vulnerability to","UV-induced skin damage","Risk","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","Analgesia from kappa-opioid receptor agonist, female-specific:Modifier$Skin/hair/eye pigmentation, Variation In 2:Modifier","HIGH","-~-~155555~-","MC1R"]
["MC2R","ACTH hypersensitivity syndrome","Methylcrotonyl-CoA carboxylase deficiency","Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4158[geneid]~-~607397~-","MC2R"]
["MC2R","Adrenal hypoplasia, salt-losing","Congenital hypoplasia of adrenal gland","Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4158[geneid]~-~607397~-","MC2R"]
["MC2R","Cushing syndrome","Hypercortisolism","Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4158[geneid]~-~607397~-","MC2R"]
["MC2R","Glucocorticoid deficiency","Glucocorticoid deficiency","Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4158[geneid]~-~607397~-","MC2R"]
["MC3R","Obesity","Obesity","Autosomal Dominant","Obesity:Risk","Obesity:Risk","HIGH","-~-~155540~-","MC3R"]
["MC3R","Obesity, severe","Obesity","Autosomal Dominant","Obesity:Risk","Obesity:Risk","HIGH","-~-~155540~-","MC3R"]
["MC3R","Reduced cell surface and total expression","NULL","No disease association PMID 22884546","NULL","NULL","HIGH","-~-~155540~-","MC3R"]
["MC3R","Reduced cell surface and total expression, decreased maximal binding","NULL","No disease association PMID 22884546","NULL","NULL","HIGH","-~-~155540~-","MC3R"]
["MC3R","Reduced cell surface expression","NULL","No disease association PMID 22884546","NULL","NULL","HIGH","-~-~155540~-","MC3R"]
["MC3R","Reduced cell surface expression and defective ligand binding/signalling","NULL","No disease association PMID 22884546","NULL","NULL","HIGH","-~-~155540~-","MC3R"]
["MC3R","Reduced expression","NULL","No significant association with obesity PMID 19091795","NULL","NULL","HIGH","-~-~155540~-","MC3R"]
["MC4R","Melanocortin-4 receptor variant","Obesity","Autosomal Dominant","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4160[geneid]~-~155541~-","MC4R"]
["MC4R","Obesity","Obesity","Autosomal Dominant","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4160[geneid]~-~155541~-","MC4R"]
["MC4R","Obesity, Autosomal Dominant","Obesity","Autosomal Dominant","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4160[geneid]~-~155541~-","MC4R"]
["MC4R","Obesity, early onset","Obesity","Autosomal Dominant","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4160[geneid]~-~155541~-","MC4R"]
["MC4R","Obesity, severe","Obesity","Autosomal Dominant","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4160[geneid]~-~155541~-","MC4R"]
["MC4R","Reduced function","Diabetes mellitus type 2","Risk","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4160[geneid]~-~155541~-","MC4R"]
["MCCC1","3-methylcrotonyl-CoA carboxylase deficiency","Methylcrotonyl-CoA carboxylase deficiency","Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive$3-methylcrotonyl CoA carboxylase 1 deficiency:Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56922[geneid]~-~609010~-","MCCC1"]
["MCCC1","3-methylcrotonylglycinuria","Methylcrotonyl-CoA carboxylase deficiency","Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive$3-methylcrotonyl CoA carboxylase 1 deficiency:Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56922[geneid]~-~609010~-","MCCC1"]
["MCCC1","Elevated 3-hydroxyisovalerylcarnitine / 3-methylcrotonylglycine levels","Methylcrotonyl-CoA carboxylase deficiency","Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive$3-methylcrotonyl CoA carboxylase 1 deficiency:Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56922[geneid]~-~609010~-","MCCC1"]
["MCCC1","Methylcrotonylglycinuria","Methylcrotonyl-CoA carboxylase deficiency","Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive$3-methylcrotonyl CoA carboxylase 1 deficiency:Autosomal Recessive","Methylcrotonyl-CoA carboxylase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56922[geneid]~-~609010~-","MCCC1"]
["MCCC2","3-methylcrotonyl-CoA carboxylase deficiency","3-methylcrotonyl CoA carboxylase 2 deficiency","Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64087[geneid]~-~609014~-","MCCC2"]
["MCCC2","3-methylcrotonylglycinuria","3-methylcrotonyl CoA carboxylase 2 deficiency","Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64087[geneid]~-~609014~-","MCCC2"]
["MCCC2","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64087[geneid]~-~609014~-","MCCC2"]
["MCCC2","Elevated 3-hydroxyisovalerylcarnitine / 3-methylcrotonylglycine levels","3-methylcrotonyl CoA carboxylase 2 deficiency","Autosomal Dominant","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64087[geneid]~-~609014~-","MCCC2"]
["MCCC2","Methylcrotonylglycinuria","3-methylcrotonyl CoA carboxylase 2 deficiency","Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","3-Methylcrotonyl-CoA carboxylase 2 deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64087[geneid]~-~609014~-","MCCC2"]
["MCEE","Methylmalonic aciduria","Methylmalonic acidemia;Methylmalonyl-CoA Epimerase Deficiency","Autosomal Recessive","Methylmalonyl-CoA Epimerase Deficiency:Autosomal Recessive","Methylmalonyl-CoA Epimerase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84693[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1231~608419~-","MCEE"]
["MCF2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~311030~-","MCF2"]
["MCFD2","Factor V and Factor VIII deficiency, combined","Familial Multiple Coagulation Factor Deficiency I","Autosomal Recessive","Familial Multiple Coagulation Factor Deficiency I:Autosomal Recessive$Combined factor V and VIII deficiency:Autosomal Recessive","Familial Multiple Coagulation Factor Deficiency I:Autosomal Recessive","HIGH","-~-~607788~-","MCFD2"]
["MCHR1","Obesity","Obesity","Risk",null,null,"HIGH","-~-~601751~-","MCHR1"]
["MCM4","Adrenal failure, short stature & natural killer cell deficiency","Natural Killer Cell Deficiency, Familial Isolated;Glucocorticoid deficiency;Defect in DNA repair","Autosomal Recessive","Natural Killer Cell Deficiency, Familial Isolated:Autosomal Recessive","Natural Killer Cell Deficiency, Familial Isolated:Autosomal Recessive","HIGH","-~-~602638~-","MCM4"]
["MCM5","ARS121-specific minichromosome retention","NULL","No disease association PMID 19481678","NULL","NULL","HIGH","-~-~602696~-","MCM5"]
["MCM5","ARS121-specific minichromosome retention","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~602696~-","MCM5"]
["MCM9","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610098~-","MCM9"]
["MCOLN1","Mucolipidosis IV","Ganglioside sialidase deficiency","Autosomal Recessive","Mucolipidosis IV:Autosomal Recessive$Ganglioside sialidase deficiency:Autosomal Recessive","Ganglioside sialidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57192[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1214~605248~-","MCOLN1"]
["MCPH1","Craniosynostosis-microcephaly with chromosomal breakage","Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 1:Autosomal Recessive$Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79648[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~607117~-","MCPH1"]
["MCPH1","Premature chromosome condensation syndrome","Microcephaly, Primary Autosomal Recessive, 1","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 1:Autosomal Recessive$Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79648[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~607117~-","MCPH1"]
["MCPH1","Primary microcephaly","Microcephaly, Primary Autosomal Recessive, 1","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 1:Autosomal Recessive$Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79648[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~607117~-","MCPH1"]
["MDM2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~164785~-","MDM2"]
["MDN1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23195[geneid]~-~-~-","MDN1"]
["MDS025","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","CCDC90B"]
["MECP2","Angelman syndrome","Angelman syndrome","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Anorectal malformation","Anorectal anomaly","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Autism","Autistic Disorder","Risk","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Autism spectrum disorder","Autistic Disorder","Risk","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Encephalopathy, congenital severe","Encephalopathy, severe, neonatal","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Epileptic encephalopathy, early onset","Epileptic encephalopathy, early onset","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Infantile autism","Infantile autism","Risk","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Learning disability with progressive ataxia, spasticity and dystonia","Learning Disabilities;Ataxia, progressive;Spasticity;Dystonia","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Mental retardation","Mental retardation","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Mental retardation and progressive spasticity","Lubs X-linked mental retardation syndrome","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Mental retardation, X-linked","Mental Retardation, X-Linked, Syndromic 13","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Neonatal encephalopathy, severe","Encephalopathy, severe, neonatal","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Non-fatal, non-progressive encephalopathy","Encephalopathy, severe, neonatal","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Rett syndrome","Rett's disorder","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Rett syndrome, atypical","Rett's disorder","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Rett syndrome, preserved speech variant","Rett's disorder","X-linked Dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental Retardation, X-Linked, Syndromic 13:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant$Rett syndrome:X-linked dominant$Rett Syndrome, Preserved Speech Variant:X-linked dominant","Angelman syndrome:X-linked dominant$Encephalopathy, severe, neonatal:X-linked dominant$Lubs X-linked mental retardation syndrome:X-linked dominant$Mental retardation:X-linked dominant$Rett's disorder:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1497$http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MECP2","Schizophrenia","NULL","Need full text PMID 15211631","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1284~300005~-","MECP2"]
["MED12","FG syndrome 1","FG syndrome","X-linked Recessive","Lujan Fryns syndrome:X-linked dominant$X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Blepharophimosis syndrome Ohdo type:X-linked Recessive$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9968[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1676~300188~-","MED12"]
["MED12","Intellectual disability, nonsyndromic","Intellectual Disability","X-linked Recessive","Lujan Fryns syndrome:X-linked dominant$X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Blepharophimosis syndrome Ohdo type:X-linked Recessive$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9968[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1676~300188~-","MED12"]
["MED12","Lujan syndrome","X-linked mental retardation with marfanoid habitus syndrome","X-linked Recessive","Lujan Fryns syndrome:X-linked dominant$X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Blepharophimosis syndrome Ohdo type:X-linked Recessive$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9968[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1676~300188~-","MED12"]
["MED12","Mental retardation, X-linked","X-linked mental retardation with marfanoid habitus syndrome;Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth","X-linked Recessive","Lujan Fryns syndrome:X-linked dominant$X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Blepharophimosis syndrome Ohdo type:X-linked Recessive$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","X-linked mental retardation with marfanoid habitus syndrome:X-linked dominant$Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth:X-linked Recessive$FG syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9968[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1676~300188~-","MED12"]
["MED13L","Autism","Autistic Disorder","Risk","Transposition of the Great Arteries, Dextro-Looped 1:Autosomal Dominant","Transposition of the Great Arteries, Dextro-Looped 1:Autosomal Dominant","HIGH","-~-~608771~-","MED13L"]
["MED13L","Congenital heart defect","Congenital heart defect;Transposition of the Great Arteries, Dextro-Looped 1","Autosomal Dominant","Transposition of the Great Arteries, Dextro-Looped 1:Autosomal Dominant","Transposition of the Great Arteries, Dextro-Looped 1:Autosomal Dominant","HIGH","-~-~608771~-","MED13L"]
["MED13L","Intellectual disability, nonsyndromic, no cardiac involvement","Intellectual Disability","Risk","Transposition of the Great Arteries, Dextro-Looped 1:Autosomal Dominant","Transposition of the Great Arteries, Dextro-Looped 1:Autosomal Dominant","HIGH","-~-~608771~-","MED13L"]
["MED17","Cerebral & cerebellar atrophy","Microcephaly, postnatal progressive, with seizures and brain atrophy","Autosomal Recessive","Microcephaly, postnatal progressive, with seizures and brain atrophy:Autosomal Recessive","Microcephaly, postnatal progressive, with seizures and brain atrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9440[geneid]~-~603810~-","MED17"]
["MED20","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~612915~-","MED20"]
["MED23","Intellectual disability","Mental retardation, Autosomal Recessive 18","Autosomal Recessive","Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9439[geneid]~-~605042~-","MED23"]
["MED25","Charcot-Marie-Tooth disease, 2B2","Charcot-Marie-Tooth disease, Type 2B2","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 2B2:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81857[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~610197~-","MED25"]
["MEF2A","Coronary artery disease","Coronary arteriosclerosis","Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","HIGH","-~-~600660~-","MEF2A"]
["MEF2A","Coronary artery disease and myocardial infarction","Coronary arteriosclerosis;Myocardial infarction","Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","HIGH","-~-~600660~-","MEF2A"]
["MEF2A","MEF2A deficiency","Coronary arteriosclerosis","Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","HIGH","-~-~600660~-","MEF2A"]
["MEF2A","Myocardial infarction","Myocardial infarction","Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","Coronary arteriosclerosis:Autosomal Dominant","HIGH","-~-~600660~-","MEF2A"]
["MEF2C","Autism","Autistic Disorder","Risk","Chromosome 5q14.3 deletion syndrome:Autosomal Dominant$Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations:Autosomal Dominant","Chromosome 5q14.3 deletion syndrome:Autosomal Dominant$Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4208[geneid]~-~600662~-","MEF2C"]
["MEF2C","Mental retardation","Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations","Autosomal Dominant","Chromosome 5q14.3 deletion syndrome:Autosomal Dominant$Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations:Autosomal Dominant","Chromosome 5q14.3 deletion syndrome:Autosomal Dominant$Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4208[geneid]~-~600662~-","MEF2C"]
["MEF2C","Pulmonary atresia with ventricular septal defect","Pulmonary atresia with ventricular septal defect","Autosomal Dominant","Chromosome 5q14.3 deletion syndrome:Autosomal Dominant$Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations:Autosomal Dominant","Chromosome 5q14.3 deletion syndrome:Autosomal Dominant$Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4208[geneid]~-~600662~-","MEF2C"]
["MEFV","Autoinflammatory disease","Hereditary periodic fever","Autosomal Dominant","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4210[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1227~608107~-","MEFV"]
["MEFV","Mediterranean fever, familial","Familial Mediterranean fever","Autosomal Dominant","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4210[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1227~608107~-","MEFV"]
["MEFV","Mediterranean fever, familial","Familial Mediterranean fever","Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4210[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1227~608107~-","MEFV"]
["MEFV","PFAPA syndrome","Familial Mediterranean fever","Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4210[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1227~608107~-","MEFV"]
["MEFV","Recurrent fever","Familial Mediterranean fever","Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","Familial Mediterranean fever:Autosomal Dominant$Familial Mediterranean fever:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4210[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1227~608107~-","MEFV"]
["MEGF10","EMARDD","Myopathy, areflexia, respiratory distress, and dysphagia","Autosomal Recessive","Myopathy, areflexia, respiratory distress, and dysphagia:Autosomal Recessive","Myopathy, areflexia, respiratory distress, and dysphagia:Autosomal Recessive","HIGH","-~-~612453~-","MEGF10"]
["MEGF10","Myopathy, with minicores","Myopathy, areflexia, respiratory distress, and dysphagia","Autosomal Recessive","Myopathy, areflexia, respiratory distress, and dysphagia:Autosomal Recessive","Myopathy, areflexia, respiratory distress, and dysphagia:Autosomal Recessive","HIGH","-~-~612453~-","MEGF10"]
["MEGF11","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612454~-","MEGF11"]
["MEGF8","Carpenter syndrome","Polyglandular autoimmune syndrome, type 2","Autosomal Recessive","Carpenter syndrome:Autosomal Recessive$Polyglandular autoimmune syndrome, type 2:Autosomal Recessive","Carpenter syndrome:Autosomal Recessive$Polyglandular autoimmune syndrome, type 2:Autosomal Recessive","HIGH","-~-~604267~-","MEGF8"]
["MEIS1","Restless legs syndrome","Restless legs","Risk",null,null,"HIGH","-~-~601739~-","MEIS1"]
["MEN1","Adrenocortical tumour","Neoplasm of adrenal cortex","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Atypical endocrine neoplasia","Multiple endocrine neoplasia, type 1","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Hyperparathyroidism","Hyperparathyroidism","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Hyperparathyroidism and pancreatic neoplasia","Hyperparathyroidism;Pancreatic intraepithelial neoplasia","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Macroadenoma","Macroprolactinoma","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Malignant insulinomas","Insulinoma, malignant","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Multiple endocrine neoplasia 1","Multiple endocrine neoplasia, type 1","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Parathyroid tumour","Neoplasm of parathyroid gland","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEN1","Prolactinoma","Prolactinoma","Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","Adrenal Cortical Adenoma:Autosomal Dominant$Angiofibroma:Autosomal Dominant$Carcinoid tumor of lung:Autosomal Dominant$Lipoma:Autosomal Dominant$Multiple endocrine neoplasia, type 1:Autosomal Dominant$Parathyroid adenoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4221[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1538~613733~-","MEN1"]
["MEOX1","Klippel-Feil syndrome","Klippel Feil syndrome recessive type","Autosomal Recessive","Klippel Feil syndrome recessive type:Autosomal Recessive","Klippel Feil syndrome recessive type:Autosomal Recessive","HIGH","-~-~600147~-","MEOX1"]
["MERTK","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10461[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604705~-","MERTK"]
["MERTK","Retinal dystrophy","Retinal dystrophy","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10461[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604705~-","MERTK"]
["MERTK","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10461[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604705~-","MERTK"]
["MERTK","Rod-cone dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10461[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604705~-","MERTK"]
["MERTK","Rod-cone dystrophy, childhood onset","Progressive cone-rod dystrophy","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10461[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604705~-","MERTK"]
["MESP2","Spondylocostal dysostosis","Jarcho-Levin syndrome","Autosomal Recessive","Spondylocostal dysostosis, Autosomal Recessive:Autosomal Recessive","Spondylocostal dysostosis, Autosomal Recessive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145873[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK45316$http://www.ncbi.nlm.nih.gov/books/NBK8828~605195~-","MESP2"]
["MET","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4233[geneid]~-~164860~-","MET"]
["MET","Diffuse large B-cell lymphoma","Diffuse Large B-Cell Lymphoma","Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4233[geneid]~-~164860~-","MET"]
["MET","Gastric cancer","Malignant tumor of stomach","Risk","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4233[geneid]~-~164860~-","MET"]
["MET","Lymphoedema","Lymphedema","Risk","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4233[geneid]~-~164860~-","MET"]
["MET","Papillary renal carcinoma","Renal Cell Carcinoma","Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","Liver cell carcinoma:Autosomal Dominant$Renal Cell Carcinoma:Autosomal Dominant$Papillary adenocarcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4233[geneid]~-~164860~-","MET"]
["METTL14","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57721[geneid]~-~-~-","METTL14"]
["MFF","Mitochondrial encephalomyopathy","Mitochondrial encephalomyopathy","Risk",null,null,"HIGH","-~-~614785~-","MFF"]
["MFGE8","Systemic lupus erythematosus","Systemic lupus erythematosus","Autosomal Recessive",null,null,"HIGH","-~-~602281~-","MFGE8"]
["MFN2","Axonal neuropathy, severe, early-onset","Axonal neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth Disease, Axonal, Type 2A2","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease 1, early onset","Charcot-Marie-Tooth disease, type I","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, type II","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease 2a","Charcot-Marie-Tooth Disease, Axonal, Type 2A2","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease 2a, early-onset","Charcot-Marie-Tooth Disease, Axonal, Type 2A2","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease 2A2","Charcot-Marie-Tooth Disease, Axonal, Type 2A2","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease, axonal","Charcot-Marie-Tooth Disease, Axonal, Type 2A2","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease, early onset axonal","Charcot-Marie-Tooth Disease, Axonal, Type 2A2","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Charcot-Marie-Tooth disease, intermediate","Charcot-Marie-Tooth Disease, Dominant Intermediate","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Hereditary motor & sensory neuropathy","Hereditary motor and sensory neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Hereditary motor neuropathy","Hereditary motor and sensory neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Mitochondrial DNA depletion","Depletion of mitochondrial DNA","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Mitochondrial DNA instability & optic atrophy plus","Depletion of mitochondrial DNA","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFN2","Stroke, early-onset","Stroke","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Axonal, Type 2A2:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9927[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1511$http://www.ncbi.nlm.nih.gov/books/NBK1285~608507~-","MFN2"]
["MFRP","Autism","Autistic Disorder","Risk","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Hyperopia, high","Hyperopia, High","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Microphthalmia with retinitis pigmentosa","Microphthalmos;Retinitis pigmentosa","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Nanophthalmos hyperopia","Nanophthalmos 1","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Nanophthalmos-retinitis pigmentosa complex","Nanophthalmos;Retinitis pigmentosa","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Posterior microphthalmos","Microphthalmos","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Primary angle closure glaucoma","Primary angle-closure glaucoma","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Retinal degeneration, late-onset","Late-Onset Retinal Degeneration","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFRP","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos 2:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive$Nanophthalmos:Autosomal Recessive","HIGH","-~-~606227~-","MFRP"]
["MFSD6L","Paediatric cataract","Juvenile cataract","Autosomal Recessive",null,null,null,"-~-~-~-","MFSD6L"]
["MFSD8","Neuronal ceroid lipofuscinoses, late infantile","Ceroid Lipofuscinosis, Neuronal, 7","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 7:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=256471[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~611124~-","MFSD8"]
["MGAT2","Congenital disorder of glycosylation 2a","Carbohydrate-deficient glycoprotein syndrome type II","Autosomal Recessive","Congenital disorder of glycosylation type 2A:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome type II:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4247[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~602616~-","MGAT2"]
["MGLL","Obesity","Obesity","Risk",null,null,"HIGH","-~-~609699~-","MGLL"]
["MGME1","Multisystemic mitochondrial disease","Depletion of mitochondrial DNA","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","-~-~615076~-","MGME1"]
["MGMT","Promoter methylation in colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~156569~-","MGMT"]
["MGP","Elevated serum MGP","Atherosclerosis;Aortic valve stenosis","Risk","Keutel syndrome:Autosomal Recessive$Humeroradial synostosis:Autosomal Recessive","Humeroradial synostosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4256[geneid]~-~154870~-","MGP"]
["MGP","Keutel syndrome","Humeroradial synostosis","Autosomal Recessive","Keutel syndrome:Autosomal Recessive$Humeroradial synostosis:Autosomal Recessive","Humeroradial synostosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4256[geneid]~-~154870~-","MGP"]
["MGST2","Psoriasis vulgaris","Psoriasis vulgaris","Autosomal Recessive",null,null,"HIGH","-~-~601733~-","MGST2"]
["MGST3","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk",null,null,"HIGH","-~-~604564~-","MGST3"]
["MHC2TA","Immunodeficiency","Bare Lymphocyte Syndrome, Type II, Complementation Group A","Autosomal Recessive","Bare Lymphocyte Syndrome, Type II, Complementation Group A:Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Recessive","HIGH","-~-~600005~-","CIITA"]
["MIB1","Cardiomyopathy, left ventricular noncompaction","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57534[geneid]~-~608677~-","MIB1"]
["MIB1","Intellectual disability","Intellectual Disability","Risk","Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57534[geneid]~-~608677~-","MIB1"]
["MICA","Hepatocellular carcinoma, HCV-related, increased risk","Liver cell carcinoma","Risk","Liver cell carcinoma:Risk","Liver cell carcinoma:Risk","HIGH","-~-~600169~-","MICA"]
["MICA","Null allele","NULL","Need full text PMID 22220750,21644930","NULL","NULL","HIGH","-~-~600169~-","MICA"]
["MICA","Null allele","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~600169~-","MICA"]
["MICAL3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608882~-","MICAL3"]
["MICALCL","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612355~-","MICALCL"]
["MICALCL","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612355~-","MICALCL"]
["MICB","Null allele","NULL","No disease association mentioned PMID 9321430,15304008","NULL","NULL","HIGH","-~-~602436~-","MICB"]
["MICB","Null allele","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~602436~-","MICB"]
["MID1","Hypospadias","Hypospadias","X-linked Recessive","Opitz-Frias syndrome:X-linked Recessive$Opitz GBBB Syndrome, X-Linked:X-linked Recessive","Opitz-Frias syndrome:X-linked Recessive$Opitz GBBB Syndrome, X-Linked:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1327~300552~-","MID1"]
["MID1","Opitz G/BBB syndrome","Opitz-Frias syndrome","X-linked Recessive","Opitz-Frias syndrome:X-linked Recessive$Opitz GBBB Syndrome, X-Linked:X-linked Recessive","Opitz-Frias syndrome:X-linked Recessive$Opitz GBBB Syndrome, X-Linked:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1327~300552~-","MID1"]
["MID1","Penoscrotal hypospadias & hypertelorism","Hypospadias, penoscrotal;Hypertelorism","X-linked Recessive","Opitz-Frias syndrome:X-linked Recessive$Opitz GBBB Syndrome, X-Linked:X-linked Recessive","Opitz-Frias syndrome:X-linked Recessive$Opitz GBBB Syndrome, X-Linked:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4281[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1327~300552~-","MID1"]
["MINPP1","Thyroid adenoma, follicular","Follicular thyroid carcinoma","Autosomal Dominant","Follicular thyroid carcinoma:Autosomal Dominant","Follicular thyroid carcinoma:Autosomal Dominant","HIGH","-~-~605391~-","MINPP1"]
["MIP","Cataract, Autosomal Dominant","Cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~154050~-","MAFIP"]
["MIP","Cataract, cerulean","Congenital blue dot cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~154050~-","MAFIP"]
["MIP","Cataract, congenital nuclear","Embryonal nuclear cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~154050~-","MAFIP"]
["MIP","Cataract, lamellar","Congenital lamellar cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~154050~-","MIP"]
["MIP","Cataract, nuclear","Embryonal nuclear cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~154050~-","MIP"]
["MIP","Cataract, polymorphic and lamellar","Congenital lamellar cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~154050~-","MAFIP"]
["MIR184","Keratoconus with cataract","EDICT syndrome","Autosomal Dominant","EDICT syndrome:Autosomal Dominant","EDICT syndrome:Autosomal Dominant","HIGH","-~-~613146~-","MIR184"]
["MIR191","Ovarian cancer predisposition","Malignant tumor of ovary","Risk",null,null,"HIGH","-~-~615150~-","MIR191"]
["MIR30C1","Breast cancer","Malignant tumor of breast","Risk","Malignant tumor of breast:Risk","Malignant tumor of breast:Risk","HIGH","-~-~615151~-","MIR30C1"]
["MIR608","Breast cancer, HER2-positive, increased risk","Malignant tumor of breast","Risk",null,null,null,"-~-~-~-","MIR608"]
["MIR96","Hearing loss, progressive, non-syndromic","Hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=407053[geneid]~-~611606~-","MIR96"]
["MITF","Tietz syndrome","Albinism-deafness syndrome of Tietz","Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Tietz syndrome:Autosomal Dominant$Waardenburg syndrome type 2A:Autosomal Dominant$Waardenburg syndrome type 2:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4286[geneid]~-~156845~-","MITF"]
["MITF","Waardenburg syndrome","Waardenburg's syndrome","Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Tietz syndrome:Autosomal Dominant$Waardenburg syndrome type 2A:Autosomal Dominant$Waardenburg syndrome type 2:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4286[geneid]~-~156845~-","MITF"]
["MITF","Waardenburg syndrome 2","Waardenburg syndrome type 2","Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Tietz syndrome:Autosomal Dominant$Waardenburg syndrome type 2A:Autosomal Dominant$Waardenburg syndrome type 2:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4286[geneid]~-~156845~-","MITF"]
["MITF","Waardenburg syndrome 2A","Waardenburg syndrome type 2A","Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Tietz syndrome:Autosomal Dominant$Waardenburg syndrome type 2A:Autosomal Dominant$Waardenburg syndrome type 2:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Albinism-deafness syndrome of Tietz:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4286[geneid]~-~156845~-","MITF"]
["MKKS","Bardet-Biedl syndrome","Bardet-Biedl Syndrome 6","Autosomal Recessive","Bardet-Biedl Syndrome 6:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$McKusick-Kaufman syndrome:Autosomal Recessive$McKusick Kaufman syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$McKusick Kaufman syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8195[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1502$http://www.ncbi.nlm.nih.gov/books/NBK1363~604896~-","MKKS"]
["MKKS","McKusick-Kaufman syndrome","McKusick Kaufman syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 6:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$McKusick-Kaufman syndrome:Autosomal Recessive$McKusick Kaufman syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$McKusick Kaufman syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8195[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1502$http://www.ncbi.nlm.nih.gov/books/NBK1363~604896~-","MKKS"]
["MKKS","Phenotype modifier","Bardet-Biedl syndrome","Modifier","Bardet-Biedl Syndrome 6:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$McKusick-Kaufman syndrome:Autosomal Recessive$McKusick Kaufman syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$McKusick Kaufman syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8195[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1502$http://www.ncbi.nlm.nih.gov/books/NBK1363~604896~-","MKKS"]
["MKL2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609463~-","MKL2"]
["MKRN3","Central precocious puberty","Central precocious puberty","Autosomal Dominant","Central precocious puberty:Autosomal Dominant","Central precocious puberty:Autosomal Dominant","HIGH","-~-~603856~-","MKRN3"]
["MKS1","Bardet-Biedl syndrome","Bardet-Biedl Syndrome 13","Autosomal Recessive","Bardet-Biedl Syndrome 13:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Meckel syndrome type 1:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54903[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~609883~-","MKS1"]
["MKS1","Cone-rod dystrophy","Progressive cone-rod dystrophy","Risk","Bardet-Biedl Syndrome 13:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Meckel syndrome type 1:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54903[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~609883~-","MKS1"]
["MKS1","Meckel syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 13:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Meckel syndrome type 1:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54903[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~609883~-","MKS1"]
["MKS1","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 13:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Meckel syndrome type 1:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54903[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~609883~-","MKS1"]
["MLC1","Bipolar affective disorder","Bipolar disorder","Risk","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23209[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1535~605908~-","MLC1"]
["MLC1","Catatonic schizophrenia","Catatonic schizophrenia","Autosomal Dominant","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23209[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1535~605908~-","MLC1"]
["MLC1","Megalencephalic leukoencephalopathy","Megalencephalic leukoencephalopathy with subcortical cysts","Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23209[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1535~605908~-","MLC1"]
["MLC1","Megalencephalic leukoencephalopathy with subcortical cysts","Megalencephalic leukoencephalopathy with subcortical cysts","Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","Megalencephalic leukoencephalopathy with subcortical cysts:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23209[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1535~605908~-","MLC1"]
["MLCK","Aortic dissections","Dissection of aorta;Dissecting aortic aneurysm","Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4638[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~600922~-","MYLK"]
["MLH1","Breast and colorectal cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Colon cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Colorectal cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Colorectal cancer, early onset","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Colorectal cancer, non-polyposis","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Colorectal cancer, young-onset","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Constitutional mismatch repair deficiency syndrome","Turcot syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Cystic sebaceous tumour","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Endometrial cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Gastric cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Gastrointestinal cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Glioblastoma","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Muir-Torre syndrome","Muir-Torre syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Ovarian cancer","Malignant tumor of ovary","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH1","Turcot syndrome","Turcot syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4292[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~120436~-","MLH1"]
["MLH3","Colorectal cancer, non-polyposis","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1211~604395~-","MLH3"]
["MLH3","Endometrial cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1211~604395~-","MLH3"]
["MLH3","Oesophageal cancer","Lynch syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 2:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Dominant$Muir-Torre Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1211~604395~-","MLH3"]
["MLIV","Mucolipidosis IV","Ganglioside sialidase deficiency","Autosomal Recessive","Ganglioside sialidase deficiency:Autosomal Recessive$Mucolipidosis IV:Autosomal Recessive$Mucolipidosis Type IV:Autosomal Recessive","Ganglioside sialidase deficiency:Autosomal Recessive$Mucolipidosis Type IV:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57192[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1214~605248~-","MCOLN1"]
["MLL","Autism","Autistic Disorder","Risk","Growth Deficiency and Mental Retardation with Facial Dysmorphism:Autosomal Dominant","Growth Deficiency and Mental Retardation with Facial Dysmorphism:Autosomal Dominant","HIGH","-~-~159555~-","KMT2A"]
["MLL","Lymphoma, B-cell","Lymphoid leukemia;Myeloid Leukemia","Risk","Growth Deficiency and Mental Retardation with Facial Dysmorphism:Autosomal Dominant","Growth Deficiency and Mental Retardation with Facial Dysmorphism:Autosomal Dominant","HIGH","-~-~159555~-","KMT2A"]
["MLL","Wiedemann-Steiner syndrome","Growth Deficiency and Mental Retardation with Facial Dysmorphism","Autosomal Dominant","Growth Deficiency and Mental Retardation with Facial Dysmorphism:Autosomal Dominant","Growth Deficiency and Mental Retardation with Facial Dysmorphism:Autosomal Dominant","HIGH","-~-~159555~-","KMT2A"]
["MLL2","Congenital heart disease","Congenital heart disease","Risk","Kabuki make-up syndrome:Autosomal Dominant","Kabuki make-up syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8085[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62111~602113~-","KMT2D"]
["MLL2","Kabuki syndrome","Kabuki make-up syndrome","Autosomal Dominant","Kabuki make-up syndrome:Autosomal Dominant","Kabuki make-up syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8085[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK62111~602113~-","KMT2D"]
["MLL3","Autism","Autistic Disorder","Risk","Kleefstra syndrome:Autosomal Dominant","Kleefstra syndrome:Autosomal Dominant","HIGH","-~-~606833~-","KMT2C"]
["MLL3","Colorectal cancer and acute myeloid leukaemia","Acute myeloid leukemia, disease;Colorectal Cancer","Risk","Kleefstra syndrome:Autosomal Dominant","Kleefstra syndrome:Autosomal Dominant","HIGH","-~-~606833~-","KMT2C"]
["MLL3","Kleefstra syndrome","Kleefstra syndrome","Autosomal Dominant","Kleefstra syndrome:Autosomal Dominant","Kleefstra syndrome:Autosomal Dominant","HIGH","-~-~606833~-","KMT2C"]
["MLL5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608444~-","KMT2E"]
["MLPH","Griscelli syndrome","Griscelli syndrome type 3","Autosomal Recessive","Griscelli syndrome type 3:Autosomal Recessive","Griscelli syndrome type 3:Autosomal Recessive","HIGH","-~-~606526~-","MLPH"]
["MLYCD","Malonyl-CoA decarboxylase deficiency","Deficiency of malonyl-CoA decarboxylase","Autosomal Recessive","Deficiency of malonyl-CoA decarboxylase:Autosomal Recessive$Malonic aciduria:Autosomal Recessive","Malonic aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23417[geneid]~-~606761~-","MLYCD"]
["MMAA","Methylmalonic acidaemia","Methylmalonic acidemia with homocystinuria","Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=166785[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1231~607481~-","MMAA"]
["MMAB","Methylmalonic aciduria","Methylmalonic acidemia","Autosomal Recessive","Methylmalonic aciduria cblB type:Autosomal Recessive","Methylmalonic aciduria cblB type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1231~607568~-","MMAB"]
["MMAB","Methylmalonic aciduria and metabolic ketoacidosis","Methylmalonic acidemia;Ketoacidosis, Metabolic","Autosomal Recessive","Methylmalonic aciduria cblB type:Autosomal Recessive","Methylmalonic aciduria cblB type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1231~607568~-","MMAB"]
["MMAB","Methylmalonic aciduria, cblB type","Methylmalonic aciduria cblB type","Autosomal Recessive","Methylmalonic aciduria cblB type:Autosomal Recessive","Methylmalonic aciduria cblB type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=326625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1231~607568~-","MMAB"]
["MMACHC","cblC deficiency","Methylmalonic acidemia with homocystinuria","Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25974[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~609831~-","MMACHC"]
["MMACHC","Haemolytic uraemic syndrome, atypical","Atypical hemolytic uremic syndrome","Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25974[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~609831~-","MMACHC"]
["MMACHC","Methylmalonic aciduria","Methylmalonic acidemia","Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25974[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~609831~-","MMACHC"]
["MMACHC","Methylmalonic aciduria & homocystinuria, cblC type","Methylmalonic acidemia with homocystinuria","Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25974[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~609831~-","MMACHC"]
["MMADHC","Homocystinuria, cblD type","Homocystinuria, CblD Type, Variant 1","Autosomal Recessive","Homocystinuria, CblD Type, Variant 1:Autosomal Recessive$Methylmalonic Aciduria and Homocystinuria, CblD Type:Autosomal Recessive$Methylmalonic Aciduria, CblD Type, Variant 2:Autosomal Recessive$Methylmalonic acidemia with homocystinuria:Autosomal Recessive$Homocystinuria:Autosomal Recessive$Methylmalonic acidemia:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive$Homocystinuria:Autosomal Recessive$Methylmalonic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328$http://www.ncbi.nlm.nih.gov/books/NBK1231~611935~-","MMADHC"]
["MMADHC","Methylmalonic aciduria & homocystinuria, cblD type","Methylmalonic Aciduria and Homocystinuria, CblD Type","Autosomal Recessive","Homocystinuria, CblD Type, Variant 1:Autosomal Recessive$Methylmalonic Aciduria and Homocystinuria, CblD Type:Autosomal Recessive$Methylmalonic Aciduria, CblD Type, Variant 2:Autosomal Recessive$Methylmalonic acidemia with homocystinuria:Autosomal Recessive$Homocystinuria:Autosomal Recessive$Methylmalonic acidemia:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive$Homocystinuria:Autosomal Recessive$Methylmalonic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328$http://www.ncbi.nlm.nih.gov/books/NBK1231~611935~-","MMADHC"]
["MMADHC","Methylmalonic aciduria, cblD type","Methylmalonic Aciduria and Homocystinuria, CblD Type","Autosomal Recessive","Homocystinuria, CblD Type, Variant 1:Autosomal Recessive$Methylmalonic Aciduria and Homocystinuria, CblD Type:Autosomal Recessive$Methylmalonic Aciduria, CblD Type, Variant 2:Autosomal Recessive$Methylmalonic acidemia with homocystinuria:Autosomal Recessive$Homocystinuria:Autosomal Recessive$Methylmalonic acidemia:Autosomal Recessive","Methylmalonic acidemia with homocystinuria:Autosomal Recessive$Homocystinuria:Autosomal Recessive$Methylmalonic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328$http://www.ncbi.nlm.nih.gov/books/NBK1231~611935~-","MMADHC"]
["MME","Fetomaternal alloimmunisation","Membranous glomerulonephritis, neonatal;Chronic renal failure syndrome","Autosomal Recessive (The maternal MME-/- genotype leads to  Membranous glomerulonephritis, neonatal followed by early adult onset Chronic renal failure 15464186)","Membranous glomerulonephritis:Autosomal Recessive","Membranous glomerulonephritis:Autosomal Recessive","HIGH","-~-~120520~-","MME"]
["MMP10","Thoracic aortic aneurysm, smaller diameter","NULL","Not listed in OMIM or HGMD","NULL","NULL","HIGH","-~-~185260~-","MMP10"]
["MMP10","Thoracic aortic aneurysm, smaller diameter","NULL","HGMD mentions association with chronic lymphocytic leukemia","NULL","NULL","HIGH","-~-~185260~-","MMP10"]
["MMP13","Metaphyseal anadysplasia","Metaphyseal Anadysplasia 1","Autosomal Dominant","Metaphyseal Anadysplasia 1:Autosomal Recessive$Spondyloepimetaphyseal Dysplasia, Missouri Type:Autosomal Dominant","Spondyloepimetaphyseal Dysplasia, Missouri Type:Autosomal Dominant","HIGH","-~-~600108~-","MMP13"]
["MMP13","Metaphyseal anadysplasia","Metaphyseal Anadysplasia 1","Autosomal Recessive","Metaphyseal Anadysplasia 1:Autosomal Recessive$Spondyloepimetaphyseal Dysplasia, Missouri Type:Autosomal Dominant","Spondyloepimetaphyseal Dysplasia, Missouri Type:Autosomal Dominant","HIGH","-~-~600108~-","MMP13"]
["MMP13","Spondyloepimetaphyseal dysplasia, Missouri type","Spondyloepimetaphyseal Dysplasia, Missouri Type","Autosomal Dominant","Metaphyseal Anadysplasia 1:Autosomal Recessive$Spondyloepimetaphyseal Dysplasia, Missouri Type:Autosomal Dominant","Spondyloepimetaphyseal Dysplasia, Missouri Type:Autosomal Dominant","HIGH","-~-~600108~-","MMP13"]
["MMP14","Winchester disease","Winchester syndrome","Autosomal Recessive","Winchester syndrome:Autosomal Recessive","Winchester syndrome:Autosomal Recessive","HIGH","-~-~600754~-","MMP14"]
["MMP19","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601807~-","MMP19"]
["MMP2","Osteolysis, idiopathic, Saudi type","Idiopathic multicentric osteolysis","Autosomal Recessive","Osteolysis hereditary multicentric:Autosomal Recessive$Torg-Winchester Syndrome:Autosomal Recessive","Osteolysis hereditary multicentric:Autosomal Recessive$Torg-Winchester Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4313[geneid]~-~120360~-","MMP2"]
["MMP2","Reduced transcription","NULL","No disease association PMID 12657623","NULL","NULL","HIGH","-~-~120360~-","MMP2"]
["MMP2","Torg-Winchester syndrome","Osteolysis hereditary multicentric","Autosomal Recessive","Osteolysis hereditary multicentric:Autosomal Recessive$Torg-Winchester Syndrome:Autosomal Recessive","Osteolysis hereditary multicentric:Autosomal Recessive$Torg-Winchester Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4313[geneid]~-~120360~-","MMP2"]
["MMP2","Winchester disease","Winchester syndrome","Autosomal Recessive","Osteolysis hereditary multicentric:Autosomal Recessive$Torg-Winchester Syndrome:Autosomal Recessive","Osteolysis hereditary multicentric:Autosomal Recessive$Torg-Winchester Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4313[geneid]~-~120360~-","MMP2"]
["MMP20","Amelogenesis imperfecta","Amelogenesis imperfecta","Autosomal Recessive","Amelogenesis Imperfecta, Hypomaturation Type, IIA2:Autosomal Recessive","Amelogenesis Imperfecta, Hypomaturation Type, IIA2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9313[geneid]~-~604629~-","MMP20"]
["MMP20","Hypomaturation amelogenesis imperfecta","Amelogenesis Imperfecta, Hypomaturation Type, IIA2","Autosomal Recessive","Amelogenesis Imperfecta, Hypomaturation Type, IIA2:Autosomal Recessive$Amelogenesis imperfecta:Autosomal Recessive","Amelogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9313[geneid]~-~604629~-","MMP20"]
["MMP20","Pigmented hypomaturation amelogenesis imperfecta","Amelogenesis imperfecta, pigmented hypomaturation type","Autosomal Recessive","Amelogenesis Imperfecta, Hypomaturation Type, IIA2:Autosomal Recessive$Amelogenesis imperfecta:Autosomal Recessive","Amelogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9313[geneid]~-~604629~-","MMP20"]
["MMP8","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~120355~-","MMP8"]
["MMP9","Increased expression","NULL","No disease association PMID 17409198","NULL","NULL","HIGH","-~-~120361~-","MMP9"]
["MMP9","Metaphyseal anadysplasia","Metaphyseal Anadysplasia 2","Autosomal Recessive","Metaphyseal Anadysplasia 2:Autosomal Recessive$Metaphyseal anadysplasia:Autosomal Recessive","Metaphyseal anadysplasia:Autosomal Recessive","HIGH","-~-~120361~-","MMP9"]
["MMRN2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608925~-","MMRN2"]
["MNX1","Currarino syndrome","Currarino triad","Autosomal Dominant","Currarino triad:Autosomal Dominant","Currarino triad:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3110[geneid]~-~142994~-","MNX1"]
["MNX1","Diabetes, permanent neonatal","Neonatal diabetes mellitus","Autosomal Recessive","Currarino triad:Autosomal Dominant","Currarino triad:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3110[geneid]~-~142994~-","MNX1"]
["MNX1","Sacral agenesis","Sacral agenesis","Autosomal Dominant","Currarino triad:Autosomal Dominant","Currarino triad:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3110[geneid]~-~142994~-","MNX1"]
["MOBKL3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~-~-","MOBKL3"]
["MOCOS","Xanthinuria, type 2","Combined molybdoflavoprotein enzyme deficiency","Autosomal Recessive",null,null,"HIGH","-~-~613274~-","MOCOS"]
["MOCS1","Molybdenum cofactor deficiency","Combined molybdoflavoprotein enzyme deficiency","Autosomal Recessive","Molybdenum Cofactor Deficiency, Complementation Group A:Autosomal Recessive","Molybdenum Cofactor Deficiency, Complementation Group A:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4337[geneid]~-~603707~-","MOCS1"]
["MOCS2","Molybdenum cofactor deficiency","Combined molybdoflavoprotein enzyme deficiency","Autosomal Recessive","Molybdenum Cofactor Deficiency, Complementation Group B:Autosomal Recessive","Molybdenum Cofactor Deficiency, Complementation Group B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4338[geneid]~-~603708~-","MOCS2"]
["MOCS2","Molybdenum cofactor deficiency B","Combined molybdoflavoprotein enzyme deficiency","Autosomal Recessive","Molybdenum Cofactor Deficiency, Complementation Group B:Autosomal Recessive","Molybdenum Cofactor Deficiency, Complementation Group B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4338[geneid]~-~603708~-","MOCS2"]
["MOG","Narcolepsy with cataplexy","Cataplexy and narcolepsy","Autosomal Dominant","Narcolepsy:Autosomal Dominant","Narcolepsy:Autosomal Dominant","HIGH","-~-~159465~-","MOG"]
["MOGS","Glucosidase 1 deficiency","Congenital Disorder Of Glycosylation, Type IIB","Autosomal Recessive","Congenital Disorder Of Glycosylation, Type IIB:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7841[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~601336~-","MOGS"]
["MOV10","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610742~-","MOV10"]
["MPDU1","Congenital disorder of glycosylation 1f","Congenital disorder of glycosylation type 1F","Autosomal Recessive","Congenital disorder of glycosylation type 1F:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9526[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~604041~-","MPDU1"]
["MPDZ","Autism","Autistic Disorder","Risk","Hydrocephalus:Autosomal Recessive","Hydrocephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84708[geneid]~-~609732~-","LNX1"]
["MPDZ","Hydrocephalus","Hydrocephalus","Autosomal Recessive","Hydrocephalus:Autosomal Recessive","Hydrocephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84708[geneid]~-~609732~-","LNX1"]
["MPDZ","Leber congenital amaurosis","Leber's amaurosis","Autosomal Dominant","Hydrocephalus:Autosomal Recessive","Hydrocephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84708[geneid]~-~609732~-","LNX1"]
["MPDZ","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Hydrocephalus:Autosomal Recessive","Hydrocephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84708[geneid]~-~609732~-","LNX1"]
["MPHOSPH8","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611626~-","MPHOSPH8"]
["MPI","Congenital disorder of glycosylation 1b","Congenital disorder of glycosylation type 1B","Autosomal Recessive","Congenital disorder of glycosylation type 1B:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~154550~-","MPI"]
["MPL","Amegakaryocytic thrombocytopaenia, congenital","Congenital amegakaryocytic thrombocytopenia","Autosomal Recessive","Myelosclerosis with myeloid metaplasia:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Congenital amegakaryocytic thrombocytopenia:Autosomal Recessive","Myelosclerosis with myeloid metaplasia:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Congenital amegakaryocytic thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4352[geneid]~-~159530~-","MPL"]
["MPL","Diamond-Blackfan anaemia, modifier of","Congenital hypoplastic anemia","Modifier","Myelosclerosis with myeloid metaplasia:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Congenital amegakaryocytic thrombocytopenia:Autosomal Recessive","Myelosclerosis with myeloid metaplasia:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Congenital amegakaryocytic thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4352[geneid]~-~159530~-","MPL"]
["MPL","Thrombocytosis","Thrombocytosis","Autosomal Dominant","Myelosclerosis with myeloid metaplasia:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Congenital amegakaryocytic thrombocytopenia:Autosomal Recessive","Myelosclerosis with myeloid metaplasia:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Congenital amegakaryocytic thrombocytopenia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4352[geneid]~-~159530~-","MPL"]
["MPO","Myeloperoxidase deficiency","Myeloperoxidase deficiency","Autosomal Recessive","Myeloperoxidase deficiency:Autosomal Recessive","Myeloperoxidase deficiency:Autosomal Recessive","HIGH","-~-~606989~-","MPO"]
["MPP6","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606959~-","MPP6"]
["MPV17","Lethal hepatopathy & leukodystrophy","Disease of liver;Leukodystrophy","Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4358[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92947~137960~-","MPV17"]
["MPV17","Liver failure in infancy","Fatal liver failure in infancy","Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4358[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92947~137960~-","MPV17"]
["MPV17","Mitochondrial DNA depletion syndrome","Navajo neurohepatopathy","Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4358[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92947~137960~-","MPV17"]
["MPV17","Mitochondrial DNA depletion syndrome, hepatic","Disease of liver","Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4358[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92947~137960~-","MPV17"]
["MPV17","Mitochondrial DNA depletion syndrome, hepatocerebral","Navajo neurohepatopathy","Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4358[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92947~137960~-","MPV17"]
["MPV17","Multisystemic disease","Depletion of mitochondrial DNA","Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Navajo neurohepatopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4358[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92947~137960~-","MPV17"]
["MPZ","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth Disease, Dominant Intermediate D","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Charcot-Marie-Tooth disease 1","Charcot-Marie-Tooth disease, type I","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Charcot-Marie-Tooth disease 1b","Charcot-Marie-Tooth disease, type IB","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, Type 2J","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Charcot-Marie-Tooth disease 2I","Charcot-Marie-Tooth disease 2I","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Charcot-Marie-Tooth disease, demyelinating","Charcot-Marie-Tooth disease, type I","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Congenital hypomyelinating neuropathy","Congenital hypomyelinating neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Dejerine-Sottas syndrome","Dejerine-Sottas syndrome","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Dejerine-Sottas syndrome","Dejerine-Sottas syndrome","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Demyelinating neuropathy","Peripheral demyelinating neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Demyelinating polyneuropathy","Peripheral demyelinating neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Hereditary motor & sensory neuropathy","Hereditary motor and sensory neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Hypomyelinating neuropathy","Congenital hypomyelinating neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Motor-sensory neuropathy","Hereditary motor and sensory neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Neurofibromatosis 1 & Charcot-Marie-Tooth 1B","Neurofibromatosis, type 1;Charcot-Marie-Tooth disease, type IB","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Neuropathy motor / sensory, intermediate","Hereditary motor and sensory neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Neuropathy, axonal","Axonal neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Neuropathy, hereditary","Hereditary motor and sensory neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Polyneuropathy","Peripheral demyelinating neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MPZ","Roussy-Levy syndrome","Roussy-Levy syndrome","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate D:Autosomal Dominant$Charcot-Marie-Tooth disease, type IB:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2I:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2J:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Congenital hypomyelinating neuropathy:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4359[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285$http://www.ncbi.nlm.nih.gov/books/NBK1205~159440~-","MPZ"]
["MR1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600764~-","MR1"]
["MRAP","Glucocorticoid deficiency 2","Glucocorticoid Deficiency 2","Autosomal Recessive","Glucocorticoid Deficiency 2:Autosomal Recessive","Glucocorticoid Deficiency 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56246[geneid]~-~609196~-","MRAP"]
["MRAP2","Obesity, severe, early-onset","Obesity","Risk",null,null,null,"-~-~-~-","MRAP2"]
["MRE11A","Ataxia telangiectasia-like disease","Ataxia Telangiectasia Like Disorder","Autosomal Recessive","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4361[geneid]~-~600814~-","MRE11A"]
["MRE11A","Breast cancer","Malignant tumor of breast","Risk","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4361[geneid]~-~600814~-","MRE11A"]
["MRE11A","Microcephaly, severe","Microcephaly, severe","Autosomal Recessive","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4361[geneid]~-~600814~-","MRE11A"]
["MRE11A","Ovarian cancer","Malignant tumor of ovary","Risk","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4361[geneid]~-~600814~-","MRE11A"]
["MRE11A","Ovarian carcinoma","Ovarian Carcinoma","Risk","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","Ataxia Telangiectasia Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4361[geneid]~-~600814~-","MRE11A"]
["MRP6","Angioid streaks","Angioid streaks of choroid","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1113~603234~-","ABCC6"]
["MRP6","Pseudoxanthoma elasticum","Pseudoxanthoma elasticum","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1113~603234~-","ABCC6"]
["MRP6","Pseudoxanthoma elasticum with angioid streaks","Pseudoxanthoma elasticum","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1113~603234~-","ABCC6"]
["MRP6","Pseudoxanthoma elasticum, Autosomal Dominant","Pseudoxanthoma elasticum","Autosomal Dominant","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1113~603234~-","ABCC6"]
["MRP6","Pseudoxanthoma elasticum, Autosomal Recessive","Pseudoxanthoma elasticum","Autosomal Recessive","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","Arterial calcification of infancy:Autosomal Recessive$Pseudoxanthoma elasticum:Autosomal Recessive$Pseudoxanthoma Elasticums, Incomplete:Autosomal Dominant$Pseudoxanthoma Elasticum, Forme Fruste:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1113~603234~-","ABCC6"]
["MRPL12","Growth retardation and neurological deterioration","Growth retardation;Disorder of nervous system","Autosomal Recessive",null,null,"HIGH","-~-~602375~-","MRPL12"]
["MRPL3","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Recessive","Combined oxidative phosphorylation deficiency 9:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11222[geneid]~-~607118~-","MRPL3"]
["MRPL3","Combined oxidative phosphorylation deficiency 9","Combined oxidative phosphorylation deficiency 9","Autosomal Recessive","Combined oxidative phosphorylation deficiency 9:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11222[geneid]~-~607118~-","MRPL3"]
["MRPL44","Mitochondrial cardiomyopathy, infantile","Fatal infantile mitochondrial cardiomyopathy","Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","-~-~611849~-","MRPL44"]
["MRPS16","Mitochondrial respiratory chain disorder","Disorder of mitochondrial respiratory chain complexes;Combined Oxidative Phosphorylation Deficiency 2","Autosomal Recessive","Combined oxidative phosphorylation deficiency 2:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51021[geneid]~-~609204~-","MRPS16"]
["MRPS22","Mitochondrial respiratory chain disorder","Disorder of mitochondrial respiratory chain complexes","Autosomal Recessive","Combined oxidative phosphorylation deficiency 5:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56945[geneid]~-~605810~-","MRPS22"]
["MRPS22","OXPHOS deficiency","Combined Oxidative Phosphorylation Deficiency 5","Autosomal Recessive","Combined oxidative phosphorylation deficiency 5:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56945[geneid]~-~605810~-","MRPS22"]
["MRRF","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk",null,null,"HIGH","-~-~604602~-","MRRF"]
["MS4A10","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608403~-","MS4A10"]
["MS4A2","Asthma, aspirin-intolerant","NULL","Negated by PMID 10427478","NULL","NULL","HIGH","-~-~147138~-","MS4A2"]
["MS4A2","Atopy","NULL","Negated by PMID 10427478","NULL","NULL","HIGH","-~-~147138~-","MS4A2"]
["MSH2","Acute lymphocytic leukaemia and cafe-au-lait spots","Acute lymphocytic leukemia;Cafe au lait spots","Autosomal Recessive","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Breast carcinoma","Carcinoma of breast","Risk","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","CNS tumour and lymphoma","Neoplasm of brain;Malignant lymphoma","Autosomal Recessive","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Colon cancer","Colorectal Cancer, hereditary nonpolyposis, type 1","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Colorectal / endometrial cancer","Colorectal Cancer","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Colorectal cancer, early onset","Colorectal Cancer","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Colorectal cancer, non-polyposis","Colorectal cancer, hereditary nonpolyposis, type 1","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Colorectal cancer, non-polyposis, early-onset","Colorectal cancer, hereditary nonpolyposis, type 1","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Endometrial cancer","Malignant neoplasm of endometrium","Risk","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Gastric cancer","Malignant neoplasm of stomach","Risk","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Gastrointestinal cancer","Gastrointestinal Tract Cancer","Risk","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant (2p16)$Colorectal cancer, hereditary nonpolyposis, type 1$Mismatch repair cancer syndrome:Autosomal Recessive$Mismatch repair cancer syndrome$Muir-Torre syndrome:Autosomal Dominant$Muir-Torre syndrome","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Glioma","Glioma","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Metachronous colorectal carcinoma","Colorectal Carcinomas","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Mismatch repair defect","Turcot syndrome","Autosomal Recessive","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Muir-Torre syndrome","Muir-Torre syndrome","Autosomal Dominant","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Ovarian cancer","Malignant tumor of ovary","Risk","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant (2p16)$Colorectal cancer, hereditary nonpolyposis, type 1$Mismatch repair cancer syndrome:Autosomal Recessive$Mismatch repair cancer syndrome$Muir-Torre syndrome:Autosomal Dominant$Muir-Torre syndrome","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Reduced expression","Colorectal Cancer","Risk","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Renal and ureteric cancer","Renal Pelvis and Ureter Urothelial Carcinoma","Risk","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Renal cell carcinoma","NULL","Negated by PMID 18325052","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH2","Turcot syndrome","Turcot syndrome","Autosomal Recessive","Colorectal cancer, hereditary nonpolyposis, type 1:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Turcot syndrome:Autosomal Recessive$Torre-Muir syndrome:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~609309~-","MSH2"]
["MSH3","Colon cancer","Malignant tumor of colon","Autosomal Dominant","Endometrial carcinoma:Autosomal Dominant","Endometrial carcinoma:Autosomal Dominant","HIGH","-~-~600887~-","MSH3"]
["MSH3","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Endometrial carcinoma:Autosomal Dominant","Endometrial carcinoma:Autosomal Dominant","HIGH","-~-~600887~-","MSH3"]
["MSH5","Common variable agammaglobulinemia","Common variable agammaglobulinemia","Autosomal Recessive",null,null,"HIGH","-~-~603382~-","MSH5"]
["MSH5","Immunoglobulin A deficiency","Immunoglobulin A deficiency","Autosomal Recessive",null,null,"HIGH","-~-~603382~-","MSH5"]
["MSH5","Weakened protein interaction","NULL","No disease association PMID 15907804","NULL","NULL","HIGH","-~-~603382~-","MSH5"]
["MSH5","Weakened protein interaction","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~603382~-","MSH5"]
["MSH6","Breast cancer predisposition","Malignant tumor of breast","Risk","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Cafe-au-lait, oligodendroglioma, rectal cancer","Cafe au lait spots;Oligodendroglioma;Malignant tumor of rectum","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Colon cancer","Malignant tumor of colon","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Colon cancer, breast cancer, leukaemia","Malignant tumor of colon;Malignant tumor of breast;Leukemia","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Colorectal / endometrial cancer","Colorectal Cancer;Malignant neoplasm of endometrium","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Colorectal cancer","Colorectal Cancer, Hereditary Nonpolyposis, Type 5","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Colorectal cancer, early onset","Colorectal Cancer","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Colorectal cancer, non-polyposis","Colorectal Cancer, Hereditary Nonpolyposis, Type 5","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Endometrial cancer","Malignant neoplasm of endometrium","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Impaired DNA repair","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Mismatch repair defect","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Muir-Torre syndrome","Muir-Torre syndrome","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Multiple colorectal adenoma","Adenoma of large intestine","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Neurofibromatosis, type 1","Neurofibromatosis, type 1","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Ovarian cancer","Malignant tumor of ovary","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","T-cell acute lymphoblastic lymphoma","Lymphoblastic T-cell lymphoma","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSH6","Turcot syndrome","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 5:Autosomal Dominant$Endometrial Carcinoma:Autosomal Dominant$Mismatch repair cancer syndrome:Autosomal Recessive$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","Endometrial Carcinoma:Autosomal Dominant$Turcot syndrome:Autosomal Recessive$Hereditary nonpolyposis colon cancer:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2956[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600678~-","MSH6"]
["MSMO1","Psoriasiform dermatitis, microcephaly & developmental delay","Psoriasiform dermatitis;Microcephalus;Developmental delay","Autosomal Recessive",null,null,"HIGH","-~-~-~-","SC4MOL"]
["MSR1","Barrett oesophagus/oesophageal adenocarcinoma","Barrett's esophagus;Adenocarcinoma of esophagus","Autosomal Dominant","Barrett's esophagus:Autosomal Dominant$Adenocarcinoma of esophagus:Autosomal Dominant$Malignant tumor of prostate:Autosomal Dominant","Barrett's esophagus:Autosomal Dominant$Adenocarcinoma of esophagus:Autosomal Dominant$Malignant tumor of prostate:Autosomal Dominant","HIGH","-~-~153622~-","MSR1"]
["MSR1","Prostate cancer","Malignant tumor of prostate","Risk","Barrett's esophagus:Autosomal Dominant$Adenocarcinoma of esophagus:Autosomal Dominant$Malignant tumor of prostate:Autosomal Dominant","Barrett's esophagus:Autosomal Dominant$Adenocarcinoma of esophagus:Autosomal Dominant$Malignant tumor of prostate:Autosomal Dominant","HIGH","-~-~153622~-","MSR1"]
["MSRB3","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~613719~-","MSRB3"]
["MSTN","Muscle hypertrophy, gross","Muscle hypertrophy","Autosomal Recessive","Muscle hypertrophy:Autosomal Recessive","Muscle hypertrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1498~601788~-","MSTN"]
["MSX1","Cleft lip and palate","Orofacial Cleft 5","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Cleft lip with or without cleft palate, nonsyndromic","Orofacial Cleft 5","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Cleft lip, incomplete","Orofacial Cleft 5","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Hypodontia","Partial congenital absence of teeth","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Oligodontia","Partial congenital absence of teeth","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Tooth agenesis","Tooth Agenesis, Familial","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Tooth agenesis and orofacial clefting","Tooth Agenesis, Familial;Orofacial Cleft 5","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Tooth agenesis with cleft lip","Tooth Agenesis, Familial;Orofacial Cleft 5","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX1","Witkop syndrome","Hypoplastic enamel-onycholysis-hypohidrosis syndrome","Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft 5:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypoplastic enamel-onycholysis-hypohidrosis syndrome:Autosomal Dominant$Witkop syndrome:Autosomal Dominant$Orofacial Cleft:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4487[geneid]~-~142983~-","MSX1"]
["MSX2","Cleft lip","Orofacial Cleft 5","Autosomal Dominant","Craniosynostosis, Type 2:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina 1:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~123101~-","MSX2"]
["MSX2","Craniosynostosis","Craniosynostosis, Type 2","Autosomal Dominant","Craniosynostosis, Type 2:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina 1:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~123101~-","MSX2"]
["MSX2","Enlarged parietal foramina","Parietal Foramina 1","Autosomal Dominant","Craniosynostosis, Type 2:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina 1:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~123101~-","MSX2"]
["MSX2","Foramina parietalia permagna","Parietal Foramina","Autosomal Dominant","Craniosynostosis, Type 2:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina 1:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~123101~-","MSX2"]
["MSX2","Parietal foramina with cleidocranial dysplasia","Parietal Foramina;Cleidocranial dysostosis","Autosomal Dominant","Craniosynostosis, Type 2:Autosomal Dominant$Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina 1:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Parietal Foramina:Autosomal Dominant$Parietal Foramina With Cleidocranial Dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1128~123101~-","MSX2"]
["MTF1","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~600172~-","MTF1"]
["MTFMT","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Combined oxidative phosphorylation deficiency 15:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123263[geneid]~-~611766~-","MTFMT"]
["MTFMT","Leigh syndrome and combined OXPHOS deficiency","Leigh's disease;Combined Oxidative Phosphorylation Deficiency","Autosomal Recessive","Combined oxidative phosphorylation deficiency 15:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123263[geneid]~-~611766~-","MTFMT"]
["MTFMT","Leigh syndrome and combined respiratory chain deficiency","Leigh's disease;Combined Oxidative Phosphorylation Deficiency","Autosomal Recessive","Combined oxidative phosphorylation deficiency 15:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123263[geneid]~-~611766~-","MTFMT"]
["MTHFD1","Megaloblastic anaemia & atypical haemolytic uraemic syndrome","Megaloblastic anemia;Atypical hemolytic uremic syndrome","Autosomal Recessive","Placental abruption:Risk$Spina Bifida, Folate-Sensitive:Risk$Spina Bifida:Risk","Placental abruption:Risk$Spina Bifida:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4522[geneid]~-~172460~-","MTHFD1"]
["MTHFD1","Neural tube defect","Neural tube defect","Autosomal Recessive","Placental abruption:Risk$Spina Bifida, Folate-Sensitive:Risk$Spina Bifida:Risk","Placental abruption:Risk$Spina Bifida:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4522[geneid]~-~172460~-","MTHFD1"]
["MTHFR","Ehlers-Danlos syndrome IV","Ehlers-Danlos syndrome, type 4","Autosomal Recessive","Homocystinuria:Autosomal Recessive","Homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4524[geneid]~-~607093~-","MTHFR"]
["MTHFR","Homocystinuria","Homocystinuria","Autosomal Recessive","Homocystinuria:Autosomal Recessive","Homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4524[geneid]~-~607093~-","MTHFR"]
["MTHFR","Hyperhomocysteinaemia","Hyperhomocysteinemia","Autosomal Recessive","Homocystinuria:Autosomal Recessive","Homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4524[geneid]~-~607093~-","MTHFR"]
["MTHFR","Methylenetetrahydrofolate reductase deficiency","5,10-Methylenetetrahydrofolate reductase deficiency","Autosomal Recessive","Homocystinuria:Autosomal Recessive","Homocystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4524[geneid]~-~607093~-","MTHFR"]
["MTHFS","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604197~-","MTHFS"]
["MTM1","Myotubular myopathy","Myotubular myopathy","X-linked Recessive","Severe X-linked myotubular myopathy:X-linked Recessive$Myotubular myopathy:X-linked Recessive","Myotubular myopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4534[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1432~300415~-","MTM1"]
["MTM1","Myotubular myopathy, X-linked","Myotubular myopathy","X-linked Recessive","Severe X-linked myotubular myopathy:X-linked Recessive$Myotubular myopathy:X-linked Recessive","Myotubular myopathy:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4534[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1432~300415~-","MTM1"]
["MTMR12","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606501~-","MTMR12"]
["MTMR14","Myopathy, centronuclear","Centronuclear myopathy","Modifier","Myotubular myopathy:Modifier$Centronuclear myopathy:Modifier","Myotubular myopathy:Modifier","HIGH","-~-~611089~-","MTMR14"]
["MTMR15","Karyomegalic interstitial nephritis","Interstitial nephritis","Autosomal Recessive","Interstitial nephritis:Autosomal Recessive","Interstitial nephritis:Autosomal Recessive","HIGH","-~-~613534~-","FAN1"]
["MTMR2","Autism","Autistic Disorder","Risk","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B1:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8898[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~603557~-","MTMR2"]
["MTMR2","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B1:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8898[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~603557~-","MTMR2"]
["MTMR2","Charcot-Marie-Tooth disease 4b","Charcot-Marie-Tooth disease, Type 4B1","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B1:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8898[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~603557~-","MTMR2"]
["MTMR2","Congenital hypomyelinating neuropathy","Congenital hypomyelinating neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B1:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8898[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~603557~-","MTMR2"]
["MTMR2","Demyelinating neuropathy","Peripheral demyelinating neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B1:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8898[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~603557~-","MTMR2"]
["MTMR2","Demyelinating neuropathy","Peripheral demyelinating neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B1:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8898[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~603557~-","MTMR2"]
["MTMR2","Hereditary motor & sensory neuropathy","Hereditary motor and sensory neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B1:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8898[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~603557~-","MTMR2"]
["MTMR8","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","MTMR8"]
["MTMR9","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~606260~-","MTMR9"]
["MTMR9","Obesity","Obesity","Risk",null,null,"HIGH","-~-~606260~-","MTMR9"]
["MTNR1A","Altered receptor function","NULL","No significant association PMID 20657642","NULL","NULL","HIGH","-~-~600665~-","MTNR1A"]
["MTNR1A","Altered receptor function","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~600665~-","MTNR1A"]
["MTNR1A","Attention deficit hyperactivity disorder","Attention deficit hyperactivity disorder","Risk","Attention deficit hyperactivity disorder:Risk$Sleep-wake schedule disorder:Risk","Attention deficit hyperactivity disorder:Risk$Sleep-wake schedule disorder:Risk","HIGH","-~-~600665~-","MTNR1A"]
["MTNR1A","Impaired cell surface expression","NULL","No significant association PMID 20657642","NULL","NULL","HIGH","-~-~600665~-","MTNR1A"]
["MTNR1A","Impaired cell surface expression","NULL","No particular disorder mentioned","NULL","NULL","HIGH","-~-~600665~-","MTNR1A"]
["MTNR1A","Receptor variant","Sleep-wake schedule disorder","Risk","Attention deficit hyperactivity disorder:Risk$Sleep-wake schedule disorder:Risk","Attention deficit hyperactivity disorder:Risk$Sleep-wake schedule disorder:Risk","HIGH","-~-~600665~-","MTNR1A"]
["MTNR1B","Altered receptor function","Diabetes mellitus type 2","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~600804~-","MTNR1B"]
["MTNR1B","Diabetes, type 2","Diabetes mellitus type 2","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~600804~-","MTNR1B"]
["MTNR1B","Impaired Gi protein-dependent signalling","Diabetes mellitus type 2","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~600804~-","MTNR1B"]
["MTO1","Combined Oxidative Phosphorylation Deficiency","Combined Oxidative Phosphorylation Deficiency","Autosomal Recessive","Combined oxidative phosphorylation deficiency 10:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25821[geneid]~-~614667~-","MTO1"]
["MTO1","Hypertrophic cardiomyopathy & lactic acidosis","Hypertrophic cardiomyopathy;Lactic acidosis","Autosomal Recessive","Combined oxidative phosphorylation deficiency 10:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25821[geneid]~-~614667~-","MTO1"]
["MTPAP","Spastic ataxia","Spastic Ataxia","Autosomal Recessive","Spastic Ataxia:Autosomal Recessive","Spastic Ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55149[geneid]~-~613669~-","MTPAP"]
["MTR","Homocystinuria","Homocystinuria","Autosomal Recessive","Methylcobalamin Deficiency, CblG Type:Autosomal Recessive","Methylcobalamin Deficiency, CblG Type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4548[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~156570~-","MTR"]
["MTR","Methionine synthase deficiency","Methylcobalamin Deficiency, CblG Type","Autosomal Recessive","Methylcobalamin Deficiency, CblG Type:Autosomal Recessive","Methylcobalamin Deficiency, CblG Type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4548[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~156570~-","MTR"]
["MTRR","Homocystinuria","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type","Autosomal Recessive","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type:Autosomal Recessive","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4552[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~602568~-","MTRR"]
["MTRR","Homocystinuria, cblE type","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type","Autosomal Recessive","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type:Autosomal Recessive","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4552[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~602568~-","MTRR"]
["MTRR","Methionine synthase reductase deficiency","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type","Autosomal Recessive","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type:Autosomal Recessive","Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4552[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1328~602568~-","MTRR"]
["MTTP","Abetalipoproteinaemia","Abetalipoproteinemia","Autosomal Recessive","Abetalipoproteinemia:Autosomal Recessive","Abetalipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4547[geneid]~-~157147~-","MTTP"]
["MTTP","Microsomal triglyceride transfer protein deficiency, mild","Abetalipoproteinemia, mild","Autosomal Dominant","Abetalipoproteinemia:Autosomal Recessive","Abetalipoproteinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4547[geneid]~-~157147~-","MTTP"]
["MTX1","Parkinson disease, GBA-associated, modifier of","Parkinson's disease","Modifier",null,null,"HIGH","-~-~600605~-","MTX1"]
["MUC1","Autism spectrum disorder","Autistic Disorder","Risk","Medullary cystic kidney disease type 1:Autosomal Dominant$Medullary cystic kidney disease:Autosomal Dominant","Medullary cystic kidney disease:Autosomal Dominant","HIGH","-~-~158340~-","MUC1"]
["MURC","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347273[geneid]~-~-~-","MURC"]
["MUSK","Congenital myasthenic syndrome","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency","Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Congenital Myasthenic Syndrome:Autosomal Recessive","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency:Autosomal Recessive$Congenital Myasthenic Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4593[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~601296~-","MUSK"]
["MUT","Methylmalonic aciduria","Methylmalonic Aciduria, mut(0) Type","Autosomal Recessive","Methylmalonic Aciduria, mut(0) Type:Autosomal Recessive$Methylmalonic acidemia:Autosomal Recessive","Methylmalonic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4594[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1231~609058~-","MUT"]
["MUTYH","Adenomatous polyposis coli","Colorectal Adenomatous Polyposis, Autosomal Recessive","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Adenomatous polyposis coli, attenuated","Adenomatous Polyposis Coli, Attenuated","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Adenomatous polyposis, attenuated/Muir-Torre synd","Adenomatous Polyposis Coli, Attenuated","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Adenomatous polyposis, attenuated/Muir-Torre synd","Muir-Torr? syndrome","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Colon cancer","Malignant tumor of colon","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Colorectal adenoma","Adenoma of large intestine","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Colorectal cancer","Colorectal Cancer","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Gastric cancer","Malignant tumor of stomach","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","Multiple colorectal adenomas","Colorectal Adenomatous Polyposis, Autosomal Recessive","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MUTYH","MYH polyposis","MYH-associated polyposis","Autosomal Recessive","Colorectal Adenomatous Polyposis, Autosomal Recessive:Autosomal Recessive$Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","Adenomatous polyposis coli:Autosomal Recessive$Malignant neoplasm of stomach:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK107219~604933~-","MUTYH"]
["MVK","Disseminated superficial actinic porokeratosis","Disseminated superficial actinic porokeratosis","Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Hyper-IgD Syndrome:Autosomal Recessive$Deficiency of mevalonate kinase:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Porokeratosis, Disseminated Superficial Actinic, 3:Autosomal Dominant$Disseminated superficial actinic porokeratosis:Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4598[geneid]~-~251170~-","MVK"]
["MVK","Hyperimmunoglobulin D and periodic fever syndrome","Hyper-IgD periodic fever syndrome","Autosomal Recessive","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Hyper-IgD Syndrome:Autosomal Recessive$Deficiency of mevalonate kinase:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Porokeratosis, Disseminated Superficial Actinic, 3:Autosomal Dominant$Disseminated superficial actinic porokeratosis:Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4598[geneid]~-~251170~-","MVK"]
["MVK","Hyperimmunoglobulin D syndrome","Hyper-IgD periodic fever syndrome","Autosomal Recessive","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Hyper-IgD Syndrome:Autosomal Recessive$Deficiency of mevalonate kinase:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Porokeratosis, Disseminated Superficial Actinic, 3:Autosomal Dominant$Disseminated superficial actinic porokeratosis:Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4598[geneid]~-~251170~-","MVK"]
["MVK","Mevalonic aciduria","Deficiency of mevalonate kinase","Autosomal Recessive","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Hyper-IgD Syndrome:Autosomal Recessive$Deficiency of mevalonate kinase:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Porokeratosis, Disseminated Superficial Actinic, 3:Autosomal Dominant$Disseminated superficial actinic porokeratosis:Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4598[geneid]~-~251170~-","MVK"]
["MVK","Mevalonic kinase deficiency","Deficiency of mevalonate kinase","Autosomal Recessive","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Hyper-IgD Syndrome:Autosomal Recessive$Deficiency of mevalonate kinase:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Porokeratosis, Disseminated Superficial Actinic, 3:Autosomal Dominant$Disseminated superficial actinic porokeratosis:Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4598[geneid]~-~251170~-","MVK"]
["MVK","PFAPA syndrome","PFAPA syndrome","Autosomal Recessive","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Hyper-IgD Syndrome:Autosomal Recessive$Deficiency of mevalonate kinase:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Porokeratosis, Disseminated Superficial Actinic, 3:Autosomal Dominant$Disseminated superficial actinic porokeratosis:Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4598[geneid]~-~251170~-","MVK"]
["MVK","Porokeratosis, Disseminated Superficial Actinic, 3","Porokeratosis, Disseminated Superficial Actinic, 3","Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Hyper-IgD Syndrome:Autosomal Recessive$Deficiency of mevalonate kinase:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Porokeratosis, Disseminated Superficial Actinic, 3:Autosomal Dominant$Disseminated superficial actinic porokeratosis:Autosomal Dominant","Hyper-IgD periodic fever syndrome:Autosomal Recessive$Mevalonic aciduria:Autosomal Recessive$Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4598[geneid]~-~251170~-","MVK"]
["MX1","Alopecia areata","Alopecia areata","Risk","Alopecia areata:Risk$Disorder of nervous system due to West Nile virus:Risk$Multiple sclerosis:Risk$Subacute sclerosing panencephalitis:Risk","Alopecia areata:Risk$Disorder of nervous system due to West Nile virus:Risk$Multiple sclerosis:Risk$Subacute sclerosing panencephalitis:Risk","HIGH","-~-~147150~-","MX1"]
["MX1","Disease due to West Nile virus","Disorder of nervous system due to West Nile virus","Modifier","Alopecia areata:Risk$Disorder of nervous system due to West Nile virus:Risk$Multiple sclerosis:Risk$Subacute sclerosing panencephalitis:Risk","Alopecia areata:Risk$Disorder of nervous system due to West Nile virus:Risk$Multiple sclerosis:Risk$Subacute sclerosing panencephalitis:Risk","HIGH","-~-~147150~-","MX1"]
["MX1","Increased expression","Multiple sclerosis","Modifier","Alopecia areata:Risk$Disorder of nervous system due to West Nile virus:Risk$Multiple sclerosis:Risk$Subacute sclerosing panencephalitis:Risk","Alopecia areata:Risk$Disorder of nervous system due to West Nile virus:Risk$Multiple sclerosis:Risk$Subacute sclerosing panencephalitis:Risk","HIGH","-~-~147150~-","MX1"]
["MXRA5","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","MXRA5"]
["MYB","Autism","Autistic Disorder","Risk","T-cell acute lymphoblastic leukemia:Risk","T-cell acute lymphoblastic leukemia:Risk","HIGH","-~-~189990~-","MYB"]
["MYB","Increased foetal haemoglobin levels","Haemoglobin F level","Modifier","T-cell acute lymphoblastic leukemia:Risk","T-cell acute lymphoblastic leukemia:Risk","HIGH","-~-~189990~-","MYB"]
["MYB","T-cell acute lymphoblastic leukemia","T-cell acute lymphoblastic leukemia","Risk","T-cell acute lymphoblastic leukemia:Risk","T-cell acute lymphoblastic leukemia:Risk","HIGH","-~-~189990~-","MYB"]
["MYBBP1A","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604885~-","MYBBP1A"]
["MYBPC1","Distal arthrogryposis type I","Arthrogryposis multiplex congenita, distal type 1","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Lethal congenital contracture syndrome 4:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","Distal arthrogryposis syndrome:Autosomal Dominant$Contracture of multiple joints:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4604[geneid]~-~160794~-","MYBPC1"]
["MYBPC1","Lethal congenital contractural syndrome 4","Lethal Congenital Contractural Syndrome","Autosomal Recessive","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Lethal congenital contracture syndrome 4:Autosomal Recessive$Contracture of multiple joints:Autosomal Recessive","Distal arthrogryposis syndrome:Autosomal Dominant$Contracture of multiple joints:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4604[geneid]~-~160794~-","MYBPC1"]
["MYBPC3","Cardiomyopathy","Cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600958~-","MYBPC3"]
["MYBPC3","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600958~-","MYBPC3"]
["MYBPC3","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600958~-","MYBPC3"]
["MYBPC3","Cardiomyopathy, left ventricular noncompaction","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600958~-","MYBPC3"]
["MYBPC3","Increased left ventricular wall thickness","Left ventricular segmental wall thickness","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600958~-","MYBPC3"]
["MYBPC3","Lethal Congenital Contracture Syndrome 2","Lethal Congenital Contracture Syndrome 2","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600958~-","MYBPC3"]
["MYBPC3","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 4:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Recessive$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~600958~-","MYBPC3"]
["MYC","Burkitt's lymphoma","Burkitt's lymphoma","Autosomal Recessive","Burkitt's lymphoma:Chromosomal translocations involving the MYC gene (8q24) and the lambda(22q) or the kappa (2p) light chain or heavy chain (14q32) immunoglobulin genes","Burkitt's lymphoma:Chromosomal translocations involving the MYC gene (8q24) and the lambda(22q) or the kappa (2p) light chain or heavy chain (14q32) immunoglobulin genes","HIGH","-~-~190080~-","MYC"]
["MYC","Reduced expression","NULL","No disease association PMID 11332400","NULL","NULL","HIGH","-~-~190080~-","MYC"]
["MYCBP2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610392~-","MYCBP2"]
["MYCN","Feingold syndrome","Oculodigitoesophagoduodenal syndrome","Autosomal Dominant","Feingold syndrome:Autosomal Dominant$Oculodigitoesophagoduodenal syndrome:Autosomal Dominant","Oculodigitoesophagoduodenal syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4613[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7050~164840~-","MYCN"]
["MYD88","MYD88 deficiency","MYD88 Deficiency","Autosomal Recessive","Waldenstrom's macroglobulinemia:Autosomal Dominant$MYD88 deficiency:Autosomal Dominant$MYD88 deficiency:Autosomal Recessive","Waldenstrom's macroglobulinemia:Autosomal Dominant$MYD88 deficiency:Autosomal Dominant$MYD88 deficiency:Autosomal Recessive","HIGH","-~-~602170~-","MYD88"]
["MYD88","Reduced function","MYD88 Deficiency","Autosomal Dominant","Waldenstrom's macroglobulinemia:Autosomal Dominant$MYD88 deficiency:Autosomal Dominant$MYD88 deficiency:Autosomal Recessive","Waldenstrom's macroglobulinemia:Autosomal Dominant$MYD88 deficiency:Autosomal Dominant$MYD88 deficiency:Autosomal Recessive","HIGH","-~-~602170~-","MYD88"]
["MYF6","Elevated creatine kinase levels","Centronuclear myopathy","Autosomal Dominant","Centronuclear myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant","Myotubular myopathy:Autosomal Dominant","HIGH","-~-~159991~-","MYF6"]
["MYF6","Myopathy, dilatative","Centronuclear myopathy","Autosomal Dominant","Centronuclear myopathy:Autosomal Dominant$Myotubular myopathy:Autosomal Dominant","Myotubular myopathy:Autosomal Dominant","HIGH","-~-~159991~-","MYF6"]
["MYH11","Altered myosin contractile function","NULL","in vitro study, no association with disease PMID 22511748","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~160745~-","MYH11"]
["MYH11","Aortic aneurysm","Aortic aneurysm, familial thoracic 4","Autosomal Dominant","Aortic aneurysm, familial thoracic 4:Autosomal Dominant$Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~160745~-","MYH11"]
["MYH11","Aortic aneurysm, familial thoracic 4","Aortic aneurysm, familial thoracic 4","Autosomal Dominant","Aortic aneurysm, familial thoracic 4:Autosomal Dominant$Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~160745~-","MYH11"]
["MYH11","Thoracic aortic aneurysm","Aneurysm of thoracic aorta","Autosomal Dominant","Aortic aneurysm, familial thoracic 4:Autosomal Dominant$Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~160745~-","MYH11"]
["MYH11","Thoracic aortic aneurysm and patent ductus arteriosus","Aortic aneurysm, familial thoracic 4;Patent ductus arteriosus","Autosomal Dominant","Aortic aneurysm, familial thoracic 4:Autosomal Dominant$Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~160745~-","MYH11"]
["MYH11","Thoracic aortic aneurysms and dissections","Aneurysm of thoracic aorta","Autosomal Dominant","Aortic aneurysm, familial thoracic 4:Autosomal Dominant$Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~160745~-","MYH11"]
["MYH11","Thoracic aortic aneurysms and dissections and patent ductus arteriosus","Aortic aneurysm, familial thoracic 4;Patent ductus arteriosus","Autosomal Dominant","Aortic aneurysm, familial thoracic 4:Autosomal Dominant$Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4629[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120~160745~-","MYH11"]
["MYH14","Hearing impairment","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 4:Autosomal Dominant$Deafness:Autosomal Dominant$Peripheral neuropathy, myopathy, hoarseness, and hearing loss:Autosomal Dominant","Deafness:Autosomal Dominant$Peripheral neuropathy, myopathy, hoarseness, and hearing loss:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79784[geneid]~-~608568~-","MYH14"]
["MYH14","Hearing loss, non-syndromic, Autosomal Dominant","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 4:Autosomal Dominant$Deafness:Autosomal Dominant$Peripheral neuropathy, myopathy, hoarseness, and hearing loss:Autosomal Dominant","Deafness:Autosomal Dominant$Peripheral neuropathy, myopathy, hoarseness, and hearing loss:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79784[geneid]~-~608568~-","MYH14"]
["MYH14","Peripheral neuropathy, myopathy, and hearing loss","Peripheral nerve disease;Myopathy;Deafness;Hoarseness","Autosomal Dominant","Deafness, Autosomal Dominant 4:Autosomal Dominant$Deafness:Autosomal Dominant$Peripheral neuropathy, myopathy, hoarseness, and hearing loss:Autosomal Dominant","Deafness:Autosomal Dominant$Peripheral neuropathy, myopathy, hoarseness, and hearing loss:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79784[geneid]~-~608568~-","MYH14"]
["MYH2","Inclusion body myopathy","Inclusion body myopathy, Autosomal Dominant","Autosomal Dominant","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","HIGH","-~-~160740~-","MYH2"]
["MYH2","Inclusion body myositis","Inclusion body myositis","Autosomal Dominant","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","HIGH","-~-~160740~-","MYH2"]
["MYH2","Myopathy with external ophthalmoplegia","Myopathy;External ophthalmoplegia","Autosomal Recessive","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","HIGH","-~-~160740~-","MYH2"]
["MYH2","Myopathy, early onset","Myopathy, mild","Autosomal Recessive","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","HIGH","-~-~160740~-","MYH2"]
["MYH2","Myopathy, MYH2-related","Myopathy","Autosomal Recessive","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","Inclusion body myopathy, Autosomal Dominant:Autosomal Dominant","HIGH","-~-~160740~-","MYH2"]
["MYH3","Arthrogryposis, distal 2B & myosin myopathy","Distal arthrogryposis type 2B;Myopathy, Myosin Storage","Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Whistling face syndrome:Autosomal Dominant$Arthrogryposis, distal, type 2A:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4621[geneid]~-~160720~-","MYH3"]
["MYH3","Arthrogryposis, distal, type 1","Arthrogryposis multiplex congenita, distal type 1","Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Whistling face syndrome:Autosomal Dominant$Arthrogryposis, distal, type 2A:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4621[geneid]~-~160720~-","MYH3"]
["MYH3","Arthrogryposis, distal, type 2A","Freeman-Sheldon syndrome","Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Whistling face syndrome:Autosomal Dominant$Arthrogryposis, distal, type 2A:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4621[geneid]~-~160720~-","MYH3"]
["MYH3","Arthrogryposis, distal, type 2B","Distal arthrogryposis type 2B","Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Whistling face syndrome:Autosomal Dominant$Arthrogryposis, distal, type 2A:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant","Freeman-Sheldon syndrome:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4621[geneid]~-~160720~-","MYH3"]
["MYH6","Atrial septal defect","Atrial Septal Defect 3","Autosomal Dominant","Atrial Septal Defect 3:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1EE:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 14:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~160710~-","MYH6"]
["MYH6","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Atrial Septal Defect 3:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1EE:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 14:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~160710~-","MYH6"]
["MYH6","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Atrial Septal Defect 3:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1EE:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 14:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~160710~-","MYH6"]
["MYH6","Congenital heart defects","Congenital anomaly of heart","Autosomal Dominant","Atrial Septal Defect 3:Autosomal Dominant$Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1EE:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 14:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~160710~-","MYH6"]
["MYH7","Cardiomyopathy","Cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Cardiomyopathy & distal myopathy","Cardiomyopathy;Distal muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1S","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 1","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Cardiomyopathy, hypertrophic/dilated","Cardiomyopathy, Familial Hypertrophic, 1;Cardiomyopathy, Dilated, 1S","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Cardiomyopathy, non-compaction","Ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Cardiomyopathy, non-compaction, left ventricular","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Cardiomyopathy, restrictive","Primary restrictive cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Distal myopathy, Laing","Laing Distal Myopathy;Welander Distal Myopathy;Gower's muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Ebstein anomaly","Ebstein's anomaly of tricuspid valve","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Hyaline body myopathy","Myopathy, Myosin Storage","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Increased left ventricular wall thickness","Left ventricular segmental wall thickness","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Myopathy, distal 1","Laing Distal Myopathy;Welander Distal Myopathy;Gower's muscular dystrophy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Myosin storage myopathy","Myopathy, Myosin Storage","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH7","Skeletal myopathy without cardiac involvement","Skeletal myopathy;Myopathy, Myosin Storage","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1S:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 1:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Laing Distal Myopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant$Myopathy, Myosin Storage:Autosomal Dominant$Scapuloperoneal myopathy:Autosomal Dominant$Scapuloperoneal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4625[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1433$http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1309~160760~-","MYH7"]
["MYH8","Cardiac myxoma and distal arthrogryposis","Myxoma of heart;Distal arthrogryposis syndrome;Carney Complex Variant","Autosomal Dominant","Carney Complex Variant:Autosomal Dominant$Trismus-pseudocamptodactyly syndrome:Autosomal Dominant$Hecht syndrome:Autosomal Dominant","Carney Complex Variant:Autosomal Dominant$Hecht syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4626[geneid]~-~160741~-","MYH8"]
["MYH8","Hecht syndrome","Hecht syndrome","Autosomal Dominant","Carney Complex Variant:Autosomal Dominant$Trismus-pseudocamptodactyly syndrome:Autosomal Dominant$Hecht syndrome:Autosomal Dominant","Carney Complex Variant:Autosomal Dominant$Hecht syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4626[geneid]~-~160741~-","MYH8"]
["MYH9","Alport syndrome with macrothrombocytopaenia","Fechtner syndrome","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Autism","Autistic Disorder","Risk","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Deafness, Autosomal Dominant 17","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Epstein syndrome","Epstein syndrome","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Epstein/Fechtner syndrome","Epstein syndrome;Fechtner syndrome","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Fechtner syndrome","Fechtner syndrome","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Macrothrombocytopaenia with leukocyte inclusions","May-Hegglin anomaly","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Macrothrombocytopaenia without leukocyte inclusion","Epstein syndrome","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","May-Hegglin anomaly","May-Hegglin anomaly","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","May-Hegglin anomaly/Sebastian syndrome","May-Hegglin anomaly;Sebastian syndrome","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","MYH9 related disease","Epstein syndrome;Fechtner syndrome;Sebastian syndrome;May-Hegglin anomaly;Deafness","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYH9","Sebastian syndrome","Sebastian syndrome","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 17:Autosomal Dominant$Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","Deafness:Autosomal Dominant$Epstein syndrome:Autosomal Dominant$Fechtner syndrome:Autosomal Dominant$Macrothrombocytopenia progressive deafness:Autosomal Dominant$May-Hegglin anomaly:Autosomal Dominant$Sebastian syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4627[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2689~160775~-","MYH9"]
["MYL2","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 10","Autosomal Dominant","Cardiomyopathy, Familial Hypertrophic, 10:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant","Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4633[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~160781~-","MYL2"]
["MYL2","Cardiomyopathy, restrictive","Restrictive cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Familial Hypertrophic, 10:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant","Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4633[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~160781~-","MYL2"]
["MYL3","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 8","Autosomal Dominant","Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Recessive$Hypertrophic Cardiomyopathy:Autosomal Recessive","Hypertrophic Cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~160790~-","MYL3"]
["MYL3","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 8","Autosomal Recessive","Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Recessive$Hypertrophic Cardiomyopathy:Autosomal Recessive","Hypertrophic Cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~160790~-","MYL3"]
["MYL3","Cardiomyopathy, restrictive","Restrictive cardiomyopathy","Autosomal Recessive","Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Recessive$Hypertrophic Cardiomyopathy:Autosomal Recessive","Hypertrophic Cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~160790~-","MYL3"]
["MYL3","Increased left ventricular wall thickness","Left ventricular segmental wall thickness","Autosomal Dominant","Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 8:Autosomal Recessive$Hypertrophic Cardiomyopathy:Autosomal Recessive","Hypertrophic Cardiomyopathy:Autosomal Dominant$Hypertrophic Cardiomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4634[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~160790~-","MYL3"]
["MYLK","Aortic dissections","Aneurysm of thoracic aorta","Autosomal Dominant","Aneurysm of thoracic aorta:Autosomal Dominant","Aneurysm of thoracic aorta:Autosomal Dominant","HIGH","-~-~-~-","MLCK"]
["MYLK2","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Hypertrophic Cardiomyopathy:Autosomal Dominant","Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=85366[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~606566~-","MYLK2"]
["MYO15A","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 3:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51168[geneid]~-~602666~-","MYO15A"]
["MYO15A","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 3:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51168[geneid]~-~602666~-","MYO15A"]
["MYO15A","Hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 3:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51168[geneid]~-~602666~-","MYO15A"]
["MYO15A","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 3:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51168[geneid]~-~602666~-","MYO15A"]
["MYO15A","Hearing loss, non-syndromic sensorineural","Sensorineural hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 3:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51168[geneid]~-~602666~-","MYO15A"]
["MYO15A","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 3:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51168[geneid]~-~602666~-","MYO15A"]
["MYO15A","Sensorineural deafness in SMS","Sensorineural hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 3:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51168[geneid]~-~602666~-","MYO15A"]
["MYO1A","Sensorineural deafness, nonsyndromic","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 48:Autosomal Dominant$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4640[geneid]~-~601478~-","MYO1A"]
["MYO1C","Sensorineural hearing loss, bilateral","Sensorineural hearing loss, bilateral","Autosomal Dominant",null,null,"HIGH","-~-~606538~-","MYO1C"]
["MYO1E","Focal segmental glomerulosclerosis, childhood familial","Focal segmental glomerulosclerosis","Autosomal Recessive","Focal segmental glomerulosclerosis:Autosomal Recessive","Focal segmental glomerulosclerosis:Autosomal Recessive","HIGH","-~-~601479~-","MYO1E"]
["MYO1E","Nephrotic syndrome, steroid resistant","Steroid-resistant nephrotic syndrome","Autosomal Recessive","Focal segmental glomerulosclerosis:Autosomal Recessive","Focal segmental glomerulosclerosis:Autosomal Recessive","HIGH","-~-~601479~-","MYO1E"]
["MYO1F","Sensorineural hearing loss, bilateral","Sensorineural hearing loss, bilateral","Autosomal Dominant",null,null,"HIGH","-~-~601480~-","MYO1F"]
["MYO3A","Non-syndromic hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 30:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=53904[geneid]~-~606808~-","MYO3A"]
["MYO5A","Griscelli syndrome","Griscelli syndrome type 1","Autosomal Recessive","Griscelli syndrome type 1:Autosomal Recessive","Griscelli syndrome type 1:Autosomal Recessive","HIGH","-~-~160777~-","MYO5A"]
["MYO5B","Microvillus inclusion disease","Congenital microvillous atrophy","Autosomal Recessive","Microvillus inclusion disease:Autosomal Recessive$Congenital microvillous atrophy:Autosomal Recessive","Congenital microvillous atrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4645[geneid]~-~606540~-","MYO5B"]
["MYO6","Cardiomyopathy, hypertrophic with deafness","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 22:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 37:Autosomal Recessive$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646[geneid]~-~600970~-","MYO6"]
["MYO6","Deafness, Autosomal Dominant 22","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 22:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 37:Autosomal Recessive$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646[geneid]~-~600970~-","MYO6"]
["MYO6","Deafness, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant nonsyndromic sensorineural 22:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 37:Autosomal Recessive$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646[geneid]~-~600970~-","MYO6"]
["MYO6","Deafness, non-syndromic","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 22:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 37:Autosomal Recessive$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646[geneid]~-~600970~-","MYO6"]
["MYO6","Hearing loss","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 22:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 37:Autosomal Recessive$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646[geneid]~-~600970~-","MYO6"]
["MYO6","Hearing loss, Autosomal Dominant","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 22:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 37:Autosomal Recessive$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646[geneid]~-~600970~-","MYO6"]
["MYO6","Hearing loss, non-syndromic, Autosomal Dominant","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant nonsyndromic sensorineural 22:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 37:Autosomal Recessive$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Deafness, Sensorineural, with Hypertrophic Cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4646[geneid]~-~600970~-","MYO6"]
["MYO7A","Deafness, nonsyndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Deafness, non-syndromic, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Deafness, sensorineural non-syndromic 11","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Hearing loss, non-syndromic","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Retinitis pigmentosa, mild & deafness","Usher syndrome;Retinitis pigmentosa-deafness syndrome","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Usher syndrome","Usher syndrome;Retinitis pigmentosa-deafness syndrome","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Usher syndrome 1","Usher syndrome type 1","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Usher syndrome 1b","Usher syndrome, type 1B","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Usher syndrome 2","Usher syndrome type 2","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7A","Usher syndrome, atypical","Usher syndrome","Autosomal Recessive","Deafness, Autosomal Dominant 11:Autosomal Dominant$Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 2:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1B:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~276903~-","MYO7A"]
["MYO7B","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606541~-","MYO7B"]
["MYOC","Glaucoma 1, open angle","Primary open angle glaucoma","Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4653[geneid]~-~601652~-","MYOC"]
["MYOC","Glaucoma, narrow angle","Anatomical narrow angle glaucoma","Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4653[geneid]~-~601652~-","MYOC"]
["MYOC","Glaucoma, open angle, juvenile onset","Primary open angle glaucoma","Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4653[geneid]~-~601652~-","MYOC"]
["MYOC","Glaucoma, primary congenital","Primary congenital glaucoma","Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4653[geneid]~-~601652~-","MYOC"]
["MYOC","Glaucoma, primary open angle","Primary open angle glaucoma","Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","Primary open angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4653[geneid]~-~601652~-","MYOC"]
["MYOF","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~-~-","KIAA1207"]
["MYOM1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8736[geneid]~-~603508~-","MYOM1"]
["MYOT","Muscular dystrophy, limb girdle 1A","Muscular dystrophy, limb-girdle, type 1A","Autosomal Dominant","Muscular dystrophy, limb-girdle, type 1A:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9499[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~604103~-","MYOT"]
["MYOT","Myofibrillar myopathy","Myofibrillar myopathy","Autosomal Dominant","Muscular dystrophy, limb-girdle, type 1A:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9499[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~604103~-","MYOT"]
["MYOT","Myotilinopathy","Myotilinopathy","Autosomal Dominant","Muscular dystrophy, limb-girdle, type 1A:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9499[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~604103~-","MYOT"]
["MYOT","Spheroid body myopathy","Spheroid body myopathy","Autosomal Dominant","Muscular dystrophy, limb-girdle, type 1A:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","Limb-girdle muscular dystrophy:Autosomal Dominant$Myofibrillar myopathy:Autosomal Dominant$Myotilinopathy:Autosomal Dominant$Spheroid body myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9499[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1499~604103~-","MYOT"]
["MYOZ2","Cardiomyopathy, hypertrophic","Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Primary familial hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51778[geneid]~-~605602~-","MYOZ2"]
["MYPN","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Familial restrictive cardiomyopathy:Autosomal Dominant$Primary familial hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84665[geneid]~-~608517~-","MYPN"]
["MYPN","Cardiomyopathy, dilated / hypertrophic","Dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Familial restrictive cardiomyopathy:Autosomal Dominant$Primary familial hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84665[geneid]~-~608517~-","MYPN"]
["MYPN","Cardiomyopathy, hypertrophic","Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Familial restrictive cardiomyopathy:Autosomal Dominant$Primary familial hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84665[geneid]~-~608517~-","MYPN"]
["MYPN","Cardiomyopathy, restrictive","Restrictive cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Familial restrictive cardiomyopathy:Autosomal Dominant$Primary familial hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84665[geneid]~-~608517~-","MYPN"]
["MYST4","Genitopatellar syndrome","Genitopatellar Syndrome","Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23522[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114806~605880~-","KAT6B"]
["MYST4","Ohdo blepharophimosis syndrome","Ohdo blepharophimosis syndrome","Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","Genitopatellar Syndrome:Autosomal Dominant$Young Simpson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23522[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114806~605880~-","KAT6B"]
["MYT1L","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~613084~-","MYT1L"]
["NAA10","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","N-terminal acetyltransferase deficiency:X-linked Recessive","N-terminal acetyltransferase deficiency:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8260[geneid]~-~300013~-","NAA10"]
["NAA15","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~608000~-","NAA15"]
["NAG","Short stature, optic atrophy & Pelger-Huet","Short stature disorder;Optic atrophy;Pelger-Huet anomaly","Autosomal Recessive","Short stature, optic nerve atrophy, and Pelger-Huet anomaly:Autosomal Recessive","Short stature, optic nerve atrophy, and Pelger-Huet anomaly:Autosomal Recessive","HIGH","-~-~608025~-","NBAS"]
["NAGA","N-acetylgalactosaminidase alpha deficiency","Kanzaki disease","Autosomal Recessive","Alpha-N-acetylgalactosaminidase deficiency:Autosomal Recessive$Kanzaki disease:Autosomal Recessive$Schindler disease, type 1:Autosomal Recessive$Schindler disease, type III:Autosomal Recessive","Alpha-N-acetylgalactosaminidase deficiency:Autosomal Recessive$Kanzaki disease:Autosomal Recessive","HIGH","-~-~104170~-","NAGA"]
["NAGA","Neuroaxonal dystrophy, infantile","Schindler disease, type 1;Alpha-N-Acetylgalactosaminidase Deficiency, Type III","Autosomal Recessive","Alpha-N-acetylgalactosaminidase deficiency:Autosomal Recessive$Kanzaki disease:Autosomal Recessive$Schindler disease, type 1:Autosomal Recessive$Schindler disease, type III:Autosomal Recessive","Alpha-N-acetylgalactosaminidase deficiency:Autosomal Recessive$Kanzaki disease:Autosomal Recessive","HIGH","-~-~104170~-","NAGA"]
["NAGLU","Sanfilippo syndrome B","Mucopolysaccharidosis, MPS-III-B","Autosomal Recessive","Mucopolysaccharidosis, MPS-III-B:Autosomal Recessive$Sanfilippo Syndrome B:Autosomal Recessive$N-Acetyl-alpha-D-Glucosaminidase Deficiency:Autosomal Recessive","Mucopolysaccharidosis, MPS-III-B:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4669[geneid]~-~609701~-","NAGLU"]
["NAGPA","Stuttering","Stuttering","Risk","Stuttering:Risk","Stuttering:Risk","HIGH","-~-~607985~-","NAGPA"]
["NAGS","Hyperammonaemia, carbamylglutamate responsive","Hyperammonemia, type III","Autosomal Recessive","Hyperammonemia, type III:Autosomal Recessive$N-acetyl glutamate synthetase deficiency:Autosomal Recessive$Hyperammonemia:Autosomal Recessive","Hyperammonemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=162417[geneid]~-~608300~-","NAGS"]
["NAGS","N-acetylglutamate synthase deficiency","Hyperammonemia, type III","Autosomal Recessive","Hyperammonemia, type III:Autosomal Recessive$N-acetyl glutamate synthetase deficiency:Autosomal Recessive$Hyperammonemia:Autosomal Recessive","Hyperammonemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=162417[geneid]~-~608300~-","NAGS"]
["NAMPT","Reduced expression","NULL","No disease associated PMID 16636125","NULL","NULL","HIGH","-~-~608764~-","NAMPT"]
["NAMPT","Reduced expression","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~608764~-","NAMPT"]
["NANOS1","Azoospermia","Azoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~608226~-","NANOS1"]
["NANOS1","Oligo-astheno-teratozoospermia","Oligoasthenozoospermia;Teratozoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~608226~-","NANOS1"]
["NAPRT1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611552~-","NAPRT1"]
["NAT1","Increased activity","NULL","Risk control behavior: cancer - Modifier",null,null,"HIGH","-~-~602325~-","EIF4G2"]
["NAT1","Slow acetylation","Risk control behavior: cancer","Modifier",null,null,"HIGH","-~-~602325~-","EIF4G2"]
["NAT2","Slow acetylation","Drug Response","Pharmacogenetic","Slow acetylation:Autosomal Recessive","Slow acetylation:Autosomal Recessive","HIGH","-~-~612182~-","NAT2"]
["NAT8L","Hypoacetylaspartia","Hypoacetylaspartia","Autosomal Recessive","N-acetylaspartate deficiency:Autosomal Recessive$Hypoacetylaspartia:Autosomal Recessive","Hypoacetylaspartia:Autosomal Recessive","HIGH","-~-~610647~-","NAT8L"]
["NAV1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611628~-","NAV1"]
["NAV2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607026~-","NAV2"]
["NBEAL2","Grey platelet syndrome","Gray platelet syndrome","Autosomal Recessive","Gray platelet syndrome:Autosomal Recessive","Gray platelet syndrome:Autosomal Recessive","HIGH","-~-~614169~-","NBEAL2"]
["NBN","Acute lymphoblastic leukaemia","Acute lymphoid leukemia","Autosomal Dominant","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive$Nijmegen Breakage Syndrome:Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1176~603886~-","ARTN"]
["NBN","Breast cancer","Malignant tumor of breast","Risk","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive$Nijmegen Breakage Syndrome:Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1176~603886~-","ARTN"]
["NBN","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive$Nijmegen Breakage Syndrome:Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1176~603886~-","ARTN"]
["NBN","Fertility defects","Infertility","Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive$Nijmegen Breakage Syndrome:Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1176~603886~-","ARTN"]
["NBN","Melanoma","Melanoma","Risk","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive$Nijmegen Breakage Syndrome:Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1176~603886~-","ARTN"]
["NBN","Nijmegen breakage syndrome","Microcephaly, normal intelligence and immunodeficiency","Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive$Nijmegen Breakage Syndrome:Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1176~603886~-","ARTN"]
["NBN","Prostate cancer, susceptibility to","Malignant tumor of prostate","Risk","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive$Nijmegen Breakage Syndrome:Autosomal Recessive","Aplastic anemia:Autosomal Dominant$Acute lymphoid leukemia, disease:Autosomal Dominant$Microcephaly, normal intelligence and immunodeficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1176~603886~-","NBN"]
["NCAPD2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9918[geneid]~-~-~-","NCAPD2"]
["NCF1","Chronic granulomatous disease","Chronic granulomatous disease, type I","Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive$Chronic granulomatous disease, type I:Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=653361[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~608512~-","NCF1"]
["NCF1","Reduced reactive oxygen species production","Rheumatoid arthritis","Risk","Chronic granulomatous disease:Autosomal Recessive$Chronic granulomatous disease, type I:Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=653361[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~608512~-","NCF1"]
["NCF2","Chronic granulomatous disease","Chronic granulomatous disease, type II","Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive$Chronic granulomatous disease, type I:Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4688[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~608515~-","NCF2"]
["NCF4","Chronic granulomatous disease","Chronic granulomatous disease, type III","Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive$Chronic granulomatous disease, type III:Autosomal Recessive","Chronic granulomatous disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4689[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99496~601488~-","NCF4"]
["NCKAP1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604891~-","NCKAP1"]
["NCOA1","Altered tamoxifen response","Bone Demineralization post Tamoxifen Treatment","Risk",null,null,"HIGH","-~-~602691~-","NCOA1"]
["NCSTN","Acne inversa, familial","Hidradenitis suppurativa, familial","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Hidradenitis suppurativa:Autosomal Dominant","Hidradenitis suppurativa:Autosomal Dominant","HIGH","-~-~605254~-","NCSTN"]
["NCSTN","Hidradenitis suppurativa","Hidradenitis suppurativa, familial","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Hidradenitis suppurativa:Autosomal Dominant","Hidradenitis suppurativa:Autosomal Dominant","HIGH","-~-~605254~-","NCSTN"]
["NDE1","Microcephaly with lissencephaly","Lissencephaly 4","Autosomal Recessive","Lissencephaly 4:Autosomal Recessive$Lissencephaly:Autosomal Recessive","Lissencephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54820[geneid]~-~609449~-","NDE1"]
["NDE1","Microcephaly with microlissencephaly","Lissencephaly 4","Autosomal Recessive","Lissencephaly 4:Autosomal Recessive$Lissencephaly:Autosomal Recessive","Lissencephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54820[geneid]~-~609449~-","NDE1"]
["NDE1","Microcephaly, agenesis of the corpus callosum, scalp rugae & foetal brain disruption","Lissencephaly 4","Autosomal Recessive","Lissencephaly 4:Autosomal Recessive$Lissencephaly:Autosomal Recessive","Lissencephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54820[geneid]~-~609449~-","NDE1"]
["NDP","Bilateral persistant fetal vasculature","Persistent primary vitreous","X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Exudative Vitreoretinopathy, Familial, X-linked Recessive:X-linked Recessive$Norrie disease:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4693[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1331~300658~-","NDP"]
["NDP","Exudative vitreoretinopathy","Exudative Vitreoretinopathy, Familial, X-linked Recessive","X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Exudative Vitreoretinopathy, Familial, X-linked Recessive:X-linked Recessive$Norrie disease:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4693[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1331~300658~-","NDP"]
["NDP","Norrie disease","Atrophia bulborum hereditaria","X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Exudative Vitreoretinopathy, Familial, X-linked Recessive:X-linked Recessive$Norrie disease:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4693[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1331~300658~-","NDP"]
["NDP","Persistent fetal vasculature","Persistent primary vitreous","X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Exudative Vitreoretinopathy, Familial, X-linked Recessive:X-linked Recessive$Norrie disease:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4693[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1331~300658~-","NDP"]
["NDP","Retinal malformation","Retinal arteriovenous malformation","X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Exudative Vitreoretinopathy, Familial, X-linked Recessive:X-linked Recessive$Norrie disease:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4693[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1331~300658~-","NDP"]
["NDP","Retinopathy of prematurity","Retinopathy of prematurity","Risk","Familial exudative vitreoretinopathy:X-linked Recessive$Exudative Vitreoretinopathy, Familial, X-linked Recessive:X-linked Recessive$Norrie disease:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","Familial exudative vitreoretinopathy:X-linked Recessive$Atrophia bulborum hereditaria:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4693[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1331~300658~-","NDP"]
["NDRG1","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, type 4D:Autosomal Recessive$Neuropathy, hereditary motor and sensory, LOM type:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Neuropathy, hereditary motor and sensory, LOM type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10397[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605262~-","NDRG1"]
["NDRG1","Neuropathy, hereditary motor and sensory, Lom-type","Neuropathy, hereditary motor and sensory, LOM type","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, type 4D:Autosomal Recessive$Neuropathy, hereditary motor and sensory, LOM type:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Neuropathy, hereditary motor and sensory, LOM type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10397[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605262~-","NDRG1"]
["NDST1","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~600853~-","NDST1"]
["NDUFA1","Mitochondrial complex 1 deficiency","Mitochondrial complex I deficiency","X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:X-linked Recessive","Mitochondrial complex I deficiency:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4694[geneid]~-~300078~-","NDUFA1"]
["NDUFA10","Complex I deficiency","Leigh's disease","Autosomal Recessive","Leigh's disease:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4705[geneid]~-~603835~-","NDUFA10"]
["NDUFA11","Mitochondrial complex I deficiency","Mitochondrial complex I deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=126328[geneid]~-~612638~-","NDUFA11"]
["NDUFA12","Leigh syndrome","Leigh's disease","Autosomal Recessive","Leigh's disease:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55967[geneid]~-~614530~-","NDUFA12"]
["NDUFA13","Thyroid tumours","Hurthle cell carcinoma of thyroid","Autosomal Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51079[geneid]~-~609435~-","NDUFA13"]
["NDUFA2","Leigh syndrome","Leigh's disease","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4695[geneid]~-~602137~-","NDUFA2"]
["NDUFA4","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4697[geneid]~-~603833~-","NDUFA4"]
["NDUFA4","Cytochrome c oxidase deficiency","Cytochrome-c oxidase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4697[geneid]~-~603833~-","NDUFA4"]
["NDUFA6","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4700[geneid]~-~602138~-","NDUFA6"]
["NDUFA8","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Dominant","Mitochondrial complex I deficiency:Autosomal Dominant$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Dominant","Mitochondrial complex I deficiency:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4702[geneid]~-~603359~-","NDUFA8"]
["NDUFA9","Leigh syndrome","Leigh's disease","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4704[geneid]~-~603834~-","NDUFA9"]
["NDUFAF1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51103[geneid]~-~606934~-","NDUFAF1"]
["NDUFAF1","Hypertrophic cardiomyopathy, fatal infantile","Fatal infantile mitochondrial cardiomyopathy","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51103[geneid]~-~606934~-","NDUFAF1"]
["NDUFAF2","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91942[geneid]~-~609653~-","NDUFAF2"]
["NDUFAF2","Leigh's disease","Leigh's disease","Autosomal Recessive","Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91942[geneid]~-~609653~-","NDUFAF2"]
["NDUFAF2","Mitochondrial complex I deficiency","Mitochondrial complex I deficiency","Autosomal Recessive","Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91942[geneid]~-~609653~-","NDUFAF2"]
["NDUFAF3","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25915[geneid]~-~612911~-","NDUFAF3"]
["NDUFAF4","Complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29078[geneid]~-~611776~-","NDUFAF4"]
["NDUFB1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4707[geneid]~-~603837~-","NDUFB1"]
["NDUFB3","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4709[geneid]~-~603839~-","NDUFB3"]
["NDUFB9","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4715[geneid]~-~601445~-","NDUFB9"]
["NDUFS1","Complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4719[geneid]~-~157655~-","NDUFS1"]
["NDUFS1","Mitochondrial complex 1 deficiency","Mitochondrial complex I deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4719[geneid]~-~157655~-","NDUFS1"]
["NDUFS2","Complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4720[geneid]~-~602985~-","NDUFS2"]
["NDUFS2","Isolated Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4720[geneid]~-~602985~-","NDUFS2"]
["NDUFS3","Complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4722[geneid]~-~603846~-","NDUFS3"]
["NDUFS4","Complex 1 and 3 deficiency, combined","Complex I deficiency;Complex III deficiency","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4724[geneid]~-~602694~-","NDUFS4"]
["NDUFS4","Complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4724[geneid]~-~602694~-","NDUFS4"]
["NDUFS4","Leigh syndrome","Leigh's disease","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4724[geneid]~-~602694~-","NDUFS4"]
["NDUFS5","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4725[geneid]~-~603847~-","NDUFS5"]
["NDUFS6","Lactic acidemia, neonatal","Lactic acidemia","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4726[geneid]~-~603848~-","NDUFS6"]
["NDUFS6","Mitochondrial complex I deficiency","Mitochondrial complex I deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4726[geneid]~-~603848~-","NDUFS6"]
["NDUFS7","Cardiomyopathy, neonatal","Fatal infantile mitochondrial cardiomyopathy","Autosomal Recessive","Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374291[geneid]~-~601825~-","NDUFS7"]
["NDUFS7","Leigh syndrome","Leigh's disease","Autosomal Recessive","Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=374291[geneid]~-~601825~-","NDUFS7"]
["NDUFS8","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4728[geneid]~-~602141~-","NDUFS8"]
["NDUFS8","Leigh syndrome","Leigh's disease","Autosomal Recessive","Leigh syndrome due to mitochondrial complex I deficiency:Autosomal Recessive$Leigh syndrome:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Leigh's disease:Autosomal Recessive$Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4728[geneid]~-~602141~-","NDUFS8"]
["NDUFV1","Complex 1 deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4723[geneid]~-~161015~-","NDUFV1"]
["NDUFV2","Hypertrophic cardiomyopathy and encephalopathy","Hypertrophic cardiomyopathy;Encephalopathy","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4729[geneid]~-~600532~-","NDUFV2"]
["NDUFV2","Parkinson disease","Parkinson's disease","Autosomal Dominant","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4729[geneid]~-~600532~-","NDUFV2"]
["NDUFV3","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4731[geneid]~-~602184~-","NDUFV3"]
["NEB","Cone-rod myopathy","Nemaline Myopathy 2","Autosomal Recessive","Nemaline Myopathy 2:Autosomal Recessive$Nemaline myopathy:Autosomal Recessive","Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4703[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1288~161650~-","NEB"]
["NEB","Congenital myopathy","Congenital myopathy","Autosomal Recessive","Nemaline Myopathy 2:Autosomal Recessive$Nemaline myopathy:Autosomal Recessive","Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4703[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1288~161650~-","NEB"]
["NEB","Nemaline myopathy","Nemaline Myopathy 2","Autosomal Recessive","Nemaline Myopathy 2:Autosomal Recessive$Nemaline myopathy:Autosomal Recessive","Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4703[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1288~161650~-","NEB"]
["NEBL","Cardiomyopathy, dilated","Dilated cardiomyopathy","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10529[geneid]~-~605491~-","NEBL"]
["NEBL","Cardiomyopathy, dilated & endocardial fibroelastosis","Dilated cardiomyopathy;Endocardial fibroelastosis","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10529[geneid]~-~605491~-","NEBL"]
["NEDD4L","Diabetic renal disease","Diabetic renal disease","Risk",null,null,"HIGH","-~-~606384~-","NEDD4L"]
["NEDD4L","Epilepsy, photosensitive generalised","Generalized epilepsy;Reflex epilepsy","Modifier",null,null,"HIGH","-~-~606384~-","NEDD4L"]
["NEDD4L","Impaired ENaC regulation","NULL","No disease association PMID 15140763","NULL","NULL","HIGH","-~-~606384~-","NEDD4L"]
["NEDD4L","Impaired ENaC regulation","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~606384~-","NEDD4L"]
["NEFH","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~162230~-","NEFH"]
["NEFM","Parkinson disease","Parkinson's disease","Risk",null,null,"HIGH","-~-~162250~-","NEFM"]
["NEIL1","Altered splicing","NULL","No disease association PMID 18515411","NULL","NULL","HIGH","-~-~608844~-","NEIL1"]
["NEIL1","Altered splicing","NULL","Negated by PMID 18515411","NULL","NULL","HIGH","-~-~608844~-","NEIL1"]
["NEIL2","Multiple colorectal adenoma","NULL","No disease association PMID 16010685","NULL","NULL","HIGH","-~-~608933~-","NEIL2"]
["NEIL2","Multiple colorectal adenoma","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~608933~-","NEIL2"]
["NEIL2","Reduced expression","NULL","No disease association PMID 18651651","NULL","NULL","HIGH","-~-~608933~-","NEIL2"]
["NEIL2","Reduced expression","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~608933~-","NEIL2"]
["NEK1","Short rib-polydactyly syndrome, Majewski type","Short rib-polydactyly syndrome, Majewski type","Autosomal Recessive","Short rib-polydactyly syndrome, Majewski type:Autosomal Recessive$Short Rib Polydactyly Syndrome, Type II:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Short rib polydactyly syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4750[geneid]~-~604588~-","NEK1"]
["NEK8","Multiple organ dysplasia","Renal-Hepatic-Pancreatic Dysplasia","Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284086[geneid]~-~609799~-","NEK8"]
["NEK8","Nephronophthisis","Nephronophthisis","Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284086[geneid]~-~609799~-","NEK8"]
["NEK8","Renal-Hepatic-Pancreatic Dysplasia","NULL","Autosomal Recessive (Not listed in HGMD, listed in OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284086[geneid]~-~609799~-","NEK8"]
["NELF","Hypogonadotropic hypogonadism, idiopathic","Hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26012[geneid]~-~608137~-","NSMF"]
["NELF","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26012[geneid]~-~608137~-","NSMF"]
["NEU1","Sialidosis","Sialidosis","Autosomal Recessive","Sialidosis:Autosomal Recessive$Sialidosis, Type I:Autosomal Recessive$Sialidosis, Type II:Autosomal Recessive$Dysmorphic sialidosis:Autosomal Recessive$Neuraminidase 1 deficiency:Autosomal Recessive","Sialidosis:Autosomal Recessive$Dysmorphic sialidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4758[geneid]~-~608272~-","NEU1"]
["NEU1","Sialidosis 1","Sialidosis, Type I","Autosomal Recessive","Sialidosis:Autosomal Recessive$Sialidosis, Type I:Autosomal Recessive$Sialidosis, Type II:Autosomal Recessive$Dysmorphic sialidosis:Autosomal Recessive$Neuraminidase 1 deficiency:Autosomal Recessive","Sialidosis:Autosomal Recessive$Dysmorphic sialidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4758[geneid]~-~608272~-","NEU1"]
["NEU1","Sialidosis 2","Neuraminidase 1 deficiency","Autosomal Recessive","Sialidosis:Autosomal Recessive$Sialidosis, Type I:Autosomal Recessive$Sialidosis, Type II:Autosomal Recessive$Dysmorphic sialidosis:Autosomal Recessive$Neuraminidase 1 deficiency:Autosomal Recessive","Sialidosis:Autosomal Recessive$Dysmorphic sialidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4758[geneid]~-~608272~-","NEU1"]
["NEUROD1","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","MODY, Type 6:Autosomal Dominant$Maturity-onset diabetes of the young, type 6:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4760[geneid]~-~601724~-","NEUROD1"]
["NEUROD1","Diabetes, MODY","MODY, Type 6","Autosomal Dominant","MODY, Type 6:Autosomal Dominant$Maturity-onset diabetes of the young, type 6:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4760[geneid]~-~601724~-","NEUROD1"]
["NEUROD1","Diabetes, permanent neonatal","Diabetes Mellitus, Permanent Neonatal","Autosomal Recessive","MODY, Type 6:Autosomal Dominant$Maturity-onset diabetes of the young, type 6:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4760[geneid]~-~601724~-","NEUROD1"]
["NEUROD1","Diabetes, type 2, early-onset","Diabetes mellitus type 2","Autosomal Dominant","MODY, Type 6:Autosomal Dominant$Maturity-onset diabetes of the young, type 6:Autosomal Dominant$Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4760[geneid]~-~601724~-","NEUROD1"]
["NEUROG3","Diabetes, permanent neonatal & enteric anendocrinosis","Diabetes Mellitus, Permanent Neonatal;Diarrhea 4, Malabsorptive, Congenital","Autosomal Recessive","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50674[geneid]~-~604882~-","NEUROG3"]
["NEUROG3","Diarrhoea 4, malabsorptive, congenital","Diarrhea 4, Malabsorptive, Congenital","Autosomal Recessive","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50674[geneid]~-~604882~-","NEUROG3"]
["NEUROG3","Neonatal diabetes & malabsorptive diarrhoea","Diabetes Mellitus, Permanent Neonatal;Diarrhea 4, Malabsorptive, Congenital","Autosomal Recessive","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50674[geneid]~-~604882~-","NEUROG3"]
["NEUROG3","Neurogenin 3 deficiency","Diabetes mellitus type 2","Risk","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","Diarrhea 4, Malabsorptive, Congenital:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50674[geneid]~-~604882~-","NEUROG3"]
["NEXN","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1CC","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1CC:Autosomal Dominant$Primary familial hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~613121~-","NEXN"]
["NEXN","Cardiomyopathy, hypertrophic","Cardiomyopathy, familial hypertrophic, 20","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1CC:Autosomal Dominant$Primary familial hypertrophic cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~613121~-","NEXN"]
["NF1","Astrocytoma, pilocytic","Pilocytic astrocytoma","Risk","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Autism","Autistic Disorder","Risk","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Cafe-au-lait macules with pulmonary stenosis","Cafe-au-lait macules with pulmonary stenosis","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Chronic myelogenous leukaemia, juvenile","Juvenile myelomonocytic leukemia","Autosomal Recessive","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Congenital heart disease","Congenital heart disease","Risk","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Desmoplastic Neurotropic Melanoma","Desmoplastic Neurotropic Melanoma","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Glomus tumours in neurofibromatosis 1","Desmoplastic Neurotropic Melanoma","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Myelomonocytic leukaemia, juvenile","Juvenile Myelomonocytic Leukemia","Autosomal Recessive","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Neurofibromatosis","Neurofibromatosis","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Neurofibromatosis 1","Neurofibromatosis, type 1","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Neurofibromatosis 1 optic pathway gliomas","Neurofibromatosis, type 1","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Neurofibromatosis, spinal","Neurofibromatosis, Familial Spinal","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Neurofibromatosis-Noonan syndrome","Neurofibromatosis-Noonan syndrome","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Noonan syndrome","Noonan's syndrome","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Noonan syndrome & neurofibromatosis 1","Neurofibromatosis-Noonan syndrome","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF1","Plexiform neurofibromas","Plexiform neurofibroma","Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis-Noonan syndrome:Autosomal Dominant$Watson syndrome:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","Juvenile myelomonocytic leukemia:Autosomal Recessive$Desmoplastic Neurotropic Melanoma:Autosomal Dominant$Neurofibromatosis, type 1:Autosomal Dominant$Neurofibromatosis, Familial Spinal:Autosomal Dominant$Cafe-au-lait macules with pulmonary stenosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4763[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1109~613113~-","NF1"]
["NF2","Neurofibromatosis 2","Neurofibromatosis, type 2","Autosomal Dominant","Meningioma:Autosomal Dominant$Neurofibromatosis, type 2:Autosomal Dominant$Schwannomatosis:Autosomal Dominant","Meningioma:Autosomal Dominant$Neurofibromatosis, type 2:Autosomal Dominant$Schwannomatosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4771[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1201~607379~-","NF2"]
["NF2","Schwannoma","Neurilemmoma","Autosomal Dominant","Meningioma:Autosomal Dominant$Neurofibromatosis, type 2:Autosomal Dominant$Schwannomatosis:Autosomal Dominant","Meningioma:Autosomal Dominant$Neurofibromatosis, type 2:Autosomal Dominant$Schwannomatosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4771[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1201~607379~-","NF2"]
["NFAT5","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604708~-","NFAT5"]
["NFATC1","Tricuspid atresia","Congenital atresia of tricuspid valve","Autosomal Dominant",null,null,"HIGH","-~-~600489~-","NFATC1"]
["NFE2L2","Oligoasthenozoospermia, increased risk","Oligoasthenozoospermia","Risk",null,null,"HIGH","-~-~600492~-","NFE2L2"]
["NFIA","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600727~-","NFIA"]
["NFIX","Marshall -Smith syndrome","Marshall-Smith syndrome","Autosomal Dominant","Marshall-Smith syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Marshall-Smith syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","-~-~164005~-","NFIX"]
["NFIX","Sotos-like syndrome","Sotos' syndrome","Autosomal Dominant","Marshall-Smith syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Marshall-Smith syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","-~-~164005~-","NFIX"]
["NFKBIA","Ectodermal dysplasia, anhidrotic with immune deficiency","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant","Autosomal Dominant","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","HIGH","-~-~164008~-","NFKBIA"]
["NFKBIA","Ectodermal dysplasia, with immunodeficiency","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant","Autosomal Dominant","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","HIGH","-~-~164008~-","NFKBIA"]
["NFKBIA","Hodgkin lymphoma","Hodgkin's disease","Risk","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","HIGH","-~-~164008~-","NFKBIA"]
["NFKBIA","Invasive pneumococcal disease, protection against","Pneumococcal Infections","Decreased Risk","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","HIGH","-~-~164008~-","NFKBIA"]
["NFU1","Fatal infantile encephalopathy and/or pulmonary hypertension","Multiple Mitochondrial Dysfunctions Syndrome","Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27247[geneid]~-~608100~-","NFU1"]
["NFU1","Respiratory chain & 2-oxoacid dehydrogenase deficiency, combined","Multiple Mitochondrial Dysfunctions Syndrome","Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","Multiple Mitochondrial Dysfunctions Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27247[geneid]~-~608100~-","NFU1"]
["NGF","Loss of pain perception","Hereditary sensory and autonomic neuropathy type V","Autosomal Recessive","Congenital sensory neuropathy with selective loss of small myelinated fibers:Autosomal Recessive$Hereditary Sensory Autonomic Neuropathy, Type 5:Autosomal Recessive","Congenital sensory neuropathy with selective loss of small myelinated fibers:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4803[geneid]~-~162030~-","NGF"]
["NGF","Sensory and autonomic neuropathy","Hereditary sensory and autonomic neuropathy type V","Autosomal Recessive","Congenital sensory neuropathy with selective loss of small myelinated fibers:Autosomal Recessive$Hereditary Sensory Autonomic Neuropathy, Type 5:Autosomal Recessive","Congenital sensory neuropathy with selective loss of small myelinated fibers:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4803[geneid]~-~162030~-","NGF"]
["NGLY1","Developmental delay, multifocal epilepsy & abnormal liver function","Congenital disorder of glycosylation type Ia","Autosomal Recessive","Congenital disorder of glycosylation type Ia:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~-~610661~-","NGLY1"]
["NHEJ1","Immunodeficiency with microcephaly","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation","Autosomal Recessive","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:Autosomal Recessive","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79840[geneid]~-~611290~-","NHEJ1"]
["NHEJ1","Immunodeficiency with radiosensitivity","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation","Autosomal Recessive","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:Autosomal Recessive","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79840[geneid]~-~611290~-","NHEJ1"]
["NHEJ1","Nijmegen breakage syndrome-like phenotype","Nijmegen Breakage Syndrome-Like Disorder","Autosomal Recessive","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:Autosomal Recessive","Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79840[geneid]~-~611290~-","NHEJ1"]
["NHLRC1","Myoclonic epilepsy of Lafora","Epilepsy, Progressive Myoclonic 2B","Autosomal Recessive","Epilepsy, Progressive Myoclonic 2B:Autosomal Recessive$Familial Progressive Myoclonic Epilepsy:Autosomal Recessive","Familial Progressive Myoclonic Epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=378884[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1389~608072~-","NHLRC1"]
["NHP2","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Recessive","Dyskeratosis congenita:Autosomal Recessive","Dyskeratosis congenita:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55651[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~606470~-","NHP2"]
["NHS","Cataract","Cataract","X-linked Dominant","Cataract:X-linked dominant$Nance-Horan syndrome :X-linked dominant","Cataract:X-linked dominant$Nance-Horan syndrome :X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4810[geneid]~-~300457~-","NHS"]
["NHS","Nance-Horan syndrome","Nance-Horan syndrome","X-linked Dominant","Cataract:X-linked dominant$Nance-Horan syndrome :X-linked dominant","Cataract:X-linked dominant$Nance-Horan syndrome :X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4810[geneid]~-~300457~-","NHS"]
["NID1","Altered recombination frequency","NULL","No disease associated PMID 15987698","NULL","NULL","HIGH","-~-~131390~-","NID1"]
["NID1","Altered recombination frequency","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~131390~-","NID1"]
["NID1","Dandy-Walker malformation and occipital cephaloceles","Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant","Autosomal Dominant","Dandy-Walker Malformation With Occipital Cephalocele:Autosomal Dominant","Dandy-Walker Malformation With Occipital Cephalocele:Autosomal Dominant","HIGH","-~-~131390~-","NID1"]
["NIN","Microcephalic primordial dwarfism","Primordial dwarfism","Autosomal Recessive","Seckel syndrome:Autosomal Recessive","Seckel syndrome:Autosomal Recessive","HIGH","-~-~608684~-","NIN"]
["NIN","Spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type","Spondyloepimetaphyseal dysplasia with multiple dislocations","Autosomal Dominant","Seckel syndrome:Autosomal Recessive","Seckel syndrome:Autosomal Recessive","HIGH","-~-~608684~-","NIN"]
["NIPA1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Spastic paraplegia 6, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123606[geneid]~-~608145~-","NIPA1"]
["NIPA1","Spastic paraplegia, Autosomal Dominant","Spastic paraplegia 6, Autosomal Dominant","Autosomal Dominant","Spastic paraplegia 6, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123606[geneid]~-~608145~-","NIPA1"]
["NIPA2","Childhood absence epilepsy","Childhood absence epilepsy","Autosomal Dominant",null,null,"HIGH","-~-~608146~-","NIPA2"]
["NIPAL4","Ichthyosis, Autosomal Recessive","Congenital ichthyosis","Autosomal Recessive","Congenital ichthyosis:Autosomal Recessive","Congenital ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~609383~-","NIPAL4"]
["NIPAL4","Ichthyosis, harlequin","Harlequin ichthyosis","Autosomal Recessive","Congenital ichthyosis:Autosomal Recessive","Congenital ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~609383~-","NIPAL4"]
["NIPBL","Cornelia de Lange syndrome","De Lange syndrome","Autosomal Dominant","Cornelia de Lange Syndrome 1:Autosomal Dominant$De Lange syndrome:Autosomal Dominant","De Lange syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~608667~-","NIPBL"]
["NIPSNAP1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","-~-~603249~-","NIPSNAP1"]
["NIPSNAP3A","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","-~-~608871~-","NIPSNAP3A"]
["NISCH","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11188[geneid]~-~-~-","NISCH"]
["NKX2-1","Benign hereditary chorea","Benign hereditary chorea","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Benign hereditary chorea with short stature & psychosis","Benign hereditary chorea;Short stature disorder;Psychotic disorder","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Brain-thyroid-lung syndrome","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Dyskinesia, respiratory distress, hypothyrotropinaemia","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Hypothyroidism","Hypothyroidism","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Hypothyroidism & benign chorea","Hypothyroidism;Benign hereditary chorea","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Hypothyroidism and neonatal respiratory failure","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Hypothyroidism, neonatal respiratory distress, and ataxia","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Interstitial lung disease","Interstitial lung disease","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Lung disease, childhood","Interstitial lung disease of childhood","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Multinodular goiter and papillary thyroid carcinoma","Multinodular goiter;Papillary thyroid carcinoma","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Respiratory distress, neonatal","Respiratory distress syndrome in the newborn","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-1","Thyroid dysfunction and respiratory failure","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress","Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","Benign hereditary chorea:Autosomal Dominant$Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress:Autosomal Dominant$Neonatal goiter:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7080[geneid]~-~600635~-","NKX2-1"]
["NKX2-5","Accessory atrioventricular connection","Conotruncal cardiac defects","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Atrial septal defect","Atrial septal defect","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Cardiac disease","Conotruncal cardiac defects","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Congenital heart disease","Conotruncal cardiac defects;Hypoplastic left heart syndrome 2","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Congenital heart disease & cardiomyopathy, adult-onset","Congenital heart disease;Cardiomyopathy","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Congenital heart disease, non-syndromic","Conotruncal cardiac defects","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Isolated congenital asplenia","Congenital absence of spleen","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Thyroid dysgenesis","Hypothyroidism, Congenital, Nongoitrous, 5","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Ventricular septal defect","Ventricular septal defect 3","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-5","Wenckebach periodicity","Mobitz type I incomplete atrioventricular block","Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Hypothyroidism, Congenital, Nongoitrous, 5:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant$Conotruncal cardiac defects:Autosomal Dominant$Hypoplastic left heart syndrome:Autosomal Dominant$Congenital Hypothyroidism:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Ventricular septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1482[geneid]~-~600584~-","NKX2-5"]
["NKX2-6","Common arterial trunk","Common truncus arteriosus","Autosomal Recessive","Common truncus arteriosus:Autosomal Recessive","Common truncus arteriosus:Autosomal Recessive","HIGH","-~-~611770~-","NKX2-6"]
["NKX3-2","Spondylo-megaepiphyseal-metaphyseal dysplasia","Spondylo-Megaepiphyseal-Metaphyseal Dysplasia","Autosomal Recessive","Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:Autosomal Recessive","Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=579[geneid]~-~602183~-","NKX3-2"]
["NLGN1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600568~-","NLGN1"]
["NLGN2","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~606479~-","NLGN2"]
["NLGN3","Autism","Autistic Disorder","X-linked Recessive","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54413[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1442~300336~-","NLGN3"]
["NLGN3","Autism spectrum disorder","Autistic Disorder","X-linked Recessive","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54413[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1442~300336~-","NLGN3"]
["NLGN4X","Autism","Autistic Disorder","X-linked Dominant","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57502[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1442~300427~-","NLGN4X"]
["NLGN4X","Autism and mental retardation","Autistic Disorder;Mental retardation","X-linked Dominant","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57502[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1442~300427~-","NLGN4X"]
["NLGN4X","Mental retardation","Mental retardation","X-linked Dominant","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57502[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1442~300427~-","NLGN4X"]
["NLGN4Y","Autism","Autistic Disorder","Y-linked","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~400028~-","NLGN4Y"]
["NLRP1","Autoimmunity","Autoimmunity","Autosomal Dominant","Hereditary benign intraepithelial dyskeratosis:Autosomal Dominant","Hereditary benign intraepithelial dyskeratosis:Autosomal Dominant","HIGH","-~-~606636~-","NLRP1"]
["NLRP1","Corneal intraepithelial dyskeratosis","Hereditary benign intraepithelial dyskeratosis","Autosomal Dominant","Hereditary benign intraepithelial dyskeratosis:Autosomal Dominant","Hereditary benign intraepithelial dyskeratosis:Autosomal Dominant","HIGH","-~-~606636~-","NLRP1"]
["NLRP12","Autoinflammatory disease, cold-induced","Familial Cold Autoinflammatory Syndrome 2","Autosomal Dominant","Familial Cold Autoinflammatory Syndrome 2:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant","Familial Cold Urticaria:Autosomal Dominant","HIGH","-~-~609648~-","NLRP12"]
["NLRP12","Periodic fever syndrome","Familial Cold Autoinflammatory Syndrome 2","Autosomal Dominant","Familial Cold Autoinflammatory Syndrome 2:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant","Familial Cold Urticaria:Autosomal Dominant","HIGH","-~-~609648~-","NLRP12"]
["NLRP14","Spermatogenic failure","Primary spermatogenic failure","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~609665~-","NLRP14"]
["NLRP2","Beckwith-Wiedemann syndrome","Beckwith-Wiedemann syndrome","Autosomal Recessive",null,null,"HIGH","-~-~609364~-","NLRP2"]
["NLRP3","CINCA syndrome","Chronic infantile neurological, cutaneous and articular syndrome","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP3","Cryopyrin-associated periodic syndrome","Cryopyrin associated periodic syndrome","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP3","Cryopyrin-associated periodic syndrome, atypical","Cryopyrin associated periodic syndrome","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP3","Familial cold autoinflammatory syndrome","Familial cold urticaria","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP3","Muckle-Wells syndrome","Familial amyloid nephropathy with urticaria AND deafness","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP3","NOMID/CINCA syndrome","Chronic infantile neurological, cutaneous and articular syndrome","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP3","Recurrent fever and amyloidosis","Familial cold urticaria","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP3","Rheumatoid arthritis and recurrent fever","Familial cold urticaria","Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$CINCA syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Muckle Wells Syndrome:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","Chronic infantile neurological, cutaneous and articular syndrome:Autosomal Dominant$Familial Cold Urticaria:Autosomal Dominant$Familial amyloid nephropathy with urticaria AND deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114548[geneid]~-~606416~-","NLRP3"]
["NLRP7","Hydatidiform mole","Hydatidiform mole","Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","Hydatidiform mole:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=199713[geneid]~-~609661~-","NLRP7"]
["NLRX1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611947~-","NLRX1"]
["NME1","Neuroblastoma","Neuroblastoma","Autosomal Dominant","Neuroblastoma:Autosomal Dominant","Neuroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4830[geneid]~-~156490~-","NME1"]
["NME7","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613465~-","NME7"]
["NME8","Ciliary dyskinesia, primary","Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 6:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51314[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~607421~-","NME8"]
["NME8","Reduced expression of d7 isoform","Ciliary Dyskinesia, Primary, 6","Autosomal Recessive","Ciliary Dyskinesia, Primary, 6:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51314[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~607421~-","NME8"]
["NMNAT1","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Amaurosis congenita of Leber, type 9:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1298~608700~-","NMNAT1"]
["NMU","Obesity, childhood onset","Childhood obesity","Autosomal Recessive",null,null,"HIGH","-~-~605103~-","NMU"]
["NNT","Glucocorticoid deficiency","Glucocorticoid deficiency","Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","Glucocorticoid deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23530[geneid]~-~607878~-","NNT"]
["NOBOX","Ovarian failure","Premature Ovarian Failure 5","Autosomal Dominant","Premature ovarian failure 5:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","Premature ovarian failure:Autosomal Dominant","HIGH","-~-~610934~-","NOBOX"]
["NOBOX","Ovarian insufficiency, primary","Premature menopause","Autosomal Dominant","Premature ovarian failure 5:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant","Premature ovarian failure:Autosomal Dominant","HIGH","-~-~610934~-","NOBOX"]
["NOD2","Blau arteritis","Synovitis granulomatous with uveitis and cranial neuropathies","Autosomal Dominant","Blau syndrome:Autosomal Dominant$Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis, Early-Onset:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64127[geneid]~-~605956~-","NOD2"]
["NOD2","Blau syndrome","Synovitis granulomatous with uveitis and cranial neuropathies","Autosomal Dominant","Blau syndrome:Autosomal Dominant$Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis, Early-Onset:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64127[geneid]~-~605956~-","NOD2"]
["NOD2","Crohn's disease","Crohn's disease","Autosomal Dominant","Blau syndrome:Autosomal Dominant$Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis, Early-Onset:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64127[geneid]~-~605956~-","NOD2"]
["NOD2","Granulomatous arthritis, paediatric","Granulomatous arthritis","Autosomal Dominant","Blau syndrome:Autosomal Dominant$Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis, Early-Onset:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64127[geneid]~-~605956~-","NOD2"]
["NOD2","Sarcoidosis, early onset","Sarcoidosis, Early-Onset","Autosomal Dominant","Blau syndrome:Autosomal Dominant$Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis, Early-Onset:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64127[geneid]~-~605956~-","NOD2"]
["NOD2","Synovitis, granulomatous, with uveitis","Synovitis granulomatous with uveitis and cranial neuropathies","Autosomal Dominant","Blau syndrome:Autosomal Dominant$Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis, Early-Onset:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","Synovitis granulomatous with uveitis and cranial neuropathies:Autosomal Dominant$Sarcoidosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64127[geneid]~-~605956~-","NOD2"]
["NODAL","Congenital heart disease","Heterotaxy, Visceral, 5, Autosomal","Autosomal Dominant","Heterotaxy, visceral, 5:Autosomal Dominant$Situs ambiguus:Autosomal Dominant","Situs ambiguus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4838[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~601265~-","NODAL"]
["NODAL","Double outlet right ventricle","Double outlet right ventricle","Autosomal Dominant","Heterotaxy, visceral, 5:Autosomal Dominant$Situs ambiguus:Autosomal Dominant","Situs ambiguus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4838[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~601265~-","NODAL"]
["NODAL","Situs ambiguus","Situs ambiguus","Autosomal Dominant","Heterotaxy, visceral, 5:Autosomal Dominant$Situs ambiguus:Autosomal Dominant","Situs ambiguus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4838[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~601265~-","NODAL"]
["NODAL","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant","Heterotaxy, visceral, 5:Autosomal Dominant$Situs ambiguus:Autosomal Dominant","Situs ambiguus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4838[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~601265~-","NODAL"]
["NOG","Brachydactyly, type B","Brachydactyly, Type B2","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Facioaudiosymphalangism syndrome","Multiple synostosis syndrome","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Fibrodysplasia ossificans progressiva","Progressive myositis ossificans","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Multiple synostoses syndrome","Multiple synostosis syndrome","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Premature ovarian failure and proximal symphalangism","Premature ovarian failure;Proximal interphalangeal joint symphalangism","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Stapes ankylosis with broad thumb and toes","Stapes Ankylosis With Broad Thumb And Toes","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Symphalangism, proximal","Proximal interphalangeal joint symphalangism","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Tarsal/carpal coalition syndrome","Tarsal carpal coalition syndrome","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOG","Teunissen-Cremers syndrome","Stapes Ankylosis With Broad Thumb And Toes","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type B:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","Brachydactyly:Autosomal Dominant$Multiple synostosis syndrome:Autosomal Dominant$Stapes Ankylosis With Broad Thumb And Toes:Autosomal Dominant$Proximal interphalangeal joint symphalangism:Autosomal Dominant$Tarsal carpal coalition syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9241[geneid]~-~602991~-","NOG"]
["NOL3","Cortical myoclonus","Epilepsy, Myoclonic, Benign Adult Familial, Type 2","Autosomal Dominant","Epilepsy, Myoclonic, Benign Adult Familial, Type 2:Autosomal Dominant","Epilepsy, Myoclonic, Benign Adult Familial, Type 2:Autosomal Dominant","HIGH","-~-~605235~-","NOL3"]
["NOP10","Dyskeratosis congenita, Autosomal Recessive","Dyskeratosis congenita","Autosomal Recessive","Dyskeratosis congenita:Autosomal Recessive$Dyskeratosis congenita, Autosomal Recessive:Autosomal Recessive","Dyskeratosis congenita:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55505[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~606471~-","NOP10"]
["NOS1AP","Autism spectrum disorder","Autistic Disorder","Risk","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9722[geneid]~-~605551~-","NOS1AP"]
["NOS1AP","Obsessive-compulsive disorder","Obsessive-compulsive disorder","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9722[geneid]~-~605551~-","NOS1AP"]
["NOS2","Hyperinsulinism","Hyperinsulinism","Risk","Hypertension:Risk$Malaria:Decreased risk","Hypertension:Risk$Malaria:Decreased risk","HIGH","-~-~163730~-","NOS2"]
["NOTCH1","Aortic valve disease","Aortic valve disorder","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4851[geneid]~-~190198~-","NOTCH1"]
["NOTCH1","Aortic valve stenosis, tricuspid, calcific","Aortic valve stenosis","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4851[geneid]~-~190198~-","NOTCH1"]
["NOTCH1","Bicuspid aortic valve","Bicuspid aortic valve","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4851[geneid]~-~190198~-","NOTCH1"]
["NOTCH1","Calcified aortic valve with ascending aortic aneurysm","Aortic valve calcification;Aneurysm of ascending aorta","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4851[geneid]~-~190198~-","NOTCH1"]
["NOTCH1","Hypoplastic left heart syndrome","Hypoplastic left heart syndrome","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","Aortic valve disorder:Autosomal Dominant$T-cell acute lymphoblastic leukemia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4851[geneid]~-~190198~-","NOTCH1"]
["NOTCH2","Alagille syndrome","Alagille Syndrome 2","Autosomal Dominant","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4853[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~600275~-","NOTCH2"]
["NOTCH2","Hajdu-Cheney syndrome","Hajdu-Cheney syndrome","Autosomal Dominant","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4853[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~600275~-","NOTCH2"]
["NOTCH2","Hyperinsulinism","Hyperinsulinism","Risk","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4853[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~600275~-","NOTCH2"]
["NOTCH2","Serpentine fibula-polycystic kidney syndrome","Serpentine fibula polycystic kidney syndrome","Autosomal Dominant","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","Alagille Syndrome 2:Autosomal Dominant$Hajdu-Cheney syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4853[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1273~600275~-","NOTCH2"]
["NOTCH3","Autism","Autistic Disorder","Risk","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NOTCH3","CADASIL","Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy","Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NOTCH3","CADASIL with haemorrhagic strokes","Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy","Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NOTCH3","CADASIL with varicose veins","Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy","Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NOTCH3","Colorectal cancer","Colorectal cancer","Risk","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NOTCH3","Myofibromatosis, infantile","Infantile myofibromatosis","Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NOTCH3","Primary intracerebral haemorrhage","Cerebral hemorrhage","Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NOTCH3","White matter lesions","Cerebral white matter lesion","Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","Infantile myofibromatosis:Autosomal Dominant$Cerebral Autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4854[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1500~600276~-","NOTCH3"]
["NP","Nucleoside phosphorylase deficiency","Purine-nucleoside phosphorylase deficiency;Immunodeficiency disorder","Autosomal Recessive","Purine-nucleoside phosphorylase deficiency:Autosomal Recessive$Immunodeficiency disorder:Autosomal Recessive","Immunodeficiency disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100289419[geneid]~-~-~-","CTF2P"]
["NPAS2","Altered expression","NULL","No disease association PMID 21140207","NULL","NULL","HIGH","-~-~603347~-","NPAS2"]
["NPAS2","Altered expression","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~603347~-","NPAS2"]
["NPAS3","Mental illness","Schizophrenia","Autosomal Dominant","Schizophrenia:Autosomal Dominant","Schizophrenia:Autosomal Dominant","HIGH","-~-~609430~-","NPAS3"]
["NPAT","Hodgkin lymphoma","Hodgkin lymphoma, lymphocyte-rich","Autosomal Dominant",null,null,"HIGH","-~-~601448~-","NPAT"]
["NPBWR1","Altered receptor function","NULL","No disease association PMID 22545105","NULL","NULL","HIGH","-~-~600730~-","NPBWR1"]
["NPBWR1","Altered receptor function","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~600730~-","NPBWR1"]
["NPC1","Inherited metabolic disease","Niemann-Pick Disease","Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive$Niemann-Pick Disease, Type C1:Autosomal Recessive$Niemann-Pick disease, type D:Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4864[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1296~607623~-","NPC1"]
["NPC1","Niemann-Pick disease C","Niemann-Pick Disease, Type C1","Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive$Niemann-Pick Disease, Type C1:Autosomal Recessive$Niemann-Pick disease, type D:Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4864[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1296~607623~-","NPC1"]
["NPC1","Niemann-Pick disease D","Niemann-Pick disease, type D","Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive$Niemann-Pick Disease, Type C1:Autosomal Recessive$Niemann-Pick disease, type D:Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4864[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1296~607623~-","NPC1"]
["NPC1","Niemann-Pick type II disease","Niemann-Pick disease","Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive$Niemann-Pick Disease, Type C1:Autosomal Recessive$Niemann-Pick disease, type D:Autosomal Recessive","Niemann-Pick Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4864[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1296~607623~-","NPC1"]
["NPC1L1","Ezetimibe non-response","Drug Response","Pharmacogenetic","Drug Response-Ezetimibe:Modifier","Drug Response:Modifier","HIGH","-~-~608010~-","NPC1L1"]
["NPC1L1","High dietary cholesterol absorption","Plasma LDL cholesterol","Modifier","Drug Response-Ezetimibe:Modifier","Drug Response:Modifier","HIGH","-~-~608010~-","NPC1L1"]
["NPC1L1","Low dietary cholesterol absorption","Plasma LDL cholesterol","Modifier","Drug Response-Ezetimibe:Modifier","Drug Response:Modifier","HIGH","-~-~608010~-","NPC1L1"]
["NPC2","Niemann-Pick type C2 disease","Niemann-Pick disease, type C2","Autosomal Recessive","Niemann-Pick disease:Autosomal Recessive$Niemann-Pick disease, type C2:Autosomal Recessive","Niemann-Pick disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10577[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1296~601015~-","NPC2"]
["NPFFR2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607449~-","NPFFR2"]
["NPHP1","Joubert syndrome 4","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Joubert syndrome 4:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Nephronophthisis, familial juvenile:Autosomal Recessive$Senior-Loken Syndrome 1:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4867[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~607100~-","NPHP1"]
["NPHP1","Nephronophthisis 1","Juvenile nephronophthisis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Joubert syndrome 4:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Nephronophthisis, familial juvenile:Autosomal Recessive$Senior-Loken Syndrome 1:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4867[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~607100~-","NPHP1"]
["NPHP1","Nephronophthisis 1 with COMA","Juvenile nephronophthisis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Joubert syndrome 4:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Nephronophthisis, familial juvenile:Autosomal Recessive$Senior-Loken Syndrome 1:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4867[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~607100~-","NPHP1"]
["NPHP1","Senior-Loken syndrome-1","Renal dysplasia and retinal aplasia","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Joubert syndrome 4:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Nephronophthisis, familial juvenile:Autosomal Recessive$Senior-Loken Syndrome 1:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Juvenile nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4867[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~607100~-","NPHP1"]
["NPHP3","Lethal cystic kidney disease","Cystic disease of kidney","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Nephronophthisis 3:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27031[geneid]~-~608002~-","NPHP3"]
["NPHP3","Meckel-Gruber-like syndrome","Meckel syndrome 7","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Nephronophthisis 3:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27031[geneid]~-~608002~-","NPHP3"]
["NPHP3","Multicystic-dysplastic kidneys, liver cysts & cardiac defects","Multicystic kidney;Liver cyst;Congenital heart defect","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Nephronophthisis 3:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27031[geneid]~-~608002~-","NPHP3"]
["NPHP3","Nephronophthisis 3","Adolescent nephronophthisis","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Nephronophthisis 3:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27031[geneid]~-~608002~-","NPHP3"]
["NPHP3","Nephronophthisis, infantile","Infantile nephronophthisis","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Nephronophthisis 3:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27031[geneid]~-~608002~-","NPHP3"]
["NPHP3","Renal-hepatic-pancreatic dysplasia","Renal-Hepatic-Pancreatic Dysplasia","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Nephronophthisis 3:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27031[geneid]~-~608002~-","NPHP3"]
["NPHP3","Situs inversus","Situs inversus","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Nephronophthisis 3:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive$Adolescent nephronophthisis:Autosomal Recessive$Renal-Hepatic-Pancreatic Dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27031[geneid]~-~608002~-","NPHP3"]
["NPHP4","Cardiovascular malformations","Congenital heart defect","Autosomal Recessive","Nephronophthisis type 4:Autosomal Recessive$Nephronophthisis:Autosomal Recessive$Senior-Loken syndrome 4:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=261734[geneid]~-~607215~-","NPHP4"]
["NPHP4","Glomerulosclerosis, focal segmental","Focal segmental glomerulosclerosis","Autosomal Recessive","Nephronophthisis type 4:Autosomal Recessive$Nephronophthisis:Autosomal Recessive$Senior-Loken syndrome 4:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=261734[geneid]~-~607215~-","NPHP4"]
["NPHP4","Nephronophthisis","Nephronophthisis type 4","Autosomal Recessive","Nephronophthisis type 4:Autosomal Recessive$Nephronophthisis:Autosomal Recessive$Senior-Loken syndrome 4:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=261734[geneid]~-~607215~-","NPHP4"]
["NPHP4","Nephronophthisis 4","Nephronophthisis type 4","Autosomal Recessive","Nephronophthisis type 4:Autosomal Recessive$Nephronophthisis:Autosomal Recessive$Senior-Loken syndrome 4:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=261734[geneid]~-~607215~-","NPHP4"]
["NPHP4","Senior-Loken syndrome","Renal dysplasia and retinal aplasia","Autosomal Recessive","Nephronophthisis type 4:Autosomal Recessive$Nephronophthisis:Autosomal Recessive$Senior-Loken syndrome 4:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=261734[geneid]~-~607215~-","NPHP4"]
["NPHP4","Senior-Loken syndrome 4","Senior-Loken syndrome 4","Autosomal Recessive","Nephronophthisis type 4:Autosomal Recessive$Nephronophthisis:Autosomal Recessive$Senior-Loken syndrome 4:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Nephronophthisis:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=261734[geneid]~-~607215~-","NPHP4"]
["NPHS1","Congenital nephrotic syndrome, Finnish type","Finnish congenital nephrotic syndrome","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive$Nephrotic Syndrome, Type 1:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4868[geneid]~-~602716~-","NPHS1"]
["NPHS1","Diffuse mesangial sclerosis","Diffuse mesangial sclerosis","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive$Nephrotic Syndrome, Type 1:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4868[geneid]~-~602716~-","NPHS1"]
["NPHS1","Focal segmental glomerulosclerosis","Focal segmental glomerulosclerosis","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive$Nephrotic Syndrome, Type 1:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4868[geneid]~-~602716~-","NPHS1"]
["NPHS1","Minimal change nephrotic syndrome","Minimal change disease","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive$Nephrotic Syndrome, Type 1:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4868[geneid]~-~602716~-","NPHS1"]
["NPHS1","Nephrotic syndrome","Nephrotic syndrome","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive$Nephrotic Syndrome, Type 1:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4868[geneid]~-~602716~-","NPHS1"]
["NPHS1","Nephrotic syndrome, steroid resistant","Steroid-resistant nephrotic syndrome","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive$Nephrotic Syndrome, Type 1:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive$Finnish congenital nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4868[geneid]~-~602716~-","NPHS1"]
["NPHS2","Focal segmental glomerulosclerosis","Focal segmental glomerulosclerosis","Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7827[geneid]~-~604766~-","NPHS2"]
["NPHS2","Nephrotic syndrome","Nephrotic syndrome, idiopathic, steroid-resistant","Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7827[geneid]~-~604766~-","NPHS2"]
["NPHS2","Nephrotic syndrome, steroid resistant","Steroid-resistant nephrotic syndrome","Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7827[geneid]~-~604766~-","NPHS2"]
["NPHS2","Proteinuria, asymptomatic","Asymptomatic proteinuria","Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7827[geneid]~-~604766~-","NPHS2"]
["NPHS2","Reduced expression","Chronic glomerular disease","Modifier","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7827[geneid]~-~604766~-","NPHS2"]
["NPHS2","Thin basement membrane disease","Thin basement membrane disease","Modifier","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome, idiopathic, steroid-resistant:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7827[geneid]~-~604766~-","NPHS2"]
["NPL","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk","HIGH","-~-~611412~-","NPL"]
["NPPA","Atrial fibrillation","Atrial Fibrillation, Familial, 6","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Atrial Fibrillation, Familial, 6:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant","HIGH","-~-~108780~-","NPPA"]
["NPPA","Cardiomyopathy, atrial dilated","Catecholaminergic polymorphic ventricular tachycardia","Autosomal Recessive","Atrial fibrillation:Autosomal Dominant$Atrial Fibrillation, Familial, 6:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant","HIGH","-~-~108780~-","NPPA"]
["NPPA","Increased expression","NULL","No disease association PMID 22496669","NULL","NULL","HIGH","-~-~108780~-","NPPA"]
["NPR2","Acromesomelic dysplasia, Maroteaux type","Acromesomelic dysplasia, Maroteaux type","Autosomal Recessive","Acromesomelic dysplasia, Maroteaux type:Autosomal Recessive$Acromesomelic dysplasia syndrome:Autosomal Recessive","Acromesomelic dysplasia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4882[geneid]~-~108961~-","NPR2"]
["NPR2","Short stature","Short stature disorder","Autosomal Dominant","Acromesomelic dysplasia, Maroteaux type:Autosomal Recessive$Acromesomelic dysplasia syndrome:Autosomal Recessive","Acromesomelic dysplasia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4882[geneid]~-~108961~-","NPR2"]
["NPR2","Tall stature, scoliosis & macrodactyly of great toes","Tall stature;Scoliosis;Macrodactylia of toes","Autosomal Dominant","Acromesomelic dysplasia, Maroteaux type:Autosomal Recessive$Acromesomelic dysplasia syndrome:Autosomal Recessive","Acromesomelic dysplasia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4882[geneid]~-~108961~-","NPR2"]
["NPTIIc","Hereditary hypophosphataemic rickets with hypercalciuria","Autosomal Recessive hypophosphatemic bone disease","Autosomal Recessive","Hypophosphatemic Rickets with Hypercalciuria, Hereditary:Autosomal Recessive$Autosomal Recessive hypophosphatemic bone disease:Autosomal Recessive","Autosomal Recessive hypophosphatemic bone disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=142680[geneid]~-~609826~-","SLC34A3"]
["NPTIIc","Hereditary hypophosphataemic rickets with hypercalciuria, modifier of","Autosomal Recessive hypophosphatemic bone disease","Autosomal Dominant","Hypophosphatemic Rickets with Hypercalciuria, Hereditary:Autosomal Recessive$Autosomal Recessive hypophosphatemic bone disease:Autosomal Recessive","Autosomal Recessive hypophosphatemic bone disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=142680[geneid]~-~609826~-","SLC34A3"]
["NPY2R","Obesity","Obesity","Autosomal Dominant",null,null,"HIGH","-~-~162642~-","NPY2R"]
["NR0B1","46XY sex reversal 2, dosage-sensitive","46, XY Gonadal Dysgenesis","X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B1","Addison disease","Addison's disease","X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B1","Adrenal hypoplasia","Congenital adrenal hypoplasia, X-linked","X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B1","Adrenal hypoplasia & hypogonadotrophic hypogonadism","Congenital adrenal hypoplasia, X-linked;Hypogonadotropic hypogonadism","X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B1","Adrenal hypoplasia, late-onset","Adrenal gland hypoplasia","X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B1","Adrenal insufficiency","Hypoadrenalism","X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B1","Autism spectrum disorder","Autistic Disorder","Risk","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B1","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","Gonadal Dysgenesis, 46,XY:X-linked Recessive$Congenital hypoplasia of adrenal gland:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1431~300473~-","NR0B1"]
["NR0B2","Impaired nuclear translocation","Obesity","Autosomal Dominant","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","-~-~604630~-","NR0B2"]
["NR0B2","Obesity","Obesity","Autosomal Dominant","Obesity:Autosomal Dominant","Obesity:Autosomal Dominant","HIGH","-~-~604630~-","NR0B2"]
["NR1H4","Cholestasis, infantile","Cholestasis in newborn","Autosomal Dominant",null,null,"HIGH","-~-~603826~-","NR1H4"]
["NR1H4","Decreased hepatic target gene expression","cholesterol gallstone;Atherosclerosis;Diabetes","Risk",null,null,"HIGH","-~-~603826~-","NR1H4"]
["NR1H4","Intrahepatic cholestasis of pregnancy","Cholestasis of pregnancy","Autosomal Dominant",null,null,"HIGH","-~-~603826~-","NR1H4"]
["NR1I2","Altered basal and/or induced transactivation","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~603065~-","NR1I2"]
["NR1I2","Attenuated ligand activation","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~603065~-","NR1I2"]
["NR1I3","Kleefstra syndrome","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~603881~-","NR1I3"]
["NR2A1","Diabetes","Diabetes mellitus","Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["NR2A1","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["NR2A1","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["NR2A1","Diabetes, MODY1","Maturity onset diabetes mellitus in young","Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["NR2A1","Hypoglycaemia, hyperinsulinaemic","Hyperinsulinemic hypoglycemia","Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["NR2A1","Reduced expression","Drug Response","Pharmacogenetic","Maturity-onset diabetes of the young:Autosomal Dominant","Maturity-onset diabetes of the young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~600281~-","HNF4A"]
["NR2E1","Microcephaly","Microcephalus","Risk",null,null,"HIGH","-~-~603849~-","NR2E1"]
["NR2F1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~132890~-","NR2F1"]
["NR3C1","Altered glucocorticoid sensitivity","NULL","No disease association PMID 10459864","NULL","NULL","HIGH","-~-~138040~-","NR3C1"]
["NR3C1","Altered glucocorticoid sensitivity","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~138040~-","NR3C1"]
["NR3C1","Glucocorticoid receptor deficiency","Female pseudohermaphroditism;Hypokalemia","Autosomal Recessive","Primary cortisol resistance:Autosomal Dominant","Primary cortisol resistance:Autosomal Dominant","HIGH","-~-~138040~-","NR3C1"]
["NR3C1","Glucocorticoid receptor deficiency","Hypercortisolism;Hyperandrogenization syndrome","Autosomal Dominant","Primary cortisol resistance:Autosomal Dominant","Primary cortisol resistance:Autosomal Dominant","HIGH","-~-~138040~-","NR3C1"]
["NR3C1","Glucocorticoid resistance","Hirsutism;Essential hypertension","Autosomal Dominant","Primary cortisol resistance:Autosomal Dominant","Primary cortisol resistance:Autosomal Dominant","HIGH","-~-~138040~-","NR3C1"]
["NR3C1","Increased glucocorticoid sensitivity","Obesity;Essential hypertension","Risk","Primary cortisol resistance:Autosomal Dominant","Primary cortisol resistance:Autosomal Dominant","HIGH","-~-~138040~-","NR3C1"]
["NR3C1","Lupus nephritis","NULL","Cannot determine inheritance. Need full text article PMID 11694247","NULL","NULL","HIGH","-~-~138040~-","NR3C1"]
["NR3C1","Reduced protein expression","Drug Response","Pharmacogenetic","Primary cortisol resistance:Autosomal Dominant","Primary cortisol resistance:Autosomal Dominant","HIGH","-~-~138040~-","NR3C1"]
["NR3C2","Autism","Autistic Disorder","Risk","Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy: Autosomal Dominant$Pseudohypoaldosteronism, type 1, dominant form:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy: Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4306[geneid]~-~600983~-","NR3C2"]
["NR3C2","Hypertension, early onset exacerbated in pregnancy","Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy","Autosomal Dominant","Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy: Autosomal Dominant$Pseudohypoaldosteronism, type 1, dominant form:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy: Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4306[geneid]~-~600983~-","NR3C2"]
["NR3C2","Pseudohypoaldosteronism 1","Pseudohypoaldosteronism, type 1, dominant form","Autosomal Dominant","Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy: Autosomal Dominant$Pseudohypoaldosteronism, type 1, dominant form:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy: Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4306[geneid]~-~600983~-","NR3C2"]
["NR4A2","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601828~-","NR4A2"]
["NR4A2","Bipolar disorder","Bipolar disorder","Risk",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601828~-","NR4A2"]
["NR4A2","Parkinson disease","Parkinson's disease","Risk",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601828~-","NR4A2"]
["NR4A2","Reduced expression","Parkinson's disease","Risk",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601828~-","NR4A2"]
["NR4A2","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601828~-","NR4A2"]
["NR5A1","46,XY disorder of sex development","46,XY Sex Reversal 3","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","46,XY disorder of sex development with anxiety/depression","46,XY Sex Reversal 3;Anxiety","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Adrenal hyperplasia, congenital lipoid","Lipoid congenital adrenal hyperplasia","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Adrenocortical insufficiency without ovarian defect","Adrenal cortical hypofunction","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Anorchia, bilateral","Congenital absence of both testes","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Azoospermia","Azoospermia","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Cryptozoospermia","Cryptozoospermia","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Low ovarian reserve","Premature menopause","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Micropenis","Congenital hypoplasia of penis","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Oligozoospermia","Oligozoospermia","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Ovarian insufficiency","Premature menopause","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Primary amenorrhea","Primary amenorrhea","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Primary amenorrhea & poor secondary sexual development","Primary amenorrhea;Abnormal development of secondary sexual characteristics","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Spermatogenic failure","Primary spermatogenic failure","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","Vanishing testis","Testicular regression syndrome","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","XY gonadal dysgenesis","Testicular regression syndrome","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","XY sex reversal","46,XY Sex Reversal 3","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","XY sex reversal, with adrenal failure","46,XY Sex Reversal 3","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NR5A1","XY sex reversal, without adrenal failure","46,XY Sex Reversal 3","Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$46,XY Sex Reversal 3:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Primary adrenocortical insufficiency:Autosomal Dominant$Premature Ovarian Failure 7:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","46, XY Disorders of Sex Development:Autosomal Dominant$Adrenal cortical hypofunction:Autosomal Dominant$Premature ovarian failure:Autosomal Dominant$Primary spermatogenic failure:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2516[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547~184757~-","NR5A1"]
["NRAS","Acute lymphoblastic leukaemia","Acute lymphoid leukemia, disease","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Noonan Syndrome 6:Autosomal Dominant$Noonan Syndrome:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4893[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~164790~-","NRAS"]
["NRAS","Autoimmune lymphoproliferative syndrome","Autoimmune Lymphoproliferative Syndrome","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Noonan Syndrome 6:Autosomal Dominant$Noonan Syndrome:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4893[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~164790~-","NRAS"]
["NRAS","Noonan syndrome","Noonan Syndrome 6","Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Noonan Syndrome 6:Autosomal Dominant$Noonan Syndrome:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant","Autoimmune Lymphoproliferative Syndrome:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4893[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~164790~-","NRAS"]
["NRG1","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant",null,null,"HIGH","-~-~142445~-","NRG1"]
["NRG3","Hirschsprung disease","Hirschsprung's disease","Risk",null,null,"HIGH","-~-~605533~-","NRG3"]
["NRGN","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~602350~-","NRGN"]
["NRL","Clumped pigmentary retinal degeneration","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type","Autosomal Recessive","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa 27:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~162080~-","NRL"]
["NRL","Cone dysfunction syndrome","Cone dysfunction syndrome","Autosomal Recessive","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa 27:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~162080~-","NRL"]
["NRL","Enhanced S cone syndrome","Enhanced S-Cone Syndrome","Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa 27:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~162080~-","NRL"]
["NRL","Leber congenital amaurosis","Leber's amaurosis","Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa 27:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~162080~-","NRL"]
["NRL","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa 27:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type:Autosomal Recessive$Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~162080~-","NRL"]
["NRTN","Aganglionosis, in Hirschsprung disease","Hirschsprung's disease","Modifier",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1439~602018~-","NRTN"]
["NRXN1","Autism","Autistic Disorder","Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9378[geneid]~-~600565~-","NRXN1"]
["NRXN1","Autism & mental retardation","Autistic Disorder;Mental retardation","Autosomal Recessive","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9378[geneid]~-~600565~-","NRXN1"]
["NRXN1","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9378[geneid]~-~600565~-","NRXN1"]
["NRXN1","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9378[geneid]~-~600565~-","NRXN1"]
["NRXN1","Mental retardation, Pitt-Hopkins-like","Pitt-Hopkins-Like Syndrome 2","Autosomal Recessive","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9378[geneid]~-~600565~-","NRXN1"]
["NRXN1","Schizophrenia","Schizophrenia","Autosomal Dominant","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9378[geneid]~-~600565~-","NRXN1"]
["NRXN1","Schizophrenia, disorganised type","Schizophrenia","Autosomal Dominant","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","Pitt-Hopkins-Like Syndrome 2:Autosomal Recessive$Schizophrenia:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9378[geneid]~-~600565~-","NRXN1"]
["NRXN2","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600566~-","NRXN2"]
["NSD1","Autism spectrum disorder","Autistic Disorder","Risk","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1479~606681~-","NSD1"]
["NSD1","Beckwith-Wiedemann syndrome","Beckwith-Wiedemann syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1479~606681~-","NSD1"]
["NSD1","Gigantism","Gigantism","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1479~606681~-","NSD1"]
["NSD1","Sotos syndrome","Sotos' syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1479~606681~-","NSD1"]
["NSD1","Sotos-like syndrome","Sotos' syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1479~606681~-","NSD1"]
["NSD1","Weaver syndrome","Weaver syndrome","Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos syndrome:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","Beckwith-Wiedemann syndrome:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Sotos' syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1479~606681~-","NSD1"]
["NSDHL","CHILD syndrome","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects","X-linked Dominant","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:X-linked dominant$CHILD syndrome:X-linked dominant$CK syndrome:X-linked Recessive","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:X-linked dominant$CK syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50814[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK51754~300275~-","NSDHL"]
["NSDHL","CK syndrome","CK syndrome","X-linked Recessive","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:X-linked dominant$CHILD syndrome:X-linked dominant$CK syndrome:X-linked Recessive","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:X-linked dominant$CK syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50814[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK51754~300275~-","NSDHL"]
["NSUN2","Dubowitz-like syndrome","Dubowitz's syndrome","Autosomal Recessive","Mental Retardation, Autosomal Recessive 5:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","-~-~610916~-","NSUN2"]
["NSUN2","Intellectual disability","Mental retardation","Autosomal Recessive","Mental Retardation, Autosomal Recessive 5:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","-~-~610916~-","NSUN2"]
["NSUN7","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79730[geneid]~-~-~-","NSUN7"]
["NT5C1B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610526~-","NT5C1B"]
["NT5C3","Haemolytic anaemia","Hemolytic anemia","Autosomal Recessive","Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to:Autosomal Recessive$Hemolytic anemia:Autosomal Recessive","Hemolytic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51251[geneid]~-~606224~-","NT5C3A"]
["NT5C3","Increased expression levels","Drug Response","Pharmacogenetic","Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to:Autosomal Recessive$Hemolytic anemia:Autosomal Recessive","Hemolytic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51251[geneid]~-~606224~-","NT5C3A"]
["NT5C3","Pyrimidine 5' nucleotidase deficiency","Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to","Autosomal Recessive","Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to:Autosomal Recessive$Hemolytic anemia:Autosomal Recessive","Hemolytic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51251[geneid]~-~606224~-","NT5C3A"]
["NT5E","Arterial & joint calcifications, symptomatic","Calcification of Joints and Arteries","Autosomal Recessive","Calcification of Joints and Arteries:Autosomal Recessive","Calcification of Joints and Arteries:Autosomal Recessive","HIGH","-~-~129190~-","NT5E"]
["NTF3","Hirschsprung disease","Hirschsprung's disease","Risk",null,null,"HIGH","-~-~162660~-","NTF3"]
["NTF5","Glaucoma, primary open angle","Glaucoma 1, Open Angle, A","Autosomal Dominant","Glaucoma 1, Open Angle, A:Autosomal Dominant$Open-angle glaucoma:Autosomal Dominant","Open-angle glaucoma:Autosomal Dominant","HIGH","-~-~162662~-","NTF4"]
["NTHL1","Nth endonuclease III-like 1 deficiency","NULL","No disease association PMID 18515411","NULL","NULL","HIGH","-~-~602656~-","NTHL1"]
["NTHL1","Nth endonuclease III-like 1 deficiency","NULL","Negated by PMID 18515411","NULL","NULL","HIGH","-~-~602656~-","NTHL1"]
["NTNG1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22854[geneid]~-~608818~-","NTNG1"]
["NTRK1","Pain insensitivity, congenital","Hereditary insensitivity to pain with anhidrosis","Autosomal Recessive","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1769~191315~-","NTRK1"]
["NTRK1","Pain insensitivity, congenital with anhidrosis","Hereditary insensitivity to pain with anhidrosis","Autosomal Recessive","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1769~191315~-","NTRK1"]
["NTRK1","Sensory and autonomic neuropathy","Hereditary sensory and autonomic neuropathy","Autosomal Recessive","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1769~191315~-","NTRK1"]
["NTRK1","Sensory and autonomic neuropathy type IV","Hereditary insensitivity to pain with anhidrosis","Autosomal Recessive","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1769~191315~-","NTRK1"]
["NTRK1","Sensory and autonomic neuropathy type V","Congenital sensory neuropathy with selective loss of small myelinated fibers","Autosomal Recessive","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","Hereditary insensitivity to pain with anhidrosis:Autosomal Dominant$Familial medullary thyroid carcinoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4914[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1769~191315~-","NTRK1"]
["NTRK2","Obesity, hyperphagia, and developmental delay","Obesity, Hyperphagia, and Developmental Delay","Autosomal Dominant","Obesity, Hyperphagia, and Developmental Delay:Autosomal Dominant","Obesity, Hyperphagia, and Developmental Delay:Autosomal Dominant","HIGH","-~-~600456~-","NTRK2"]
["NUAK1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608130~-","NUAK1"]
["NUB1","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~607981~-","NUB1"]
["NUBPL","Complex I deficiency","Mitochondrial complex I deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80224[geneid]~-~613621~-","NUBPL"]
["NUBPL","Progressive nystagmus, cerebellar ataxia, pyramidal signs & slurred speech","Mitochondrial complex I deficiency","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80224[geneid]~-~613621~-","NUBPL"]
["NUDC","Instability of lissencephaly protein 1","Lissencephaly","Risk",null,null,"HIGH","-~-~610325~-","NUDC"]
["NUDT1","Colorectal cancer","Colorectal Cancer","Autosomal Dominant",null,null,"HIGH","-~-~600312~-","NUDT1"]
["NUP155","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant","HIGH","-~-~606694~-","NUP155"]
["NUP62","Striatonigral degeneration, infantile","Striatonigral degeneration infantile","Autosomal Recessive","Striatonigral degeneration infantile:Autosomal Recessive","Striatonigral degeneration infantile:Autosomal Recessive","HIGH","-~-~605815~-","NUP62"]
["NXNL1","Leber congenital amaurosis","Leber's amaurosis","Risk",null,null,"HIGH","-~-~608791~-","NXNL1"]
["NYX","Myopia","Myopia","X-linked Recessive","Congenital stationary night blindness:X-linked Recessive$Night Blindness, Congenital Stationary, Type 1A:X-linked Recessive","Congenital stationary night blindness:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300278~-","NYX"]
["NYX","Night blindness, congenital stationary","Congenital stationary night blindness","X-linked Recessive","Congenital stationary night blindness:X-linked Recessive$Night Blindness, Congenital Stationary, Type 1A:X-linked Recessive","Congenital stationary night blindness:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300278~-","NYX"]
["NYX","Night blindness, congenital stationary 1","Congenital stationary night blindness","X-linked Recessive","Congenital stationary night blindness:X-linked Recessive$Night Blindness, Congenital Stationary, Type 1A:X-linked Recessive","Congenital stationary night blindness:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1245~300278~-","NYX"]
["OAS3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603351~-","OAS3"]
["OAT","Gyrate atrophy","Gyrate atrophy","Autosomal Recessive","Gyrate atrophy:Autosomal Recessive","Gyrate atrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4942[geneid]~-~613349~-","OAT"]
["OBSCN","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Risk",null,null,"HIGH","-~-~608616~-","OBSCN"]
["OBSCN","Glioblastoma","Glioblastoma","Risk",null,null,"HIGH","-~-~608616~-","OBSCN"]
["OBSL1","3-M syndrome","Three M Syndrome 2","Autosomal Recessive","Three M Syndrome 2:Autosomal Recessive","Three M Syndrome 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23363[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1481~610991~-","OBSL1"]
["OBSL1","Autism","Autistic Disorder","Risk","Three M Syndrome 2:Autosomal Recessive","Three M Syndrome 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23363[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1481~610991~-","OBSL1"]
["OCA2","Albinism, ocular","Ocular albinism","Autosomal Recessive","Brown oculocutaneous albinism:Autosomal Recessive$Tyrosinase-positive oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 1:Modifier","Brown oculocutaneous albinism:Autosomal Recessive$Tyrosinase-positive oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 1:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4948[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1232~611409~-","OCA2"]
["OCA2","Albinism, oculocutaneous","Brown oculocutaneous albinism","Autosomal Recessive","Brown oculocutaneous albinism:Autosomal Recessive$Tyrosinase-positive oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 1:Modifier","Brown oculocutaneous albinism:Autosomal Recessive$Tyrosinase-positive oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 1:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4948[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1232~611409~-","OCA2"]
["OCA2","Albinism, oculocutaneous II","Tyrosinase-positive oculocutaneous albinism","Autosomal Recessive","Brown oculocutaneous albinism:Autosomal Recessive$Tyrosinase-positive oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 1:Modifier","Brown oculocutaneous albinism:Autosomal Recessive$Tyrosinase-positive oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 1:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4948[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1232~611409~-","OCA2"]
["OCLN","Band-like calcification, simplified gyration & polymicrogyria","Pseudo-TORCH syndrome","Autosomal Recessive","Band-like calcification with simplified gyration and polymicrogyria:Autosomal Recessive$Pseudo-TORCH syndrome:Autosomal Recessive","Pseudo-TORCH syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100506658[geneid]~-~602876~-","OCLN"]
["OCRL","Dent disease","Dent Disease 2","X-linked Recessive","Dent disease 2:X-linked Recessive$Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4952[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1480$http://www.ncbi.nlm.nih.gov/books/NBK99494~300535~-","OCRL"]
["OCRL","Dent disease 2","Dent Disease 3","X-linked Recessive","Dent disease 2:X-linked Recessive$Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4952[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1480$http://www.ncbi.nlm.nih.gov/books/NBK99494~300535~-","OCRL"]
["OCRL","Lowe oculocerebrorenal syndrome","Lowe syndrome","X-linked Dominant","Dent disease 2:X-linked Recessive$Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4952[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1480$http://www.ncbi.nlm.nih.gov/books/NBK99494~300535~-","OCRL"]
["OCRL","Lowe oculocerebrorenal syndrome, without cataracts","Lowe syndrome","X-linked Dominant","Dent disease 2:X-linked Recessive$Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","Dent disease:X-linked Recessive$Lowe syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4952[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1480$http://www.ncbi.nlm.nih.gov/books/NBK99494~300535~-","OCRL"]
["ODC1","Increased expression","NULL","No disease association PMID 11103791","NULL","NULL","HIGH","-~-~165640~-","ODC1"]
["OFD1","Joubert syndrome","Joubert Syndrome 10;Familial aplasia of the vermis","X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Joubert syndrome 10:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive$Simpson-Golabi-Behmel Syndrome, Type 2:X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8481[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1188~300170~-","OFD1"]
["OFD1","Oral-facial-digital syndrome 1","Orofaciodigital syndrome type1;Oral-facial-digital syndrome","X-linked Dominant","Familial aplasia of the vermis:X-linked Recessive$Joubert syndrome 10:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive$Simpson-Golabi-Behmel Syndrome, Type 2:X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8481[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1188~300170~-","OFD1"]
["OFD1","Oral-facial-digital syndrome 6","Oral-facial-digital syndrome","X-linked Dominant","Familial aplasia of the vermis:X-linked Recessive$Joubert syndrome 10:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive$Simpson-Golabi-Behmel Syndrome, Type 2:X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8481[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1188~300170~-","OFD1"]
["OFD1","Retinitis pigmentosa, X-linked","X-linked retinitis pigmentosa","X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Joubert syndrome 10:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive$Simpson-Golabi-Behmel Syndrome, Type 2:X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8481[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1188~300170~-","OFD1"]
["OFD1","Simpson-Golabi-Behmel syndrome","Simpson-Golabi-Behmel syndrome","X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Joubert syndrome 10:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive$Simpson-Golabi-Behmel Syndrome, Type 2:X-linked Recessive","Familial aplasia of the vermis:X-linked Recessive$Oral-facial-digital syndrome:X-linked dominant$Simpson-Golabi-Behmel syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8481[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325$http://www.ncbi.nlm.nih.gov/books/NBK1188~300170~-","OFD1"]
["OGG1","Alzheimer disease","Alzheimer's disease","Risk","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4968[geneid]~-~601982~-","OGG1"]
["OGG1","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4968[geneid]~-~601982~-","OGG1"]
["OGG1","Head and neck cancer","Malignant tumor of head and neck","Risk","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4968[geneid]~-~601982~-","OGG1"]
["OGG1","Multiple colorectal adenoma","Adenoma of large intestine","Risk","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","Hypernephroma:Autosomal Dominant$Clear cell carcinoma of kidney:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4968[geneid]~-~601982~-","OGG1"]
["OLFM2","Glaucoma, open angle","Open-angle glaucoma","Risk",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=93145[geneid]~-~-~-","OLFM2"]
["OMG","Mental retardation","Mental retardation","Autosomal Dominant",null,null,"HIGH","-~-~164345~-","OMG"]
["OPA1","Multiple mitochondrial DNA deletion disorder","Deletion and duplication of mitochondrial DNA","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy","Dominant hereditary optic atrophy","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy & deafness","Dominant hereditary optic atrophy;Deafness","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy & diabetes","Dominant hereditary optic atrophy;Diabetes mellitus","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy & spastic paraplegia","Dominant hereditary optic atrophy;Spastic paraplegia","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy 1","Dominant hereditary optic atrophy","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy 1 plus","3-Methylglutaconic aciduria type 3","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy, acute & late onset","Dominant hereditary optic atrophy","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy, ataxia & neuropathy","Dominant hereditary optic atrophy;Ataxia;Neuropathy","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic atrophy, deafness & ataxia","Dominant hereditary optic atrophy;Deafness;Ataxia","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Optic neuropathy","Inherited optic neuropathy","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Progressive external ophthalmoplegia","Progressive external ophthalmoplegia","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Progressive external ophthalmoplegia & ataxia","Progressive external ophthalmoplegia;Ataxia","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA1","Progressive external ophthalmoplegia & deafness","Progressive external ophthalmoplegia;Deafness","Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic Atrophy 1:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4976[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1248~605290~-","OPA1"]
["OPA3","3-methylglutaconicaciduria, type III","3-Methylglutaconic aciduria type 3","Autosomal Dominant","3-Methylglutaconic aciduria type 3:Autosomal Recessive$Dominant hereditary optic atrophy:Autosomal Dominant$Optic atrophy and cataract, Autosomal Dominant:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic atrophy and cataract, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80207[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1473~606580~-","OPA3"]
["OPA3","Optic atrophy and cataract","Dominant hereditary optic atrophy;Cataract","Autosomal Dominant","3-Methylglutaconic aciduria type 3:Autosomal Recessive$Dominant hereditary optic atrophy:Autosomal Dominant$Optic atrophy and cataract, Autosomal Dominant:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic atrophy and cataract, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80207[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1473~606580~-","OPA3"]
["OPA3","Optic atrophy, chorea, cerebellar ataxia & dystonia","Dominant hereditary optic atrophy;Chorea;Ataxia;Dystonia","Autosomal Dominant","3-Methylglutaconic aciduria type 3:Autosomal Recessive$Dominant hereditary optic atrophy:Autosomal Dominant$Optic atrophy and cataract, Autosomal Dominant:Autosomal Dominant","Dominant hereditary optic atrophy:Autosomal Dominant$Optic atrophy and cataract, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80207[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1473~606580~-","OPA3"]
["OPHN1","Autism spectrum disorder","Autistic Disorder","Risk","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4983[geneid]~-~300127~-","OPHN1"]
["OPHN1","Cerebellar hypoplasia","Congenital cerebellar hypoplasia","X-linked Dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4983[geneid]~-~300127~-","OPHN1"]
["OPHN1","Developmental delay","Developmental delay","X-linked Dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4983[geneid]~-~300127~-","OPHN1"]
["OPHN1","Mental retardation and cerebellar hypoplasia","Mental retardation;Congenital cerebellar hypoplasia","X-linked Dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4983[geneid]~-~300127~-","OPHN1"]
["OPHN1","Mental retardation syndrome, X-linked","Mental retardation","X-linked Dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4983[geneid]~-~300127~-","OPHN1"]
["OPHN1","Mental retardation, X-linked","Mental retardation","X-linked Dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4983[geneid]~-~300127~-","OPHN1"]
["OPHN1","Schizophrenia, childhood onset","Schizophrenia, Childhood","Risk","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4983[geneid]~-~300127~-","OPHN1"]
["OPN1LW","Altered absorption spectrum","NULL","No disease association PMID 15252758","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300822~-","OPN1LW"]
["OPN1LW","Blue cone monochromatism","Cone monochromatism","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300822~-","OPN1LW"]
["OPN1LW","Cone-rod dystrophy, X-linked","Cone-Rod Dystrophy, X-Linked","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300822~-","OPN1LW"]
["OPN1LW","Protan colour-vision defect","Protan defect","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300822~-","OPN1LW"]
["OPN1LW","Protanomaly","Protan defect","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300822~-","OPN1LW"]
["OPN1LW","Protanopia","Protan defect","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300822~-","OPN1LW"]
["OPN1MW","Cone-rod dystrophy, X-linked","Cone-Rod Dystrophy, X-Linked","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Deutan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300821~-","OPN1MW"]
["OPN1MW","Deuteranopia","Deutan defect","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Deutan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300821~-","OPN1MW"]
["OPN1MW","Protan colour-vision defect","Protan defect","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Deutan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300821~-","OPN1MW"]
["OPN1MW","Trichromacy, deutan","Deutan defect","X-linked Recessive","Cone monochromatism:X-linked Recessive$Blue cone monochromatism:X-linked Recessive$Deutan defect:X-linked Recessive","Cone monochromatism:X-linked Recessive$Protan defect:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1301~300821~-","OPN1MW"]
["OPN1SW","Tritanopia","Tritanopia","X-linked Recessive","Tritanopia:Autosomal Dominant","Tritanopia:Autosomal Dominant","HIGH","-~-~613522~-","OPN1SW"]
["OPRL1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602548~-","OPRL1"]
["OPRM1","Altered trafficking and/or signalling","Response to pain","Modifier","Response to pain:Modifier$Drug Response:Modifer","Response to pain:Modifier$Drug Response:Modifer","HIGH","-~-~600018~-","OPRM1"]
["OPRM1","Decreased receptor expression","Drug Response","Pharmacogenetic","Response to pain:Modifier$Drug Response:Modifer","Response to pain:Modifier$Drug Response:Modifer","HIGH","-~-~600018~-","OPRM1"]
["OPRM1","Impaired receptor signalling","Drug dependence;Drug Response","Modifier","Response to pain:Modifier$Drug Response:Modifer","Response to pain:Modifier$Drug Response:Modifer","HIGH","-~-~600018~-","OPRM1"]
["OPRM1","Reduced agonist potency","Drug Response","Pharmacogenetic","Response to pain:Modifier$Drug Response:Modifer","Response to pain:Modifier$Drug Response:Modifer","HIGH","-~-~600018~-","OPRM1"]
["OPRM1","Reduced expression","Drug dependence;Drug Response","Modifier","Response to pain:Modifier$Drug Response:Modifer","Response to pain:Modifier$Drug Response:Modifer","HIGH","-~-~600018~-","OPRM1"]
["OPTC","Glaucoma, primary open angle","Open-angle glaucoma","Autosomal Dominant",null,null,"HIGH","-~-~605127~-","OPTC"]
["OPTN","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Glaucoma 1, Open Angle, E:Autosomal Dominant$Open-angle glaucoma:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Open-angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10133[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~602432~-","OPTN"]
["OPTN","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Glaucoma 1, Open Angle, E:Autosomal Dominant$Open-angle glaucoma:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Open-angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10133[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~602432~-","OPTN"]
["OPTN","Glaucoma 1, open angle","Open-angle glaucoma","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Glaucoma 1, Open Angle, E:Autosomal Dominant$Open-angle glaucoma:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Open-angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10133[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~602432~-","OPTN"]
["OPTN","Paget disease of bone, reduced risk","Osteitis Deformans","Decreased Risk","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Glaucoma 1, Open Angle, E:Autosomal Dominant$Open-angle glaucoma:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Recessive$Open-angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10133[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~602432~-","OPTN"]
["OR10C1","Olfactory receptor deficiency","NULL","No disease association PMID 12730696","NULL","NULL",null,"-~-~-~-","OR10C1"]
["OR10C1","Olfactory receptor deficiency","NULL","No particular disorder associated","NULL","NULL",null,"-~-~~-","OR10C1"]
["OR10V1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","OR10V1"]
["OR10X1","Olfactory receptor deficiency","NULL","No disease association PMID 12730696","NULL","NULL",null,"-~-~-~-","OR10X1"]
["OR10X1","Olfactory receptor deficiency","NULL","No particular disorder associated","NULL","NULL",null,"-~-~~-","OR10X1"]
["OR13H1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","OR13H1"]
["OR1B1","Olfactory receptor deficiency","NULL","No disease association PMID 12730696","NULL","NULL",null,"-~-~-~-","OR1B1"]
["OR1B1","Olfactory receptor deficiency","NULL","No particular disorder associated","NULL","NULL",null,"-~-~~-","OR1B1"]
["OR1J1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","OR1J1"]
["OR2J3","Altered cis-3-hexen-1-ol detection","Smell Perception","Modifier","Smell Perception:Modifier","Smell Perception:Modifier","HIGH","-~-~615016~-","OR2J3"]
["OR2M2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","OR2M2"]
["OR4M2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","OR4M2"]
["OR51G1","Olfactory receptor deficiency","NULL","No disease association PMID 12730696","NULL","NULL",null,"-~-~-~-","OR51G1"]
["OR51G1","Olfactory receptor deficiency","NULL","No particular disorder associated","NULL","NULL",null,"-~-~~-","OR51G1"]
["OR52N4","Olfactory receptor deficiency","NULL","No disease association PMID 12730696","NULL","NULL",null,"-~-~-~-","OR52N4"]
["OR52N4","Olfactory receptor deficiency","NULL","No particular disorder associated","NULL","NULL",null,"-~-~~-","OR52N4"]
["OR5AC2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81050[geneid]~-~-~-","OR5AC2"]
["OR5H6","Olfactory receptor deficiency","NULL","No disease association PMID 12730696","NULL","NULL",null,"-~-~-~-","OR5H6"]
["OR5H6","Olfactory receptor deficiency","NULL","No particular disorder associated","NULL","NULL",null,"-~-~~-","OR5H6"]
["OR8H1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=219469[geneid]~-~-~-","OR8H1"]
["OR8K3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","OR8K3"]
["ORC1L","Meier-Gorlin syndrome","Meier-Gorlin syndrome","Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4998[geneid]~-~601902~-","ORC1"]
["ORC1L","Microcephalic primordial dwarfism","Primordial dwarfism","Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4998[geneid]~-~601902~-","ORC1"]
["ORC4L","Lymphoproliferative disorder","Malignant lymphoma, large B-cell, diffuse","Autosomal Dominant","Meier-Gorlin syndrome:Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5000[geneid]~-~603056~-","ORC4"]
["ORC4L","Meier-Gorlin syndrome","Meier-Gorlin syndrome","Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5000[geneid]~-~603056~-","ORC4"]
["ORC6L","Meier-Gorlin syndrome","Meier-Gorlin syndrome","Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","Meier-Gorlin syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23594[geneid]~-~607213~-","ORC6"]
["OSGIN1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607975~-","OSGIN1"]
["OSMR","Amyloidosis, primary cutaneous","Cutaneous amyloidosis","Autosomal Dominant","Familial lichen amyloidosis:Autosomal Dominant","Familial lichen amyloidosis:Autosomal Dominant","HIGH","-~-~601743~-","OSMR"]
["OSTM1","Osteopetrosis, Autosomal Recessive","Osteopetrosis","Autosomal Recessive","Osteopetrosis:Autosomal Recessive$Osteopetrosis, Autosomal Recessive 5:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~607649~-","OSTM1"]
["OSTM1","Osteopetrosis, craniosynostosis, and Chiari malformation type I","Osteopetrosis","Autosomal Recessive","Osteopetrosis, Autosomal Recessive 5:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~607649~-","OSTM1"]
["OTC","Hyperammonaemia","Hyperammonemia","X-linked Dominant","Ornithine carbamoyltransferase deficiency:X-linked dominant","Ornithine carbamoyltransferase deficiency:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5009[geneid]~-~300461~-","OTC"]
["OTC","Ornithine transcarbamylase deficiency","Ornithine carbamoyltransferase deficiency","X-linked Dominant","Ornithine carbamoyltransferase deficiency:X-linked dominant","Ornithine carbamoyltransferase deficiency:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5009[geneid]~-~300461~-","OTC"]
["OTOA","Deafness, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 22:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=146183[geneid]~-~607038~-","OTOA"]
["OTOA","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 22:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=146183[geneid]~-~607038~-","OTOA"]
["OTOF","Auditory neuropathy","Auditory neuropathy spectrum disorder","Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness, Autosomal Recessive 9:Autosomal Recessive$Deafness:Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1251~603681~-","OTOF"]
["OTOF","Auditory neuropathy spectrum disorder","Auditory neuropathy spectrum disorder","Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness, Autosomal Recessive 9:Autosomal Recessive$Deafness:Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1251~603681~-","OTOF"]
["OTOF","Auditory neuropathy, temperature-sensitive","Auditory neuropathy spectrum disorder","Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness, Autosomal Recessive 9:Autosomal Recessive$Deafness:Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1251~603681~-","OTOF"]
["OTOF","Deafness, Autosomal Recessive 9","Deafness","Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness, Autosomal Recessive 9:Autosomal Recessive$Deafness:Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1251~603681~-","OTOF"]
["OTOF","Deafness, non-syndromic","Deafness","Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness, Autosomal Recessive 9:Autosomal Recessive$Deafness:Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1251~603681~-","OTOF"]
["OTOF","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness, Autosomal Recessive 9:Autosomal Recessive$Deafness:Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1251~603681~-","OTOF"]
["OTOF","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness, Autosomal Recessive 9:Autosomal Recessive$Deafness:Autosomal Recessive","Auditory neuropathy spectrum disorder:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1251~603681~-","OTOF"]
["OTOGL","Autism spectrum disorder","Autistic Disorder","Risk","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~614925~-","OTOGL"]
["OTOGL","Deafness","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~614925~-","OTOGL"]
["OTOGL","Sensorineural hearing loss","Sensorineural hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~614925~-","OTOGL"]
["OTUD4","Autism spectrum disorder","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~611744~-","OTUD4"]
["OTUD4","Hypogonadotropic hypogonadism, ataxia & dementia","Hypogonadotropic hypogonadism;Ataxia;Dementia","Autosomal Recessive",null,null,"HIGH","-~-~611744~-","OTUD4"]
["OTX2","Anophthalmia & isolated growth hormone deficiency","Anophthalmos;Isolated somatotropin deficiency","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","Anophthalmia, bilateral","Anophthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","Anophthalmia/microphthalmia","Anophthalmos;Microphthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","GH deficiency & short stature","Isolated somatotropin deficiency;Short stature disorder","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","Ocular and/or pituitary abnormalities","Microphthalmia, Syndromic 5;Microphthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","Ocular malformations","Microphthalmia, Syndromic 5;Microphthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","Otocephaly","Otocephalic syndrome","Association inconclusive PMID 22577225","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","Pituitary hormone deficiency, combined","Isolated somatotropin deficiency","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OTX2","Retinal dystrophy, early onset","Retinal Dystrophy, Early Onset Severe","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 5:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Pituitary hormone deficiency, combined, 6:Autosomal Dominant$Retinal dystrophy, early-onset, and pituitary dysfunction:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~600037~-","OTX2"]
["OXCT1","3-oxoacid CoA transferase deficiency","Deficiency of 3-oxoacid CoA-transferase;Succinyl-CoA acetoacetate transferase deficiency","Autosomal Recessive","Succinyl-CoA acetoacetate transferase deficiency:Autosomal Recessive","Succinyl-CoA acetoacetate transferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5019[geneid]~-~601424~-","OXCT1"]
["OXCT1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Succinyl-CoA acetoacetate transferase deficiency:Autosomal Recessive","Succinyl-CoA acetoacetate transferase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5019[geneid]~-~601424~-","OXCT1"]
["P2RX1","Platelet ADP receptor defect","Blood coagulation disorder","Autosomal Dominant","Bleeding disorder due to P2RX1 defect:Autosomal Dominant$Blood coagulation disorder:Autosomal Dominant","Blood coagulation disorder:Autosomal Dominant","HIGH","-~-~600845~-","P2RX1"]
["P2RX2","Hearing loss, progressive","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 41:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~600844~-","P2RX2"]
["P2RX4","Increased pulse pressure","Arterial pulse pressure","Modifier","NULL","NULL","HIGH","-~-~600846~-","P2RX4"]
["P2RX4","Reduced expression","NULL","No disease association PMID 19953327","NULL","NULL","HIGH","-~-~600846~-","P2RX4"]
["P2RX4","Reduced expression","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~600846~-","P2RX4"]
["P2RX5","Allogenic cytotoxic T lymphocyte response","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~602836~-","P2RX5"]
["P2RX7","Altered function","NULL","No disease association PMID 12586825,20360457","NULL","NULL","HIGH","-~-~602566~-","P2RX7"]
["P2RX7","Altered function","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~602566~-","P2RX7"]
["P2RX7","Null allele","Immune response, function","Modifier",null,null,"HIGH","-~-~602566~-","P2RX7"]
["P2RX7","Null allele","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~602566~-","P2RX7"]
["P2RX7","Reduced function","Mood disorder","Risk",null,null,"HIGH","-~-~602566~-","P2RX7"]
["P2RY12","Platelet ADP receptor defect","Blood coagulation disorder;Bleeding Disorder Due To P2RY12 Defect","Autosomal Recessive","Bleeding Disorder Due To P2RY12 Defect:Autosomal Recessive$Blood coagulation disorder:Autosomal Recessive","Blood coagulation disorder:Autosomal Dominant","HIGH","-~-~600515~-","P2RY12"]
["P2RY5","Hypotrichosis","Hypotrichosis 8;Hypotrichosis","Autosomal Recessive","Hypotrichosis:Autosomal Recessive$Hypotrichosis, Localized, Autosomal Recessive, 3:Autosomal Recessive$Wooly hair:Autosomal Recessive","Hypotrichosis:Autosomal Recessive","HIGH","-~-~609239~-","LPAR6"]
["P2RY5","Woolly hair","Wooly hair","Autosomal Recessive","Hypotrichosis:Autosomal Recessive$Hypotrichosis, Localized, Autosomal Recessive, 3:Autosomal Recessive$Wooly hair:Autosomal Recessive","Hypotrichosis:Autosomal Recessive","HIGH","-~-~609239~-","LPAR6"]
["PABPN1","Oculopharyngeal muscular dystrophy","Oculopharyngeal muscular dystrophy","Autosomal Dominant","Oculopharyngeal muscular dystrophy:Autosomal Dominant","Oculopharyngeal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8106[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1126~602279~-","PABPN1"]
["PACS1","Intellectual disability","Intellectual Disability","Risk","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~607492~-","PACS1"]
["PACS1","Intellectual disability","Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","-~-~607492~-","PACS1"]
["PACT","Dystonia-parkinsonism","Dystonia 16;Dystonia","Autosomal Dominant","Dystonia 16:Autosomal Dominant$Dystonia:Autosomal Dominant$Dystonia 16:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive","HIGH","-~-~603424~-","PRKRA"]
["PACT","Dystonia-parkinsonism","Dystonia 16;Dystonia","Autosomal Recessive","Dystonia 16:Autosomal Dominant$Dystonia:Autosomal Dominant$Dystonia 16:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive","HIGH","-~-~603424~-","PRKRA"]
["PACT","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Dystonia 16:Autosomal Dominant$Dystonia:Autosomal Dominant$Dystonia 16:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia:Autosomal Dominant$Dystonia:Autosomal Recessive","HIGH","-~-~603424~-","PRKRA"]
["PAFAH1B1","Lissencephaly with cerebellar hypoplasia","Type 1 lissencephaly","Autosomal Dominant","Classic Lissencephaly:Autosomal Dominant$Lissencephaly 1:Autosomal Dominant$Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5189~601545~-","PAFAH1B1"]
["PAFAH1B1","Lissencephaly, isolated","Type 1 lissencephaly","Autosomal Dominant","Classic Lissencephaly:Autosomal Dominant$Lissencephaly 1:Autosomal Dominant$Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5189~601545~-","PAFAH1B1"]
["PAFAH1B1","Miller-Dieker lissencephaly syndrome","Miller Dieker syndrome","Autosomal Dominant","Classic Lissencephaly:Autosomal Dominant$Lissencephaly 1:Autosomal Dominant$Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5189~601545~-","PAFAH1B1"]
["PAFAH1B1","Subcortical band heterotopia","Subcortical Band Heterotopia","Autosomal Dominant","Classic Lissencephaly:Autosomal Dominant$Lissencephaly 1:Autosomal Dominant$Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","Lissencephaly:Autosomal Dominant$Subcortical Band Heterotopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5189~601545~-","PAFAH1B1"]
["PAH","Hyperphenylalaninaemia","Hyperphenylalaninemia","Autosomal Recessive","Classical phenylketonuria:Autosomal Recessive$Phenylketonuria:Autosomal Recessive$Hyperphenylalaninemia, Non-Pku Mild:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive","Phenylketonuria:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5053[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1504~612349~-","PAH"]
["PAH","Phenylketonuria","Classical phenylketonuria","Autosomal Recessive","Classical phenylketonuria:Autosomal Recessive$Phenylketonuria:Autosomal Recessive$Hyperphenylalaninemia, Non-Pku Mild:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive","Phenylketonuria:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5053[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1504~612349~-","PAH"]
["PAK3","Mental retardation syndrome, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8874[geneid]~-~605477~-","ARHGEF7"]
["PAK3","Mental retardation with neuropsychiatric features","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8874[geneid]~-~605477~-","ARHGEF7"]
["PALB2","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Risk","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Breast and/or pancreatic cancer","NULL","No significant disease association PMID 21365267","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Breast cancer","Malignant tumor of breast","Risk","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Breast cancer, male","NULL","Need full text PMID 20180015","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Fanconi anaemia, N type","Fanconi Anemia, Complementation Group N;Fanconi's anemia","Autosomal Recessive","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Multiple cancers","Multiple malignancy","Risk","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Neuroblastoma","Neuroblastoma","Risk","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Ovarian carcinoma","Malignant tumor of ovary","Risk","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","Pancreatic cancer","Malignant tumor of pancreas","Risk","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PALB2","VACTERL with Fanconi anaemia","Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome;Fanconi's anemia","Autosomal Recessive","Fanconi Anemia, Complementation Group N:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~610355~-","PALB2"]
["PANK2","Dystonia, sudden-onset","Dystonia","Autosomal Recessive","HARP syndrome:Autosomal Recessive$Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Neurodegeneration with brain iron accumulation 1:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80025[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1490~606157~-","PANK2"]
["PANK2","HARP syndrome","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration","Autosomal Recessive","HARP syndrome:Autosomal Recessive$Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Neurodegeneration with brain iron accumulation 1:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80025[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1490~606157~-","PANK2"]
["PANK2","Neurodegeneration with brain iron accumulation","Pigmentary pallidal degeneration","Autosomal Recessive","HARP syndrome:Autosomal Recessive$Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Neurodegeneration with brain iron accumulation 1:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80025[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1490~606157~-","PANK2"]
["PANK2","Pantothenate kinase-associated neurodegeneration, atypical","Hallervorden-Spatz Syndrome","Autosomal Recessive","HARP syndrome:Autosomal Recessive$Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Neurodegeneration with brain iron accumulation 1:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80025[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1490~606157~-","PANK2"]
["PANK2","Retinal telangiectasis","Exudative retinopathy","Autosomal Recessive","HARP syndrome:Autosomal Recessive$Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Neurodegeneration with brain iron accumulation 1:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration:Autosomal Recessive$Pigmentary pallidal degeneration:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80025[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1490~606157~-","PANK2"]
["PAPSS2","Brachyolmia","Brachyolmia","Autosomal Recessive","Brachyolmia:Autosomal Recessive$Spondylodysplasia And Premature Pubarche:Autosomal Recessive","Brachyolmia:Autosomal Recessive","HIGH","-~-~603005~-","PAPSS2"]
["PAPSS2","Premature pubarche","Precocious pubarche","Autosomal Recessive","Brachyolmia:Autosomal Recessive$Spondylodysplasia And Premature Pubarche:Autosomal Recessive","Brachyolmia:Autosomal Recessive","HIGH","-~-~603005~-","PAPSS2"]
["PAPSS2","Spondyloepiphyseal dysplasia","Spondyloepiphyseal dysplasia congenita","Autosomal Recessive","Brachyolmia:Autosomal Recessive$Spondylodysplasia And Premature Pubarche:Autosomal Recessive","Brachyolmia:Autosomal Recessive","HIGH","-~-~603005~-","PAPSS2"]
["PARK2","Dementia with Lewy bodies","Diffuse Lewy body disease","Risk","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Dystonia, dopa-responsive","Dystonia, Dopa-responsive","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Parkinson disease","Juvenile Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Parkinson disease with resting leg tremor","Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Parkinson disease, Autosomal Recessive","Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Parkinson disease, early-onset","Juvenile Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Parkinson disease, late-onset","Parkinson's disease","Autosomal Dominant","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Parkinson disease, sporadic, reduced risk","Parkinson's disease","Decreased Risk","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK2","Parkinsonism, juvenile, Autosomal Recessive","Juvenile Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1478$http://www.ncbi.nlm.nih.gov/books/NBK1223~602544~-","PARK2"]
["PARK7","Parkinson disease","Parkinson's disease","Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Parkinson Disease 7, Autosomal Recessive Early-Onset:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223~602533~-","PARK7"]
["PARK7","Parkinson disease, Autosomal Recessive","Parkinson's disease","Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Parkinson Disease 7, Autosomal Recessive Early-Onset:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223~602533~-","PARK7"]
["PARK7","Parkinson disease, early onset","Parkinson's disease","Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Parkinson Disease 7, Autosomal Recessive Early-Onset:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223~602533~-","PARK7"]
["PARK7","Parkinsonism  & amyotrophic lateral sclerosis","Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1","Autosomal Recessive","Parkinson's disease:Autosomal Recessive$Parkinson Disease 7, Autosomal Recessive Early-Onset:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11315[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223~602533~-","PARK7"]
["parkin","Parkinson disease","Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223$http://www.ncbi.nlm.nih.gov/books/NBK1478~602544~-","PARK2"]
["parkin","Parkinson disease, Autosomal Recessive","Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223$http://www.ncbi.nlm.nih.gov/books/NBK1478~602544~-","PARK2"]
["parkin","Parkinson disease, early-onset","Juvenile Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223$http://www.ncbi.nlm.nih.gov/books/NBK1478~602544~-","PARK2"]
["parkin","Parkinson disease, late-onset","Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223$http://www.ncbi.nlm.nih.gov/books/NBK1478~602544~-","PARK2"]
["parkin","Parkinsonism, juvenile, Autosomal Recessive","Juvenile Parkinson's disease","Autosomal Recessive","Adenocarcinoma of lung:Autosomal Recessive$Ovarian adenocarcinoma:Autosomal Dominant$Autosomal Recessive Juvenile Parkinson Disease:Autosomal Recessive$Juvenile Parkinson's disease:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5071[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1223$http://www.ncbi.nlm.nih.gov/books/NBK1478~602544~-","PARK2"]
["PARL","Parkinson disease","Parkinson's disease","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55486[geneid]~-~607858~-","PARL"]
["PARP1","Breast cancer","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~173870~-","PARP1"]
["PARP1","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~173870~-","PARP1"]
["PARP2","Altered splicing","NULL","No disease association PMID 20011102","NULL","NULL","HIGH","-~-~607725~-","PARP2"]
["PARP2","Altered splicing","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~607725~-","PARP2"]
["PASK","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant",null,null,"HIGH","-~-~607505~-","PASK"]
["PAX3","Craniofacial-deafness-hand syndrome","Craniofacial deafness hand syndrome","Autosomal Dominant","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive$Waardenburg Syndrome Type 1:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Recessive","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1531~606597~-","PAX3"]
["PAX3","Waardenburg syndrome","Waardenburg's syndrome","Autosomal Dominant","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive$Waardenburg Syndrome Type 1:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Recessive","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1531~606597~-","PAX3"]
["PAX3","Waardenburg syndrome I","Waardenburg Syndrome Type 1","Autosomal Dominant","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive$Waardenburg Syndrome Type 1:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Recessive","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1531~606597~-","PAX3"]
["PAX3","Waardenburg syndrome III","Klein-Waardenberg's syndrome","Autosomal Dominant","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive$Waardenburg Syndrome Type 1:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Dominant$Klein-Waardenberg's syndrome:Autosomal Recessive","Craniofacial deafness hand syndrome:Autosomal Dominant$Alveolar rhabdomyosarcoma:Autosomal Recessive$Waardenburg's syndrome:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5077[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1531~606597~-","PAX3"]
["PAX4","Diabetes, ketosis-prone, increased risk","Type I diabetes mellitus","Risk","Type 1 diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 9:Autosomal Dominant","Type 1 diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5078[geneid]~-~167413~-","PAX4"]
["PAX4","Diabetes, MODY","Maturity onset diabetes mellitus in young","Autosomal Dominant","Type 1 diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 9:Autosomal Dominant","Type 1 diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5078[geneid]~-~167413~-","PAX4"]
["PAX4","Diabetes, type 2","Diabetes mellitus type 2","Autosomal Dominant","Type 1 diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant$Maturity-onset diabetes of the young, type 9:Autosomal Dominant","Type 1 diabetes mellitus:Autosomal Recessive$Diabetes mellitus type 2:Autosomal Dominant$Maturity onset diabetes mellitus in young:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5078[geneid]~-~167413~-","PAX4"]
["PAX5","Autism","Autistic Disorder","Risk","Malignant lymphoma, lymphoplasmacytic:Autosomal Dominant","Malignant lymphoma, lymphoplasmacytic:Autosomal Dominant","HIGH","-~-~167414~-","PAX5"]
["PAX6","Aniridia","Congenital aniridia","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Aniridia with cataract","Congenital aniridia;Cataract","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Autism","Autistic Disorder","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Bilateral microphthalmia","Microphthalmos","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Cataract, secondary glaucoma","Cataract;Secondary glaucoma","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Cataract, with nystagmus","Cataract;Nystagmus","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Coloboma of eye","Coloboma of eye","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Ectopia pupillae","Ectopic pupil","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Elliptical anterior iris stromal defects","Disorder of iris","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Foveal hypoplasia","Foveal hypoplasia","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Gillespie syndrome, atypical","Gillespie syndrome","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","High myopia","Severe myopia","Risk","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Keratitis, Autosomal Dominant","Keratitis","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Microcornea","Microcornea","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Nystagmus","Nystagmus","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Nystagmus with cataract & iris anomalies","Cataract;Nystagmus","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Ocular anterior segment anomaly","Morning glory disc anomaly","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Optic-nerve malformations","Coloboma of optic disc;Hypoplasia of the optic nerve","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Peters' anomaly","Irido-corneo-trabecular dysgenesis","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX6","Pineal gland, absence of","Pineal gland disorder","Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Ocular coloboma:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","Aniridia:Autosomal Dominant$Cataract:Autosomal Dominant$Coloboma of optic disc:Autosomal Dominant$Foveal Hypoplasia:Autosomal Dominant$Gillespie syndrome:Autosomal Recessive$Keratitis:Autosomal Dominant$Morning glory disc anomaly:Autosomal Dominant$Hypoplasia of the optic nerve:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5080[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1360~607108~-","PAX6"]
["PAX8","Hypothyroidism","Hypothyroidism","Autosomal Dominant","Hypothyroidism:Autosomal Dominant","Hypothyroidism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7849[geneid]~-~167415~-","PAX8"]
["PAX8","Hypothyroidism, early onset, non-autoimmune","Hypothyroidism","Autosomal Dominant","Hypothyroidism:Autosomal Dominant","Hypothyroidism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7849[geneid]~-~167415~-","PAX8"]
["PAX8","PAX8 variant","Hypothyroidism","Autosomal Dominant","Hypothyroidism:Autosomal Dominant","Hypothyroidism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7849[geneid]~-~167415~-","PAX8"]
["PAX8","Thyroid dysgenesis","Thyroid Dysgenesis","Autosomal Dominant","Hypothyroidism:Autosomal Dominant","Hypothyroidism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7849[geneid]~-~167415~-","PAX8"]
["PAX8","Thyroid hypoplasia","Hypoplasia of thyroid","Autosomal Dominant","Hypothyroidism:Autosomal Dominant","Hypothyroidism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7849[geneid]~-~167415~-","PAX8"]
["PAX9","Cleft lip with or without cleft palate, nonsyndromic","Nonsyndromic cleft lip with or without cleft palate","Autosomal Dominant","Tooth Agenesis, Selective, 3:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypodontia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5083[geneid]~-~167416~-","PAX9"]
["PAX9","Hypodontia","Tooth Agenesis, Selective, 3","Autosomal Dominant","Tooth Agenesis, Selective, 3:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypodontia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5083[geneid]~-~167416~-","PAX9"]
["PAX9","Oligodontia","Tooth Agenesis, Selective, 3","Autosomal Dominant","Tooth Agenesis, Selective, 3:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypodontia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5083[geneid]~-~167416~-","PAX9"]
["PAX9","Oligodontia, molar","Tooth Agenesis, Selective, 3","Autosomal Dominant","Tooth Agenesis, Selective, 3:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypodontia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5083[geneid]~-~167416~-","PAX9"]
["PAX9","Oligodontia/hypodontia","Tooth Agenesis, Selective, 3","Autosomal Dominant","Tooth Agenesis, Selective, 3:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypodontia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5083[geneid]~-~167416~-","PAX9"]
["PAX9","Tooth agenesis","Tooth Agenesis, Familial","Autosomal Dominant","Tooth Agenesis, Selective, 3:Autosomal Dominant$Hypodontia:Autosomal Dominant","Hypodontia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5083[geneid]~-~167416~-","PAX9"]
["PBX3","Congenital heart defects","Congenital heart disease","Risk",null,null,"HIGH","-~-~176312~-","PBX3"]
["PBX4","Congenital heart defects","Congenital heart disease","Risk",null,null,"HIGH","-~-~608127~-","PBX4"]
["PC","Hyperinsulinism","Hyperinsulinism","Risk","Pyruvate carboxylase deficiency:Autosomal Recessive$Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Pyruvate carboxylase deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5091[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6852~608786~-","PC"]
["PC","Pyruvate carboxylase deficiency","Pyruvate carboxylase deficiency","Autosomal Recessive","Pyruvate carboxylase deficiency:Autosomal Recessive$Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Pyruvate carboxylase deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5091[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6852~608786~-","PC"]
["PC","Pyruvate carboxylase deficiency, type B","Pyruvate carboxylase deficiency","Autosomal Recessive","Pyruvate carboxylase deficiency:Autosomal Recessive$Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Pyruvate carboxylase deficiency:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5091[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6852~608786~-","PC"]
["PCBD1","Hyperphenylalaninaemia","Hyperphenylalaninemia","Autosomal Recessive","Hyperphenylalaninemia with primapterinuria:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5092[geneid]~-~126090~-","PCBD1"]
["PCCA","Propionic acidaemia","Propionic acidemia","Autosomal Dominant","Propionic acidemia:Autosomal Recessive$Propionic acidemia:Autosomal Dominant","Propionic acidemia:Autosomal Recessive$Propionic acidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5095[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92946~232000~-","PCCA"]
["PCCA","Propionic acidaemia","Propionic acidemia","Autosomal Recessive","Propionic acidemia:Autosomal Recessive$Propionic acidemia:Autosomal Dominant","Propionic acidemia:Autosomal Recessive$Propionic acidemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5095[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92946~232000~-","PCCA"]
["PCCB","Propionic acidaemia","Propionic acidemia","Autosomal Recessive","Propionic acidemia:Autosomal Recessive","Propionic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK92946~232050~-","PCCB"]
["PCDH15","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 23:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1F:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605514~-","PCDH15"]
["PCDH15","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 23:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1F:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605514~-","PCDH15"]
["PCDH15","Usher syndrome 1","Usher syndrome, type 1D","Autosomal Dominant","Deafness, Autosomal Recessive 23:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1F:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605514~-","PCDH15"]
["PCDH15","Usher syndrome 1f","Usher syndrome, type 1F","Autosomal Dominant","Deafness, Autosomal Recessive 23:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1F:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605514~-","PCDH15"]
["PCDH15","Usher syndrome 1f","Usher syndrome, type 1F","Autosomal Recessive","Deafness, Autosomal Recessive 23:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1D:Autosomal Recessive$Usher syndrome, type 1F:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605514~-","PCDH15"]
["PCDH19","Asperger syndrome","Asperger's disorder","Risk","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Dravet syndrome","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Epilepsy & mental retardation","Epilepsy;Mental retardation","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Epilepsy and mental retardation limited to females","Epilepsy, Female-Restricted, with Mental Retardation","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Epilepsy, early-onset","Epilepsy","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Epileptic encephalopathy","Early myoclonic encephalopathy","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Focal epilepsy","Partial seizure","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Focal seizures with secondary generalization","Focal episodic spike wave with secondary generalization","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Generalized tonic-clonic seizures","Tonic-clonic seizure","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH19","Tonic seizures","Tonic seizure","Autosomal Dominant","Epilepsy, Female-Restricted, with Mental Retardation:X-linked$Early myoclonic encephalopathy:X-linked","Early myoclonic encephalopathy:X-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57526[geneid]~-~300460~-","PCDH19"]
["PCDH21","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92211[geneid]~-~609502~-","CDHR1"]
["PCDH21","Retinal dystrophy","Retinal dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=92211[geneid]~-~609502~-","CDHR1"]
["PCDHA1","Autism","NULL","No entry in HGMD for this gene","NULL","NULL","HIGH","-~-~606307~-","PCDHA1"]
["PCDHA1","Autism","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~606307~-","PCDHA1"]
["PCDHA3","Restless legs syndrome","Restless legs","Risk","Restless legs:Risk","Restless legs:Risk","HIGH","-~-~606309~-","PCDHA3"]
["PCDHB16","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606345~-","PCDHB16"]
["PCDHB4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606330~-","PCDHB4"]
["PCM1","Schizophrenia","Schizophrenia","Autosomal Dominant","Papillary thyroid carcinoma:Autosomal Dominant","Papillary thyroid carcinoma:Autosomal Dominant","HIGH","-~-~600299~-","PCM1"]
["PCNT","Intellectual disability","Intellectual Disability","Risk","Osteodysplastic primordial dwarfism, type 2:Autosomal Recessive$Osteodysplastic primordial dwarfism:Autosomal Recessive","Osteodysplastic primordial dwarfism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5116[geneid]~-~605925~-","PCNT"]
["PCNT","Microcephalic osteodysplastic primordial dwarfism","Osteodysplastic primordial dwarfism, type 2","Autosomal Recessive","Osteodysplastic primordial dwarfism, type 2:Autosomal Recessive$Osteodysplastic primordial dwarfism:Autosomal Recessive","Osteodysplastic primordial dwarfism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5116[geneid]~-~605925~-","PCNT"]
["PCNT","Microcephalic osteodysplastic primordial dwarfism type 2","Osteodysplastic primordial dwarfism, type 2","Autosomal Recessive","Osteodysplastic primordial dwarfism, type 2:Autosomal Recessive$Osteodysplastic primordial dwarfism:Autosomal Recessive","Osteodysplastic primordial dwarfism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5116[geneid]~-~605925~-","PCNT"]
["PCNT","Seckel syndrome","Seckel syndrome","Autosomal Recessive","Osteodysplastic primordial dwarfism, type 2:Autosomal Recessive$Osteodysplastic primordial dwarfism:Autosomal Recessive","Osteodysplastic primordial dwarfism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5116[geneid]~-~605925~-","PCNT"]
["PCOLCE","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600270~-","PCOLCE"]
["PCSK1","Hyperphagia and obesity, early onset","Excessive eating - polyphagia;Obesity","Autosomal Recessive","Obesity:Autosomal Recessive","Obesity:Autosomal Recessive","HIGH","-~-~162150~-","PCSK1"]
["PCSK1","Obesity","Obesity","Autosomal Recessive","Obesity:Autosomal Recessive","Obesity:Autosomal Recessive","HIGH","-~-~162150~-","PCSK1"]
["PCSK1","Obesity and impaired prohormone processing","Obesity","Autosomal Recessive","Obesity:Autosomal Recessive","Obesity:Autosomal Recessive","HIGH","-~-~162150~-","PCSK1"]
["PCSK1","PCSK1 deficiency","Obesity","Autosomal Recessive","Obesity:Autosomal Recessive","Obesity:Autosomal Recessive","HIGH","-~-~162150~-","PCSK1"]
["PCSK1","Proprotein convertase 1/3 deficiency","Diarrhea, malabsorptive","Autosomal Recessive","Obesity:Autosomal Recessive","Obesity:Autosomal Recessive","HIGH","-~-~162150~-","PCSK1"]
["PCSK1","Reduced catalytic activity","Obesity","Risk","Obesity:Autosomal Recessive","Obesity:Autosomal Recessive","HIGH","-~-~162150~-","PCSK1"]
["PCSK1","Reduced specific activity","Obesity","Risk","Obesity:Autosomal Recessive","Obesity:Autosomal Recessive","HIGH","-~-~162150~-","PCSK1"]
["PCSK9","High LDL cholesterol","Serum LDL cholesterol level, high","Autosomal Dominant","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=255738[geneid]~-~607786~-","PCSK9"]
["PCSK9","Hypercholesterolaemia","Familial hypercholesterolemia","Autosomal Dominant","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=255738[geneid]~-~607786~-","PCSK9"]
["PCSK9","Hypercholesterolaemia, Autosomal Dominant","Familial hypercholesterolemia","Autosomal Dominant","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=255738[geneid]~-~607786~-","PCSK9"]
["PCSK9","Hypobetalipoproteinaemia","Hypo-beta-lipoproteinemia","Autosomal Dominant","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=255738[geneid]~-~607786~-","PCSK9"]
["PCSK9","Hypocholesterolaemia","Familial hypercholesterolemia","Autosomal Dominant","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=255738[geneid]~-~607786~-","PCSK9"]
["PCSK9","Low LDL cholesterol","Serum LDL cholesterol level, low","Autosomal Recessive","Familial hypercholesterolemia:Autosomal Dominant$Hypercholesterolemia:Autosomal Dominant","Hypercholesterolemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=255738[geneid]~-~607786~-","PCSK9"]
["PDCD1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600244~-","PDCD1"]
["PDCD10","Cerebral cavernous malformation","Cerebral Cavernous Malformations 3","Autosomal Dominant","Cerebral Cavernous Malformations 3:Autosomal Dominant$Cavernous hemangioma of brain:Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11235[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1293~609118~-","PDCD10"]
["PDCD10","Phenotype modifier","Cerebral Cavernous Malformations 3","Modifier","Cerebral Cavernous Malformations 3:Autosomal Dominant$Cavernous hemangioma of brain:Autosomal Dominant","Cavernous hemangioma of brain:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11235[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1293~609118~-","PDCD10"]
["PDE11A","ACTH-independent macronodular adrenocortical hyperplasia","Adrenal cortical adenoma","Risk","Pigmented Nodular Adrenocortical Disease, Primary, 2:Risk$Adrenal Cushing's syndrome:Risk","Adrenal Cushing's syndrome:Risk","HIGH","-~-~604961~-","PDE11A"]
["PDE11A","Adrenocortical adenoma","Adrenal cortical adenoma","Risk","Pigmented Nodular Adrenocortical Disease, Primary, 2:Risk$Adrenal Cushing's syndrome:Risk","Adrenal Cushing's syndrome:Risk","HIGH","-~-~604961~-","PDE11A"]
["PDE11A","Adrenocortical hyperplasia","Pigmented nodular adrenocortical disease, primary, 2","Risk","Pigmented Nodular Adrenocortical Disease, Primary, 2:Risk$Adrenal Cushing's syndrome:Risk","Adrenal Cushing's syndrome:Risk","HIGH","-~-~604961~-","PDE11A"]
["PDE11A","Adrenocortical tumours","Malignant neoplasm of adrenal cortex","Risk","Pigmented Nodular Adrenocortical Disease, Primary, 2:Risk$Adrenal Cushing's syndrome:Risk","Adrenal Cushing's syndrome:Risk","HIGH","-~-~604961~-","PDE11A"]
["PDE11A","Altered enzyme activity","Carcinoma in situ of testis","Risk","Pigmented Nodular Adrenocortical Disease, Primary, 2:Risk$Adrenal Cushing's syndrome:Risk","Adrenal Cushing's syndrome:Risk","HIGH","-~-~604961~-","PDE11A"]
["PDE4C","Hyperinsulism","Hyperinsulinism","Risk",null,null,"HIGH","-~-~600128~-","PDE4C"]
["PDE4D","Acrodysostosis","Acrodysostosis","Autosomal Dominant","Acrodysostosis 2, with or without hormone resistance:Autosomal Dominant$Acrodysostosis:Autosomal Dominant","Acrodysostosis:Autosomal Dominant","HIGH","-~-~600129~-","PDE4D"]
["PDE6A","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5145[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180071~-","PDE6A"]
["PDE6B","Nightblindness, stationary","Congenital stationary night blindness","Autosomal Dominant","Night Blindness, Congenital Stationary, Autosomal Dominant 2:Autosomal Dominant$Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180072~-","PDE6B"]
["PDE6B","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Night Blindness, Congenital Stationary, Autosomal Dominant 2:Autosomal Dominant$Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5158[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180072~-","PDE6B"]
["PDE6C","Achromatopsia","Achromatopsia","Autosomal Recessive","Cone Dystrophy 4:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","Cone dystrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600827~-","PDE6C"]
["PDE6C","Achromatopsia, Autosomal Recessive","Achromatopsia","Autosomal Recessive","Cone Dystrophy 4:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","Cone dystrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600827~-","PDE6C"]
["PDE6C","Cone dystrophy, early-onset","Cone dystrophy","Autosomal Recessive","Cone Dystrophy 4:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","Cone dystrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600827~-","PDE6C"]
["PDE6C","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Recessive","Cone Dystrophy 4:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","Cone dystrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~600827~-","PDE6C"]
["PDE6G","Retinitis pigmentosa, early-onset","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~180073~-","PDE6G"]
["PDE6H","Achromatopsia","Achromatopsia","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~601190~-","PDE6H"]
["PDE6H","Achromatopsia, Autosomal Recessive incomplete","Achromatopsia","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~601190~-","PDE6H"]
["PDE6H","Cone dystrophy","Cone dystrophy","Autosomal Recessive","Achromatopsia:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","Achromatopsia:Autosomal Recessive$Cone dystrophy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1418~601190~-","PDE6H"]
["PDE8B","Adrenal hyperplasia","Pigmented nodular adrenocortical disease, primary, 3","Autosomal Dominant","Pigmented nodular adrenocortical disease, primary, 3:Autosomal Dominant$Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","HIGH","-~-~603390~-","PDE8B"]
["PDE8B","Adrenal tumours","Neoplasm of adrenal gland","Risk","Pigmented nodular adrenocortical disease, primary, 3:Autosomal Dominant$Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","HIGH","-~-~603390~-","PDE8B"]
["PDE8B","Adrenocortical adenoma","Adrenal cortical adenoma","Risk","Pigmented nodular adrenocortical disease, primary, 3:Autosomal Dominant$Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","HIGH","-~-~603390~-","PDE8B"]
["PDE8B","Adrenocortical hyperplasia","Adrenocortical hyperplasia","Autosomal Dominant","Pigmented nodular adrenocortical disease, primary, 3:Autosomal Dominant$Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","HIGH","-~-~603390~-","PDE8B"]
["PDE8B","Striatal degeneration","Striatal Degeneration","Autosomal Dominant","Pigmented nodular adrenocortical disease, primary, 3:Autosomal Dominant$Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","Adrenal Cushing's syndrome:Autosomal Dominant$Striatal Degeneration:Autosomal Dominant","HIGH","-~-~603390~-","PDE8B"]
["PDGFRA","Cleft palate, isolated","Cleft palate","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5156[geneid]~-~173490~-","PDGFRA"]
["PDGFRA","Diaphragmatic hernia, congenital","Congenital diaphragmatic hernia","Autosomal Recessive","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5156[geneid]~-~173490~-","PDGFRA"]
["PDGFRA","Gastrointestinal stromal & other tumours","Gastrointestinal stromal tumor;Neoplasm","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5156[geneid]~-~173490~-","PDGFRA"]
["PDGFRA","Gastrointestinal stromal tumour","Gastrointestinal stromal tumor","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5156[geneid]~-~173490~-","PDGFRA"]
["PDGFRA","Hypereosinophilic syndrome","Idiopathic hypereosinophilic syndrome","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5156[geneid]~-~173490~-","PDGFRA"]
["PDGFRA","Imatinib resistance in hypereosinophilic syndrome","Idiopathic hypereosinophilic syndrome","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5156[geneid]~-~173490~-","PDGFRA"]
["PDGFRA","Vitiligo vulgaris","Vitiligo","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Idiopathic hypereosinophilic syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5156[geneid]~-~173490~-","PDGFRA"]
["PDGFRB","Basal ganglia calcification, idiopathic","Familial idiopathic basal ganglia calcification","Autosomal Dominant","Familial idiopathic basal ganglia calcification:Autosomal Dominant$Myeloproliferative disorder with eosinophilia:Autosomal Dominant$Myeloproliferative disorder with eosinophilia$Infantile myofibromatosis:Autosomal Dominant","Familial idiopathic basal ganglia calcification:Autosomal Dominant$Myeloproliferative disorder with eosinophilia:Autosomal Dominant$Myeloproliferative disorder with eosinophilia$Infantile myofibromatosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1421~173410~-","PDGFRB"]
["PDGFRB","Myofibromatosis, infantile","Infantile myofibromatosis","Autosomal Dominant","Familial idiopathic basal ganglia calcification:Autosomal Dominant$Myeloproliferative disorder with eosinophilia:Autosomal Dominant$Myeloproliferative disorder with eosinophilia$Infantile myofibromatosis:Autosomal Dominant","Familial idiopathic basal ganglia calcification:Autosomal Dominant$Myeloproliferative disorder with eosinophilia:Autosomal Dominant$Myeloproliferative disorder with eosinophilia$Infantile myofibromatosis:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1421~173410~-","PDGFRB"]
["PDHA1","Intellectual disability","Intellectual Disability","Risk","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5160[geneid]~-~300502~-","PDHA1"]
["PDHA1","Lactic acidosis","Lactic acidosis","X-linked Recessive","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5160[geneid]~-~300502~-","PDHA1"]
["PDHA1","Leigh syndrome","Leigh's disease","X-linked Recessive","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5160[geneid]~-~300502~-","PDHA1"]
["PDHA1","Pyruvate dehydrogenase deficiency","Pyruvate dehydrogenase complex deficiency","X-linked Dominant","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","Leigh's disease:X-linked Recessive$Pyruvate dehydrogenase complex deficiency:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5160[geneid]~-~300502~-","PDHA1"]
["PDHB","Leigh syndrome","Leigh's disease","Autosomal Recessive","Pyruvate Dehydrogenase E1-Beta Deficiency:Autosomal Recessive","Pyruvate Dehydrogenase E1-Beta Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5162[geneid]~-~179060~-","PDHB"]
["PDHB","Pyruvate dehydrogenase deficiency","Pyruvate dehydrogenase complex deficiency","Autosomal Recessive","Pyruvate Dehydrogenase E1-Beta Deficiency:Autosomal Recessive","Pyruvate Dehydrogenase E1-Beta Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5162[geneid]~-~179060~-","PDHB"]
["PDHX","Pyruvate dehydrogenase complex deficiency","Pyruvate dehydrogenase complex deficiency","Autosomal Recessive","Lactic acidemia:Autosomal Recessive","Lactic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8050[geneid]~-~608769~-","PDHX"]
["PDHX","Pyruvate dehydrogenase defect","Pyruvate dehydrogenase complex deficiency","Autosomal Recessive","Lactic acidemia:Autosomal Recessive","Lactic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8050[geneid]~-~608769~-","PDHX"]
["PDIA4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","PDIA4"]
["PDK3","Charcot-Marie-Tooth disease, X-linked","Charcot-Marie-Tooth disease","X-linked Dominant","Charcot-Marie-Tooth disease:X-linked dominant","Charcot-Marie-Tooth disease:X-linked dominant","HIGH","-~-~300906~-","PDK3"]
["PDLIM3","Cardiomyopathy, dilated","NULL","Negated by PMID 17254821","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27295[geneid]~-~605889~-","PDLIM3"]
["PDLIM3","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27295[geneid]~-~605889~-","PDLIM3"]
["PDP1","Pyruvate dehydrogenase phosphatase deficiency","Pyruvate dehydrogenase phosphatase deficiency","Autosomal Recessive","Pyruvate dehydrogenase phosphatase deficiency:Autosomal Recessive","Pyruvate dehydrogenase phosphatase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54704[geneid]~-~605993~-","PDP1"]
["PDSS1","OXPHOS deficiency","Coenzyme Q10 Deficiency","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23590[geneid]~-~607429~-","PDSS1"]
["PDSS2","Leigh syndrome with nephropathy and COQ10 deficiency","Leigh's disease;Nephropathy;Coenzyme Q10 Deficiency","Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","Coenzyme Q10 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57107[geneid]~-~610564~-","PDSS2"]
["PDX1","Diabetes mellitus, type 2","Diabetes mellitus type 2","Autosomal Dominant","Lactic acidemia:Autosomal Recessive","Lactic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3651[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447~600733~-","PDX1"]
["PDX1","Diabetes mellitus, type 2 & gestational","Diabetes mellitus type 2;Gestational diabetes mellitus","Autosomal Dominant","Lactic acidemia:Autosomal Recessive","Lactic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3651[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447~600733~-","PDX1"]
["PDX1","Diabetes, permanent neonatal","Diabetes Mellitus, Permanent Neonatal","Autosomal Recessive","Lactic acidemia:Autosomal Recessive","Lactic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3651[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447~600733~-","PDX1"]
["PDX1","Maturity onset diabetes mellitus in young","Maturity onset diabetes mellitus in young","Autosomal Dominant","Lactic acidemia:Autosomal Recessive","Lactic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3651[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447~600733~-","PDX1"]
["PDX1","Pancreatic agenesis","Pancreatic Agenesis, Congenital","Autosomal Recessive","Lactic acidemia:Autosomal Recessive","Lactic acidemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3651[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447~600733~-","PDX1"]
["PDYN","Cerebellar ataxia","Cerebellar ataxia","Autosomal Dominant","Spinocerebellar ataxia 23:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","-~-~131340~-","PDYN"]
["PDYN","Spinocerebellar ataxia 23","Spinocerebellar ataxia 23","Autosomal Dominant","Spinocerebellar ataxia 23:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","-~-~131340~-","PDYN"]
["PDZD7","Phenotype modifier in Usher syndrome","Usher syndrome, type 2C","Modifier","Usher syndrome, type 2C:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Usher syndrome:Autosomal Recessive","HIGH","-~-~612971~-","PDZD7"]
["PDZD7","Usher syndrome","Usher syndrome, type 2C","Modifier","Usher syndrome, type 2C:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Usher syndrome:Autosomal Recessive","HIGH","-~-~612971~-","PDZD7"]
["PECR","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~605843~-","PECR"]
["PEPD","Prolidase deficiency","Deficiency of prolidase","Autosomal Recessive","Deficiency of prolidase:Autosomal Recessive","Deficiency of prolidase:Autosomal Recessive","HIGH","-~-~613230~-","PEPD"]
["PER1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602260~-","PER1"]
["PER1","Increased sex hormone-binding globulin levels","Malignant tumor of prostate","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602260~-","PER1"]
["PER2","Familial advanced sleep phase syndrome","Advanced Sleep-Phase Syndrome, Familial","Autosomal Dominant","Sleep-wake schedule disorder, advanced phase type:Autosomal Dominant","Sleep-wake schedule disorder, advanced phase type:Autosomal Dominant","HIGH","-~-~603426~-","PER2"]
["PEX1","Altered gene expression","Zellweger syndrome","Modifier","Peroxisome Biogenesis Disorder, Complementation Group 1:Autosomal Recessive$Infantile Refsum disease:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5189[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602136~-","PEX1"]
["PEX1","Neonatal adrenoleukodystrophy","Neonatal adrenoleucodystrophy","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 1:Autosomal Recessive$Infantile Refsum disease:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5189[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602136~-","PEX1"]
["PEX1","Peroxisome biogenesis disorder","Peroxisome Biogenesis Disorder, Complementation Group 1","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 1:Autosomal Recessive$Infantile Refsum disease:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5189[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602136~-","PEX1"]
["PEX1","Refsum disease, infantile","Infantile Refsum's disease","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 1:Autosomal Recessive$Infantile Refsum disease:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5189[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602136~-","PEX1"]
["PEX1","Zellweger syndrome","Zellweger syndrome","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 1:Autosomal Recessive$Infantile Refsum disease:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5189[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602136~-","PEX1"]
["PEX10","Ataxia","Peroxisome Biogenesis Disorder, Complementation Group 6","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 6:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5192[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602859~-","PEX10"]
["PEX10","Neonatal adrenoleukodystrophy","Peroxisome Biogenesis Disorder, Complementation Group 6","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 6:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5192[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602859~-","PEX10"]
["PEX10","Zellweger syndrome","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 6","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 6:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5192[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~602859~-","PEX10"]
["PEX11B","Peroxisome biogenesis disorder","Peroxisome Biogenesis Disorder, Complementation Group 14","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 14:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8799[geneid]~-~603867~-","PEX11B"]
["PEX12","Peroxisome biogenesis disorder 3","Peroxisome Biogenesis Disorder, Complementation Group 3","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 3:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5193[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601758~-","PEX12"]
["PEX12","Zellweger syndrome","Zellweger syndrome","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 3:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5193[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601758~-","PEX12"]
["PEX13","Neonatal adrenoleukodystrophy","Peroxisome Biogenesis Disorder, Complementation Group 11","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 11:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5194[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601789~-","PEX13"]
["PEX13","Zellweger syndrome H","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 11","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 11:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5194[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601789~-","PEX13"]
["PEX14","Zellweger syndrome","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 13","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 13:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5195[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601791~-","PEX14"]
["PEX16","Peroxisome biogenesis disorder","Peroxisome Biogenesis Disorder, Complementation Group 8","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 8:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9409[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~603360~-","PEX16"]
["PEX16","Zellweger syndrome","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 8","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 8:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9409[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~603360~-","PEX16"]
["PEX16","Zellweger syndrome, complementation group D","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 8","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 8:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9409[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~603360~-","PEX16"]
["PEX19","Peroxisomal biogenesis disorder","Peroxisome Biogenesis Disorder, Complementation Group 12","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 12:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5824[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~600279~-","PEX19"]
["PEX19","Zellweger syndrome, complementation group J","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 12","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 12:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5824[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~600279~-","PEX19"]
["PEX26","Peroxisome biogenesis disorder","Peroxisome Biogenesis Disorder, Complementation Group 7","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 7:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55670[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~608666~-","PEX26"]
["PEX26","Refsum disease, infantile","Infantile Refsum's disease","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 7:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55670[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~608666~-","PEX26"]
["PEX26","Zellweger syndrome","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 7","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 7:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55670[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~608666~-","PEX26"]
["PEX3","Refsum disease, infantile","Infantile Refsum's disease","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 10:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8504[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~603164~-","PEX3"]
["PEX3","Zellweger syndrome G","Peroxisome Biogenesis Disorder, Complementation Group 10","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 10:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8504[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~603164~-","PEX3"]
["PEX5","Adrenoleukodystrophy","Adrenoleukodystrophy","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 2:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5830[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~600414~-","PEX5"]
["PEX5","Peroxisome biogenesis disorder","Peroxisome biogenesis disorder","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 2:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5830[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~600414~-","PEX5"]
["PEX5","Refsum disease, infantile","Infantile Refsum's disease","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 2:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5830[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~600414~-","PEX5"]
["PEX6","Neonatal adrenoleukodystrophy","Neonatal adrenoleucodystrophy;Peroxisome Biogenesis Disorder, Complementation Group 4","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 4:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601498~-","PEX6"]
["PEX6","Peroxisome biogenesis disorder","Peroxisome Biogenesis Disorder, Complementation Group 4","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 4:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601498~-","PEX6"]
["PEX6","Peroxisome biogenesis disorder 4","Peroxisome Biogenesis Disorder, Complementation Group 4","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 4:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601498~-","PEX6"]
["PEX6","Zellweger syndrome","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 4","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 4:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601498~-","PEX6"]
["PEX6","Zellweger syndrome C","Zellweger syndrome;Peroxisome Biogenesis Disorder, Complementation Group 4","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 4:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~601498~-","PEX6"]
["PEX7","Autism","Autistic Disorder","Risk","Peroxisome Biogenesis Disorder, Complementation Group 9:Autosomal Recessive$Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5191[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1353$http://www.ncbi.nlm.nih.gov/books/NBK1270~601757~-","PEX7"]
["PEX7","Refsum disease","Phytanic acid storage disease;Peroxisome Biogenesis Disorder, Complementation Group 9","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 9:Autosomal Recessive$Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5191[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1353$http://www.ncbi.nlm.nih.gov/books/NBK1270~601757~-","PEX7"]
["PEX7","Rhizomelic chondrodysplasia punctata","Rhizomelic chondrodysplasia punctata, type 1","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 9:Autosomal Recessive$Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","Rhizomelic chondrodysplasia punctata syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5191[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1353$http://www.ncbi.nlm.nih.gov/books/NBK1270~601757~-","PEX7"]
["PFKFB1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~311790~-","PFKFB1"]
["PFKM","Glycogen storage disease 7","Glycogen storage disease, type VII","Autosomal Recessive","Glycogen storage disease, type VII:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5213[geneid]~-~610681~-","PFKM"]
["PFKM","Phosphofructokinase deficiency","Muscle phosphofructokinase deficiency","Autosomal Recessive","Glycogen storage disease, type VII:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5213[geneid]~-~610681~-","PFKM"]
["PFN1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5216[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~176610~-","PFN1"]
["PGAM1","Phosphoglycerate mutase deficiency","Deficiency of phosphoglycerate mutase","Autosomal Recessive",null,null,"HIGH","-~-~172250~-","PGAM1"]
["PGAM2","Phosphoglycerate mutase deficiency","Glycogen storage disease type X;Deficiency of phosphoglycerate mutase","Autosomal Recessive","Glycogen storage disease type X:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5224[geneid]~-~612931~-","PGAM2"]
["PGAM2","Phosphoglycerate mutase deficiency, partial","Glycogen storage disease type X;Deficiency of phosphoglycerate mutase","Autosomal Dominant","Glycogen storage disease type X:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5224[geneid]~-~612931~-","PGAM2"]
["PGAP2","Hyperphosphatasia with mental retardation syndrome","Hyperphosphatasia with Mental Retardation","Autosomal Recessive","Hyperphosphatasia with Mental Retardation:Autosomal Recessive","Hyperphosphatasia with Mental Retardation:Autosomal Recessive","HIGH","-~-~615187~-","PGAP2"]
["PGAP2","Intellectual disability, Autosomal Recessive","Intellectual Disability","Autosomal Recessive","Hyperphosphatasia with Mental Retardation:Autosomal Recessive","Hyperphosphatasia with Mental Retardation:Autosomal Recessive","HIGH","-~-~615187~-","PGAP2"]
["PGD","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~172200~-","PGD"]
["PGK1","Phosphoglycerate kinase deficiency","Phosphoglycerate Kinase 1 Deficiency","X-linked Recessive","Phosphoglycerate Kinase 1 Deficiency:X-linked Recessive","Phosphoglycerate Kinase 1 Deficiency:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5230[geneid]~-~311800~-","PGK1"]
["PGLYRP2","Crohn's disease and ulcerative colitis, reduced risk","Crohn's disease;Ulcerative colitis","Decreased Risk",null,null,"HIGH","-~-~608199~-","PGLYRP2"]
["PGLYRP2","Crohn's disease, increased risk","Crohn's disease","Risk",null,null,"HIGH","-~-~608199~-","PGLYRP2"]
["PGLYRP4","Crohn's disease, increased risk","Crohn's disease","Risk",null,null,"HIGH","-~-~608198~-","PGLYRP4"]
["PGM1","Congenital disorder of glycosylation 1","Congenital disorder of glycosylation","Autosomal Recessive","Congenital disorder of glycosylation, type It:Autosomal Recessive$Glycogen Storage Disease XIV:Autosomal Recessive$Glycogen Storage Disease:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Glycogen Storage Disease:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~171900~-","PGM1"]
["PGM1","Phosphoglucomutase deficiency","Congenital disorder of glycosylation;Glycogen Storage Disease XIV","Autosomal Recessive","Congenital disorder of glycosylation, type It:Autosomal Recessive$Glycogen Storage Disease XIV:Autosomal Recessive$Glycogen Storage Disease:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Glycogen Storage Disease:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~171900~-","PGM1"]
["PGR","Insensitivity to mifepristone","NULL","No disease association PMID 10806733","NULL","NULL","HIGH","-~-~607311~-","PGR"]
["PGRMC1","Premature ovarian failure","Premature ovarian failure","X-linked Dominant",null,null,"HIGH","-~-~300435~-","PGRMC1"]
["PHACTR1","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~608723~-","PHACTR1"]
["PHC1","Primary microcephaly","Primary microcephaly","Autosomal Recessive","Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","-~-~602978~-","PHC1"]
["PHEX","Rickets, hypophosphataemic","Phosphopenic type rickets","X-linked Dominant","Phosphopenic type rickets:X-linked dominant","Phosphopenic type rickets:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK83985~300550~-","PHEX"]
["PHEX","Rickets, hypophosphataemic, X-linked","Phosphopenic type rickets","X-linked Dominant","Phosphopenic type rickets:X-linked dominant","Phosphopenic type rickets:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5251[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK83985~300550~-","PHEX"]
["PHF2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604351~-","PHF2"]
["PHF3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607789~-","PHF3"]
["PHF6","Borjeson-Forssman-Lehmann syndrome","Borjeson-Forssman-Lehmann syndrome","X-linked Recessive","Borjeson-Forssman-Lehmann syndrome:X-linked Recessive","Borjeson-Forssman-Lehmann syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84295[geneid]~-~300414~-","PHF6"]
["PHF8","Autism","Autistic Disorder","Risk","Siderius X-linked mental retardation syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23133[geneid]~-~300560~-","PHF8"]
["PHF8","X-linked mental retardation & cleft lip/palate","Mental retardation","X-linked Recessive","Siderius X-linked mental retardation syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23133[geneid]~-~300560~-","PHF8"]
["PHGDH","3-phosphoglycerate dehydrogenase deficiency","Phosphoglycerate Dehydrogenase Deficiency","Autosomal Recessive","Phosphoglycerate Dehydrogenase Deficiency:Autosomal Recessive","Phosphoglycerate Dehydrogenase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26227[geneid]~-~606879~-","PHGDH"]
["PHIP","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~612870~-","PHIP"]
["PHKA1","Phosphorylase kinase deficiency","Glycogen Storage Disease, Type IXD","X-linked Recessive","Glycogen Storage Disease, Type IXD:X-linked Recessive$Glycogen Storage Disease:X-linked Recessive","Glycogen Storage Disease:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~311870~-","PHKA1"]
["PHKA2","Liver glycogenosis 1","Glycogen storage disease, type IXA1","X-linked Recessive","Glycogen storage disease, type IXA:X-linked Recessive$Glycogen Storage Disease:X-linked Recessive","Glycogen Storage Disease:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~300798~-","PHKA2"]
["PHKA2","Liver glycogenosis 2","Glycogen Storage Disease, Type IXA2","X-linked Recessive","Glycogen storage disease, type IXA:X-linked Recessive$Glycogen Storage Disease:X-linked Recessive","Glycogen Storage Disease:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~300798~-","PHKA2"]
["PHKA2","Phosphorylase kinase deficiency","Deficiency of phosphorylase kinase","X-linked Recessive","Glycogen storage disease, type IXA:X-linked Recessive$Glycogen Storage Disease:X-linked Recessive","Glycogen Storage Disease:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~300798~-","PHKA2"]
["PHKA2","Phosphorylase kinase deficiency, hepatic","Glycogen phosphorylase kinase deficiency","X-linked Recessive","Glycogen storage disease, type IXA:X-linked Recessive$Glycogen Storage Disease:X-linked Recessive","Glycogen Storage Disease:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~300798~-","PHKA2"]
["PHKB","Liver glycogenosis","Glycogen Storage Disease IXB","Autosomal Recessive","Glycogen Storage Disease IXB:Autosomal Recessive$Glycogen Storage Disease:Autosomal Recessive","Glycogen Storage Disease:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~172490~-","PHKB"]
["PHKB","Phosphorylase kinase deficiency","Deficiency of phosphorylase kinase","Autosomal Recessive","Glycogen Storage Disease IXB:Autosomal Recessive$Glycogen Storage Disease:Autosomal Recessive","Glycogen Storage Disease:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~172490~-","PHKB"]
["PHKG2","Phosphorylase kinase deficiency","Glycogen Storage Disease IXC","Autosomal Recessive","Glycogen Storage Disease IXC:Autosomal Recessive$Glycogen Storage Disease:Autosomal Recessive","Glycogen Storage Disease:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK55061~172471~-","PHKG2"]
["PHOX2A","Central hypoventilation syndrome","Central alveolar hypoventilation syndrome","Risk","Fibrosis Of Extraocular Muscles, Congenital, 2:Autosomal Recessive$Fibrosis Of Extraocular Muscles:Autosomal Recessive","Fibrosis Of Extraocular Muscles:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=401[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1348~602753~-","PHOX2A"]
["PHOX2A","Fibrosis of extraocular muscles type 2","Fibrosis Of Extraocular Muscles, Congenital, 2","Autosomal Recessive","Fibrosis Of Extraocular Muscles, Congenital, 2:Autosomal Recessive$Fibrosis Of Extraocular Muscles:Autosomal Recessive","Fibrosis Of Extraocular Muscles:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=401[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1348~602753~-","PHOX2A"]
["PHOX2B","Central hypoventilation syndrome","Central alveolar hypoventilation syndrome","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Hirschsprung disease ganglioneuroblastoma:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Hirschsprung disease ganglioneuroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8929[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1427~603851~-","PHOX2B"]
["PHOX2B","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Hirschsprung disease ganglioneuroblastoma:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Hirschsprung disease ganglioneuroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8929[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1427~603851~-","PHOX2B"]
["PHOX2B","Neuroblastoma","Neuroblastoma","Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Hirschsprung disease ganglioneuroblastoma:Autosomal Dominant","Central alveolar hypoventilation syndrome:Autosomal Dominant$Hirschsprung disease ganglioneuroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8929[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1427~603851~-","PHOX2B"]
["PHYH","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive$Refsum disease:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Refsum disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5264[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1353~602026~-","PHYH"]
["PHYH","Refsum disease","Phytanic acid storage disease","Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Autosomal Recessive$Refsum disease:Autosomal Recessive","Mitochondrial complex I deficiency:Autosomal Recessive$Refsum disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5264[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1353~602026~-","PHYH"]
["PIAS1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603566~-","PIAS1"]
["PICALM","Colorectal cancer","Colorectal Cancer","Risk","T-cell acute lymphoblastic leukemia:Risk$Acute myeloid leukemia, disease:Autosomal Dominant","T-cell acute lymphoblastic leukemia:Risk$Acute myeloid leukemia, disease:Autosomal Dominant","HIGH","-~-~603025~-","PICALM"]
["PICK1","Globozoospermia","Globozoospermia","Autosomal Recessive",null,null,"HIGH","-~-~605926~-","PICK1"]
["PIEZO1","Xerocytosis, hereditary","Xerocytosis","Autosomal Dominant","Xerocytosis:Autosomal Dominant","Xerocytosis:Autosomal Dominant","HIGH","-~-~611184~-","PIEZO1"]
["PIEZO2","Arthrogryposis, distal, type 5","Oculomelic amyoplasia","Autosomal Recessive","Oculomelic amyoplasia:Autosomal Recessive","Oculomelic amyoplasia:Autosomal Recessive","HIGH","-~-~613629~-","PIEZO2"]
["PIF1","Breast cancer","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~610953~-","PIF1"]
["PIG38","Myasthenia gravis, adult-onset autoimmune","Myasthenia gravis, adult form","Autosomal Recessive",null,null,"HIGH","-~-~610914~-","ENOX1"]
["PIGA","Cleft palate, neonatal seizures, contractures and central nervous system malformations","Cleft palate;Neonatal seizures;Contractures;Congenital anomaly of central nervous system","X-linked Recessive","Multiple congenital anomalies-hypotonia-seizures syndrome 2:X-linked Recessive$Paroxysmal nocturnal hemoglobinuria:Autosomal Dominant","Multiple congenital anomalies-hypotonia-seizures syndrome 2:X-linked Recessive$Paroxysmal nocturnal hemoglobinuria:Autosomal Dominant","HIGH","-~-~311770~-","PIGA"]
["PIGL","Colobomas, heart defects, ichthyosiform dermatosis, mental retardation & ear anomalies","Zunich neuroectodermal syndrome","Autosomal Recessive","CHIME syndrome:Autosomal Recessive$Zunich neuroectodermal syndrome:Autosomal Recessive","Zunich neuroectodermal syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9487[geneid]~-~605947~-","PIGL"]
["PIGM","Glycosylphosphatidylinositol deficiency","Glycosylphosphatidylinositol deficiency","Autosomal Recessive","Glycosylphosphatidylinositol deficiency:Autosomal Recessive","Glycosylphosphatidylinositol deficiency:Autosomal Recessive","HIGH","-~-~610273~-","PIGM"]
["PIGN","Multiple congenital anomalies & seizures","Multiple congenital anomalies-hypotonia-seizures syndrome 1","Autosomal Recessive","Multiple congenital anomalies-hypotonia-seizures syndrome 1:Autosomal Recessive","Multiple congenital anomalies-hypotonia-seizures syndrome 1:Autosomal Recessive","HIGH","-~-~606097~-","PIGN"]
["PIGO","Hyperphosphatasia mental retardation syndrome","Hyperphosphatasemia with mental retardation","Autosomal Recessive","Hyperphosphatasemia with mental retardation:Autosomal Recessive","Hyperphosphatasemia with mental retardation:Autosomal Recessive","HIGH","-~-~614730~-","PIGO"]
["PIGT","Intellectual disability syndrome","Intellectual Disability","Autosomal Recessive","Multiple congenital anomalies;Hypotonia;Seizures:Autosomal Recessive$Paroxysmal nocturnal hemoglobinuria:Autosomal Dominant","Multiple congenital anomalies;Hypotonia;Seizures:Autosomal Recessive$Paroxysmal nocturnal hemoglobinuria:Autosomal Dominant","HIGH","-~-~610272~-","PIGT"]
["PIGT","Paroxysmal nocturnal haemoglobinuria","Paroxysmal nocturnal hemoglobinuria","Autosomal Dominant","Multiple congenital anomalies;Hypotonia;Seizures:Autosomal Recessive$Paroxysmal nocturnal hemoglobinuria:Autosomal Dominant","Multiple congenital anomalies;Hypotonia;Seizures:Autosomal Recessive$Paroxysmal nocturnal hemoglobinuria:Autosomal Dominant","HIGH","-~-~610272~-","PIGT"]
["PIGV","Hyperphosphatasia mental retardation syndrome","Hyperphosphatasemia with mental retardation","Autosomal Recessive","Hyperphosphatasemia with mental retardation:Autosomal Recessive","Hyperphosphatasemia with mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55650[geneid]~-~610274~-","PIGV"]
["PIK3CA","Cowden / Cowden-like syndrome","Cowden syndrome","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","HIGH","-~-~171834~-","PIK3CA"]
["PIK3CA","Cowden syndrome","Cowden syndrome","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","HIGH","-~-~171834~-","PIK3CA"]
["PIK3CA","Megalencephaly-capillary malformation","Megalencephaly cutis marmorata telangiectatica congenita","Autosomal Dominant ","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","HIGH","-~-~171834~-","PIK3CA"]
["PIK3CA","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome","Autosomal Dominant ","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant$Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Malignant neoplasm of stomach:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Seborrheic keratosis:Autosomal Dominant$Megalencephaly cutis marmorata telangiectatica congenita:Autosomal Dominant$Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant$Epidermal nevus:Autosomal Dominant$Non-Small Cell Lung Carcinoma:Autosomal Dominant$Malignant neoplasm of ovary:Autosomal Dominant","HIGH","-~-~171834~-","PIK3CA"]
["PIK3CD","Immunodeficiency, primary B-cell","B-lymphocyte immunodeficiency","Risk","B-lymphocyte immunodeficiency:Autosomal Dominant","B-lymphocyte immunodeficiency:Autosomal Dominant","HIGH","-~-~602839~-","PIK3CD"]
["PIK3CG","Altered platelet volume","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~601232~-","PIK3CG"]
["PIK3CG","Chronic infection and pelvic pain","Pelvic Pain","Autosomal Dominant",null,null,"HIGH","-~-~601232~-","PIK3CG"]
["PIK3R1","B cell defects","Agammaglobulinemia","Autosomal Recessive","Agammaglobulinemia:Autosomal Recessive$SHORT syndrome:Autosomal Dominant","Agammaglobulinemia:Autosomal Recessive$SHORT syndrome:Autosomal Dominant","HIGH","-~-~171833~-","PIK3R1"]
["PIK3R1","Insulin resistance","Insulin resistance","Autosomal Dominant","Agammaglobulinemia:Autosomal Recessive$SHORT syndrome:Autosomal Dominant","Agammaglobulinemia:Autosomal Recessive$SHORT syndrome:Autosomal Dominant","HIGH","-~-~171833~-","PIK3R1"]
["PIK3R1","SHORT syndrome","SHORT syndrome","Autosomal Dominant","Agammaglobulinemia:Autosomal Recessive$SHORT syndrome:Autosomal Dominant","Agammaglobulinemia:Autosomal Recessive$SHORT syndrome:Autosomal Dominant","HIGH","-~-~171833~-","PIK3R1"]
["PIK3R2","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome","Autosomal Dominant","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome:Autosomal Dominant","HIGH","-~-~603157~-","PIK3R2"]
["PIK3R3","Hyperinsulism","Hyperinsulinism","Risk",null,null,"HIGH","-~-~606076~-","PIK3R3"]
["PIK3R5","Ataxia-ocular apraxia 2","Spinocerebellar ataxia, Autosomal Recessive 1","Autosomal Recessive","Ataxia-oculomotor apraxia 3:Autosomal Recessive","Ataxia-oculomotor apraxia 3:Autosomal Recessive","HIGH","-~-~611317~-","PIK3R5"]
["PIKFYVE","Fleck corneal dystrophy","Fleck corneal dystrophy","Autosomal Dominant","Fleck corneal dystrophy:Autosomal Dominant","Fleck corneal dystrophy:Autosomal Dominant","HIGH","-~-~609414~-","PIKFYVE"]
["PIN1","Alzheimer disease","Alzheimer's disease","Modifier","Alzheimer's disease:Modifier","Alzheimer's disease:Modifier","HIGH","-~-~601052~-","PIN1"]
["PIN1","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","Alzheimer's disease:Modifier","Alzheimer's disease:Modifier","HIGH","-~-~601052~-","PIN1"]
["PINK1","Dementia with Lewy bodies","Diffuse Lewy body disease","Risk","Parkinson Disease 6, Autosomal Recessive Early-Onset:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65018[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26472$http://www.ncbi.nlm.nih.gov/books/NBK1223~608309~-","PINK1"]
["PINK1","Parkinson disease","Parkinson Disease 6, Autosomal Recessive Early-Onset","Autosomal Recessive","Parkinson Disease 6, Autosomal Recessive Early-Onset:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65018[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26472$http://www.ncbi.nlm.nih.gov/books/NBK1223~608309~-","PINK1"]
["PINK1","Parkinson disease, Autosomal Recessive","Parkinson Disease 6, Autosomal Recessive Early-Onset","Autosomal Recessive","Parkinson Disease 6, Autosomal Recessive Early-Onset:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65018[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26472$http://www.ncbi.nlm.nih.gov/books/NBK1223~608309~-","PINK1"]
["PINK1","Parkinson disease, early-onset","Parkinson Disease 6, Autosomal Recessive Early-Onset","Autosomal Recessive","Parkinson Disease 6, Autosomal Recessive Early-Onset:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65018[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26472$http://www.ncbi.nlm.nih.gov/books/NBK1223~608309~-","PINK1"]
["PINK1","Parkinson disease, levodopa-responsive early-onset","Parkinson Disease 6, Autosomal Recessive Early-Onset","Autosomal Recessive","Parkinson Disease 6, Autosomal Recessive Early-Onset:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65018[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26472$http://www.ncbi.nlm.nih.gov/books/NBK1223~608309~-","PINK1"]
["PIP5K1C","Contracture syndrome type 3","Lethal Congenital Contractural Syndrome 3","Autosomal Recessive","Lethal congenital contractural syndrome 3:Autosomal Recessive","Lethal congenital contractural syndrome 3:Autosomal Recessive","HIGH","-~-~606102~-","PIP5K1C"]
["PIP5K3","Fleck corneal dystrophy","Fleck corneal dystrophy","Autosomal Dominant","Fleck corneal dystrophy:Autosomal Dominant","Fleck corneal dystrophy:Autosomal Dominant","HIGH","-~-~609414~-","PIKFYVE"]
["PIR","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603329~-","PIR"]
["PITPNM3","Cone dystrophy","Cone-Rod Dystrophy 5","Autosomal Dominant","Cone-Rod Dystrophy 5:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant","HIGH","-~-~608921~-","PITPNM3"]
["PITPNM3","Cone dystrophy, Autosomal Dominant","Cone-Rod Dystrophy 5","Autosomal Dominant","Cone-Rod Dystrophy 5:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant","HIGH","-~-~608921~-","PITPNM3"]
["PITX1","Clubfoot","Talipes equinovarus","Autosomal Dominant","Talipes equinovarus:Autosomal Dominant$Liebenberg syndrome:Autosomal Dominant$Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly:Autosomal Dominant","Talipes equinovarus:Autosomal Dominant$Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly:Autosomal Dominant","HIGH","-~-~602149~-","PITX1"]
["PITX1","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly","Autosomal Dominant","Talipes equinovarus:Autosomal Dominant$Liebenberg syndrome:Autosomal Dominant$Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly:Autosomal Dominant","Talipes equinovarus:Autosomal Dominant$Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly:Autosomal Dominant","HIGH","-~-~602149~-","PITX1"]
["PITX2","Anterior segment dysgenesis","Irido-corneal dysgenesis","Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Peters anomaly:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5308[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~601542~-","PITX2"]
["PITX2","Axenfeld-Rieger syndrome","Axenfeld-Rieger syndrome","Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Peters anomaly:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5308[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~601542~-","PITX2"]
["PITX2","Iridogoniodysgenesis syndrome","Iridogoniodysgenesis, dominant type","Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Peters anomaly:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5308[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~601542~-","PITX2"]
["PITX2","Iris hypoplasia","Hypoplasia of iris","Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Peters anomaly:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5308[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~601542~-","PITX2"]
["PITX2","Peter anomaly","Irido-corneo-trabecular dysgenesis","Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Peters anomaly:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5308[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~601542~-","PITX2"]
["PITX2","Rieger syndrome","Rieger syndrome","Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Peters anomaly:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5308[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~601542~-","PITX2"]
["PITX2","Ring dermoid of the cornea","Ring dermoid of cornea","Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Peters anomaly:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","Axenfeld-Rieger syndrome:Autosomal Dominant$Iridogoniodysgenesis, dominant type:Autosomal Dominant$Irido-corneo-trabecular dysgenesis:Autosomal Dominant$Ring dermoid of cornea:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5308[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~601542~-","PITX2"]
["PITX3","Anterior segment dysgenesis & microphthalmia","Irido-corneal dysgenesis;Microphthalmos","Autosomal Recessive","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~602669~-","PITX3"]
["PITX3","Anterior segment mesenchymal dysgenesis","Anterior segment mesenchymal dysgenesis","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~602669~-","PITX3"]
["PITX3","Cataract, congenital posterior polar","Congenital posterior polar cataract","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~602669~-","PITX3"]
["PITX3","Congenital cataract","Congenital posterior polar cataract","Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","Anterior segment mesenchymal dysgenesis:Autosomal Dominant$Cataract:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~602669~-","PITX3"]
["PITX3","Parkinson disease","NULL","Negated by PMID 20468068","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~602669~-","PITX3"]
["PIWIL1","Autism","Autism","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605571~22495311","PIWIL1"]
["PKCG","Spinocerebellar ataxia 14","Spinocerebellar ataxia 14","Autosomal Dominant","Spinocerebellar ataxia 14:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5582[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1399~176980~-","PRKCG"]
["PKD1","Phenotype modifier","Adult type polycystic kidney disease type 1","Autosomal Dominant","Adult type polycystic kidney disease type 1:Autosomal Dominant$Polycystic kidney disease, adult type:Autosomal Dominant","Polycystic kidney disease, adult type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5310[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1246~601313~-","PKD1"]
["PKD1","Polycystic kidney disease 1","Adult type polycystic kidney disease type 1","Autosomal Dominant","Adult type polycystic kidney disease type 1:Autosomal Dominant$Polycystic kidney disease, adult type:Autosomal Dominant","Polycystic kidney disease, adult type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5310[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1246~601313~-","PKD1"]
["PKD1","Polycystic kidney disease, Autosomal Dominant","Polycystic kidney disease, adult type","Autosomal Dominant","Adult type polycystic kidney disease type 1:Autosomal Dominant$Polycystic kidney disease, adult type:Autosomal Dominant","Polycystic kidney disease, adult type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5310[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1246~601313~-","PKD1"]
["PKD2","Polycystic kidney disease 2","Adult type polycystic kidney disease type 2","Autosomal Dominant","Adult type polycystic kidney disease type 2:Autosomal Dominant$Polycystic kidney disease, adult type:Autosomal Dominant","Polycystic kidney disease, adult type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5311[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1246~173910~-","PKD2"]
["PKD2","Polycystic kidney disease, Autosomal Dominant","Polycystic kidney disease, adult type","Autosomal Dominant","Adult type polycystic kidney disease type 2:Autosomal Dominant$Polycystic kidney disease, adult type:Autosomal Dominant","Polycystic kidney disease, adult type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5311[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1246~173910~-","PKD2"]
["PKD2","Polycystic kidney disease, neonatal-onset","Polycystic kidney disease, infantile type","Autosomal Dominant","Adult type polycystic kidney disease type 2:Autosomal Dominant$Polycystic kidney disease, adult type:Autosomal Dominant","Polycystic kidney disease, adult type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5311[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1246~173910~-","PKD2"]
["PKHD1","Polycystic kidney disease","Polycystic kidney disease, adult type","Autosomal Recessive","Polycystic kidney disease, infantile type:Autosomal Recessive","Polycystic kidney disease, infantile type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5314[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1326~606702~-","PKHD1"]
["PKHD1L1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607843~-","PKHD1L1"]
["PKLR","Elevated red cell ATP","Adenosine Triphosphate, Elevated, Of Erythrocytes","Autosomal Dominant","Adenosine Triphosphate, Elevated, Of Erythrocytes:Autosomal Dominant$Deficiency of pyruvate kinase:Autosomal Recessive","Adenosine Triphosphate, Elevated, Of Erythrocytes:Autosomal Dominant$Deficiency of pyruvate kinase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5313[geneid]~-~609712~-","PKLR"]
["PKLR","Haemolytic anaemia","Hemolytic anemia","Autosomal Recessive","Adenosine Triphosphate, Elevated, Of Erythrocytes:Autosomal Dominant$Deficiency of pyruvate kinase:Autosomal Recessive","Adenosine Triphosphate, Elevated, Of Erythrocytes:Autosomal Dominant$Deficiency of pyruvate kinase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5313[geneid]~-~609712~-","PKLR"]
["PKLR","Pyruvate kinase deficiency","Deficiency of pyruvate kinase","Autosomal Recessive","Adenosine Triphosphate, Elevated, Of Erythrocytes:Autosomal Dominant$Deficiency of pyruvate kinase:Autosomal Recessive","Adenosine Triphosphate, Elevated, Of Erythrocytes:Autosomal Dominant$Deficiency of pyruvate kinase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5313[geneid]~-~609712~-","PKLR"]
["PKM","Bloom syndrome","Bloom syndrome","Autosomal Dominant",null,null,"HIGH","-~-~179050~-","PKM"]
["PKM2","Bloom syndrome","Bloom syndrome","Autosomal Dominant",null,null,"HIGH","-~-~-~-","PKM2"]
["PKM2","Decreased protein stability","NULL","No disease associated PMID 19702579","NULL","NULL","HIGH","-~-~179050~-","PKM"]
["PKM2","Decreased protein stability","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~179050~-","PKM2"]
["PKNOX1","Congenital heart defects","Congenital heart disease","Risk",null,null,"HIGH","-~-~602100~-","PKNOX1"]
["PKP1","Ectodermal dysplasia/skin fragility syndrome","Ectodermal dysplasia;Ectodermal dysplasia/ skin fragility syndrome","Autosomal Recessive","Ectodermal dysplasia/ skin fragility syndrome:Autosomal Recessive","Ectodermal dysplasia/ skin fragility syndrome:Autosomal Recessive","HIGH","-~-~601975~-","PKP1"]
["PKP2","Arrhythmogenic right ventricular cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:Autosomal Dominant$Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5318[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~602861~-","PKP2"]
["PKP2","Arrhythmogenic right ventricular dysplasia","Arrhythmogenic right ventricular dysplasia","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:Autosomal Dominant$Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5318[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~602861~-","PKP2"]
["PKP2","Arrhythmogenic right ventricular dysplasia/cardiomyopathy","Arrhythmogenic right ventricular dysplasia","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:Autosomal Dominant$Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5318[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~602861~-","PKP2"]
["PKP2","Sudden unexpeted death with negative autopsy","Unexpected sudden death of adult","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:Autosomal Dominant$Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","Arrhythmogenic right ventricular cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5318[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~602861~-","PKP2"]
["PLA2G10","Reduced protein expression","Coronary arteriosclerosis","Risk",null,null,"HIGH","-~-~603603~-","PLA2G10"]
["PLA2G2A","Altered secretory phospholipase A2-IIA levels","Atherosclerosis","Risk","Colorectal Cancer:Risk","Colorectal Cancer:Risk","HIGH","-~-~172411~-","PLA2G2A"]
["PLA2G2A","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Colorectal Cancer:Risk","Colorectal Cancer:Risk","HIGH","-~-~172411~-","PLA2G2A"]
["PLA2G4A","Prostanoid biosynthesis deficiency","Deficiency of phospholipase A>2<","Autosomal Recessive","Deficiency of phospholipase A>2<:Autosomal Recessive","Deficiency of phospholipase A>2<:Autosomal Recessive","HIGH","-~-~600522~-","PLA2G4A"]
["PLA2G5","Benign fleck retina","Fleck Retina, Familial Benign","Autosomal Recessive","Fleck Retina, Familial Benign:Autosomal Recessive","Fleck Retina, Familial Benign:Autosomal Recessive","HIGH","-~-~601192~-","PLA2G5"]
["PLA2G6","Asthenozoospermia","Asthenozoospermia","Autosomal Dominant","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Dystonia-parkinsonism, adult-onset, levodopa-responsive","Dystonia-Parkinsonism, Adult-Onset","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Infantile neuroaxonal dystrophy","Infantile neuroaxonal dystrophy","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Infantile neuroaxonal dystrophy 1","Infantile neuroaxonal dystrophy","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Infantile neuroaxonal dystrophy with brain iron accumulation","Infantile neuroaxonal dystrophy","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Neuroaxonal dystrophy, infantile-onset","Infantile neuroaxonal dystrophy","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Neurodegeneration with brain iron accumulation","Nerve Degeneration;Infantile neuroaxonal dystrophy","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Parkinson disease","Parkinson's disease","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Parkinson disease, early onset","Parkinson's disease","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G6","Parkinsonism, L-DOPA-responsive with dementia","Dementia in Parkinson's disease","Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson disease 14:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","Infantile neuroaxonal dystrophy:Autosomal Recessive$Parkinson's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8398[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1675~603604~-","PLA2G6"]
["PLA2G7","PAF acetylhydrolase deficiency","Platelet-Activating Factor Acetylhydrolase Deficiency","Autosomal Recessive","Platelet-Activating Factor Acetylhydrolase Deficiency:Autosomal Recessive","Platelet-Activating Factor Acetylhydrolase Deficiency:Autosomal Recessive","HIGH","-~-~601690~-","PLA2G7"]
["PLAGL1","Ventricular septal defect, isolated","Ventricular septal defect","Risk","Transitory neonatal diabetes mellitus:Risk","Transitory neonatal diabetes mellitus:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1534~603044~-","PLAGL1"]
["PLAT","Autism spectrum disorder","Autistic Disorder","Risk","Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator:Autosomal Dominant$Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator:Autosomal Dominant","Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator:Autosomal Dominant","HIGH","-~-~173370~-","PLAT"]
["PLAU","Alzheimer disease, late onset, protection against","Alzheimer's disease","Decreased Risk","Platelet factor V deficiency (factor V Quebec):Autosomal Dominant$Alzheimer's disease:Risk","Platelet factor V deficiency (factor V Quebec):Autosomal Dominant$Alzheimer's disease:Risk","HIGH","-~-~191840~-","PLAU"]
["PLCB4","Auriculocondylar syndrome","Auriculo-condylar syndrome","Autosomal Dominant","Auriculo-condylar syndrome:Autosomal Dominant","Auriculo-condylar syndrome:Autosomal Dominant","HIGH","-~-~600810~-","PLCB4"]
["PLCD1","Alzheimer disease","Alzheimer's disease","Autosomal Dominant","Leukonychia totalis:Autosomal Dominant$Leukonychia totalis:Autosomal Recessive","Leukonychia totalis:Autosomal Dominant$Leukonychia totalis:Autosomal Recessive","HIGH","-~-~602142~-","PLCD1"]
["PLCD1","Leukonychia","Leukonychia totalis","Autosomal Dominant","Leukonychia totalis:Autosomal Dominant$Leukonychia totalis:Autosomal Recessive","Leukonychia totalis:Autosomal Dominant$Leukonychia totalis:Autosomal Recessive","HIGH","-~-~602142~-","PLCD1"]
["PLCD1","Leukonychia","Leukonychia totalis","Autosomal Recessive","Leukonychia totalis:Autosomal Dominant$Leukonychia totalis:Autosomal Recessive","Leukonychia totalis:Autosomal Dominant$Leukonychia totalis:Autosomal Recessive","HIGH","-~-~602142~-","PLCD1"]
["PLCD4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605939~-","PLCD4"]
["PLCE1","Diffuse mesangial sclerosis","Diffuse mesangial sclerosis","Autosomal Recessive","Nephrotic Syndrome, Type 3:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51196[geneid]~-~608414~-","PLCE1"]
["PLCE1","Glomerulosclerosis, focal segmental","Focal segmental glomerulosclerosis","Autosomal Recessive","Nephrotic Syndrome, Type 3:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51196[geneid]~-~608414~-","PLCE1"]
["PLCE1","Nephrotic syndrome","Nephrotic syndrome","Autosomal Recessive","Nephrotic Syndrome, Type 3:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51196[geneid]~-~608414~-","PLCE1"]
["PLCE1","Nephrotic syndrome 3, early onset","Nephrotic syndrome","Autosomal Recessive","Nephrotic Syndrome, Type 3:Autosomal Recessive$Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51196[geneid]~-~608414~-","PLCE1"]
["PLCG2","Autoinflammatory disease with immunodeficiency","Hereditary periodic fever;Immunodeficiency","Autosomal Dominant","Hereditary periodic fever, Immunodeficiency:Autosomal Dominant$Familial cold urticaria:Autosomal Dominant","Hereditary periodic fever, Immunodeficiency:Autosomal Dominant$Familial cold urticaria:Autosomal Dominant","HIGH","-~-~600220~-","PLCG2"]
["PLCZ1","Infertility, male","Male infertility","Autosomal Dominant",null,null,"HIGH","-~-~608075~-","PLCZ1"]
["PLD2","Inactivity variant","Hereditary nonpolyposis colon cancer","Autosomal Dominant",null,null,"HIGH","-~-~602384~-","PLD2"]
["PLDN","Hermansky-Pudlak syndrome 9","Hermansky-Pudlak syndrome","Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","Hermansky-Pudlak syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1287~604310~-","BLOC1S6"]
["PLEC1","Epidermolysis bullosa simplex","Epidermolysis bullosa simplex, Ogna type","Autosomal Dominant","Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex, Ogna type:Autosomal Recessive$Epidermolysis Bullosa Simplex With Pyloric Atresia:Autosomal Recessive$Epidermolysa bullosa simplex and limb girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular dystrophy, limb-girdle, type 2Q:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5339[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1157~601282~-","PLEC"]
["PLEC1","Epidermolysis bullosa with muscular dystrophy & myasthenic syndrome","Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Myasthenic syndrome","Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex, Ogna type:Autosomal Recessive$Epidermolysis Bullosa Simplex With Pyloric Atresia:Autosomal Recessive$Epidermolysa bullosa simplex and limb girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular dystrophy, limb-girdle, type 2Q:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5339[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1157~601282~-","PLEC"]
["PLEC1","Epidermolysis bullosa with muscular dystrophy and myasthenic syndrome","Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Myasthenic syndrome","Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex, Ogna type:Autosomal Recessive$Epidermolysis Bullosa Simplex With Pyloric Atresia:Autosomal Recessive$Epidermolysa bullosa simplex and limb girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular dystrophy, limb-girdle, type 2Q:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5339[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1157~601282~-","PLEC"]
["PLEC1","Epidermolysis bullosa with muscular dystrophy and pyloric atresia","Epidermolysis Bullosa Simplex With Pyloric Atresia;Muscular dystrophy","Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex, Ogna type:Autosomal Recessive$Epidermolysis Bullosa Simplex With Pyloric Atresia:Autosomal Recessive$Epidermolysa bullosa simplex and limb girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular dystrophy, limb-girdle, type 2Q:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5339[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1157~601282~-","PLEC"]
["PLEC1","Epidermolysis bullosa with pyloric atresia","Epidermolysis Bullosa Simplex With Pyloric Atresia","Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex, Ogna type:Autosomal Recessive$Epidermolysis Bullosa Simplex With Pyloric Atresia:Autosomal Recessive$Epidermolysa bullosa simplex and limb girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular dystrophy, limb-girdle, type 2Q:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5339[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1157~601282~-","PLEC"]
["PLEC1","Muscular dystrophy with epidermolysis bullosa","Epidermolysa bullosa simplex and limb girdle muscular dystrophy","Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Epidermolysis bullosa simplex, Ogna type:Autosomal Recessive$Epidermolysis Bullosa Simplex With Pyloric Atresia:Autosomal Recessive$Epidermolysa bullosa simplex and limb girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular dystrophy, limb-girdle, type 2Q:Autosomal Recessive","Epidermolysis bullosa simplex:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5339[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1157~601282~-","PLEC"]
["PLEKHG4","Cerebellar ataxia, Autosomal Dominant","Cerebellar ataxia","Autosomal Dominant",null,null,"HIGH","-~-~609526~-","PLEKHG4"]
["PLEKHG5","Charcot-Marie-Tooth disease, intermediate","Charcot-Marie-Tooth disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate:Autosomal Recessive$Distal spinal muscular atrophy:Autosomal Recessive$Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Distal spinal muscular atrophy:Autosomal Recessive","HIGH","-~-~611101~-","PLEKHG5"]
["PLEKHG5","Lower motor neuron disease, childhood onset","Charcot-Marie-Tooth Disease, Recessive Intermediate","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate:Autosomal Recessive$Distal spinal muscular atrophy:Autosomal Recessive$Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Distal spinal muscular atrophy:Autosomal Recessive","HIGH","-~-~611101~-","PLEKHG5"]
["PLEKHG5","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4;Distal spinal muscular atrophy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth Disease, Recessive Intermediate:Autosomal Recessive$Distal spinal muscular atrophy:Autosomal Recessive$Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Distal spinal muscular atrophy:Autosomal Recessive","HIGH","-~-~611101~-","PLEKHG5"]
["PLEKHM1","Osteopaenia with focal osteosclerosis","Osteopenia;Osteosclerosis","Autosomal Dominant","Osteopetrosis, Autosomal Recessive 6:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~611466~-","PLEKHM1"]
["PLEKHM1","Osteopetrosis","Osteopetrosis, Autosomal Recessive 6;Osteopetrosis","Autosomal Recessive","Osteopetrosis, Autosomal Recessive 6:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~611466~-","PLEKHM1"]
["PLG","Plasminogen deficiency","Dysplasminogenemia","Autosomal Dominant","Ligneous conjunctivitis:Autosomal Recessive$Dysplasminogenemia:Autosomal Dominant$Hypoplasminogenemia:Autosomal Recessive$Thrombophilia:Risk","Ligneous conjunctivitis:Autosomal Recessive$Dysplasminogenemia:Autosomal Dominant$Hypoplasminogenemia:Autosomal Recessive$Thrombophilia:Risk","HIGH","-~-~173350~-","PLG"]
["PLG","Plasminogen deficiency","Hypoplasminogenemia;Ligneous conjunctivitis","Autosomal Recessive","Ligneous conjunctivitis:Autosomal Recessive$Dysplasminogenemia:Autosomal Dominant$Hypoplasminogenemia:Autosomal Recessive$Thrombophilia:Risk","Ligneous conjunctivitis:Autosomal Recessive$Dysplasminogenemia:Autosomal Dominant$Hypoplasminogenemia:Autosomal Recessive$Thrombophilia:Risk","HIGH","-~-~173350~-","PLG"]
["PLG","Plasminogen deficiency, severe type I","Plasminogen Deficiency, Type I;Ligneous conjunctivitis","Autosomal Recessive","Ligneous conjunctivitis:Autosomal Recessive$Dysplasminogenemia:Autosomal Dominant$Hypoplasminogenemia:Autosomal Recessive$Thrombophilia:Risk","Ligneous conjunctivitis:Autosomal Recessive$Dysplasminogenemia:Autosomal Dominant$Hypoplasminogenemia:Autosomal Recessive$Thrombophilia:Risk","HIGH","-~-~173350~-","PLG"]
["PLIN1","Partial lipodystrophy, dyslipidemia & insulin-resistant diabetes","Familial partial lipodystrophy","Autosomal Dominant","Partial Lipodystrophy:Autosomal Dominant","Partial Lipodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5346[geneid]~-~170290~-","PLIN1"]
["PLN","Cardiomyopathy","Cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1P:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5350[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~172405~-","PLN"]
["PLN","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1p;Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1P:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5350[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~172405~-","PLN"]
["PLN","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1P:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5350[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~172405~-","PLN"]
["PLN","Cardiomyopathy, modifier of","Dilated cardiomyopathy","Modifier","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1P:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5350[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~172405~-","PLN"]
["PLOD1","Ehlers-Danlos syndrome VI","Ehlers-Danlos syndrome, hydroxylysine-deficient","Autosomal Recessive","Ehlers-Danlos syndrome type 6:Autosomal Recessive$Ehlers-Danlos syndrome, hydroxylysine-deficient:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1462~153454~-","PLOD1"]
["PLOD1","Ehlers-Danlos syndrome VIa, kyphoscoliotic type","Ehlers-Danlos syndrome","Autosomal Recessive","Ehlers-Danlos syndrome type 6:Autosomal Recessive$Ehlers-Danlos syndrome, hydroxylysine-deficient:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1462~153454~-","PLOD1"]
["PLOD1","Ehlers-Danlos syndrome VIa, kyphoscoliotic type","Ehlers-Danlos syndrome type 6","Autosomal Recessive","Ehlers-Danlos syndrome type 6:Autosomal Recessive$Ehlers-Danlos syndrome, hydroxylysine-deficient:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1462~153454~-","PLOD1"]
["PLOD2","Bruck syndrome","Bruck syndrome 2;Bruck syndrome","Autosomal Recessive","Bruck syndrome 2:Autosomal Recessive$Bruck syndrome:Autosomal Recessive","Bruck syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5352[geneid]~-~601865~-","PLOD2"]
["PLOD3","Autism","Autistic Disorder","Risk","Disorder of connective tissue:Autosomal Recessive$Bone Fragility with Contractures, Arterial Rupture, and Deafness:Autosomal Recessive","Disorder of connective tissue:Autosomal Recessive","HIGH","-~-~603066~-","PLOD3"]
["PLOD3","Connective tissue disorder","Bone Fragility with Contractures, Arterial Rupture, and Deafness","Autosomal Recessive","Disorder of connective tissue:Autosomal Recessive$Bone Fragility with Contractures, Arterial Rupture, and Deafness:Autosomal Recessive","Disorder of connective tissue:Autosomal Recessive","HIGH","-~-~603066~-","PLOD3"]
["PLP1","Pelizaeus-Merzbacher disease","Pelizaeus-Merzbacher disease","X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia 2, X-linked:X-linked Recessive$Spastic paraplegia:X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5354[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1182~300401~-","PLP1"]
["PLP1","Pelizaeus-Merzbacher disease without peripheral neuropathy","Pelizaeus-Merzbacher disease","X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia 2, X-linked:X-linked Recessive$Spastic paraplegia:X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5354[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1182~300401~-","PLP1"]
["PLP1","Spastic paraplegia","Spastic paraplegia 2, X-linked;Spastic paraplegia","X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia 2, X-linked:X-linked Recessive$Spastic paraplegia:X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5354[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1182~300401~-","PLP1"]
["PLP1","Spastic paraplegia 2","Spastic paraplegia 2, X-linked;Spastic paraplegia","X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia 2, X-linked:X-linked Recessive$Spastic paraplegia:X-linked Recessive","Pelizaeus-Merzbacher disease:X-linked Recessive$Spastic paraplegia:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5354[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1182~300401~-","PLP1"]
["PLP2","Mental retardation, X-linked","X-linked mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","-~-~300112~-","PLP2"]
["PLTP","Ataxia with vitamin E deficiency","Ataxia","Autosomal Dominant","High density lipoprotein cholesterol level:Modifier","High density lipoprotein cholesterol level:Modifier","HIGH","-~-~172425~-","PLTP"]
["PLTP","High density lipoprotein cholesterol level","High density lipoprotein cholesterol level","Modifier","High density lipoprotein cholesterol level:Modifier","High density lipoprotein cholesterol level:Modifier","HIGH","-~-~172425~-","PLTP"]
["PLXNB1","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~-~-","KIAA0407"]
["PLXNB1","Malignant tumor of prostate","Malignant tumor of prostate","Modifier",null,null,"HIGH","-~-~-~-","KIAA0407"]
["PMAIP1","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604959~-","PMAIP1"]
["PML","Breast cancer","NULL","Not conclusive PMID 19728758","NULL","NULL","HIGH","-~-~102578~-","PML"]
["PML","Colon cancer","NULL","Not conclusive PMID 19728759","NULL","NULL","HIGH","-~-~102578~-","PML"]
["PMM2","Congenital disorder of glycosylation 1","Congenital disorder of glycosylation type Ia","Autosomal Recessive","Congenital disorder of glycosylation, type Ia:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5373[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332$http://www.ncbi.nlm.nih.gov/books/NBK1110~601785~-","PMM2"]
["PMM2","Congenital disorder of glycosylation 1a","Congenital disorder of glycosylation type Ia","Autosomal Recessive","Congenital disorder of glycosylation, type Ia:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5373[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332$http://www.ncbi.nlm.nih.gov/books/NBK1110~601785~-","PMM2"]
["PMM2","Failure to thrive, hearing loss, hepatomegaly & pericardial effusion","Congenital disorder of glycosylation type Ia","Autosomal Recessive","Congenital disorder of glycosylation, type Ia:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5373[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332$http://www.ncbi.nlm.nih.gov/books/NBK1110~601785~-","PMM2"]
["PMP22","Axonal neuropathy","Axonal neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease, type IA","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Charcot-Marie-Tooth disease 1","Charcot-Marie-Tooth disease, type I","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Charcot-Marie-Tooth disease 1a","Charcot-Marie-Tooth disease, type IA","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Charcot-Marie-Tooth disease 1e","Charcot-Marie-Tooth disease, Type 1E","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Charcot-Marie-Tooth disease with deafness","Charcot-Marie-Tooth disease and deafness","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Dejerine-Sottas syndrome","Dejerine-Sottas disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Dejerine-Sottas syndrome","Dejerine-Sottas disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Neuropathy, liability to pressure palsies","Hereditary liability to pressure palsies","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMP22","Roussy-Levy syndrome","Roussy-Levy syndrome","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1A:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 1E :Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Dominant$Dejerine-Sottas disease:Autosomal Recessive$Inflammatory neuropathy:Autosomal Dominant$Hereditary liability to pressure palsies:Autosomal Dominant$Roussy-Levy syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5376[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1392$http://www.ncbi.nlm.nih.gov/books/NBK1205~601097~-","PMP22"]
["PMS1","Colorectal cancer, non-polyposis","Hereditary nonpolyposis colon cancer","Risk",null,null,"HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1211~600258~-","PMS1"]
["PMS2","Childhood cancer syndrome","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PMS2","Colorectal cancer","Colorectal Cancer, Hereditary Nonpolyposis, Type 4","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PMS2","Colorectal cancer, non-polyposis","Colorectal Cancer, Hereditary Nonpolyposis, Type 4","Autosomal Dominant","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PMS2","Constitutional mismatch repair deficiency syndrome","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PMS2","Defective protein-protein interactions with MLH1","Hereditary nonpolyposis colon cancer","Risk","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PMS2","MMR deficiency","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PMS2","Neuroectodermal tumours and cafe-au-lait spots","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PMS2","Turcot syndrome","Turcot syndrome","Autosomal Recessive","Colorectal Cancer, Hereditary Nonpolyposis, Type 4:Autosomal Dominant$Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Turcot syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5395[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1211~600259~-","PMS2"]
["PNKD","Paroxysmal nonkinesiogenic dyskinesia","Paroxysmal choreoathetosis","Autosomal Dominant","Paroxysmal choreoathetosis:Autosomal Dominant","Paroxysmal choreoathetosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25953[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1221~609023~-","PNKD"]
["PNKP","Epileptic encephalopathy","Early myoclonic encephalopathy","Autosomal Recessive","Epileptic encephalopathy, early infantile, 10:Autosomal Recessive$Early myoclonic encephalopathy:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11284[geneid]~-~605610~-","PNKP"]
["PNKP","Microcephaly, seizures & developmental delay","Epileptic encephalopathy, early infantile, 10","Autosomal Recessive","Epileptic encephalopathy, early infantile, 10:Autosomal Recessive$Early myoclonic encephalopathy:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11284[geneid]~-~605610~-","PNKP"]
["PNPLA1","Autism spectrum disorder","Autistic Disorder","Risk","Ichthyosis, congenital, Autosomal Recessive 10:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~612121~-","PNPLA1"]
["PNPLA1","Ichthyosis, Autosomal Recessive congenital","Autosomal Recessive ichthyosis","Autosomal Recessive","Ichthyosis, congenital, Autosomal Recessive 10:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~612121~-","PNPLA1"]
["PNPLA2","Distal myopathy & lipodystrophy","Distal muscular dystrophy;Lipodystrophy","Autosomal Recessive","Neutral Lipid Storage Disease with Myopathy:Autosomal Recessive","Neutral Lipid Storage Disease with Myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57104[geneid]~-~609059~-","PNPLA2"]
["PNPLA2","Neutral lipid storage disease with myopathy","Neutral Lipid Storage Disease with Myopathy","Autosomal Recessive","Neutral Lipid Storage Disease with Myopathy:Autosomal Recessive","Neutral Lipid Storage Disease with Myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57104[geneid]~-~609059~-","PNPLA2"]
["PNPLA2","Triglyceride storage disease","Neutral Lipid Storage Disease with Myopathy","Autosomal Recessive","Neutral Lipid Storage Disease with Myopathy:Autosomal Recessive","Neutral Lipid Storage Disease with Myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57104[geneid]~-~609059~-","PNPLA2"]
["PNPLA6","Motor neuron disease","Spastic Paraplegia 39, Autosomal Recessive","Autosomal Recessive","Spastic Paraplegia 39, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive ","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10908[geneid]~-~603197~-","PNPLA6"]
["PNPO","Epileptic encephalopathy, early myoclonic","Early myoclonic encephalopathy","Risk","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:Autosomal Recessive","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55163[geneid]~-~603287~-","PNPO"]
["PNPO","Epileptic encephalopathy, neonatal","Neonatal epileptic encephalopathy","Autosomal Recessive","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:Autosomal Recessive","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55163[geneid]~-~603287~-","PNPO"]
["PNPO","PNPO deficiency","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency","Autosomal Recessive","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:Autosomal Recessive","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55163[geneid]~-~603287~-","PNPO"]
["PNPT1","Hearing loss","Hearing loss","Autosomal Recessive","Combined oxidative phosphorylation deficiency 13:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Deafness:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=87178[geneid]~-~610316~-","PNPT1"]
["PNPT1","Respiratory chain deficiency","Deficiency in enzyme complexes of mitochondrial respiratory chain","Autosomal Recessive","Combined oxidative phosphorylation deficiency 13:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Deafness:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=87178[geneid]~-~610316~-","PNPT1"]
["POFUT1","Dowling-Degos disease, generalised","Reticulate acropigmentation of Kitamura","Autosomal Dominant","Reticulate acropigmentation of Kitamura:Autosomal Dominant","Reticulate acropigmentation of Kitamura:Autosomal Dominant","HIGH","-~-~607491~-","POFUT1"]
["POGZ","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~614787~-","POGZ"]
["POLD1","Altered level of single strand breaks","Mandibular hypoplasia;Deafness;Lipodystrophy","Autosomal Dominant","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:Autosomal Dominant","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:Autosomal Dominant","HIGH","-~-~174761~-","POLD1"]
["POLD1","Colorectal adenoma/carcinoma","Colorectal Cancer","Risk","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:Autosomal Dominant","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:Autosomal Dominant","HIGH","-~-~174761~-","POLD1"]
["POLD1","Mandibular hypoplasia, deafness and progeroid features","Mandibular hypoplasia;Deafness;Lipodystrophy","Autosomal Dominant","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:Autosomal Dominant","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:Autosomal Dominant","HIGH","-~-~174761~-","POLD1"]
["POLE","Colorectal adenoma/carcinoma","Colorectal Cancer","Risk","Facial dysmorphism, immunodeficiency, livedo, and short stature:Autosomal Recessive$Colorectal Cancer:Risk","Facial dysmorphism, immunodeficiency, livedo, and short stature:Autosomal Recessive$Colorectal Cancer:Risk","HIGH","-~-~174762~-","POLE"]
["POLE","Colorectal cancer","Colorectal Cancer","Risk","Facial dysmorphism, immunodeficiency, livedo, and short stature:Autosomal Recessive$Colorectal Cancer:Risk","Facial dysmorphism, immunodeficiency, livedo, and short stature:Autosomal Recessive$Colorectal Cancer:Risk","HIGH","-~-~174762~-","POLE"]
["POLE","Facial dysmorphism, immunodeficiency, livedo & short stature","Facial dysmorphism, immunodeficiency, livedo, and short stature ","Autosomal Recessive","Facial dysmorphism, immunodeficiency, livedo, and short stature:Autosomal Recessive$Colorectal Cancer:Risk","Facial dysmorphism, immunodeficiency, livedo, and short stature:Autosomal Recessive$Colorectal Cancer:Risk","HIGH","-~-~174762~-","POLE"]
["POLG","Alpers syndrome","Progressive sclerosing poliodystrophy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Alpers syndrome & seizures","Progressive sclerosing poliodystrophy;Seizures","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Alpers-Huttenlocher syndrome","Progressive sclerosing poliodystrophy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Alpers-like hepatocerebral syndrome","Hepatic encephalopathy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Alpers-like syndrome","Encephalopathy;Refractory epilepsy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Ataxia, epilepsy & cataract","Spinocerebellar Ataxia with Epilepsy;Cataract","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Ataxic neuropathy","Nutritional ataxic neuropathy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Depression, ataxia and cardiomyopathy","Depressive disorder;Ataxia;Cardiomyopathy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Distal myopathy with cachexia","Distal muscular dystrophy;Cachexia","Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Encephalopathy","Encephalopathy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Epilepsy and myoclonic jerks","Epilepsy;Myoclonus","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Fatigue, muscle complaints & dysarthria","Fatigue;Dysarthria","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Intractable epilepsy, childhood-onset","Refractory epilepsy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Isolated distal myopathy of upper limbs","Distal muscular dystrophy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Lactic acidosis","Lactic acidosis","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Mitochondrial DNA depletion syndrome","Mitochondrial neurogastrointestinal encephalopathy syndrome","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Mitochondrial DNA depletion syndrome, hepatic","Mitochondrial neurogastrointestinal encephalopathy syndrome","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Mitochondrial DNA depletion syndrome, hepatocerebral","Mitochondrial neurogastrointestinal encephalopathy syndrome","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Mitochondrial DNA depletion syndrome, myopathic","Mitochondrial neurogastrointestinal encephalopathy syndrome","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Mitochondrial spinocerebellar ataxia and epilepsy","Spinocerebellar Ataxia with Epilepsy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Multiple sclerosis-like features","Progressive external ophthalmoplegia","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Myocerebrohepatopathy spectrum disorders","Depletion of mitochondrial DNA","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Myoclonic epilepsy of infancy","Severe myoclonic epilepsy in infancy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Myopathy, polyneuropathy & ataxia","Myopathy, polyneuropathy & ataxia","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Neurodegenerative disease","Depletion of mitochondrial DNA","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Optic atrophy","Dyschromatopsia;Optic atrophy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Oxidative phophorylation deficiency","Progressive sclerosing poliodystrophy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Parkinson disease, early-onset","Parkinson's disease","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Peripheral neuropathy, sensorineural hearing loss, tremor & intracranial calcifications","Peripheral nerve disease;Sensorineural hearing loss;Tremor;Cerebral calcification","Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","POLG deficiency","Mitochondrial disease","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Progressive external ophthalmoplegia","Progressive external ophthalmoplegia","Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Progressive external ophthalmoplegia","Progressive external ophthalmoplegia","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Progressive external ophthalmoplegia & ataxia","Progressive external ophthalmoplegia;Ataxia","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Progressive external ophthalmoplegia & mental retardation","Progressive external ophthalmoplegia;Mental retardation","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Progressive external ophthalmoplegia and parkinsonism","Progressive external ophthalmoplegia;Parkinsonism","Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Progressive external ophthalmoplegia with encephalopathy","Progressive external ophthalmoplegia;Encephalopathy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","SANDO","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Sensory neuropathy","Sensory neuropathy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Sensory-ataxic neuropathy, ophthalmoplegia, dysarthria and gastroparesis","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG","Status epilepticus & epilepsy","Status epilepticus;Epilepsy","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive sclerosing poliodystrophy:Autosomal Recessive$Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:Autosomal Recessive$Spinocerebellar Ataxia with Epilepsy:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26471~174763~-","POLG"]
["POLG2","Mitochondrial disease","Mitochondrial disease","Autosomal Dominant","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4:Autosomal Dominant$Mitochondrial disease:Autosomal Dominant","Mitochondrial disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11232[geneid]~-~604983~-","POLG2"]
["POLG2","Progressive external ophthalmoplegia","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4","Autosomal Dominant","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4:Autosomal Dominant$Mitochondrial disease:Autosomal Dominant","Mitochondrial disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11232[geneid]~-~604983~-","POLG2"]
["POLH","Melanoma, predisposition to","Malignant melanoma","Risk","Xeroderma pigmentosum, variant form:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~603968~-","POLH"]
["POLH","Xeroderma pigmentosum","Xeroderma pigmentosum","Autosomal Recessive","Xeroderma pigmentosum, variant form:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~603968~-","POLH"]
["POLH","Xeroderma pigmentosum, variant","Xeroderma pigmentosum, variant form","Autosomal Recessive","Xeroderma pigmentosum, variant form:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~603968~-","POLH"]
["POLL","Increased chromosomal instability","NULL","No disease association PMID 19806195","NULL","NULL","HIGH","-~-~606343~-","POLL"]
["POLL","Increased chromosomal instability","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~606343~-","POLL"]
["POLR1C","Treacher-Collins syndrome","Treacher Collins syndrome","Autosomal Recessive","Mandibulofacial dysostosis, Treacher Collins type, Autosomal Recessive:Autosomal Recessive$Treacher Collins syndrome:Autosomal Recessive","Treacher Collins syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9533[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1532~610060~-","POLR1C"]
["POLR1D","Treacher-Collins syndrome","Treacher Collins syndrome","Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51082[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1532~613715~-","POLR1D"]
["POLR2A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~180660~-","POLR2A"]
["POLR3A","Hypomyelinating leukodystrophy","Leukodystrophy, hypomyelinating","Autosomal Recessive","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism:Autosomal Recessive$Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11128[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614258~-","POLR3A"]
["POLR3A","Hypomyelination","Hypomyelination","Autosomal Recessive","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism:Autosomal Recessive$Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11128[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614258~-","POLR3A"]
["POLR3A","Hypomyelination, cerebellar atrophy & corpus callosum hypoplasia","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism","Autosomal Recessive","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism:Autosomal Recessive$Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11128[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614258~-","POLR3A"]
["POLR3A","Hypomyelination, hypodontia & hypogonadotropic hypogonadism","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism","Autosomal Recessive","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism:Autosomal Recessive$Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11128[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614258~-","POLR3A"]
["POLR3A","Hypomyelination, hypodontia & hypogonadotropic hypogonadism with late-onset growth hormone deficiency","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism","Autosomal Recessive","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism:Autosomal Recessive$Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11128[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614258~-","POLR3A"]
["POLR3A","Leukodystrophy with oligodontia","Leukodystrophy;Partial congenital absence of teeth","Autosomal Recessive","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism:Autosomal Recessive$Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11128[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614258~-","POLR3A"]
["POLR3A","Tremor-ataxia with central hypomyelinating leukodystrophy","Early onset cerebellar ataxia with essential tremor;Leukodystrophy, hypomyelinating","Autosomal Recessive","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism:Autosomal Recessive$Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11128[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614258~-","POLR3A"]
["POLR3B","Hypomyelinating leukodystrophy","Leukodystrophy, hypomyelinating","Autosomal Recessive","Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55703[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614366~-","POLR3B"]
["POLR3B","Hypomyelination, cerebellar atrophy & corpus callosum hypoplasia","Hypomyelination;Congenital cerebellar cortical atrophy;Hypoplasia of corpus callosum","Autosomal Recessive","Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55703[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614366~-","POLR3B"]
["POLR3B","Intellectual disability","Intellectual Disability","Risk","Leukodystrophy:Autosomal Recessive","Leukodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55703[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK99167~614366~-","POLR3B"]
["POLR3K","Thalassaemia alpha","NULL","No entry in HGMD for this gene","NULL","NULL","HIGH","-~-~606007~-","POLR3K"]
["POLR3K","Thalassaemia alpha","NULL","No record in HGMD for this gene","NULL","NULL","HIGH","-~-~606007~-","POLR3K"]
["POMC","Adrenal insufficiency & early-onset obesity","Proopiomelanocortin Deficiency","Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMC","Anorexia nervosa","NULL","No significant disease association PMID 9768693","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMC","Decreased serum leptin levels in lean individuals","NULL","No significant disease association PMID 14513068","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMC","Glucocorticoid deficiency","Glucocorticoid deficiency","Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMC","Obesity","Obesity","Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMC","Obesity & diabetes type 2, early-onset","Obesity;Diabetes mellitus type 2","Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMC","Obesity, adrenal insufficiency and absence of red hair phenotype","Proopiomelanocortin Deficiency","Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMC","Obesity, adrenal insufficiency and red hair","Proopiomelanocortin Deficiency","Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","Proopiomelanocortin Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5443[geneid]~-~176830~-","POMC"]
["POMGNT1","Lissencephaly, type II","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606822~-","POMGNT1"]
["POMGNT1","Muscle-eye-brain disease","Muscle eye brain disease","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606822~-","POMGNT1"]
["POMGNT1","Muscle-eye-brain syndrome/Fukuyama CMD","Muscle eye brain disease;Fukuyama congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606822~-","POMGNT1"]
["POMGNT1","Muscular dystrophy","Muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606822~-","POMGNT1"]
["POMGNT1","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606822~-","POMGNT1"]
["POMGNT1","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55624[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~606822~-","POMGNT1"]
["POMT1","Cobblestone lissencephaly","Type 2 lissencephaly","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT1","Lissencephaly, type II","Type 2 lissencephaly","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT1","Motor disability, microcephaly, mental retardation","Gross motor disability;Microcephalus;Mental retardation","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT1","Muscular dystrophy, congenital","Congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT1","Muscular dystrophy, congenital/mental retardation","Congenital muscular dystrophy;Mental retardation","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT1","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT1","Muscular dystrophy, limb girdle with mental retardation","Limb-girdle muscular dystrophy;Mental retardation","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT1","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10585[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607423~-","POMT1"]
["POMT2","Cobblestone lissencephaly","Type 2 lissencephaly","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["POMT2","Lissencephaly, type II","Type 2 lissencephaly","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["POMT2","Muscle-eye-brain like disease","Muscle eye brain disease","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["POMT2","Muscle-eye-brain syndrome/Fukuyama CMD","Muscle eye brain disease;Fukuyama congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["POMT2","Muscular dystrophy, congenital","Congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["POMT2","Muscular dystrophy, congenital with mental retardation","Congenital muscular dystrophy;Mental retardation","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["POMT2","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["POMT2","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Walker-Warburg congenital muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Congenital, plus Mental Retardation:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291~607439~-","POMT2"]
["PON1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~168820~-","PON1"]
["PON1","Ischaemic stroke, reduced risk","Ischemic stroke","Decreased Risk","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~168820~-","PON1"]
["PON1","Macular degeneration, age related","Age-related macular degeneration","Autosomal Dominant","Age-related macular degeneration:Autosomal Dominant","Age-related macular degeneration:Autosomal Dominant","HIGH","-~-~168820~-","PON1"]
["PON2","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive","HIGH","-~-~602447~-","PON2"]
["PON3","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~602720~-","PON3"]
["POP1","Anauxetic dysplasia","Anauxetic dysplasia","Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive","HIGH","-~-~604577~-","BVES"]
["POR","Adrenal hyperplasia","Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency","Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5447[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1419~124015~-","POR"]
["POR","Altered function","Drug Response","Pharmacogenetic","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5447[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1419~124015~-","POR"]
["POR","Antley-Bixler syndrome","Antley-Bixler syndrome","Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5447[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1419~124015~-","POR"]
["POR","Antley-Bixler syndrome / disorder of sex development","Antley-Bixler syndrome;Disorders of Sex Development","Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5447[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1419~124015~-","POR"]
["POR","Disordered steroidogenesis","Antley-Bixler syndrome","Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5447[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1419~124015~-","POR"]
["POR","POR deficiency","POR Deficiency","Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5447[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1419~124015~-","POR"]
["POR","Reduced transcription","Drug Response","Pharmacogenetic","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","Antley-Bixler syndrome:Autosomal Recessive$Antley Bixler Syndrome with Disordered Steroidogenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5447[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1419~124015~-","POR"]
["PORCN","Focal dermal hypoplasia","Focal dermal hypoplasia","X-linked Dominant","Focal dermal hypoplasia:X-linked dominant","Focal dermal hypoplasia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64840[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1543~300651~-","PORCN"]
["PORCN","Focal dermal hypoplasia with mammary hypoplasia & cleft hand","Focal dermal hypoplasia;Congenital hypoplasia of breast;Cleft hand","X-linked Dominant","Focal dermal hypoplasia:X-linked dominant","Focal dermal hypoplasia:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64840[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1543~300651~-","PORCN"]
["POU1F1","Pituitary hormone deficiency","Pituitary Hormone Deficiency, Combined, 1","Autosomal Recessive","Pituitary Hormone Deficiency, Combined, 1:Autosomal Recessive$Pituitary hormone deficiency:Autosomal Recessive","Pituitary Hormone Deficiency, Combined, 1:Autosomal Recessive$Pituitary hormone deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5449[geneid]~-~173110~-","POU1F1"]
["POU3F4","Hearing loss, X-linked nonsyndromic","Hearing loss","X-linked Recessive","Deafness, X-linked 2:X-linked Recessive$Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5456[geneid]~-~300039~-","POU3F4"]
["POU3F4","Mixed hearing loss","Hearing loss","X-linked Recessive","Deafness, X-linked 2:X-linked Recessive$Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5456[geneid]~-~300039~-","POU3F4"]
["POU3F4","Sensorineural hearing loss","Sensorineural hearing loss","X-linked Recessive","Deafness, X-linked 2:X-linked Recessive$Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5456[geneid]~-~300039~-","POU3F4"]
["POU3F4","X-linked deafness","Deafness","X-linked Recessive","Deafness, X-linked 2:X-linked Recessive$Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5456[geneid]~-~300039~-","POU3F4"]
["POU3F4","X-linked mixed deafness","Deafness","X-linked Recessive","Deafness, X-linked 2:X-linked Recessive$Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","Progressive hearing loss stapes fixation:X-linked Recessive$Deafness:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5456[geneid]~-~300039~-","POU3F4"]
["POU4F3","Deafness, non-syndromic","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 15:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5459[geneid]~-~602460~-","POU4F3"]
["POU4F3","Deafness, non-syndromic, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 15:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5459[geneid]~-~602460~-","POU4F3"]
["POU4F3","Hearing loss","Hearing loss","Autosomal Dominant","Deafness, Autosomal Dominant 15:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5459[geneid]~-~602460~-","POU4F3"]
["POU5F1","Altered translation","NULL","No disease association PMID 1408763","NULL","NULL","HIGH","-~-~164177~-","POU5F1"]
["POU5F1","Altered translation","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~164177~-","POU5F1"]
["POU5F1","Premature ovarian failure","Premature ovarian failure","Autosomal Dominant",null,null,"HIGH","-~-~164177~-","POU5F1"]
["POU6F2","Wilms tumour","Nephroblastoma","Autosomal Dominant","Nephroblastoma:Risk","Nephroblastoma:Risk","HIGH","-~-~609062~-","POU6F2"]
["PPARA","Diabetes","Familial combined hyperlipidemia","Modifier","Combined hyperlipidemia:Risk","Combined hyperlipidemia:Risk","HIGH","-~-~170998~-","PPARA"]
["PPARG","Carotid Intimal Medial Thickness 1","Atherosclerosis","Decreased Risk","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Lipodystrophy, familial partial, type 3:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5468[geneid]~-~601487~-","PPARG"]
["PPARG","Dyslipidaemia and colorectal cancer","Dyslipidemia;Colorectal Cancer","Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Lipodystrophy, familial partial, type 3:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5468[geneid]~-~601487~-","PPARG"]
["PPARG","Insulin resistance","Insulin resistance","Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Lipodystrophy, familial partial, type 3:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5468[geneid]~-~601487~-","PPARG"]
["PPARG","Insulin resistance, diabetes and hypertension","Insulin resistance;Diabetes mellitus;Essential hypertension","Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Lipodystrophy, familial partial, type 3:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5468[geneid]~-~601487~-","PPARG"]
["PPARG","Obesity","Obesity","Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Lipodystrophy, familial partial, type 3:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5468[geneid]~-~601487~-","PPARG"]
["PPARG","Partial lipodystrophy","Familial Partial Lipodystrophy, Type 3;Familial partial lipodystrophy","Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Lipodystrophy, familial partial, type 3:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","Atherosclerosis:Autosomal Dominant$Insulin resistance:Autosomal Dominant$Obesity:Autosomal Dominant$Partial Lipodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5468[geneid]~-~601487~-","PPARG"]
["PPIB","Osteogenesis imperfecta","Osteogenesis Imperfecta, Type IX;Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis Imperfecta, Type IX:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5479[geneid]~-~123841~-","PPIB"]
["PPIB","Osteogenesis imperfecta II","Osteogenesis imperfecta type II","Autosomal Recessive","Osteogenesis Imperfecta, Type IX:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5479[geneid]~-~123841~-","PPIB"]
["PPIB","Osteogenesis imperfecta III/IV","Osteogenesis imperfecta type III","Autosomal Recessive","Osteogenesis Imperfecta, Type IX:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5479[geneid]~-~123841~-","PPIB"]
["PPIB","Osteogenesis imperfecta III/IV","Osteogenesis imperfecta type IV","Autosomal Recessive","Osteogenesis Imperfecta, Type IX:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5479[geneid]~-~123841~-","PPIB"]
["PPIB","Osteogenesis imperfecta, recessive","Osteogenesis Imperfecta, Type IX;Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis Imperfecta, Type IX:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5479[geneid]~-~123841~-","PPIB"]
["PPM1D","Autism","Autistic Disorder","Risk","Malignant tumor of breast:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","HIGH","-~-~605100~-","PPM1D"]
["PPM1D","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","HIGH","-~-~605100~-","PPM1D"]
["PPM1D","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","HIGH","-~-~605100~-","PPM1D"]
["PPM1D","Breast/ovarian/colorectal cancer","Malignant tumor of breast;Malignant tumor of ovary;Colorectal Cancer","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","HIGH","-~-~605100~-","PPM1D"]
["PPM1D","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","HIGH","-~-~605100~-","PPM1D"]
["PPM1D","Ovarian cancer","Malignant tumor of ovary","Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","Malignant tumor of breast:Autosomal Dominant","HIGH","-~-~605100~-","PPM1D"]
["PPM1K","Maple syrup urine disease","Maple syrup urine disease","Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","Maple syrup urine disease:Autosomal Recessive","HIGH","-~-~611065~-","PPM1K"]
["PPOX","Porphyria, variegate","Variegate porphyria","Autosomal Dominant","Variegate porphyria:Autosomal Dominant","Variegate porphyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3060[geneid]~-~602358~-","HCRT"]
["PPP1R15B","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613257~-","PPP1R15B"]
["PPP1R1A","Attenuated cardiomyocyte response to stimulation","Heart failure","Risk",null,null,"HIGH","-~-~613246~-","PPP1R1A"]
["PPP1R3A","Insulin resistance","Insulin resistance","Autosomal Dominant","Insulin resistance:Autosomal Dominant","Insulin resistance:Autosomal Dominant","HIGH","-~-~600917~-","PPP1R3A"]
["PPP1R3C","Myoclonic epilepsy of Lafora","Lafora disease","Autosomal Dominant",null,null,"HIGH","-~-~602999~-","PPP1R3C"]
["PPP1R3C","Myoclonic epilepsy of Lafora, modifier of","Lafora Disease","Modifier",null,null,"HIGH","-~-~602999~-","PPP1R3C"]
["PPP1R3C","Reduced expression","Lafora disease","Autosomal Dominant",null,null,"HIGH","-~-~602999~-","PPP1R3C"]
["PPP2R1B","Autism","Autistic Disorder","Risk","Malignant tumor of lung:Autosomal Recessive","Malignant tumor of lung:Autosomal Recessive","HIGH","-~-~603113~-","PPP2R1B"]
["PPP2R5D","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~601646~-","PPP2R5D"]
["PPT1","Neuronal ceroid lipofuscinosis, adult","Adult neuronal ceroid lipofuscinosis","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~600722~-","PPT1"]
["PPT1","Neuronal ceroid lipofuscinosis, infantile","Infantile neuronal ceroid lipofuscinosis","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~600722~-","PPT1"]
["PPT1","Neuronal ceroid lipofuscinosis, juvenile","Juvenile neuronal ceroid lipofuscinosis","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~600722~-","PPT1"]
["PPT1","Neuronal ceroid lipofuscinosis, late infantile","Late-infantile neuronal ceroid lipofuscinosis","Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5538[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~600722~-","PPT1"]
["PQBP1","Golabi-Ito-Hall syndrome","Renpenning syndrome 1","X-linked Recessive","Renpenning syndrome:X-linked Recessive","Renpenning syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10084[geneid]~-~300463~-","PQBP1"]
["PQBP1","Mental retardation","Mental Retardation","X-linked Recessive","Renpenning syndrome:X-linked Recessive","Renpenning syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10084[geneid]~-~300463~-","PQBP1"]
["PQBP1","Mental retardation, X-linked","Mental Retardation","X-linked Recessive","Renpenning syndrome:X-linked Recessive","Renpenning syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10084[geneid]~-~300463~-","PQBP1"]
["PQBP1","Renpenning syndrome","Renpenning syndrome 1","X-linked Recessive","Renpenning syndrome:X-linked Recessive","Renpenning syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10084[geneid]~-~300463~-","PQBP1"]
["PRB4","Proline-rich protein PRB4 deficiency","NULL","No disease associated PMID 8554050","NULL","NULL","HIGH","-~-~180990~-","PRB4"]
["PRB4","Proline-rich protein PRB4 deficiency","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~180990~-","PRB4"]
["PRCD","Retinitis pigmentosa","Retinitis Pigmentosa 36;Retinitis pigmentosa","Autosomal Recessive","Retinitis Pigmentosa 36:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=768206[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~610598~-","PRCD"]
["PRCP","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~176785~-","PRCP"]
["PRDM16","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","-~-~605557~-","PRDM16"]
["PRDM16","Left ventricular noncompaction","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","-~-~605557~-","PRDM16"]
["PRDM5","Brittle cornea syndrome","Corneal fragility keratoglobus, blue sclerae AND joint hypermobility","Autosomal Recessive","Brittle cornea syndrome 2:Autosomal Recessive$Corneal fragility keratoglobus, blue sclerae AND joint hypermobility:Autosomal Recessive","Corneal fragility keratoglobus, blue sclerae AND joint hypermobility:Autosomal Recessive","HIGH","-~-~614161~-","PRDM5"]
["PRDM8","Lafora body disease, early-onset","Lafora disease","Autosomal Dominant",null,null,null,"-~-~-~-","PRDM8"]
["PRDM9","Altered meiotic recombination hotspot usage","NULL","No disease associated PMID 20044539","NULL","NULL","HIGH","-~-~609760~-","PRDM9"]
["PRDM9","Altered meiotic recombination hotspot usage","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~609760~-","PRDM9"]
["PRDM9","Azoospermia, non-obstructive","Azoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~609760~-","PRDM9"]
["PRDX4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606506~-","PRDX4"]
["PRF1","Anaplastic large cell lymphoma","Large cell anaplastic lymphoma","Risk","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Arthritis, juvenile","Juvenile idiopathic arthritis","Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Chronic active Epstein-Barr virus infection","Epstein-Barr virus infection","Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Cytophagic histiocytic panniculitis","Cytophagic histiocytic panniculitis","Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Diabetes, type 1","Diabetes mellitus type 1","Risk","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Haemophagocytic lymphohistiocytosis, familial","Familial hemophagocytic lymphohistiocytosis","Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Multiple sclerosis","Multiple sclerosis","Risk","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Non-Hodgkin lymphoma","Non-Hodgkin's lymphoma","Risk","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRF1","Perforin deficiency","Central Nervous System Vasculitis","Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Hemophagocytic lymphohistiocytosis, familial, 2:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","Hemophagocytic lymphohistiocytosis:Autosomal Recessive$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5551[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~170280~-","PRF1"]
["PRG4","Camptodactyly-arthropathy-coxa vara-pericarditis","Jacobs syndrome","Autosomal Recessive","Jacobs syndrome:Autosomal Recessive","Jacobs syndrome:Autosomal Recessive","HIGH","-~-~604283~-","PRG4"]
["PRICKLE1","Myoclonus epilepsy","Progressive myoclonic epilepsy","Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=144165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9674~608500~-","PRICKLE1"]
["PRICKLE1","Neural tube defects","Neural tube defect","Autosomal Dominant","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=144165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9674~608500~-","PRICKLE1"]
["PRICKLE1","Progressive myoclonus epilepsy-ataxia syndrome","Progressive myoclonic epilepsy","Autosomal Dominant","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=144165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9674~608500~-","PRICKLE1"]
["PRICKLE1","Progressive myoclonus epilepsy-ataxia syndrome","Progressive myoclonic epilepsy","Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","Progressive myoclonic epilepsy:Autosomal Dominant$Progressive myoclonic epilepsy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=144165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9674~608500~-","PRICKLE1"]
["PRICKLE2","Myoclonus epilepsy","Progressive myoclonic epilepsy","Autosomal Dominant","Progressive myoclonic epilepsy:Autosomal Dominant","Progressive myoclonic epilepsy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=166336[geneid]~-~608501~-","PRICKLE2"]
["PRKAG2","Cardiac glycogenosis","Cardiac glycogenosis","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG2","Cardiomyopathy","Cardiomyopathy","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG2","Cardiomyopathy, hypertrophic","Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG2","Hypertrophy, left ventricular","Left ventricular hypertrophy","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG2","Hypertrophy, moderate","Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG2","PRKAG2 cardiac syndrome","Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG2","Ventricular pre-excitation & cardiac hypertrophy","Primary familial hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG2","Wolff-Parkinson-White syndrome","Wolff-Parkinson-White pattern","Autosomal Dominant","Cardiomyopathy, familial hypertrophic 6:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","Hypertrophic cardiomyopathy:Autosomal Dominant$Glycogen storage disease of heart, lethal congenital:Autosomal Recessive$Wolff-Parkinson-White pattern:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51422[geneid]~-~602743~-","PRKAG2"]
["PRKAG3","Altered glycogen and triglyceride levels in muscle","Increased glycogen (muscle);Decreased Triglyceride","Autosomal Dominant","Increased glycogen (muscle):Autosomal Dominant","Increased glycogen (muscle):Autosomal Dominant","HIGH","-~-~604976~-","PRKAG3"]
["PRKAR1A","Acrodysostosis","Acrodysostosis","Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Malignant neoplasm of adrenal cortex:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant$ Intracardiac myxoma:Autosomal Dominant$Pigmented Nodular Adrenocortical Disease, Primary, 1:Autosomal Dominant$Papillary thyroid carcinoma:Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5573[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1286~188830~-","PRKAR1A"]
["PRKAR1A","Acrodysostosis with hormone resistance","Acrodysostosis","Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Malignant neoplasm of adrenal cortex:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant$ Intracardiac myxoma:Autosomal Dominant$Pigmented Nodular Adrenocortical Disease, Primary, 1:Autosomal Dominant$Papillary thyroid carcinoma:Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5573[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1286~188830~-","PRKAR1A"]
["PRKAR1A","Carney complex","Atrial myxoma with lentigines","Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Malignant neoplasm of adrenal cortex:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant$ Intracardiac myxoma:Autosomal Dominant$Pigmented Nodular Adrenocortical Disease, Primary, 1:Autosomal Dominant$Papillary thyroid carcinoma:Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5573[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1286~188830~-","PRKAR1A"]
["PRKAR1A","Carney complex, type 1","Atrial myxoma with lentigines","Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Malignant neoplasm of adrenal cortex:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant$ Intracardiac myxoma:Autosomal Dominant$Pigmented Nodular Adrenocortical Disease, Primary, 1:Autosomal Dominant$Papillary thyroid carcinoma:Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5573[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1286~188830~-","PRKAR1A"]
["PRKAR1A","Cushing syndrome","Hypercortisolism","Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Malignant neoplasm of adrenal cortex:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant$ Intracardiac myxoma:Autosomal Dominant$Pigmented Nodular Adrenocortical Disease, Primary, 1:Autosomal Dominant$Papillary thyroid carcinoma:Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5573[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1286~188830~-","PRKAR1A"]
["PRKAR1A","Myxoma, intracardiac","Myxoma","Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Malignant neoplasm of adrenal cortex:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant$ Intracardiac myxoma:Autosomal Dominant$Pigmented Nodular Adrenocortical Disease, Primary, 1:Autosomal Dominant$Papillary thyroid carcinoma:Autosomal Dominant","Acrodysostosis:Autosomal Dominant$Atrial myxoma with lentigines:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5573[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1286~188830~-","PRKAR1A"]
["PRKCD","B-cell deficiency & severe autoimmunity","Humoral immune defect;Autoimmune disease","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~-~176977~-","PRKCD"]
["PRKCD","B-cell lymphoproliferative syndrome","Lymphoproliferative disorder","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~-~176977~-","PRKCD"]
["PRKCD","Systemic lupus erythematosus","Systemic lupus erythematosus","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~-~176977~-","PRKCD"]
["PRKCG","Retinitis pigmentosa","NULL","Negated by PMID 11545739","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5582[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1399~176980~-","PRKCG"]
["PRKCG","Spinocerebellar ataxia 14","Spinocerebellar ataxia 14","Autosomal Dominant","Spinocerebellar ataxia 14:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5582[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1399~176980~-","PRKCG"]
["PRKCSH","Polycystic liver disease","Congenital cystic disease of liver","Autosomal Dominant","Polycystic liver disease:Autosomal Dominant","Polycystic liver disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5589[geneid]~-~177060~-","PRKCSH"]
["PRKG1","Thoracic aortic aneurysms and dissections","Congenital aneurysm of ascending aorta","Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","Congenital aneurysm of ascending aorta:Autosomal Dominant","HIGH","-~-~176894~-","PRKG1"]
["PRKRA","Dystonia-parkinsonism","Dystonia","Autosomal Recessive","Dystonia 16:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia:Autosomal Recessive$","HIGH","-~-~-~-","PACT"]
["PRKRA","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Dystonia 16:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia:Autosomal Recessive$","HIGH","-~-~-~-","PACT"]
["PRM1","Oligozoospermia","Oligozoospermia","Autosomal Dominant",null,null,"HIGH","-~-~182880~-","PRM1"]
["PRM2","Azoospermia","Azoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~182890~-","PRM2"]
["PRM2","Oligo-asthenozoospermia","Oligoasthenozoospermia","Risk",null,null,"HIGH","-~-~182890~-","PRM2"]
["PRMT10","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=90826[geneid]~-~-~-","PRMT10"]
["PRMT3","Decreased protein stability","NULL","No disease associated PMID 19702579","NULL","NULL","HIGH","-~-~603190~-","PRMT3"]
["PRMT3","Decreased protein stability","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~603190~-","PRMT3"]
["PRND","Creutzfeldt-Jakob disease","Jakob-Creutzfeldt disease","Risk","Jakob-Creutzfeldt disease:Risk","Jakob-Creutzfeldt disease:Risk","HIGH","-~-~604263~-","PRND"]
["PRNP","Creutzfeldt-Jakob syndrome","Jakob-Creutzfeldt disease","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Dementia","Dementia","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Dementia, neurodegenerative","Dementia","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Encephalopathy, familial","Encephalopathy","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Fatal familial insomnia","Fatal familial insomnia","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Gerstmann-Straeussler syndrome","Gerstmann-Straussler-Scheinker syndrome","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Gerstmann-Straeussler-Scheinker syndrome","Gerstmann-Straussler-Scheinker syndrome","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Huntington Disease-Like 1","Huntington Disease-Like 1","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Pan-autonomic failure, sensory neuropathy & cognitive impairment","Hereditary sensory and autonomic neuropathy","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Prion disease","Prion disease","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Schizoaffective disorder","Schizoaffective disorder","Risk","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Schizophrenia","Schizophrenia","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PRNP","Spongiform encephalopathy, familial","Spongiform encephalopathy","Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","Cerebral amyloid angiopathy:Autosomal Dominant$Jakob-Creutzfeldt disease:Autosomal Dominant$Gerstmann-Straussler-Scheinker syndrome:Autosomal Dominant$Huntington Disease-Like 1:Autosomal Dominant$Fatal familial insomnia:Autosomal Dominant$Prion disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1229~176640~-","PRNP"]
["PROC","Deep vein thrombosis","Venous thrombosis","Autosomal Dominant","Thrombophilia due to protein C deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia due to protein C deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5624[geneid]~-~612283~-","PROC"]
["PROC","Protein C deficiency","Hereditary thrombophilia;Hereditary protein C deficiency","Autosomal Dominant","Thrombophilia due to protein C deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia due to protein C deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5624[geneid]~-~612283~-","PROC"]
["PROC","Protein C deficiency, type I","Hereditary thrombophilia;Venous thrombosis;Heterozygous protein C deficiency","Autosomal Dominant","Thrombophilia due to protein C deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia due to protein C deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5624[geneid]~-~612283~-","PROC"]
["PROC","Protein C deficiency, type II","Hereditary thrombophilia;Homozygous protein C deficiency","Autosomal Recessive","Thrombophilia due to protein C deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia due to protein C deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5624[geneid]~-~612283~-","PROC"]
["PROC","Reduced Protein C levels","Venous thrombosis","Risk","Thrombophilia due to protein C deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia:Autosomal Dominant$Thrombophilia due to protein C deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5624[geneid]~-~612283~-","PROC"]
["PROCR","Late foetal loss","Fetal death","Risk",null,null,"HIGH","-~-~600646~-","PROCR"]
["PROCR","Venous thromboembolism","Thromboembolism of vein","Risk",null,null,"HIGH","-~-~600646~-","PROCR"]
["PRODH","Hyperprolinaemia","Proline dehydrogenase deficiency","Autosomal Recessive","Hyperprolinemia:Autosomal Recessive$Proline dehydrogenase deficiency:Autosomal Recessive","Hyperprolinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5625[geneid]~-~606810~-","PRODH"]
["PRODH","Increased proline level in schizophrenia","Proline dehydrogenase deficiency","Autosomal Recessive","Hyperprolinemia:Autosomal Recessive$Proline dehydrogenase deficiency:Autosomal Recessive","Hyperprolinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5625[geneid]~-~606810~-","PRODH"]
["PROK1","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant",null,null,"HIGH","-~-~606233~-","PROK1"]
["PROK2","Anosmia, isolated congenital","Congenital anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607002~-","PROK2"]
["PROK2","GnRH deficiency","Hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607002~-","PROK2"]
["PROK2","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60675[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607002~-","PROK2"]
["PROKR2","GnRH deficiency","Hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607123~-","PROKR2"]
["PROKR2","Hirschsprung disease","Hirschsprung's disease","Risk","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607123~-","PROKR2"]
["PROKR2","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607123~-","PROKR2"]
["PROKR2","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607123~-","PROKR2"]
["PROKR2","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607123~-","PROKR2"]
["PROKR2","Kallmann syndrome, reversible","Hypogonadism with anosmia;Oligozoospermia","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=128674[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1334~607123~-","PROKR2"]
["PROM1","Cone-rod dystrophy","Cone-Rod Dystrophy 12;Retinitis pigmentosa","Autosomal Dominant","Cone-Rod Dystrophy 12:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis Pigmentosa 41:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 4:Autosomal Dominant$Stargardt's disease:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8842[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604365~-","PROM1"]
["PROM1","Macular degeneration","Degenerative disorder of macula;Stargardt disease 4;Stargardt's disease","Autosomal Dominant","Cone-Rod Dystrophy 12:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis Pigmentosa 41:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 4:Autosomal Dominant$Stargardt's disease:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8842[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604365~-","PROM1"]
["PROM1","Retinal degeneration","Retinal Degeneration","Autosomal Recessive","Cone-Rod Dystrophy 12:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis Pigmentosa 41:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 4:Autosomal Dominant$Stargardt's disease:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8842[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604365~-","PROM1"]
["PROM1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Cone-Rod Dystrophy 12:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis Pigmentosa 41:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive$Stargardt disease 4:Autosomal Dominant$Stargardt's disease:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Bull's eye macular dystrophy:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Stargardt's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8842[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~604365~-","PROM1"]
["PROP1","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Pituitary Hormone Deficiency, Combined, 2:Autosomal Recessive$Pituitary hormone deficiency:Autosomal Recessive","Pituitary hormone deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1347~601538~-","PROP1"]
["PROP1","Pituitary hormone deficiency","Pituitary Hormone Deficiency, Combined, 2","Autosomal Recessive","Pituitary Hormone Deficiency, Combined, 2:Autosomal Recessive$Pituitary hormone deficiency:Autosomal Recessive","Pituitary hormone deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1347~601538~-","PROP1"]
["PROS1","Deep vein thrombosis","Deep venous thrombosis","Autosomal Dominant","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Protein S deficiency","Protein S deficiency disease","Autosomal Dominant","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Protein S deficiency","Protein S deficiency disease","Autosomal Recessive","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Protein S deficiency with thrombophilia","Protein S deficiency disease;Hereditary thrombophilia","Autosomal Dominant","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Protein S deficiency with thrombophilia","Protein S deficiency disease;Hereditary thrombophilia","Autosomal Recessive","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Protein S deficiency, type I","Protein S deficiency disease;Hereditary thrombophilia","Autosomal Dominant","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Protein S deficiency, type I/III","Protein S deficiency disease;Hereditary thrombophilia","Autosomal Dominant","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Protein S deficiency, type III","Protein S deficiency disease;Hereditary thrombophilia","Autosomal Dominant","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROS1","Reduced plasma Protein S","Deep venous thrombosis","Autosomal Dominant","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant:Autosomal Dominant$Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive:Autosomal Recessive$Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Thrombophilia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5627[geneid]~-~176880~-","PROS1"]
["PROX2","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~615094~-","PROX2"]
["PROZ","Deep vein thrombosis","Deep venous thrombosis","Autosomal Dominant","Protein Z deficiency:Autosomal Dominant","Protein Z deficiency:Autosomal Dominant","HIGH","-~-~176895~-","PROZ"]
["PROZ","Protein Z deficiency","Thrombosis","Autosomal Dominant","Protein Z deficiency:Autosomal Dominant","Protein Z deficiency:Autosomal Dominant","HIGH","-~-~176895~-","PROZ"]
["PROZ","Thrombosis","Thrombosis","Autosomal Dominant","Protein Z deficiency:Autosomal Dominant","Protein Z deficiency:Autosomal Dominant","HIGH","-~-~176895~-","PROZ"]
["PRPF3","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 18:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9129[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~607301~-","PRPF3"]
["PRPF31","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 11:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~606419~-","PRPF31"]
["PRPF31","Retinitis pigmentosa, Autosomal Dominant","Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 11:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~606419~-","PRPF31"]
["PRPF39","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~614907~-","PRPF39"]
["PRPF6","Phenotype modifier","Adult neuronal ceroid lipofuscinosis","Modifier","Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~613979~-","PRPF6"]
["PRPF6","Retinitis pigmentosa, Autosomal Dominant","Retinitis pigmentosa","Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~613979~-","PRPF6"]
["PRPF8","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 13:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10594[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~607300~-","PRPF8"]
["PRPH","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~170710~-","PRPH"]
["PRPH","High myopia","NULL","No association with disease PMID 16135441","NULL","NULL","HIGH","-~-~170710~-","PRPH"]
["PRPH2","Butterfly dystrophy","Pattern dystrophy of macula","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Central areolar choroidal dystrophy","Central areolar choroidal sclerosis","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Cone / cone-rod dystrophy","Retinitis pigmentosa","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Cone dystrophy","Cone dystrophy","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Cone-rod degeneration","Retinitis Pigmentosa","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Cone-rod dystrophy","Retinitis pigmentosa","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Foveal dystrophy","Hyaline dystrophy of Bruch's membrane","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Foveamacular dystrophy","Adult vitelliform macular dystrophy","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Foveamacular dystrophy, adult onset","Adult vitelliform macular dystrophy","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Macular dystrophy","Hereditary macular dystrophy","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Pattern dystrophy","Pattern dystrophy of macula","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Pattern/cone-rod dystrophy","Pattern dystrophy of macula;Retinitis pigmentosa","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Retinal dystrophy","Hereditary retinal dystrophy","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Retinal pattern dystrophy","Hereditary retinal dystrophy","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Retinitis punctata albescens","Retinitis punctata albescens","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPH2","Stargardt disease","Stargardt's disease","Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis Pigmentosa 7:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","Central areolar choroidal sclerosis:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Macular dystrophy:Autosomal Dominant$Pattern dystrophy of macula:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5961[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~179605~-","PRPH2"]
["PRPS1","Charcot-Marie-Tooth disease 5","Charcot-Marie-Tooth disease","X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Optic atrophy polyneuropathy deafness:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness, X-Linked 1:X-linked dominant$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5631[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK57098$http://www.ncbi.nlm.nih.gov/books/NBK1973$http://www.ncbi.nlm.nih.gov/books/NBK2591$http://www.ncbi.nlm.nih.gov/books/NBK1876~311850~-","PRPS1"]
["PRPS1","Phosphoribosylpyrophosphate synthetase deficiency","Deficiency of ribose-phosphate pyrophosphokinase;Arts syndrome","X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Optic atrophy polyneuropathy deafness:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness, X-Linked 1:X-linked dominant$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5631[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK57098$http://www.ncbi.nlm.nih.gov/books/NBK1973$http://www.ncbi.nlm.nih.gov/books/NBK2591$http://www.ncbi.nlm.nih.gov/books/NBK1876~311850~-","PRPS1"]
["PRPS1","Phosphoribosylpyrophosphate synthetase superactivity","Phosphoribosylpyrophosphate Synthetase Superactivity","X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Optic atrophy polyneuropathy deafness:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness, X-Linked 1:X-linked dominant$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5631[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK57098$http://www.ncbi.nlm.nih.gov/books/NBK1973$http://www.ncbi.nlm.nih.gov/books/NBK2591$http://www.ncbi.nlm.nih.gov/books/NBK1876~311850~-","PRPS1"]
["PRPS1","Phosphoribosylpyrophosphate synthetase superactivity & recurrent infections","Phosphoribosylpyrophosphate Synthetase Superactivity","X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Optic atrophy polyneuropathy deafness:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness, X-Linked 1:X-linked dominant$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5631[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK57098$http://www.ncbi.nlm.nih.gov/books/NBK1973$http://www.ncbi.nlm.nih.gov/books/NBK2591$http://www.ncbi.nlm.nih.gov/books/NBK1876~311850~-","PRPS1"]
["PRPS1","Rosenberg-Chutorian syndrome","Charcot-Marie-Tooth disease","X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Optic atrophy polyneuropathy deafness:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness, X-Linked 1:X-linked dominant$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5631[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK57098$http://www.ncbi.nlm.nih.gov/books/NBK1973$http://www.ncbi.nlm.nih.gov/books/NBK2591$http://www.ncbi.nlm.nih.gov/books/NBK1876~311850~-","PRPS1"]
["PRPS1","Sensorineural deafness, nonsyndromic","Sensorineural hearing loss","X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Optic atrophy polyneuropathy deafness:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness, X-Linked 1:X-linked dominant$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","Charcot-Marie-Tooth disease:X-linked Recessive$Arts syndrome:X-linked Recessive$Deafness:X-linked dominant$Gout:X-linked Recessive$Phosphoribosylpyrophosphate Synthetase Superactivity:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5631[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK57098$http://www.ncbi.nlm.nih.gov/books/NBK1973$http://www.ncbi.nlm.nih.gov/books/NBK2591$http://www.ncbi.nlm.nih.gov/books/NBK1876~311850~-","PRPS1"]
["PRRT2","Benign familial infantile epilepsy","Benign neonatal familial convulsions","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRT2","Infantile convulsions with paroxysmal choreoathetosis","Infantile convulsions and paroxysmal choreoathetosis, familial","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRT2","Infantile convulsions, paroxysmal dyskinesia & migraine","Convulsions, infantile;Paroxysmal Dyskinesia;Migraine","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRT2","Paroxysmal kinesigenic choreoathetosis","Paroxysmal kinesigenic choreoathetosis","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRT2","Paroxysmal kinesigenic dyskinesia","Paroxysmal kinesigenic choreoathetosis","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRT2","Paroxysmal kinesigenic dyskinesia / benign familial infantile convulsions","Paroxysmal kinesigenic choreoathetosis;Benign neonatal familial convulsions","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRT2","Paroxysmal kinesigenic dyskinesia with infantile convulsions","Paroxysmal kinesigenic choreoathetosis;Benign neonatal familial convulsions","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRT2","Paroxysmal kinesigenic dyskinesia with migraine","Paroxysmal kinesigenic choreoathetosis;Migraine","Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","Infantile convulsions and paroxysmal choreoathetosis, familial:Autosomal Dominant$Paroxysmal kinesigenic choreoathetosis:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=112476[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1460~614386~-","PRRT2"]
["PRRX1","Agnathia-otocephaly","Dysgnathia complex","Autosomal Dominant","Dysgnathia complex:Autosomal Dominant","Dysgnathia complex:Autosomal Dominant","HIGH","-~-~167420~-","PRRX1"]
["PRSS1","Pancreatic cancer","Malignant tumor of pancreas","Risk","Hereditary pancreatitis:Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5644[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84399~276000~-","PRSS1"]
["PRSS1","Pancreatitis, acute recurrent","Acute recurrent pancreatitis","Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5644[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84399~276000~-","PRSS1"]
["PRSS1","Pancreatitis, autoimmune","Autoimmune pancreatitis","Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5644[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84399~276000~-","PRSS1"]
["PRSS1","Pancreatitis, chronic","Chronic pancreatitis","Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5644[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84399~276000~-","PRSS1"]
["PRSS1","Pancreatitis, hereditary","Hereditary pancreatitis","Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5644[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84399~276000~-","PRSS1"]
["PRSS1","Pancreatitis, protection against","Pancreatitis","Decreased Risk","Hereditary pancreatitis:Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5644[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84399~276000~-","PRSS1"]
["PRSS1","Solid pseudopapillary tumours","Papillary cystic tumor","Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","Hereditary pancreatitis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5644[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84399~276000~-","PRSS1"]
["PRSS12","Mental retardation, non-syndromic, Autosomal Recessive","Mental Retardation","Autosomal Recessive","Mental retardation, Autosomal Recessive 1:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8492[geneid]~-~606709~-","PRSS12"]
["PRSS56","Microphthalmia","Microphthalmos","Autosomal Recessive","Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~-~613858~-","PRSS56"]
["PRSS56","Nanophthalmos","Simple microphthalmos","Autosomal Recessive","Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~-~613858~-","PRSS56"]
["PRSS56","Posterior microphthalmos","Microphthalmos","Autosomal Recessive","Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~-~613858~-","PRSS56"]
["PRSS7","Enteropeptidase deficiency","Deficiency of enteropeptidase","Autosomal Recessive","Deficiency of enteropeptidase:Autosomal Recessive","Deficiency of enteropeptidase:Autosomal Recessive","HIGH","-~-~606635~-","TMPRSS15"]
["PRSS8","Hypertension","Essential Hypertension","Risk",null,null,"HIGH","-~-~600823~-","PRSS8"]
["PRX","Charcot-Marie-Tooth disease","Congenital hypomyelinating neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease, Autosomal Recessive:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605725~-","PRX"]
["PRX","Charcot-Marie-Tooth disease 4","Congenital hypomyelinating neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease, Autosomal Recessive:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605725~-","PRX"]
["PRX","Charcot-Marie-Tooth disease 4F","D?j?rine-Sottas disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease, Autosomal Recessive:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605725~-","PRX"]
["PRX","Dejerine-Sottas syndrome","D?j?rine-Sottas disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease, Autosomal Recessive:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605725~-","PRX"]
["PRX","Hereditary motor & sensory neuropathy","Hereditary motor and sensory neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease, Autosomal Recessive:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605725~-","PRX"]
["PRX","Neuropathy, periaxin-related","Neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease, Autosomal Recessive:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Dejerine-Sottas disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57716[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~605725~-","PRX"]
["PSAP","Gaucher disease, atypical","Gaucher Disease, Atypical, Due To Saposin C Deficiency","Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease, Atypical, Due To Saposin C Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease, Atypical, due to Saposin A Deficiency:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5660[geneid]~-~176801~-","PSAP"]
["PSAP","Metachromatic leukodystrophy","Metachromatic leucodystrophy","Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease, Atypical, Due To Saposin C Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease, Atypical, due to Saposin A Deficiency:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5660[geneid]~-~176801~-","PSAP"]
["PSAP","Prosaposin deficiency","Combined Saposin Deficiency","Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease, Atypical, Due To Saposin C Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease, Atypical, due to Saposin A Deficiency:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5660[geneid]~-~176801~-","PSAP"]
["PSAP","Saposin A deficiency","Sphingolipid activator protein 1 deficiency;Krabbe Disease, Atypical, due to Saposin A Deficiency","Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease, Atypical, Due To Saposin C Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease, Atypical, due to Saposin A Deficiency:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5660[geneid]~-~176801~-","PSAP"]
["PSAP","Saposin B deficiency","Sphingolipid activator protein 1 deficiency","Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease, Atypical, Due To Saposin C Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease, Atypical, due to Saposin A Deficiency:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5660[geneid]~-~176801~-","PSAP"]
["PSAP","Saposin C deficiency","Gaucher Disease, Atypical, Due To Saposin C Deficiency","Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease, Atypical, Due To Saposin C Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease, Atypical, due to Saposin A Deficiency:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","Combined Saposin Deficiency:Autosomal Recessive$Gaucher Disease:Autosomal Recessive$Krabbe Disease:Autosomal Recessive$Metachromatic leucodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5660[geneid]~-~176801~-","PSAP"]
["PSAT1","Phosphoserine aminotransferase deficiency","Phosphoserine Aminotransferase Deficiency","Autosomal Recessive","Phosphoserine Aminotransferase Deficiency:Autosomal Recessive","Phosphoserine Aminotransferase Deficiency:Autosomal Recessive","HIGH","-~-~610936~-","PSAT1"]
["PSEN1","Acne inversa, familial","Hidradenitis suppurativa, familial","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Alzheimer disease","Alzheimer's disease","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Alzheimer disease with epilepsy and frontotemporal atrophy","Alzheimer's disease;Epilepsy","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Alzheimer disease, ataxic variant","Alzheimer's disease","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Alzheimer disease, early onset","Alzheimer disease, familial, type 3","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Alzheimer disease, early onset & presenile dementia","Alzheimer disease, familial, type 3","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Alzheimer disease, early onset & spastic paraparesis","Alzheimer disease, familial, type 3","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Alzheimer disease, early-onset","Alzheimer's disease","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Autism","Autistic Disorder","Risk","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Cardiomyopathy, dilated, and heart failure","Dilated cardiomyopathy","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Dementia","Dementia","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Dementia with Lewy bodies and Alzheimer disease","Diffuse Lewy body disease","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Dementia, pyramidal system involvement, and leukoencephalopathy","Dementia;Leukoencephalopathy","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Frontotemporal dementia","Dementia","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Language impairment","Disorder of language","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Posterior cortical atrophy","Cerebral atrophy","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Presenile dementia and parkinsonism","Presenile dementia;Parkinsonism","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN1","Subcortical dementia and parkinsonism","Subcortical vascular dementia;Parkinsonism","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Alzheimer disease, familial, type 3:Autosomal Dominant$Cardiomyopathy, Dilated, 1U:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant$Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Dementia:Autosomal Dominant$Pick's disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5663[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1236~104311~-","PSEN1"]
["PSEN2","Alzheimer disease","Alzheimer's disease","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer disease type 4:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1V:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236$http://www.ncbi.nlm.nih.gov/books/NBK1309~600759~-","PSEN2"]
["PSEN2","Alzheimer disease, atypical","Alzheimer's disease","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer disease type 4:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1V:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236$http://www.ncbi.nlm.nih.gov/books/NBK1309~600759~-","PSEN2"]
["PSEN2","Alzheimer disease, early onset","Alzheimer's disease","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer disease type 4:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1V:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236$http://www.ncbi.nlm.nih.gov/books/NBK1309~600759~-","PSEN2"]
["PSEN2","Behavioural abnormalities and language impairment","Behavioral disability;Disorder of language","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer disease type 4:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1V:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236$http://www.ncbi.nlm.nih.gov/books/NBK1309~600759~-","PSEN2"]
["PSEN2","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer disease type 4:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1V:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236$http://www.ncbi.nlm.nih.gov/books/NBK1309~600759~-","PSEN2"]
["PSEN2","Lewy body dementia with parkinsonism","Diffuse Lewy body disease;Parkinsonism","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer disease type 4:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1V:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236$http://www.ncbi.nlm.nih.gov/books/NBK1309~600759~-","PSEN2"]
["PSEN2","Parkinson disease with dementia","Dementia associated with Parkinson's Disease","Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Alzheimer disease type 4:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1V:Autosomal Dominant","Alzheimer's disease:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5664[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1236$http://www.ncbi.nlm.nih.gov/books/NBK1309~600759~-","PSEN2"]
["PSENEN","Acne inversa, familial","Hidradenitis suppurativa, familial","Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant","Hidradenitis suppurativa, familial:Autosomal Dominant","HIGH","-~-~607632~-","PSENEN"]
["PSENEN","Alzheimer disease","NULL","Disease association unclear PMID 16170650","NULL","NULL","HIGH","-~-~607632~-","PSENEN"]
["PSMA7","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~606607~-","PSMA7"]
["PSMB8","CANDLE syndrome","Hereditary Autoinflammation Disease;Lipodystrophy;Dermatosis","Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5696[geneid]~-~177046~-","PSMB8"]
["PSMB8","JMP syndrome","Hereditary Autoinflammation Disease;Lipodystrophy;Dermatosis","Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5696[geneid]~-~177046~-","PSMB8"]
["PSMB8","Nakajo-Nishimura syndrome","Hereditary Autoinflammation Disease;Lipodystrophy;Dermatosis","Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5696[geneid]~-~177046~-","PSMB8"]
["PSMB8","Proteasome-associated auto-inflammatory syndrome","Hereditary Autoinflammation Disease","Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","Autoinflammation, lipodystrophy, and dermatosis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5696[geneid]~-~177046~-","PSMB8"]
["PSMC3IP","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Autosomal Dominant","Pure gonadal dysgenesis 46,XX:Autosomal Recessive","Pure gonadal dysgenesis 46,XX:Autosomal Recessive","HIGH","-~-~608665~-","PSMC3IP"]
["PSMC3IP","XX gonadal dysgenesis","Pure gonadal dysgenesis 46,XX","Autosomal Recessive","Pure gonadal dysgenesis 46,XX:Autosomal Recessive","Pure gonadal dysgenesis 46,XX:Autosomal Recessive","HIGH","-~-~608665~-","PSMC3IP"]
["PSPH","3-phosphoserine phosphatase deficiency","Deficiency of phosphoserine phosphatase","Autosomal Recessive","Phosphoserine phosphatase deficiency:Autosomal Recessive","Phosphoserine phosphatase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5723[geneid]~-~172480~-","PSPH"]
["PSPN","Aganglionosis, in Hirschsprung disease","Hirschsprung's disease","Modifier",null,null,"HIGH","-~-~602921~-","PSPN"]
["PSTPIP1","PAPA syndrome","Pyogenic arthritis, pyoderma gangrenosum, and acne","Autosomal Dominant","Pyogenic arthritis, pyoderma gangrenosum, and acne:Autosomal Dominant","Pyogenic arthritis, pyoderma gangrenosum, and acne:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9051[geneid]~-~606347~-","PSTPIP1"]
["PSTPIP1","PAPASH syndrome","Pyogenic arthritis, pyoderma gangrenosum, and acne","Autosomal Dominant","Pyogenic arthritis, pyoderma gangrenosum, and acne:Autosomal Dominant","Pyogenic arthritis, pyoderma gangrenosum, and acne:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9051[geneid]~-~606347~-","PSTPIP1"]
["PSTPIP1","Pyoderma gangrenosum","Pyoderma gangrenosum","Autosomal Dominant","Pyogenic arthritis, pyoderma gangrenosum, and acne:Autosomal Dominant","Pyogenic arthritis, pyoderma gangrenosum, and acne:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9051[geneid]~-~606347~-","PSTPIP1"]
["PTCD1","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk",null,null,"HIGH","-~-~614774~-","PTCD1"]
["PTCH1","Basal cell carcinoma","Basal cell carcinoma","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH1","Congenital heart disease","Congenital heart disease","Risk","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH1","Gorlin syndrome","Gorlin syndrome","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH1","Gorlin-syndrome-related odontogenic keratocysts","Gorlin syndrome;Primordial cyst","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH1","Holoprosencephaly","Holoprosencephaly sequence","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH1","Multiple basal cell carcinoma","Gorlin syndrome","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH1","Nevoid basal cell carcinoma syndrome","Gorlin syndrome","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH1","Odontogenic keratocysts","Primordial cyst","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly 7:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Gorlin syndrome:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5727[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1151$http://www.ncbi.nlm.nih.gov/books/NBK1530~601309~-","PTCH1"]
["PTCH2","Macrostomia","Congenital macrostomia","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Medulloblastoma:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Medulloblastoma:Autosomal Dominant","HIGH","-~-~603673~-","PTCH2"]
["PTCH2","Nevoid basal cell carcinoma syndrome","Gorlin syndrome","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Medulloblastoma:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Medulloblastoma:Autosomal Dominant","HIGH","-~-~603673~-","PTCH2"]
["PTCHD1","Autism spectrum disorder","Autistic Disorder","X-linked Recessive","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=139411[geneid]~-~300828~-","PTCHD1"]
["PTCHD1","Intellectual disability","Intellectual Disability","X-linked Recessive","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=139411[geneid]~-~300828~-","PTCHD1"]
["PTCHD3","Autism spectrum disorder","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~611791~-","PTCHD3"]
["PTCHD3","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~611791~-","PTCHD3"]
["PTEN","Autism","Autistic Disorder","Risk","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Autism spectrum disorder and macrocephaly","Autistic Disorder;Macroencephaly","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Autism spectrum disorders, developmental delay and macrocephaly","Autistic Disorder;Developmental delay;Macroencephaly","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Bannayan-Riley-Ruvalcaba syndrome","Bannayan syndrome","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Bannayan-Zonana syndrome","Bannayan syndrome","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Cowden / Bannayan-Riley-Ruvalcaba syndromes","Cowden syndrome;Bannayan syndrome","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Cowden / Cowden-like syndrome with thyroid cancer","Cowden syndrome;Malignant tumor of thyroid gland","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Cowden disease","Cowden syndrome","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Cowden disease / Sjogren's syndrome","Cowden syndrome;Sjogren's syndrome","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Developmental delay","Developmental delay","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Developmental delay and macrocephaly","Developmental delay;Macroencephaly","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Gastrointestinal polyposis","Diffuse gastrointestinal polyposis disease","Autosomal Dominant","Bannayan-Riley-Ruvalcaba syndrome:Autosomal Dominant$Bannayan-Riley-Ruvalcaba syndrome$Cowden syndrome 1:Autosomal Dominant$Cowden syndrome 1$Endometrial carcinoma, somatic$Lhermitte-Duclos syndrome:Autosomal Dominant$Lhermitte-Duclos syndrome$Macrocephaly/autism syndrome$Malignant melanoma, somatic:Autosomal Dominant$Malignant melanoma, somatic$PTEN hamartoma tumor syndrome$Squamous cell carcinoma, head and neck, somatic:Autosomal Recessive$Squamous cell carcinoma, head and neck, somatic$Thyroid carcinoma, follicular, somatic:Autosomal Dominant$Thyroid carcinoma, follicular, somatic$VATER association with macrocephaly and ventriculomegaly:? Autosomal Recessive$VATER association with macrocephaly and ventriculomegaly","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Hamartoma tumour syndrome","Hamartoma","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Hyperplastic polyps and tubular adenomas","Hyperplastic polyp;Tubular adenoma","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Hypoglycaemia, macrocephaly, developmental delay, short stature and coagulopathy","Hypoglycemia;Macrocephaly;Developmental delay;Short stature;Blood coagulation disorder","Autosomal Dominant","Bannayan-Riley-Ruvalcaba syndrome:Autosomal Dominant$Bannayan-Riley-Ruvalcaba syndrome$Cowden syndrome 1:Autosomal Dominant$Cowden syndrome 1$Endometrial carcinoma, somatic$Lhermitte-Duclos syndrome:Autosomal Dominant$Lhermitte-Duclos syndrome$Macrocephaly/autism syndrome$Malignant melanoma, somatic:Autosomal Dominant$Malignant melanoma, somatic$PTEN hamartoma tumor syndrome$Squamous cell carcinoma, head and neck, somatic:Autosomal Recessive$Squamous cell carcinoma, head and neck, somatic$Thyroid carcinoma, follicular, somatic:Autosomal Dominant$Thyroid carcinoma, follicular, somatic$VATER association with macrocephaly and ventriculomegaly:? Autosomal Recessive$VATER association with macrocephaly and ventriculomegaly","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Increased expression","NULL","No association with disease PMID 20862607","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Juvenile polyposis coli","Juvenile Polyposis Coli","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Lhermitte-Duclos disease","Lhermitte-Duclos disease","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Macrocephaly, hypotonia & learning disabilities","Macrocephaly;Hypotonia;Learning disability","Autosomal Dominant","Bannayan-Riley-Ruvalcaba syndrome:Autosomal Dominant$Bannayan-Riley-Ruvalcaba syndrome$Cowden syndrome 1:Autosomal Dominant$Cowden syndrome 1$Endometrial carcinoma, somatic$Lhermitte-Duclos syndrome:Autosomal Dominant$Lhermitte-Duclos syndrome$Macrocephaly/autism syndrome$Malignant melanoma, somatic:Autosomal Dominant$Malignant melanoma, somatic$PTEN hamartoma tumor syndrome$Squamous cell carcinoma, head and neck, somatic:Autosomal Recessive$Squamous cell carcinoma, head and neck, somatic$Thyroid carcinoma, follicular, somatic:Autosomal Dominant$Thyroid carcinoma, follicular, somatic$VATER association with macrocephaly and ventriculomegaly:? Autosomal Recessive$VATER association with macrocephaly and ventriculomegaly","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Mental retardation","Mental Retardation","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Multiple cancers","Multiple malignancy","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Neurodevelopmental disorders and macrocephaly with autism","Neurodevelopmental disorder;Macroencephaly;Autistic Disorder","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Neurodevelopmental disorders and macrocephaly without autism","Neurodevelopmental disorder;Macroencephaly","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Proteus syndrome","Proteus syndrome","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","Proteus-like syndrome","Proteus Like Syndrome","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTEN","PTEN hamartoma-tumour syndrome","Hamartoma","Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","Bannayan syndrome:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Endometrial carcinoma:Autosomal Dominant$Lhermitte-Duclos syndrome:Autosomal Dominant$Macrocephaly Autism Syndrome:Autosomal Dominant$Malignant melanoma:Autosomal Dominant$Hamartoma:Autosomal Dominant$Squamous cell carcinoma of the head and neck:Autosomal Dominant$Follicular thyroid carcinoma:Autosomal Dominant$VATER Association With Macrocephaly And Ventriculomegaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5728[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1488~601728~-","PTEN"]
["PTF1A","Cerebellar agenesis","Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis","Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=256297[geneid]~-~607194~-","PTF1A"]
["PTF1A","Pancreatic and cerebellar agenesis","Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis","Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:Autosomal Recessive","Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=256297[geneid]~-~607194~-","PTF1A"]
["PTGIR","Decreased protein expression","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~600022~-","PTGIR"]
["PTGIR","Impaired receptor binding and activation","Disorder of cardiovascular system","Modifier","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~600022~-","PTGIR"]
["PTGIR","Reduced agonist binding and activation","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~600022~-","PTGIR"]
["PTGIR","Reduced cell surface expression","Disorder of cardiovascular system","Risk","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~600022~-","PTGIR"]
["PTGIS","Hypertension","Essential hypertension","Autosomal Dominant","Essential hypertension:Autosomal Dominant","Essential hypertension:Autosomal Dominant","HIGH","-~-~601699~-","PTGIS"]
["PTGS2","Altered enzyme activity","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~600262~-","PTGS2"]
["PTH","Hypoparathyroidism","Hypoparathyroidism","Autosomal Dominant","Hypoparathyroidism:Autosomal Dominant$Hypoparathyroidism:Autosomal Recessive","Hypoparathyroidism:Autosomal Dominant$Hypoparathyroidism:Autosomal Recessive","HIGH","-~-~168450~-","PTH"]
["PTH","Hypoparathyroidism","Hypoparathyroidism","Autosomal Recessive","Hypoparathyroidism:Autosomal Dominant$Hypoparathyroidism:Autosomal Recessive","Hypoparathyroidism:Autosomal Dominant$Hypoparathyroidism:Autosomal Recessive","HIGH","-~-~168450~-","PTH"]
["PTH1R","Eiken skeletal dysplasia","Eiken Skeletal Dysplasia","Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH1R","Metaphyseal chondrodysplasia","Metaphyseal chondrodysplasia, Jansen type","Autosomal Dominant","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH1R","Nonsyndromic primary failure of tooth eruption","Failure of tooth eruption","Autosomal Dominant","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH1R","Ollier disease","Enchondromatosis","Autosomal Dominant","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH1R","Osteochondrodysplasia, Blomstrand","Chondrodysplasia, blomstrand type","Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH1R","Osteochondrodysplasia, Blomstrand, type 1","Chondrodysplasia, blomstrand type","Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH1R","Primary failure of eruption","Failure of tooth eruption","Autosomal Dominant","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH1R","Primary failure of tooth eruption","Failure of tooth eruption","Autosomal Dominant","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, Jansen type:Autosomal Dominant$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia, blomstrand type:Autosomal Recessive$Chondrodysplasia:Autosomal Recessive","Eiken Skeletal Dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Dominant$Failure of tooth eruption:Autosomal Dominant$Chondrodysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5745[geneid]~-~168468~-","PTH1R"]
["PTH2R","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601469~-","PTH2R"]
["PTHLH","Brachydactyly type E","Brachydactyly syndrome type E","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly syndrome type E:Autosomal Dominant$Humoral hypercalcemia of malignancy:Risk","Brachydactyly:Autosomal Dominant$Humoral hypercalcemia of malignancy:Risk","HIGH","-~-~168470~-","PTHLH"]
["PTK7","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601890~-","PTK7"]
["PTPN1","Higher triglyceride levels","Obesity","Risk","Insulin resistance:Risk","Insulin resistance:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5770[geneid]~-~176885~-","PTPN1"]
["PTPN11","Atrioventricular septal defect","Atrioventricular septal defect","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","Behcet's disease","Behcet's syndrome","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","Glioma","Glioma","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","LEOPARD syndrome","Multiple lentigines syndrome","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","Metachondrochromatosis","Metachondromatosis","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","ML / LEOPARD syndrome","Multiple lentigines syndrome","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","Noonan syndrome","Noonan's syndrome","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","Noonan syndrome with juvenile myelomonocytic leukaemia","Noonan's syndrome;Juvenile myelomonocytic leukemia","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","Noonan syndrome with multifocal ductal breast cancer","Noonan's syndrome;Intraductal carcinoma of breast","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN11","Noonan syndrome with neuroblastoma","Noonan's syndrome;Neuroblastoma","Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$LEOPARD syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Juvenile myelomonocytic leukemia:Autosomal Dominant$Metachondromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5781[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124$http://www.ncbi.nlm.nih.gov/books/NBK1383~176876~-","PTPN11"]
["PTPN2","Decreased expression","Autoimmune disease","Risk","Autoimmune disease:Risk","Autoimmune disease:Risk","HIGH","-~-~176887~-","PTPN2"]
["PTPN6","Neutrophilic dermatosis, acute febrile","Acute febrile neutrophilic dermatosis","Autosomal Dominant","Dermatosis:Autosomal Dominant","Dermatosis:Autosomal Dominant","HIGH","-~-~176883~-","PTPN6"]
["PTPRC","Defective splicing","Immune response","Modifier","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe Combined Immunodeficiency Disease:Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe Combined Immunodeficiency Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5788[geneid]~-~151460~-","PTPRC"]
["PTPRC","Immunodeficiency, severe combined","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive","Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe Combined Immunodeficiency Disease:Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe Combined Immunodeficiency Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5788[geneid]~-~151460~-","PTPRC"]
["PTPRC","Variant CD45 expression","Immune response","Modifier","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe Combined Immunodeficiency Disease:Autosomal Recessive","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive:Autosomal Recessive$Severe Combined Immunodeficiency Disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5788[geneid]~-~151460~-","PTPRC"]
["PTPRD","Ewing sarcoma","Ewings sarcoma","Risk",null,null,"HIGH","-~-~601598~-","PTPRD"]
["PTPRF","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~179590~-","PTPRF"]
["PTPRK","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602545~-","PTPRK"]
["PTPRO","Nephrotic syndrome, childhood-onset","Nephrotic syndrome","Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","Nephrotic syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5800[geneid]~-~600579~-","PTPRO"]
["PTRF","Lipodystrophy, congenital generalized","Familial generalized lipodystrophy","Autosomal Recessive","Lipodystrophy, Congenital Generalized, Type 4:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive","Generalized lipodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284119[geneid]~-~603198~-","PTRF"]
["PTRF","Lipodystrophy, congenital generalized type 4","Lipodystrophy, Congenital Generalized, Type 4","Autosomal Recessive","Lipodystrophy, Congenital Generalized, Type 4:Autosomal Recessive$Generalized lipodystrophy:Autosomal Recessive","Generalized lipodystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284119[geneid]~-~603198~-","PTRF"]
["PTS","6-pyruvoyl-tetrahydropterin synthase deficiency","6-Pyruvoyl-tetrahydrobiopterin synthase deficiency","Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive$6-pyruvoyl-tetrahydropterin synthase deficiency:Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5805[geneid]~-~612719~-","PTS"]
["PTS","Hyperphenylalaninaemia","Hyperphenylalaninemia","Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive$6-pyruvoyl-tetrahydropterin synthase deficiency:Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5805[geneid]~-~612719~-","PTS"]
["PTS","Tetrahydrobiopterin deficiency","Tetrahydrobiopterin synthesis defect","Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive$6-pyruvoyl-tetrahydropterin synthase deficiency:Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5805[geneid]~-~612719~-","PTS"]
["PUS1","Mitochondrial myopathy and sideroblastic anaemia","Myopathy with lactic acidosis and sideroblastic anemia","Autosomal Recessive","Myopathy with lactic acidosis and sideroblastic anemia:Autosomal Recessive","Myopathy with lactic acidosis and sideroblastic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80324[geneid]~-~608109~-","PUS1"]
["PUS1","Sideroblastic anaemia","Sideroblastic anemia","Autosomal Recessive","Myopathy with lactic acidosis and sideroblastic anemia:Autosomal Recessive","Myopathy with lactic acidosis and sideroblastic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80324[geneid]~-~608109~-","PUS1"]
["PVRL1","Cleft lip / palate","Zlotogora-Ogur syndrome","Autosomal Recessive","Zlotogora-Ogur syndrome:Autosomal Recessive$Orofacial cleft:Autosomal Recessive","Zlotogora-Ogur syndrome:Autosomal Recessive$Orofacial cleft:Autosomal Recessive","HIGH","-~-~600644~-","PVRL1"]
["PVRL1","Cleft lip with or without cleft palate, nonsyndromic","Orofacial cleft","Autosomal Dominant","Zlotogora-Ogur syndrome:Autosomal Recessive$Orofacial cleft:Autosomal Recessive","Zlotogora-Ogur syndrome:Autosomal Recessive$Orofacial cleft:Autosomal Recessive","HIGH","-~-~600644~-","PVRL1"]
["PVRL1","Ectodermal dysplasia, cleft lip / palate","Zlotogora-Ogur syndrome","Autosomal Recessive","Zlotogora-Ogur syndrome:Autosomal Recessive$Orofacial cleft:Autosomal Recessive","Zlotogora-Ogur syndrome:Autosomal Recessive$Orofacial cleft:Autosomal Recessive","HIGH","-~-~600644~-","PVRL1"]
["PVRL4","Ectodermal dysplasia-syndactyly syndrome","Ectodermal dysplasia;Syndactyly","Autosomal Recessive","Ectodermal dysplasia-syndactyly syndrome 1:Autosomal Recessive","Ectodermal dysplasia-syndactyly syndrome 1:Autosomal Recessive","HIGH","-~-~609607~-","PVRL4"]
["PWWP2A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=114825[geneid]~-~-~-","PWWP2A"]
["PXDN","Cataract-microcornea with corneal opacity","Congenital cataract;Microcornea;Corneal opacity;Glaucoma of childhood","Autosomal Recessive",null,null,"HIGH","-~-~605158~-","PXDN"]
["PXMP3","Cerebellar ataxia, Autosomal Recessive","Cerebellar ataxia","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 5:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5828[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~170993~-","PEX2"]
["PXMP3","Peroxisome biogenesis disorder","Peroxisome biogenesis disorder, Complementation group 5","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 5:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5828[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~170993~-","PEX2"]
["PXMP3","Refsum disease, infantile","Infantile Refsum's disease","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 5:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5828[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~170993~-","PEX2"]
["PXMP3","Zellweger syndrome","Zellweger syndrome","Autosomal Recessive","Peroxisome Biogenesis Disorder, Complementation Group 5:Autosomal Recessive$Zellweger syndrome:Autosomal Recessive","Zellweger syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5828[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1448~170993~-","PEX2"]
["PYCR1","Cutis laxa with progeroid features","Cutis Laxa, Autosomal Recessive, Type IIB","Autosomal Recessive","Cutis Laxa, Autosomal Recessive, Type IIB:Autosomal Recessive$Cutis laxa, Autosomal Recessive, type IIIB:Autosomal Recessive$Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5831[geneid]~-~179035~-","PYCR1"]
["PYCR1","Cutis laxa, Autosomal Recessive","Cutis Laxa, Autosomal Recessive, Type IIIB","Autosomal Recessive","Cutis Laxa, Autosomal Recessive, Type IIB:Autosomal Recessive$Cutis laxa, Autosomal Recessive, type IIIB:Autosomal Recessive$Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5831[geneid]~-~179035~-","PYCR1"]
["PYCR1","Cutis laxa, Autosomal Recessive, type 2","Cutis laxa, Autosomal Recessive","Autosomal Recessive","Cutis Laxa, Autosomal Recessive, Type IIB:Autosomal Recessive$Cutis laxa, Autosomal Recessive, type IIIB:Autosomal Recessive$Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5831[geneid]~-~179035~-","PYCR1"]
["PYCR1","De Barsy syndrome","de Barsy syndrome","Autosomal Recessive","Cutis Laxa, Autosomal Recessive, Type IIB:Autosomal Recessive$Cutis laxa, Autosomal Recessive, type IIIB:Autosomal Recessive$Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5831[geneid]~-~179035~-","PYCR1"]
["PYCR1","PYCR1 deficiency","Wrinkly skin syndrome","Autosomal Recessive","Cutis Laxa, Autosomal Recessive, Type IIB:Autosomal Recessive$Cutis laxa, Autosomal Recessive, type IIIB:Autosomal Recessive$Cutis laxa:Autosomal Recessive","Cutis laxa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5831[geneid]~-~179035~-","PYCR1"]
["PYGL","Glycogen storage disease 6","Glycogen storage disease, type VI","Autosomal Recessive","Glycogen storage disease, type VI:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK5941~613741~-","PYGL"]
["PYGM","McArdle disease","Glycogen storage disease type V","Autosomal Recessive","McArdle disease:Autosomal Recessive$Glycogen storage disease, type V:Autosomal Recessive$Glycogen storage disease:Autosomal Recessive","Glycogen storage disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5837[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1344~608455~-","PYGM"]
["QDPR","Dihydropteridine reductase deficiency","Hyperphenylalaninemia","Autosomal Recessive","Hyperphenylalaninemia, BH4-deficient, C:Autosomal Recessive$Dihydropteridine reductase deficiency:Autosomal Recessive$Hyperphenylalaninemia:Autosomal Recessive","Hyperphenylalaninemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5860[geneid]~-~612676~-","QDPR"]
["RAB10","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~612672~-","RAB10"]
["RAB18","Warburg Micro syndrome","Micro syndrome 3","Autosomal Recessive","Warburg Sjo Fledelius syndrome:Autosomal Recessive","Warburg Sjo Fledelius syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22931[geneid]~-~602207~-","RAB18"]
["RAB23","Acrocephalopolysyndactyly, type II","Carpenter's syndrome","Autosomal Recessive","Carpenter's syndrome:Autosomal Recessive","Carpenter's syndrome:Autosomal Recessive","HIGH","-~-~606144~-","RAB23"]
["RAB23","Carpenter syndrome","Carpenter's syndrome","Autosomal Recessive","Carpenter's syndrome:Autosomal Recessive","Carpenter's syndrome:Autosomal Recessive","HIGH","-~-~606144~-","RAB23"]
["RAB27A","Griscelli syndrome","Griscelli syndrome type 2","Autosomal Recessive","Griscelli syndrome, type 2:Autosomal Recessive$Hypopigmentation-immunodeficiency disease:Autosomal Recessive","Hypopigmentation-immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5873[geneid]~-~603868~-","RAB27A"]
["RAB27A","Griscelli syndrome type 2","Griscelli syndrome type 2","Autosomal Recessive","Griscelli syndrome, type 2:Autosomal Recessive$Hypopigmentation-immunodeficiency disease:Autosomal Recessive","Hypopigmentation-immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5873[geneid]~-~603868~-","RAB27A"]
["RAB27A","Haemophagocytic lymphohistiocytosis","Hemophagocytic lymphohistiocytosis","Autosomal Recessive","Griscelli syndrome, type 2:Autosomal Recessive$Hypopigmentation-immunodeficiency disease:Autosomal Recessive","Hypopigmentation-immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5873[geneid]~-~603868~-","RAB27A"]
["RAB28","Cone-rod dystrophy, Autosomal Recessive","Progressive cone-rod dystrophy","Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive","HIGH","-~-~612994~-","RAB28"]
["RAB2A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~179509~-","RAB2A"]
["RAB33B","Dyggve-Melchior-Clausen syndrome","Smith-McCort Dysplasia","Autosomal Recessive","Smith-McCort Dysplasia:Autosomal Recessive","Smith-McCort Dysplasia:Autosomal Recessive","HIGH","-~-~605950~-","RAB33B"]
["RAB33B","Smith-McCort dysplasia","Smith-McCort Dysplasia","Autosomal Recessive","Smith-McCort Dysplasia:Autosomal Recessive","Smith-McCort Dysplasia:Autosomal Recessive","HIGH","-~-~605950~-","RAB33B"]
["RAB34","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610917~-","RAB34"]
["RAB39B","Mental retardation","Mental Retardation","X-linked Recessive","Mental Retardation, X-Linked 72:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116442[geneid]~-~300774~-","RAB39B"]
["RAB39B","Mental retardation, X-linked","Mental Retardation","X-linked Recessive","Mental Retardation, X-Linked 72:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116442[geneid]~-~300774~-","RAB39B"]
["RAB3GAP1","Martsolf syndrome","Martsolf syndrome","Autosomal Recessive","Warburg Sjo Fledelius syndrome:Autosomal Recessive","Warburg Sjo Fledelius syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22930[geneid]~-~602536~-","RAB3GAP1"]
["RAB3GAP1","Warburg micro syndrome 1","Warburg Sjo Fledelius syndrome","Autosomal Recessive","Warburg Sjo Fledelius syndrome:Autosomal Recessive","Warburg Sjo Fledelius syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22930[geneid]~-~602536~-","RAB3GAP1"]
["RAB3GAP2","Martsolf syndrome","Martsolf syndrome","Autosomal Recessive","Martsolf syndrome:Autosomal Recessive$Warburg Sjo Fledelius syndrome:Autosomal Recessive","Martsolf syndrome:Autosomal Recessive$Warburg Sjo Fledelius syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25782[geneid]~-~609275~-","RAB3GAP2"]
["RAB3GAP2","Warburg Micro syndrome","Warburg Sjo Fledelius syndrome","Autosomal Recessive","Martsolf syndrome:Autosomal Recessive$Warburg Sjo Fledelius syndrome:Autosomal Recessive","Martsolf syndrome:Autosomal Recessive$Warburg Sjo Fledelius syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25782[geneid]~-~609275~-","RAB3GAP2"]
["RAB40AL","Martin-Probst syndrome","Martin-Probst Deafness-Mental Retardation Syndrome","X-linked Recessive","Martin-Probst Deafness-Mental Retardation Syndrome:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","-~-~300405~-","RAB40AL"]
["RAB7A","Charcot-Marie-Tooth disease 2b","Charcot-Marie-Tooth disease, Type 2B","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7879[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602298~-","RAB7A"]
["RAB7A","Sensory neuropathy","Sensory neuropathy","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7879[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~602298~-","RAB7A"]
["RAB7L1","Parkinson disease, idiopathic","Parkinson's disease","Risk","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","-~-~603949~-","RAB7L1"]
["RABGGTA","Autism","Autistic Disorder","Risk","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2B:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","-~-~601905~-","RABGGTA"]
["RAC2","Neutrophil immunodeficiency syndrome","Neutrophil Immunodeficiency Syndrome","Autosomal Dominant","Neutrophil Immunodeficiency Syndrome:Autosomal Dominant","Neutrophil Immunodeficiency Syndrome:Autosomal Dominant","HIGH","-~-~602049~-","RAC2"]
["RAD21","Cornelia de Lange-like syndrome","De Lange syndrome","Autosomal Dominant","De Lange syndrome:Autosomal Dominant","De Lange syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5885[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~606462~-","RAD21"]
["RAD21L1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=642636[geneid]~-~-~-","RAD21L1"]
["RAD50","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Risk","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","Breast and/or ovarian cancer","Nijmegen Breakage Syndrome-Like Disorder","Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","Breast cancer","Malignant tumor of breast","Risk","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","Breast cancer","Nijmegen Breakage Syndrome-Like Disorder","Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","Impaired DNA repair","Breast and Ovarian cancer","Risk","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","Impaired DNA repair","Nijmegen Breakage Syndrome-Like Disorder","Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","Ovarian carcinoma","Malignant tumor of ovary","Risk","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","Ovarian carcinoma","Nijmegen Breakage Syndrome-Like Disorder","Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","RAD50 defiency","Malignant tumor of breast;Malignant tumor of ovary","Risk","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD50","RAD50 defiency","Nijmegen Breakage Syndrome-Like Disorder","Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","Nijmegen Breakage Syndrome-Like Disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111[geneid]~-~604040~-","RAD50"]
["RAD51","Breast cancer","Malignant tumor of breast","Risk","Mirror movements:Autosomal Dominant$Malignant tumor of breast:Risk","Mirror movements:Autosomal Dominant$Malignant tumor of breast:Risk","HIGH","-~-~179617~-","RAD51"]
["RAD51","Mirror movements, congenital","Mirror movements","Autosomal Dominant","Mirror movements:Autosomal Dominant$Malignant tumor of breast:Risk","Mirror movements:Autosomal Dominant$Malignant tumor of breast:Risk","HIGH","-~-~179617~-","RAD51"]
["RAD51C","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Risk","Fanconi anemia, complementation group O:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~602774~-","RAD51C"]
["RAD51C","Breast cancer","Malignant tumor of breast","Risk","Fanconi anemia, complementation group O:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~602774~-","RAD51C"]
["RAD51C","Fanconi anaemia-like disorder","Fanconi anemia, complementation group O","Autosomal Recessive","Fanconi anemia, complementation group O:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~602774~-","RAD51C"]
["RAD51C","Ovarian cancer","Malignant tumor of ovary","Risk","Fanconi anemia, complementation group O:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~602774~-","RAD51C"]
["RAD51C","Peritoneal carcinoma","Carcinoma of peritoneum","Risk","Fanconi anemia, complementation group O:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","Fanconi's anemia:Autosomal Recessive$Malignant tumor of breast:Risk$Malignant tumor of ovary:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5889[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~602774~-","RAD51C"]
["RAD51D","Ovarian cancer","Malignant tumor of ovary","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5892[geneid]~-~602954~-","RAD51D"]
["RAD52","Impaired DNA repair","Malignant neoplastic disease","Risk",null,null,"HIGH","-~-~600392~-","RAD52"]
["RAD54L","Breast cancer","Malignant tumor of breast","Autosomal Recessive","Adenocarcinoma of colon:Autosomal Dominant$Non-Hodgkin's lymphoma:Autosomal Dominant","Adenocarcinoma of colon:Autosomal Dominant$Non-Hodgkin's lymphoma:Autosomal Dominant","HIGH","-~-~603615~-","RAD54L"]
["RAF1","Acute myeloid leukaemia","Acute myeloid leukemia, disease","Risk","LEOPARD syndrome, 2:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan Syndrome 5:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5894[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124~164760~-","RAF1"]
["RAF1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","LEOPARD syndrome, 2:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan Syndrome 5:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5894[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124~164760~-","RAF1"]
["RAF1","Cushing syndrome","Noonan Syndrome 5","Autosomal Dominant","LEOPARD syndrome, 2:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan Syndrome 5:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5894[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124~164760~-","RAF1"]
["RAF1","Noonan syndrome","Noonan Syndrome 5","Autosomal Dominant","LEOPARD syndrome, 2:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan Syndrome 5:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5894[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124~164760~-","RAF1"]
["RAF1","Noonan syndrome, atypical","Noonan Syndrome 5","Autosomal Dominant","LEOPARD syndrome, 2:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan Syndrome 5:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5894[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124~164760~-","RAF1"]
["RAF1","Perinatal problems & hypertrophic cardiomyopathy","LEOPARD syndrome, 2","Autosomal Dominant","LEOPARD syndrome, 2:Autosomal Dominant$Multiple lentigines syndrome:Autosomal Dominant$Noonan Syndrome 5:Autosomal Dominant$Noonan syndrome:Autosomal Dominant","Multiple lentigines syndrome:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5894[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1383$http://www.ncbi.nlm.nih.gov/books/NBK1124~164760~-","RAF1"]
["RAG1","Atypical SCID/Omenn syndrome","Severe combined immunodeficiency, atypical;Histiocytic medullary reticulosis","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","CD4+ T lymphopenia","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","CMV infection","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","Destructive midline granulomatous disease","Combined Cellular And Humoral Immune Defects With Granulomas","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","Immunodeficiency, severe combined, atypical","Severe combined immunodeficiency, atypical","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","Immunodeficiency, severe combined, B cell -ve","Severe combined immunodeficiency disease","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","Immunodeficiency, severe combined, T & B cell -ve","Severe combined immunodeficiency disease","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","Omenn syndrom with aniridia","Histiocytic medullary reticulosis;Congenital aniridia","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG1","Omenn syndrome","Histiocytic medullary reticulosis","Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:Autosomal Recessive$Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5896[geneid]~-~179615~-","RAG1"]
["RAG2","Atypical SCID/Omenn syndrome","Severe combined immunodeficiency, atypical;Histiocytic medullary reticulosis","Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5897[geneid]~-~179616~-","RAG2"]
["RAG2","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5897[geneid]~-~179616~-","RAG2"]
["RAG2","Immunodeficiency, severe combined, B cell -ve","Severe combined immunodeficiency disease","Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5897[geneid]~-~179616~-","RAG2"]
["RAG2","Immunodeficiency, severe combined, T & B cell -ve","Severe combined immunodeficiency disease","Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5897[geneid]~-~179616~-","RAG2"]
["RAG2","Omenn syndrome","Histiocytic medullary reticulosis","Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","Combined Cellular And Humoral Immune Defects With Granulomas:Autosomal Recessive$Histiocytic medullary reticulosis:Autosomal Recessive$Severe combined immunodeficiency, B cell-negative:Autosomal Recessive$Severe combined immunodeficiency disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5897[geneid]~-~179616~-","RAG2"]
["RAI1","Colorectal cancer","Colorectal Cancer","Risk","Smith-Magenis syndrome:Autosomal Dominant","Smith-Magenis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10743[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1310~607642~-","RAI1"]
["RAI1","Smith-Magenis syndrome","Smith-Magenis syndrome","Autosomal Dominant","Smith-Magenis syndrome:Autosomal Dominant","Smith-Magenis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10743[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1310~607642~-","RAI1"]
["RALGDS","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~601619~-","RALGDS"]
["RANBP2","Encephalopathy, acute necrotising","Acute necrotizing encephalopathy","Autosomal Dominant","Acute necrotizing encephalopathy:Risk","Acute necrotizing encephalopathy:Risk","HIGH","-~-~601181~-","RANBP2"]
["RANBP6","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","RANBP6"]
["RANGRF","Altered function","Conduction disorder of the heart","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29098[geneid]~-~607954~-","RANGRF"]
["RANGRF","Brugada syndrome","Brugada syndrome","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29098[geneid]~-~607954~-","RANGRF"]
["RAPGEF1","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~600303~-","RAPGEF1"]
["RAPGEF4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606058~-","RAPGEF4"]
["RAPSN","Acetylcholine receptor deficiency","Congenital end-plate acetylcholine receptor deficiency","Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic syndrome, congenital, type Id:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~601592~-","RAPSN"]
["RAPSN","Congenital myasthenic syndrome","Familial infantile myasthenia","Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic syndrome, congenital, type Id:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~601592~-","RAPSN"]
["RAPSN","Fetal akinesia deformation sequence disorder","Pena-Shokeir syndrome type I","Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic syndrome, congenital, type Id:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~601592~-","RAPSN"]
["RAPSN","Limb girdle myasthenia","Pseudomyopathic myasthenia","Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic syndrome, congenital, type Id:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","Pena-Shokeir syndrome type I:Autosomal Recessive$Myasthenic Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5913[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1168~601592~-","RAPSN"]
["RARS2","Pontocerebellar hypoplasia","Congenital pontocerebellar hypoplasia","Autosomal Recessive","Pontocerebellar Hypoplasia Type 6:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57038[geneid]~-~611524~-","RARS2"]
["RASA1","Arteriovenous fistula","Arteriovenous fistula","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5921[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52764~139150~-","RASA1"]
["RASA1","Arteriovenous malformation","Congenital arteriovenous malformation","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5921[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52764~139150~-","RASA1"]
["RASA1","Capillary malformation-arteriovenous malformation","Capillary Malformation-Arteriovenous Malformation","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5921[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52764~139150~-","RASA1"]
["RASA1","Capillary malformations","Capillary malformation","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5921[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52764~139150~-","RASA1"]
["RASA1","Capillary malformations, multifocal","Capillary malformation","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5921[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52764~139150~14639530","RASA1"]
["RASA1","Parkes-Weber syndrome with lymphatic abnormalities","Parkes Weber syndrome","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5921[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52764~139150~14639531","RASA1"]
["RASA1","Sturge-Weber syndrome","Parkes Weber syndrome","Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","Basal cell carcinoma:Autosomal Dominant$Capillary Malformation-Arteriovenous Malformation:Autosomal Dominant$Parkes Weber syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5921[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK52764~139150~14639529","RASA1"]
["RASGRP2","Leukocyte adhesion deficiency 3","Leukocyte adhesion deficiency","Autosomal Recessive",null,null,"HIGH","-~-~605577~-","RASGRP2"]
["RASGRP2","Platelet disorder","Platelet disorder","Autosomal Recessive",null,null,"HIGH","-~-~605577~-","RASGRP2"]
["RAX","Anophthalmia","Anophthalmos","Autosomal Recessive","Microphthalmia, Isolated 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~601881~-","RAX"]
["RAX","Anophthalmia and sclerocornea","Anophthalmos;Congenital sclerocornea","Autosomal Recessive","Microphthalmia, Isolated 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~601881~-","RAX"]
["RAX","Coloboma","Coloboma of eye","Autosomal Dominant","Microphthalmia, Isolated 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~601881~-","RAX"]
["RAX","Microphthalmia","Microphthalmia, Isolated 3","Autosomal Recessive","Microphthalmia, Isolated 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~601881~-","RAX"]
["RAX2","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Dominant","Cone-Rod Dystrophy 11:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant$Macular Degeneration, Age-Related, 6:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","HIGH","-~-~610362~-","RAX2"]
["RAX2","Macular degeneration, age related","Age-related macular degeneration","Autosomal Dominant","Cone-Rod Dystrophy 11:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant$Macular Degeneration, Age-Related, 6:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Age-related macular degeneration:Autosomal Dominant","HIGH","-~-~610362~-","RAX2"]
["RB1","Retinoblastoma","Retinoblastoma","Autosomal Dominant","Malignant neoplasm of urinary bladder:Autosomal Dominant$Osteosarcoma:Autosomal Recessive$Retinoblastoma:Autosomal Dominant$Trilateral Retinoblastoma:Autosomal Dominant$Small cell carcinoma of lung:Autosomal Dominant","Malignant neoplasm of urinary bladder:Autosomal Dominant$Osteosarcoma:Autosomal Recessive$Retinoblastoma:Autosomal Dominant$Trilateral Retinoblastoma:Autosomal Dominant$Small cell carcinoma of lung:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5925[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1452~614041~-","RB1"]
["RB1CC1","Schizophrenia","Schizophrenia","Risk","Malignant neoplasm of breast:Autosomal Dominant","Malignant neoplasm of breast:Autosomal Dominant","HIGH","-~-~606837~-","RB1CC1"]
["RBBP8","Jawad syndrome","Microcephaly with Mental Retardation and Digital Anomalies","Autosomal Recessive","Microcephaly with Mental Retardation and Digital Anomalies:Autosomal Recessive$Pancreatic carcinoma:Autosomal Dominant$Seckel syndrome 2:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Microcephaly with Mental Retardation and Digital Anomalies:Autosomal Recessive$Pancreatic carcinoma:Autosomal Dominant$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5932[geneid]~-~604124~-","RBBP8"]
["RBBP8","Seckel syndrome","Seckel syndrome 2","Autosomal Recessive","Microcephaly with Mental Retardation and Digital Anomalies:Autosomal Recessive$Pancreatic carcinoma:Autosomal Dominant$Seckel syndrome 2:Autosomal Recessive$Seckel syndrome:Autosomal Recessive","Microcephaly with Mental Retardation and Digital Anomalies:Autosomal Recessive$Pancreatic carcinoma:Autosomal Dominant$Seckel syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5932[geneid]~-~604124~-","RBBP8"]
["RBCK1","Immunodeficiency, autoinflammation & amylopectinosis","Immunodeficiency;Autoinflammation;Glycogen storage disease, type IV","Autosomal Recessive",null,null,"HIGH","-~-~610924~-","RBCK1"]
["RBCK1","Muscular weakness & cardiomyopathy","Cardiomyopathy","Autosomal Recessive",null,null,"HIGH","-~-~610924~-","RBCK1"]
["RBM10","TARP syndrome","TARP syndrome","X-linked Recessive","TARP syndrome:X-linked Recessive","TARP syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8241[geneid]~-~300080~-","RBM10"]
["RBM20","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1DD;Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1DD:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=282996[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~613171~-","RBM20"]
["RBM28","Alopecia, neurological defects and endocrinopathy syndrome","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome","Autosomal Recessive","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:Autosomal Recessive","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:Autosomal Recessive","HIGH","-~-~612074~-","RBM28"]
["RBM43","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","RBM43"]
["RBM8A","Thrombocytopaenia-absent radius syndrome","Radial aplasia-thrombocytopenia syndrome","Autosomal Recessive","Radial aplasia-thrombocytopenia syndrome:Autosomal Recessive","Radial aplasia-thrombocytopenia syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK23758~605313~-","RBM8A"]
["RBMXL2","Impaired spermatogenesis","Impaired spermatogenesis","Autosomal Dominant",null,null,"HIGH","-~-~605444~-","RBMXL2"]
["RBP3","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","-~-~189971~-","E2F1"]
["RBP4","Retinal dystrophy & developmental abnormalities","Retinal dystrophy, iris coloboma, and comedogenic acne syndrome","Autosomal Recessive","Retinal dystrophy, iris coloboma, and comedogenic acne syndrome:Autosomal Dominant","Retinal dystrophy, iris coloboma, and comedogenic acne syndrome:Autosomal Dominant","HIGH","-~-~180250~-","RBP4"]
["RBP4","Retinol deficiency","Retinol Deficiency","Autosomal Recessive","Retinal dystrophy, iris coloboma, and comedogenic acne syndrome:Autosomal Dominant","Retinal dystrophy, iris coloboma, and comedogenic acne syndrome:Autosomal Dominant","HIGH","-~-~180250~-","RBP4"]
["RBPJ","Adams-Oliver syndrome","Adams-Oliver syndrome","Autosomal Dominant","Adams-Oliver syndrome:Autosomal Dominant","Adams-Oliver syndrome:Autosomal Dominant","HIGH","-~-~147183~-","RBPJ"]
["RD3","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Leber Congenital Amaurosis 12:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=343035[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~180040~-","RD3"]
["RD3","Leber congenital amaurosis / retinal dystrophy, early-onset severe","Leber's amaurosis;Retinal Dystrophy, Early Onset Severe","Autosomal Recessive","Leber Congenital Amaurosis 12:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=343035[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~180040~-","RD3"]
["RD3","Retinal degeneration","Degeneration of retina","Autosomal Recessive","Leber Congenital Amaurosis 12:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=343035[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~180040~-","RD3"]
["RDH12","Cone dystrophy","Cone dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 13:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145226[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~608830~-","RDH12"]
["RDH12","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Leber Congenital Amaurosis 13:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145226[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~608830~-","RDH12"]
["RDH12","Retinal dystrophy","Retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 13:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145226[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~608830~-","RDH12"]
["RDH12","Retinal pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Leber Congenital Amaurosis 13:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145226[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~608830~-","RDH12"]
["RDH12","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Leber Congenital Amaurosis 13:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145226[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~608830~-","RDH12"]
["RDH12","Retinitis pigmentosa, juvenile-onset","Retinitis pigmentosa","Autosomal Dominant","Leber Congenital Amaurosis 13:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145226[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~608830~-","RDH12"]
["RDH5","Fundus albipunctatus","Pigmentary retinal dystrophy","Autosomal Recessive","Pigmentary retinal dystrophy:Autosomal Recessive","Pigmentary retinal dystrophy:Autosomal Recessive","HIGH","-~-~601617~-","RDH5"]
["RDX","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive, 24:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5962[geneid]~-~179410~-","RDX"]
["REEP1","Neuropathy, hereditary sensory, type V","Neuronopathy, Distal Hereditary Motor, Type V","Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Spastic Paraplegia 31, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65055[geneid]~-~609139~-","REEP1"]
["REEP1","Spastic paraplegia","Spastic paraplegia","Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Spastic Paraplegia 31, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65055[geneid]~-~609139~-","REEP1"]
["REEP1","Spastic paraplegia 31","Spastic Paraplegia 31, Autosomal Dominant","Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Spastic Paraplegia 31, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Neuronopathy, Distal Hereditary Motor, Type V:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65055[geneid]~-~609139~-","REEP1"]
["RELN","Autism","Autistic Disorder","Risk","Lissencephaly:Autosomal Recessive$Norman Roberts lissencephaly syndrome:Autosomal Recessive","Lissencephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5649[geneid]~-~600514~-","RELN"]
["RELN","Lissencephaly with cerebellar hypoplasia","Norman Roberts lissencephaly syndrome","Autosomal Recessive","Lissencephaly:Autosomal Recessive$Norman Roberts lissencephaly syndrome:Autosomal Recessive","Lissencephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5649[geneid]~-~600514~-","RELN"]
["REN","Anaemia, hyperuricaemia and chronic kidney disease","Hyperuricemic Nephropathy, Familial Juvenile 2","Autosomal Dominant","Hyperuricemic Nephropathy, Familial Juvenile 2:Autosomal Dominant$Hyperuricemic nephropathy:Autosomal Dominant$Renal dysplasia:Autosomal Recessive","Hyperuricemic nephropathy:Autosomal Dominant$Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=147040[geneid]~-~609848~-","KCTD11"]
["REN","Anaemia, hypouricosuric hyperuricaemia and kidney failure","Hyperuricemic Nephropathy, Familial Juvenile 2","Autosomal Dominant","Hyperuricemic Nephropathy, Familial Juvenile 2:Autosomal Dominant$Hyperuricemic nephropathy:Autosomal Dominant$Renal dysplasia:Autosomal Recessive","Hyperuricemic nephropathy:Autosomal Dominant$Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=147040[geneid]~-~609848~-","KCTD11"]
["REN","Increased transcription","NULL","No association with disease PMID 12473863","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5972[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK53700~179820~-","REN"]
["REN","Prorenin elevation","NULL","No association with disease PMID 7982942","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5972[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK53700~179820~-","REN"]
["REN","Renal tubular dysgenesis","Renal dysplasia","Autosomal Recessive","Hyperuricemic Nephropathy, Familial Juvenile 2:Autosomal Dominant$Hyperuricemic nephropathy:Autosomal Dominant$Renal dysplasia:Autosomal Recessive","Hyperuricemic nephropathy:Autosomal Dominant$Renal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=147040[geneid]~-~609848~-","KCTD11"]
["REST","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600571~-","REST"]
["RET","Aganglionosis, total colonic","Hirschsprung's disease","Autosomal Recessive","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Autonomic control, congenital failure of","Congenital central hypoventilation","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Central hypoventilation syndrome","Central alveolar hypoventilation syndrome","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Elevated basal serum calcitonin","NULL","No disease associated PMID 15320968","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257~164761~-","RET"]
["RET","Hirschsprung disease","Hirschsprung's disease","Autosomal Recessive","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Multicystic dysplastic kidney","NULL","No significant association PMID 21490379","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257~164761~-","RET"]
["RET","Multifollicular thyroid carcinoma","Medullary thyroid carcinoma","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Multiple endocrine neoplasia 2","Multiple endocrine neoplasia, type 2","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Multiple endocrine neoplasia 2A","Multiple endocrine neoplasia, type 2","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Multiple endocrine neoplasia 2B","Multiple endocrine neoplasia, type 2","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Phaeochromocytoma & medullary thyroid carcinoma","Pheochromocytoma;Medullary thyroid carcinoma","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Phaeochromocytoma and paraganglioma","Pheochromocytoma;Paraganglioma","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Renal agenesis","Renal agenesis","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Renal agenesis / hypodysplasia","Renal agenesis;Renal Hypodysplasia, Nonsyndromic, 1","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Thyroid cancer","Medullary thyroid carcinoma","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Thyroid carcinoma","Medullary thyroid carcinoma","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Thyroid carcinoma, medullary","Medullary thyroid carcinoma","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RET","Urinary tract malformation","Congenital anomaly of the urinary tract proper","Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Medullary thyroid carcinoma:Autosomal Dominant$Multiple endocrine neoplasia, type 2:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","Congenital central hypoventilation:Autosomal Dominant$Multiple endocrine neoplasia:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Renal agenesis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5979[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1257$http://www.ncbi.nlm.nih.gov/books/NBK1439~164761~-","RET"]
["RETN","Obesity & insulin resistance","Obesity;Insulin resistance in diabetes","Autosomal Dominant","Insulin resistance:Risk","Insulin resistance:Risk","HIGH","-~-~605565~-","RETN"]
["REV3L","Lung cancer, reduced risk","Small cell carcinoma of lung","Decreased Risk",null,null,"HIGH","-~-~602776~-","REV3L"]
["RFT1","Congenital disorder of glycosylation","Congenital Disorder Of Glycosylation, Type In","Autosomal Recessive","Congenital Disorder Of Glycosylation, Type In:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91869[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~611908~-","RFT1"]
["RFT1","N-linked glycosylation disorder","Congenital disorder of glycosylation","Autosomal Recessive","Congenital Disorder Of Glycosylation, Type In:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91869[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~611908~-","RFT1"]
["RFX2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~142765~-","RFX2"]
["RFX5","Bare lymphocyte syndrome","SCID due to absent class II HLA antigens","Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Dominant$Bare Lymphocyte Syndrome, Type II, Complementation Group C:Autosomal Dominant$Bare Lymphocyte Syndrome, Type II, Complementation Group E:Autosomal Dominant","SCID due to absent class II HLA antigens:Autosomal Dominant","HIGH","-~-~601863~-","RFX5"]
["RFX6","Diabetes, neonatal, with intestinal atresia","Martinez-Frias Syndrome","Autosomal Recessive","Martinez-Frias Syndrome:Autosomal Recessive","Martinez-Frias Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=222546[geneid]~-~612659~-","RFX6"]
["RFX8","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=731220[geneid]~-~-~-","RFX8"]
["RFXANK","Bare lymphocyte syndrome, complementation group B","SCID due to absent class II HLA antigens","Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Dominant$Bare Lymphocyte Syndrome, Type II, Complementation Group B:Autosomal Dominant","SCID due to absent class II HLA antigens:Autosomal Dominant","HIGH","-~-~603200~-","RFXANK"]
["RFXANK","MHC class II deficiency","SCID due to absent class II HLA antigens","Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Dominant$Bare Lymphocyte Syndrome, Type II, Complementation Group B:Autosomal Dominant","SCID due to absent class II HLA antigens:Autosomal Dominant","HIGH","-~-~603200~-","RFXANK"]
["RFXAP","Bare lymphocyte syndrome","SCID due to absent class II HLA antigens","Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Dominant$Bare Lymphocyte Syndrome, Type II, Complementation Group D:Autosomal Dominant","SCID due to absent class II HLA antigens:Autosomal Dominant","HIGH","-~-~601861~-","RFXAP"]
["RFXAP","Bare lymphocyte syndrome, complementation group D","SCID due to absent class II HLA antigens","Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Dominant$Bare Lymphocyte Syndrome, Type II, Complementation Group D:Autosomal Dominant","SCID due to absent class II HLA antigens:Autosomal Dominant","HIGH","-~-~601861~-","RFXAP"]
["RGMA","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607362~-","RGMA"]
["RGR","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5995[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~600342~-","RGR"]
["RGR","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5995[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~600342~-","RGR"]
["RGS2","Hypertension","Essential Hypertension","Autosomal Dominant",null,null,"HIGH","-~-~600861~-","RGS2"]
["RGS2","Platelet Gs hypofunction","Platelet function","Modifier",null,null,"HIGH","-~-~600861~-","RGS2"]
["RGS6","Increased protein expression","Malignant tumor of urinary bladder","Decreased Risk","Malignant tumor of urinary bladder:Risk","Malignant tumor of urinary bladder:Risk","HIGH","-~-~603894~-","RGS6"]
["RGS7","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~602517~-","RGS7"]
["RGS9","Prolonged electroretinal response suppression","Prolonged Electroretinal Response Suppression","Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","HIGH","-~-~604067~-","RGS9"]
["RGS9","Retinal dysfunction","Prolonged Electroretinal Response Suppression","Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","HIGH","-~-~604067~-","RGS9"]
["RGS9BP","Bradyopsia","Prolonged Electroretinal Response Suppression","Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","HIGH","-~-~607814~-","RGS9BP"]
["RGS9BP","Prolonged electroretinal response suppression","Prolonged Electroretinal Response Suppression","Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","HIGH","-~-~607814~-","RGS9BP"]
["RGS9BP","Retinal dysfunction","Prolonged Electroretinal Response Suppression","Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","Prolonged Electroretinal Response Suppression:Autosomal Recessive","HIGH","-~-~607814~-","RGS9BP"]
["RHAG","Rh-deficiency syndrome","Rh deficiency syndrome","Autosomal Recessive","Hemloytic anemia:Autosomal Recessive","Hemloytic anemia:Autosomal Recessive","HIGH","-~-~180297~-","RHAG"]
["RHAG","Rh-mod syndrome","Rh(mod) blood group phenotype","Autosomal Recessive","Hemloytic anemia:Autosomal Recessive","Hemloytic anemia:Autosomal Recessive","HIGH","-~-~180297~-","RHAG"]
["RHAG","Rh-null syndrome","Hemloytic anemia","Autosomal Recessive","Hemloytic anemia:Autosomal Recessive","Hemloytic anemia:Autosomal Recessive","HIGH","-~-~180297~-","RHAG"]
["RHAG","Stomatocytosis, overhydrated","Stomatocytosis I","Autosomal Dominant","Hemloytic anemia:Autosomal Recessive","Hemloytic anemia:Autosomal Recessive","HIGH","-~-~180297~-","RHAG"]
["RHBDF2","Tylosis oesophageal cancer","Keratosis palmoplantaris with esophageal cancer","Autosomal Dominant","Keratosis palmoplantaris with esophageal cancer:Autosomal Dominant","Keratosis palmoplantaris with esophageal cancer:Autosomal Dominant","HIGH","-~-~614404~-","RHBDF2"]
["RHCE","Altered Rh antigen expression","Blood group typing, RH phenotyping","Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","HIGH","-~-~111700~-","RHCE"]
["RHCE","Jal+ antigen","Blood group antigen JAL","Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","HIGH","-~-~111700~-","RHCE"]
["RHCE","Rh-deficiency syndrome","Rh deficiency syndrome","Autosomal Recessive","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","HIGH","-~-~111700~-","RHCE"]
["RHCE","Rhesus blood group variant","Blood group typing, RH phenotyping","Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","HIGH","-~-~111700~-","RHCE"]
["RHCE","Rhesus negative blood group","Blood group typing, RH phenotyping","Autosomal Recessive","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","Rh-Null Disease, Amorph Type:Autosomal Recessive$Antigen in Rh blood group system:Risk","HIGH","-~-~111700~-","RHCE"]
["RHD","Reduced expression ","Rh blood group phenotype","Modifier","Antigen in Rh blood group system:Modifier","Antigen in Rh blood group system:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6007[geneid]~-~111680~-","RHD"]
["RHD","RhD blood group variant ","Blood group typing, RH phenotyping","Risk","Antigen in Rh blood group system:Modifier","Antigen in Rh blood group system:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6007[geneid]~-~111680~-","RHD"]
["RHD","Rhesus negative blood group","Blood group typing, RH phenotyping","Autosomal Recessive","Antigen in Rh blood group system:Modifier","Antigen in Rh blood group system:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6007[geneid]~-~111680~-","RHD"]
["RHO","Nightblindness, congenital stationary","Congenital stationary night blindness","Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Night Blindness, Congenital Stationary, Autosomal Dominant 1:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180380~-","RHO"]
["RHO","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Night Blindness, Congenital Stationary, Autosomal Dominant 1:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180380~-","RHO"]
["RHO","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Congenital stationary night blindness:Autosomal Dominant$Night Blindness, Congenital Stationary, Autosomal Dominant 1:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180380~-","RHO"]
["RHO","Retinitis pigmentosa, Autosomal Dominant","Retinitis pigmentosa","Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Night Blindness, Congenital Stationary, Autosomal Dominant 1:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","Congenital stationary night blindness:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive$Retinitis punctata albescens:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180380~-","RHO"]
["RHOH","RHOH deficiency","Epidermodysplasia verruciformis","Autosomal Recessive",null,null,"HIGH","-~-~602037~-","RHOH"]
["RIMS1","Autism","Autistic Disorder","Risk","Cone-Rod Dystrophy 7:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant","HIGH","-~-~606629~-","RIMS1"]
["RIMS1","Cone-rod dystrophy","Cone-Rod Dystrophy 7;Progressive cone-rod dystrophy","Autosomal Dominant","Cone-Rod Dystrophy 7:Autosomal Dominant$Progressive cone-rod dystrophy:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant","HIGH","-~-~606629~-","RIMS1"]
["RIMS3","Autism","Autistic Disorder","Autosomal Dominant","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611600~-","RIMS3"]
["RIN2","Macrocephaly, alopecia, cutis laxa & scoliosis","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis","Autosomal Recessive","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis:Autosomal Recessive$Disorder of connective tissue:Autosomal Recessive","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis:Autosomal Recessive$Disorder of connective tissue:Autosomal Recessive","HIGH","-~-~610222~-","RIN2"]
["RIN2","RIN2 syndrome","Disorder of connective tissue","Autosomal Recessive","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis:Autosomal Recessive$Disorder of connective tissue:Autosomal Recessive","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis:Autosomal Recessive$Disorder of connective tissue:Autosomal Recessive","HIGH","-~-~610222~-","RIN2"]
["RIPK2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603455~-","RIPK2"]
["RIPK4","Autism spectrum disorder","Autistic Disorder","Risk","Popliteal Pterygium Syndrome, Lethal Type:Autosomal Recessive","Popliteal Pterygium Syndrome, Lethal Type:Autosomal Recessive","HIGH","-~-~605706~-","RIPK4"]
["RIPK4","Bartsocas-Papas syndrome","Popliteal Pterygium Syndrome, Lethal Type","Autosomal Recessive","Popliteal Pterygium Syndrome, Lethal Type:Autosomal Recessive","Popliteal Pterygium Syndrome, Lethal Type:Autosomal Recessive","HIGH","-~-~605706~-","RIPK4"]
["RIT1","Noonan syndrome","Noonan's syndrome","Autosomal Dominant","Noonan's syndrome:Autosomal Dominant","Noonan's syndrome:Autosomal Dominant","HIGH","-~-~609591~-","RIT1"]
["RLBP1","Bothnia dystrophy","Bothnia Retinal Dystrophy","Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6017[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180090~-","RLBP1"]
["RLBP1","Cone-rod dystrophy, Newfoundland type","Newfoundland Rod-Cone Dystrophy","Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6017[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180090~-","RLBP1"]
["RLBP1","Fundus albipunctatus","Pigmentary retinal dystrophy","Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6017[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180090~-","RLBP1"]
["RLBP1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6017[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180090~-","RLBP1"]
["RLBP1","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa","Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6017[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180090~-","RLBP1"]
["RLBP1","Retinitis punctata albescens","Retinitis Punctata Albescens","Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","Bothnia Retinal Dystrophy:Autosomal Recessive$Pigmentary retinal dystrophy:Autosomal Recessive$Newfoundland Rod-Cone Dystrophy:Autosomal Recessive$Retinitis punctata albescens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6017[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180090~-","RLBP1"]
["RMND1","Encephaloneuromyopathy, infantile","Combined oxidative phosphorylation deficiency 11","Autosomal Recessive","Combined oxidative phosphorylation deficiency 11:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55005[geneid]~-~614917~-","RMND1"]
["RMND1","Encephalopathy","Encephalopathy","Autosomal Recessive","Combined oxidative phosphorylation deficiency 11:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55005[geneid]~-~614917~-","RMND1"]
["RMRP","Anauxetic dysplasia","Anauxetic dysplasia","Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, McKusick type:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84550~157660~-","RMRP"]
["RMRP","Cartilage-Hair hypoplasia","Metaphyseal chondrodysplasia, McKusick type","Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, McKusick type:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84550~157660~-","RMRP"]
["RMRP","Cartilage-hair hypoplasia, Omenn syndrome & CD8 lymphopenia","Metaphyseal chondrodysplasia, McKusick type;Histiocytic medullary reticulosis;Lymphocytopenia","Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, McKusick type:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84550~157660~-","RMRP"]
["RMRP","Metaphyseal dysplasia without hypotrichosis","Metaphyseal Dysplasia without Hypotrichosis","Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, McKusick type:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84550~157660~-","RMRP"]
["RMRP","Omenn syndrome","Histiocytic medullary reticulosis","Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia, McKusick type:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","Anauxetic dysplasia:Autosomal Recessive$Metaphyseal chondrodysplasia:Autosomal Recessive$Metaphyseal Dysplasia without Hypotrichosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84550~157660~-","RMRP"]
["RNASE3","Lower cellular ECP content","Allergic asthma;Non-allergic asthma","Risk","Asthma:Risk","Ashtma:Risk","HIGH","-~-~131398~-","RNASE3"]
["RNASEH2A","Aicardi-Goutieres syndrome","Aicardi-Goutieres Syndrome 4;Aicardi Goutieres syndrome","Autosomal Recessive","Aicardi-Goutieres Syndrome 4:Autosomal Recessive$Aicardi Goutieres syndrome:Autosomal Recessive","Aicardi Goutieres syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606034~-","RNASEH2A"]
["RNASEH2B","Aicardi-Goutieres syndrome","Aicardi-Goutieres Syndrome 2;Aicardi Goutieres syndrome","Autosomal Recessive","Aicardi-Goutieres Syndrome 2:Autosomal Recessive$Aicardi Goutieres syndrome:Autosomal Recessive","Aicardi Goutieres syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79621[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~610326~-","RNASEH2B"]
["RNASEH2C","Aicardi-Goutieres syndrome","Aicardi-Goutieres Syndrome 3;Aicardi Goutieres syndrome","Autosomal Recessive","Aicardi-Goutieres Syndrome 3:Autosomal Recessive$Aicardi Goutieres syndrome:Autosomal Recessive","Aicardi Goutieres syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84153[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~610330~-","RNASEH2C"]
["RNASEL","Prostate cancer","Malignant tumor of prostate","Autosomal Dominant","Malignant tumor of prostate:Autosomal Dominant","Malignant tumor of prostate:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6041[geneid]~-~180435~-","RNASEL"]
["RNASEL","Prostate cancer","Prostate cancer, familial","Autosomal Dominant","Malignant tumor of prostate:Autosomal Dominant","Malignant tumor of prostate:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6041[geneid]~-~180435~-","RNASEL"]
["RNASEL","Ribonuclease L deficiency","Prostate cancer, familial","Autosomal Dominant","Malignant tumor of prostate:Autosomal Dominant","Malignant tumor of prostate:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6041[geneid]~-~180435~-","RNASEL"]
["RNASET2","Cystic leukoencephalopathy","Leukoencephalopathy, Cystic, Without Megalencephaly","Autosomal Recessive","Leukoencephalopathy, Cystic, Without Megalencephaly:Autosomal Recessive","Leukoencephalopathy, Cystic, Without Megalencephaly:Autosomal Recessive","HIGH","-~-~612944~-","RNASET2"]
["RNF128","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300439~-","RNF128"]
["RNF135","Overgrowth, dysmorphism and learning disabilities","Macrocephaly;Exceptionally large baby;Congenital anomaly of face","Autosomal Dominant","Macrocephaly, macrosomia, facial dysmorphism syndrome:Autosomal Dominant","Macrocephaly, macrosomia, facial dysmorphism syndrome:Autosomal Dominant","HIGH","-~-~611358~-","RNF135"]
["RNF135","Overgrowth, dysmorphism and learning disability","Macrocephaly;Exceptionally large baby;Congenital anomaly of face","Autosomal Dominant","Macrocephaly, macrosomia, facial dysmorphism syndrome:Autosomal Dominant","Macrocephaly, macrosomia, facial dysmorphism syndrome:Autosomal Dominant","HIGH","-~-~611358~-","RNF135"]
["RNF168","RIDDLE syndrome","Riddle Syndrome","Autosomal Recessive","RIDDLE syndrome:Autosomal Recessive","RIDDLE syndrome:Autosomal Recessive","HIGH","-~-~612688~-","RNF168"]
["RNF168","RNF168 deficiency","Ataxia;Telangiectasis;Immunodeficiency disorder;Microcephalus","Autosomal Recessive","RIDDLE syndrome:Autosomal Recessive","RIDDLE syndrome:Autosomal Recessive","HIGH","-~-~612688~-","RNF168"]
["RNF170","Sensory ataxia, Autosomal Dominant","Sensory ataxia","Autosomal Dominant","Ataxia, Sensory, Autosomal Dominant:Autosomal Dominant$Sensory ataxia:Autosomal Dominant","Sensory ataxia:Autosomal Dominant","HIGH","-~-~614649~-","RNF170"]
["RNF20","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~607699~-","RNF20"]
["RNF213","Moyamoya disease","Moyamoya disease","Autosomal Dominant","Moyamoya disease 2:Autosomal Dominant$Moyamoya disease:Autosomal Dominant","Moyamoya disease:Autosomal Dominant","HIGH","-~-~613768~-","RNF213"]
["RNF216","Hypogonadotropic hypogonadism, ataxia & dementia","Cerebellar Ataxia and Hypogonadotropic Hypogonadism","Autosomal Recessive","Cerebellar Ataxia and Hypogonadotropic Hypogonadism:Autosomal Recessive","Cerebellar Ataxia and Hypogonadotropic Hypogonadism:Autosomal Recessive","HIGH","-~-~609948~-","RNF216"]
["RNF32","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610241~-","RNF32"]
["RNF38","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612488~-","RNF38"]
["RNLS","Paediatric cataract","Juvenile cataract","Risk",null,null,"HIGH","-~-~609360~-","RNLS"]
["RNU4ATAC","Microcephalic primordial dwarfism, type I","Osteodysplastic primordial dwarfism, type 1","Autosomal Recessive","Osteodysplastic primordial dwarfism, type 1:Autosomal Recessive$Osteodysplastic primordial dwarfism:Autosomal Recessive","Osteodysplastic primordial dwarfism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=100151683[geneid]~-~601428~-","RNU4ATAC"]
["ROBLD3","Primary immunodeficiency disease","Primary immune deficiency disorder","Autosomal Recessive","Immunodeficiency due to Defect in MAPBP-Interacting Protein:Autosomal Recessive$Primary immune deficiency disorder:Autosomal Recessive","Primary immune deficiency disorder:Autosomal Recessive","HIGH","-~-~610389~-","LAMTOR2"]
["ROBO2","Urinary tract anomalies","Congenital anomaly of the urinary tract proper","Autosomal Dominant","Vesicoureteral Reflux 2:Autosomal Dominant$Vesicoureteric reflux:Autosomal Dominant","Vesicoureteric reflux:Autosomal Dominant","HIGH","-~-~602431~-","ROBO2"]
["ROBO2","Vesicoureteral reflux","Vesicoureteral Reflux 2","Autosomal Dominant","Vesicoureteral Reflux 2:Autosomal Dominant$Vesicoureteric reflux:Autosomal Dominant","Vesicoureteric reflux:Autosomal Dominant","HIGH","-~-~602431~-","ROBO2"]
["ROBO3","Gaze palsy, horizontal, with progressive scoliosis","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis","Autosomal Recessive","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis:Autosomal Recessive","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64221[geneid]~-~608630~-","ROBO3"]
["ROBO3","Horizontal gaze palsy with progressive scoliosis","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis","Autosomal Recessive","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis:Autosomal Recessive","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64221[geneid]~-~608630~-","ROBO3"]
["ROBO3","Synergistic convergance, with scoliosis","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis","Autosomal Recessive","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis:Autosomal Recessive","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64221[geneid]~-~608630~-","ROBO3"]
["ROCK1","Tetralogy of Fallot, predisposition to","Tetralogy of Fallot","Risk",null,null,"HIGH","-~-~601702~-","ROCK1"]
["ROGDI","Kohlschutter-Tonz syndrome","Kohlschutter's syndrome","Autosomal Recessive","Kohlschutter's syndrome:Autosomal Recessive","Kohlschutter's syndrome:Autosomal Recessive","HIGH","-~-~614574~-","ROGDI"]
["ROM1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 7, Digenic:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6094[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~180721~-","ROM1"]
["ROR2","Brachydactyly, type B","Brachydactyly, Type B1;Brachydactyly","Autosomal Dominant","Brachydactyly:Autosomal Dominant$Brachydactyly, Type B1:Autosomal Dominant$Robinow syndrome, Autosomal Recessive:Autosomal Recessive$Robinow syndrome:Autosomal Recessive","Brachydactyly:Autosomal Dominant$Robinow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1240~602337~-","ROR2"]
["ROR2","Robinow syndrome","Robinow syndrome","Autosomal Recessive","Brachydactyly:Autosomal Dominant$Brachydactyly, Type B1:Autosomal Dominant$Robinow syndrome, Autosomal Recessive:Autosomal Recessive$Robinow syndrome:Autosomal Recessive","Brachydactyly:Autosomal Dominant$Robinow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1240~602337~-","ROR2"]
["ROR2","Robinow syndrome, Autosomal Recessive","Robinow syndrome","Autosomal Recessive","Brachydactyly:Autosomal Dominant$Brachydactyly, Type B1:Autosomal Dominant$Robinow syndrome, Autosomal Recessive:Autosomal Recessive$Robinow syndrome:Autosomal Recessive","Brachydactyly:Autosomal Dominant$Robinow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1240~602337~-","ROR2"]
["ROR2","Robinow syndrome, recessive with brachydactyly type B","Robinow syndrome;Brachydactyly, Type B1","Autosomal Recessive","Brachydactyly:Autosomal Dominant$Brachydactyly, Type B1:Autosomal Dominant$Robinow syndrome, Autosomal Recessive:Autosomal Recessive$Robinow syndrome:Autosomal Recessive","Brachydactyly:Autosomal Dominant$Robinow syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4920[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1240~602337~-","ROR2"]
["ROS1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~165020~-","ROS1"]
["RP1","Retinitis pigmentosa","Retinitis pigmentosa 1;Retinitis pigmentosa","Autosomal Dominant","Retinitis pigmentosa 1:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa 1:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10982[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~605789~-","MAPRE2"]
["RP1","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa 1;Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa 1:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa 1:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10982[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~605789~-","MAPRE2"]
["RP1","Retinitis pigmentosa, early-onset","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa 1:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa 1:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Dominant$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10982[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~605789~-","RP1"]
["RP1L1","Macular dystrophy, occult","Occult macular dystrophy","Autosomal Dominant","Occult macular dystrophy:Autosomal Dominant","Occult macular dystrophy:Autosomal Dominant","HIGH","-~-~608581~-","RP1L1"]
["RP1L1","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Occult macular dystrophy:Autosomal Dominant","Occult macular dystrophy:Autosomal Dominant","HIGH","-~-~608581~-","RP1L1"]
["RP2","Retinitis pigmentosa, X-linked","Retinitis Pigmentosa 2;Retinitis pigmentosa","X-linked Recessive","Retinitis Pigmentosa 2:X-linked Recessive$Retinitis pigmentosa:X-linked Recessive","Retinitis pigmentosa:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6102[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~300757~-","RP2"]
["RP9","Retinitis pigmentosa","Retinitis Pigmentosa 9;Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 9:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6100[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~607331~-","RP9"]
["RPA1","Altered mRNA folding","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~179835~-","RPA1"]
["RPA4","Altered level of single strand breaks","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~300767~-","RPA4"]
["RPE65","Cone-rod dystrophy, early-onset, severe","Progressive cone-rod dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Fundus albipunctatus","Pigmentary retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Leber congenital amaurosis","Amaurosis congenita of Leber, type 2;Leber's amaurosis","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Retinal dystrophy","Retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Retinal dystrophy, Autosomal Recessive","Retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Retinal dystrophy, childhood onset","Retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Retinal dystrophy, severe, childhood onset","Retinal dystrophy","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Retinitis pigmentosa","Retinitis Pigmentosa 20;Retinitis pigmentosa","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Retinitis pigmentosa / choroideremia","Retinitis pigmentosa;Choroideremia","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPE65","Retinitis pigmentosa, juvenile-onset","Retinitis Pigmentosa 20;Retinitis pigmentosa","Autosomal Recessive","Leber Congenital Amaurosis 2:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis Pigmentosa 20:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6121[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~180069~-","RPE65"]
["RPGR","Retinitis pigmentosa","Retinitis Pigmentosa 20;Retinitis pigmentosa","Autosomal Recessive","Cone-Rod Dystrophy, X-Linked, Type 1:X-linked Recessive$Progressive cone-rod dystrophy:X-linked Recessive$Macular degeneration:X-linked Recessive$Retinitis Pigmentosa 3:X-linked dominant$Retinitis pigmentosa:X-linked dominant$Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness:X-linked dominant","Progressive cone-rod dystrophy:X-linked Recessive$Macular degeneration:X-linked Recessive$Retinitis pigmentosa:X-linked dominant$Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6103[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~312610~-","RPGR"]
["RPGRIP1","Cone-rod dystrophy","Cone-Rod Dystrophy 13;Progressive cone-rod dystrophy","Autosomal Recessive","Cone-Rod Dystrophy 13:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Leber Congenital Amaurosis 6:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~605446~-","RPGRIP1"]
["RPGRIP1","Glaucoma, primary open angle","Primary open angle glaucoma","Autosomal Dominant","Cone-Rod Dystrophy 13:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Leber Congenital Amaurosis 6:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~605446~-","RPGRIP1"]
["RPGRIP1","Leber congenital amaurosis","Leber's amaurosis","Autosomal Recessive","Cone-Rod Dystrophy 13:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Leber Congenital Amaurosis 6:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~605446~-","RPGRIP1"]
["RPGRIP1","Leber congenital amaurosis, cone-rod","Leber's amaurosis","Autosomal Recessive","Cone-Rod Dystrophy 13:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Leber Congenital Amaurosis 6:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~605446~-","RPGRIP1"]
["RPGRIP1","Retinitis pigmentosa","NULL","No significant association PMID 18055816","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~605446~-","RPGRIP1"]
["RPGRIP1","Retinitis pigmentosa, isolated","Retinitis pigmentosa","Autosomal Recessive","Cone-Rod Dystrophy 13:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Leber Congenital Amaurosis 6:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~605446~-","RPGRIP1"]
["RPGRIP1","Retinitis punctata albescens","Retinitis punctata albescens","Risk","Cone-Rod Dystrophy 13:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Leber Congenital Amaurosis 6:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57096[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1298~605446~-","RPGRIP1"]
["RPGRIP1L","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Modifier","COACH syndrome:Autosomal Recessive$Joubert syndrome 7:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 5:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23322[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610937~-","RPGRIP1L"]
["RPGRIP1L","COACH syndrome","COACH syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 7:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 5:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23322[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610937~-","RPGRIP1L"]
["RPGRIP1L","Joubert syndrome","Joubert Syndrome 7;Familial aplasia of the vermis","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 7:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 5:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23322[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610937~-","RPGRIP1L"]
["RPGRIP1L","Leber congenital amaurosis","Leber's amaurosis","Modifier","COACH syndrome:Autosomal Recessive$Joubert syndrome 7:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 5:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23322[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610937~-","RPGRIP1L"]
["RPGRIP1L","Meckel syndrome","Meckel Syndrome, Type 5;Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 7:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 5:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23322[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610937~-","RPGRIP1L"]
["RPGRIP1L","Meckel-Gruber syndrome","Meckel Syndrome, Type 5;Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 7:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 5:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23322[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610937~-","RPGRIP1L"]
["RPGRIP1L","Retinitis pigmentosa, modifier of","Retinitis pigmentosa","Modifier","COACH syndrome:Autosomal Recessive$Joubert syndrome 7:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel Syndrome, Type 5:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23322[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610937~-","RPGRIP1L"]
["RPIA","Ribose-5-phosphate isomerase deficiency","Deficiency of ribose-5-phosphate isomerase","Autosomal Recessive","Deficiency of ribose-5-phosphate isomerase:Autosomal Recessive","Deficiency of ribose-5-phosphate isomerase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22934[geneid]~-~180430~-","RPIA"]
["RPL10","Autism","Autistic Disorder","X-linked Recessive","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1442~312173~-","RPL10"]
["RPL11","Diamond-Blackfan anaemia","Diamond-Blackfan Anemia 7;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia 7:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6135[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~604175~-","RPL11"]
["RPL21","Hypotrichosis simplex","Hypotrichosis","Autosomal Dominant",null,null,"HIGH","-~-~603636~-","RPL21"]
["RPL26","Diamond-Blackfan anaemia","Diamond-Blackfan Anemia 5;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6154[geneid]~-~603704~-","RPL26"]
["RPL35A","Diamond-Blackfan anaemia","Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia 5:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~180468~-","RPL35A"]
["RPL36","Diamond-Blackfan anaemia","Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25873[geneid]~-~-~-","RPL36"]
["RPL5","Diamond-Blackfan anaemia","Aase syndrome","Autosomal Dominant","Diamond-Blackfan anemia 6:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6125[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~603634~-","RPL5"]
["RPN2","Congenital disorder of glycosylation 1","Carbohydrate-deficient glycoprotein syndrome","Autosomal Recessive",null,null,"HIGH","-~-~180490~-","RPN2"]
["RPS10","Diamond-Blackfan anaemia","Diamond-Blackfan Anemia 9;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia 9:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6204[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~603632~-","RPS10"]
["RPS15","Diamond-Blackfan anaemia","Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","-~-~180535~-","RPS15"]
["RPS17","Diamond-Blackfan anaemia","Diamond-Blackfan Anemia 4;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia 4:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~180472~-","RPS17"]
["RPS19","Diamond-Blackfan anaemia","Diamond-Blackfan Anemia 1;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia 1:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6223[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~603474~-","RPS19"]
["RPS24","Diamond-Blackfan anaemia","Anemia, Diamond-Blackfan, 3;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-blackfan anemia 3:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6229[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~602412~-","RPS24"]
["RPS26","Diamond-Blackfan anaemia","Diamond-Blackfan Anemia 10;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia 10:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6231[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~603701~-","RPS26"]
["RPS27A","Diamond-Blackfan anaemia","Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","-~-~191343~-","RPS27A"]
["RPS6KA3","Autism","Autistic Disorder","Risk","Coffin-Lowry syndrome:X-linked dominant$Mental Retardation, X-Linked 19:X-linked dominant$Mental retardation:X-linked dominant","Coffin-Lowry syndrome:X-linked dominant$Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6197[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1346~300075~-","RPS6KA3"]
["RPS6KA3","Coffin-Lowry syndrome","Coffin-Lowry syndrome","X-linked Dominant","Coffin-Lowry syndrome:X-linked dominant$Mental Retardation, X-Linked 19:X-linked dominant$Mental retardation:X-linked dominant","Coffin-Lowry syndrome:X-linked dominant$Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6197[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1346~300075~-","RPS6KA3"]
["RPS6KA3","Mental retardation, non-specific","Mental retardation","X-linked Dominant","Coffin-Lowry syndrome:X-linked dominant$Mental Retardation, X-Linked 19:X-linked dominant$Mental retardation:X-linked dominant","Coffin-Lowry syndrome:X-linked dominant$Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6197[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1346~300075~-","RPS6KA3"]
["RPS7","Diamond-Blackfan anaemia","Diamond-Blackfan Anemia 8;Congenital hypoplastic anemia","Autosomal Dominant","Diamond-Blackfan anemia 8:Autosomal Dominant$Diamond-Blackfan anemia:Autosomal Dominant","Diamond-Blackfan anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6201[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7047~603658~-","RPS7"]
["RPSA","Asplenia, isolated congenital","Hypoplasia of spleen","Autosomal Dominant","Hypoplasia of spleen:Autosomal Dominant","Hypoplasia of spleen:Autosomal Dominant","HIGH","-~-~150370~-","RPSA"]
["RRH","Retinitis punctata albescens","Retinitis pigmentosa","Autosomal Dominant",null,null,"HIGH","-~-~605224~-","RRH"]
["RRM1","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~180410~-","RRM1"]
["RRM2B","Altered p53 binding","Drug Response","Pharmacogenetic","Depletion of mitochondrial DNA:Autosomal Recessive$Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy):Autosomal Recessive$Mitochondrial DNA depletion syndrome 8B (MNGIE type):Autosomal Recessive$Progressive external ophthalmoplegia with mitochondrial DNA deletions, Autosomal Dominant, 5:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50484[geneid]~-~604712~-","RRM2B"]
["RRM2B","Kearns-Sayre syndrome","Kearns-Sayre syndrome","Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy):Autosomal Recessive$Mitochondrial DNA depletion syndrome 8B (MNGIE type):Autosomal Recessive$Progressive external ophthalmoplegia with mitochondrial DNA deletions, Autosomal Dominant, 5:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50484[geneid]~-~604712~-","RRM2B"]
["RRM2B","Mitochondrial DNA depletion syndrome","Mitochondrial DNA Depletion Syndrome 8A;Depletion of mitochondrial DNA","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy):Autosomal Recessive$Mitochondrial DNA depletion syndrome 8B (MNGIE type):Autosomal Recessive$Progressive external ophthalmoplegia with mitochondrial DNA deletions, Autosomal Dominant, 5:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50484[geneid]~-~604712~-","RRM2B"]
["RRM2B","Mitochondrial DNA depletion syndrome, myopathic","Mitochondrial DNA Depletion Syndrome 8A;Depletion of mitochondrial DNA","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy):Autosomal Recessive$Mitochondrial DNA depletion syndrome 8B (MNGIE type):Autosomal Recessive$Progressive external ophthalmoplegia with mitochondrial DNA deletions, Autosomal Dominant, 5:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50484[geneid]~-~604712~-","RRM2B"]
["RRM2B","Mitochondrial neurogastrointestinal encephalopathy","Mitochondrial DNA depletion syndrome 8B;Depletion of mitochondrial DNA","Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive$Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy):Autosomal Recessive$Mitochondrial DNA depletion syndrome 8B (MNGIE type):Autosomal Recessive$Progressive external ophthalmoplegia with mitochondrial DNA deletions, Autosomal Dominant, 5:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50484[geneid]~-~604712~-","RRM2B"]
["RRM2B","Progressive external ophthalmoplegia","Progressive external ophthalmoplegia","Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy):Autosomal Recessive$Mitochondrial DNA depletion syndrome 8B (MNGIE type):Autosomal Recessive$Progressive external ophthalmoplegia with mitochondrial DNA deletions, Autosomal Dominant, 5:Autosomal Dominant$Progressive external ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive external ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50484[geneid]~-~604712~-","RRM2B"]
["RS1","Retinoschisis, X linked","Retinoschisis","X-linked Recessive","Retinoschisis:X-linked Recessive","Retinoschisis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6247[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1222~300839~-","RS1"]
["RS1","Retinoschisis, X linked juvenile","Juvenile retinoschisis","X-linked Recessive","Retinoschisis:X-linked Recessive","Retinoschisis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6247[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1222~300839~-","RS1"]
["RSPH4A","Ciliary dyskinesia, primary","Ciliary Dyskinesia, Primary, 11;Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 11:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=345895[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~612647~-","RSPH4A"]
["RSPH9","Ciliary dyskinesia, primary","Ciliary Dyskinesia, Primary, 12;Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 12:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=221421[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~612648~-","RSPH9"]
["RSPO1","XX sex reversal","Palmoplantar Hyperkeratosis And True Hermaphroditism","Autosomal Recessive","Palmoplantar Hyperkeratosis And True Hermaphroditism:Autosomal Recessive$Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal:Autosomal Recessive","Palmoplantar Hyperkeratosis And True Hermaphroditism:Autosomal Recessive$Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal:Autosomal Recessive","HIGH","-~-~609595~-","RSPO1"]
["RSPO1","XX sex reversal, PPK and SCC","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal","Autosomal Recessive","Palmoplantar Hyperkeratosis And True Hermaphroditism:Autosomal Recessive$Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal:Autosomal Recessive","Palmoplantar Hyperkeratosis And True Hermaphroditism:Autosomal Recessive$Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal:Autosomal Recessive","HIGH","-~-~609595~-","RSPO1"]
["RSPO4","Anonychia","Anonychia","Autosomal Recessive","Anonychia congenita:Autosomal Recessive","Anonychia congenita:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=343637[geneid]~-~610573~-","RSPO4"]
["RTEL1","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","HIGH","-~-~608833~-","RTEL1"]
["RTEL1","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Recessive","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","HIGH","-~-~608833~-","RTEL1"]
["RTEL1","Hoyeraal-Hreidarsson syndrome","Hoyeraal Hreidarsson syndrome","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","HIGH","-~-~608833~-","RTEL1"]
["RTEL1","Hoyeraal-Hreidarsson syndrome","Hoyeraal Hreidarsson syndrome","Autosomal Recessive","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Hoyeraal Hreidarsson syndrome:Autosomal Dominant$Hoyeraal Hreidarsson syndrome:Autosomal Recessive","HIGH","-~-~608833~-","RTEL1"]
["RTF1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611633~-","RTF1"]
["RTN2","Spastic paraplegia 12","Spastic paraplegia 12, Autosomal Dominant","Autosomal Dominant","Spastic paraplegia 12, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","-~-~603183~-","RTN2"]
["RTN3","Severe malaria, increased risk","Malaria","Risk",null,null,"HIGH","-~-~604249~-","RTN3"]
["RTN4RL1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610461~-","RTN4RL1"]
["RTTN","Polymicrogyria","Microgyria","Autosomal Recessive","Polymicrogyria with seizures:Autosomal Recessive","Polymicrogyria with seizures:Autosomal Recessive","HIGH","-~-~610436~-","RTTN"]
["RUNX1","Acute myeloid leukaemia","Acute myeloid leukemia, disease","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX1","Leukaemia, chronic myelomonocytic","Acute myeloid leukemia, disease","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX1","Myelodysplastic/myeloproliferative disease","Myelodysplastic/myeloproliferative disease","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX1","Platelet disorder, familial","Hereditary platelet function disorder","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX1","Platelet disorder, familial & myeloid leukaemia","Hereditary platelet function disorder;Acute myeloid leukemia, disease","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX1","Platelet disorder, familial with associated myeloid malignancy","Hereditary platelet function disorder;Acute myeloid leukemia, disease","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX1","Thrombocytopaenia","Refractory thrombocytopenia","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX1","Thrombocytopaenia and acute myeloid leukaemia","Refractory thrombocytopenia;Acute myeloid leukemia, disease","Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant$Hereditary platelet function disorder:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=861[geneid]~-~151385~-","RUNX1"]
["RUNX2","Cleidocranial dysplasia","Cleidocranial dysostosis","Autosomal Dominant","Cleidocranial dysostosis:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly:Autosomal Dominant$Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly:Autosomal Dominant","Cleidocranial dysostosis:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly:Autosomal Dominant$Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1513~600211~-","RUNX2"]
["RUNX2","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly","Autosomal Dominant","Cleidocranial dysostosis:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly:Autosomal Dominant$Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly:Autosomal Dominant","Cleidocranial dysostosis:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only:Autosomal Dominant$Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly:Autosomal Dominant$Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1513~600211~-","RUNX2"]
["RUVBL1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603449~-","RUVBL1"]
["RXFP2","Cryptorchidism","Undescended testicle","Autosomal Dominant","Undescended testicle:Autosomal Dominant","Undescended testicle:Autosomal Dominant","HIGH","-~-~606655~-","RXFP2"]
["RYR1","Axial myopathy, late-onset","Axial myopathy","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Central core disease","Central core disease","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Core rod myopathy","Multi-core congenital myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Core/rod disease","Multi-core congenital myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Exertional myalgia and/or rhabdomyolysis","Exertional rhabdomyolysis","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Fibre type disproportion, congenital","Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Hypotonia, lethal neonatal","Neonatal hypotonia","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Malignant hyperthermia","Malignant hyperthermia","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Malignant hyperthermia & exertional rhabdomyolosis","Malignant hyperthermia;Exertional rhabdomyolysis","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Malignant hyperthermia equivocal with halotane","Malignant hyperthermia","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Multi-minicore disease","Multi-core congenital myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Multi-minicore disease & atypical periodic paralysis","Multi-core congenital myopathy;Periodic paralysis","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Multiminicore/minicore/multicore disease","Multi-core congenital myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Muscular dystrophy and arthrogryposis","Muscular dystrophy;Arthrogryposis","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Muscular dystrophy, progressive axial","Muscular dystrophy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myopathy, centronuclear","Myotubular myopathy","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myopathy, congenital","Congenital hereditary muscular dystrophy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myopathy, congenital ","Congenital hereditary muscular dystrophy","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myopathy, congenital with cores","Multi-core congenital myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myopathy, progressive axial with cataracts","Congenital hereditary muscular dystrophy;Cataract","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myopathy, RYR1-associated","Myopathy","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myopathy, RYR1-associated","Myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Myotonic dystrophy, type 1","Congenital myotonic dystrophy","Autosomal Dominant","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Nemaline myopathy","Nemaline myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR1","Samaritan myopathy","Multi-core congenital myopathy","Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","Central core disease:Autosomal Dominant$Central core disease:Autosomal Recessive$King Denborough syndrome:Autosomal Dominant$Multi-core congenital myopathy:Autosomal Recessive$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Dominant$Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6261[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290$http://www.ncbi.nlm.nih.gov/books/NBK1391$http://www.ncbi.nlm.nih.gov/books/NBK1146~180901~-","RYR1"]
["RYR2","Altered channel function","NULL","No disease association PMID 18326664","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~180902~-","RYR2"]
["RYR2","Arrhythmogenic right ventricular dysplasia type 2","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2;Arrhythmogenic right ventricular dysplasia","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Arrhythmogenic right ventricular dysplasia/cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Catecholaminergic polymorphic ventricular tachycardia","Catecholaminergic polymorphic ventricular tachycardia","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Sudden cardiac death","Sudden cardiac death","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Sudden unexplained death","Unexplained sudden death","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR2","Ventricular tachycardia, polymorphic","Catecholaminergic polymorphic ventricular tachycardia","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Catecholaminergic polymorphic ventricular tachycardia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6262[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131$http://www.ncbi.nlm.nih.gov/books/NBK1289~180902~-","RYR2"]
["RYR3","Hyperinsulinism","Hyperinsulinism","Risk",null,null,"HIGH","-~-~180903~-","RYR3"]
["S1PR3","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~601965~-","S1PR3"]
["SAA1","Serum amyloid variant","Amyloid nephropathy in Familial Mediterranean fever","Modifier","Familial Mediterranean fever:Modifier","Familial Mediterranean fever:Modifier","HIGH","-~-~104750~-","SAA1"]
["SACS","ARSACS without leg spasticity","Spastic ataxia Charlevoix-Saguenay type","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Ataxia","Ataxia","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Ataxia, early-onset","Early onset cerebellar ataxia","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Cerebellar ataxia","Cerebellar ataxia","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Neuropathy, prominent sensorimotor","Sensorimotor neuropathy","Autosomal Dominant","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Sacsin-related ataxia","Spastic ataxia Charlevoix-Saguenay type","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Spastic ataxia","Spastic ataxia Charlevoix-Saguenay type","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Spastic ataxia, Charlevoix-Saguenay","Spastic ataxia Charlevoix-Saguenay type","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SACS","Spastic paraplegia, non-ataxic, and peripheral neuropathy","Spastic ataxia;Peripheral Neuropathy","Autosomal Recessive","Spastic ataxia Charlevoix-Saguenay type:Autosomal Recessive$Spastic ataxia:Autosomal Recessive","Spastic ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1255~604490~-","SACS"]
["SAG","Oguchi disease","Oguchi's disease","Autosomal Recessive","Oguchi's disease:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Oguchi's disease:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6295[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~181031~-","SAG"]
["SAG","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Oguchi's disease:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Oguchi's disease:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6295[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~181031~-","SAG"]
["SALL1","Goldenhar syndrome","Goldenhar syndrome","Autosomal Dominant","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1445~602218~-","SALL1"]
["SALL1","Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development","Multiple congenital anomalies;Mental retardation","Autosomal Recessive","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1445~602218~-","SALL1"]
["SALL1","Renal hypodysplasia","Congenital hypoplasia of kidney","Autosomal Dominant","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1445~602218~-","SALL1"]
["SALL1","Townes-Brocks syndrome","Townes-Brocks-Branchiootorenal-Like Syndrome","Autosomal Dominant","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","Townes-Brocks-Branchiootorenal-Like Syndrome:Autosomal Dominant$Townes syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1445~602218~-","SALL1"]
["SALL4","Acro-renal-ocular syndrome","Duane Anomaly with Radial Ray Abnormalities and Deafness","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","Cranial midline defects/ mild Okihiro syndrome","Duane Anomaly with Radial Ray Abnormalities and Deafness","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","Duane retraction syndrome","Duane's syndrome","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","Holt-Oram syndrome","Duane Anomaly with Radial Ray Abnormalities and Deafness","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","IVIC syndrome","Oculootoradial syndrome","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","Okihiro syndrome","Duane Anomaly with Radial Ray Abnormalities and Deafness","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","Premature ovarian failure","Premature ovarian failure","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","VACTERL","Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome","Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SALL4","Ventricular septal defect","Ventricular septal defect","Risk","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","Duane Anomaly with Radial Ray Abnormalities and Deafness:Autosomal Dominant$Oculootoradial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57167[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1373~607343~-","SALL4"]
["SAMD9","Tumoural calcinosis, normophosphataemic","Tumoral Calcinosis, Normophosphatemic, Familial","Autosomal Recessive","Tumoral Calcinosis, Normophosphatemic, Familial:Autosomal Recessive$Tumoral calcinosis:Autosomal Recessive","Tumoral calcinosis:Autosomal Recessive","HIGH","-~-~610456~-","SAMD9"]
["SAMHD1","Aicardi-Goutieres syndrome","Aicardi-Goutieres syndrome 5","Autosomal Recessive","Aicardi-Goutieres syndrome 5:Autosomal Recessive$Aicardi Goutieres syndrome:Autosomal Recessive$Chilblain lupus erythematosus:Autosomal Dominant$Chilblain lupus:Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Recessive$Chilblain lupus erythematosus:Autosomal Dominant$Chilblain lupus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606754~-","SAMHD1"]
["SAMHD1","Cerebral vasculopathy & early onset stroke","Cerebrovascular disease;Stroke","Autosomal Recessive","Aicardi-Goutieres syndrome 5:Autosomal Recessive$Aicardi Goutieres syndrome:Autosomal Recessive$Chilblain lupus erythematosus:Autosomal Dominant$Chilblain lupus:Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Recessive$Chilblain lupus erythematosus:Autosomal Dominant$Chilblain lupus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606754~-","SAMHD1"]
["SAMHD1","Chilblain lupus 2","Chilblain lupus 2","Autosomal Dominant","Aicardi-Goutieres syndrome 5:Autosomal Recessive$Aicardi Goutieres syndrome:Autosomal Recessive$Chilblain lupus erythematosus:Autosomal Dominant$Chilblain lupus:Autosomal Dominant","Aicardi Goutieres syndrome:Autosomal Recessive$Chilblain lupus erythematosus:Autosomal Dominant$Chilblain lupus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25939[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606754~-","SAMHD1"]
["SAR1B","Chylomicron retention disease","Chylomicron retention disease","Autosomal Recessive","Chylomicron retention disease:Autosomal Recessive","Chylomicron retention disease:Autosomal Recessive","HIGH","-~-~607690~-","SAR1B"]
["SAR1B","Chylomicron retention disease with Marinesco-Sjogren syndrome","Chylomicron retention disease","Autosomal Recessive","Chylomicron retention disease:Autosomal Recessive","Chylomicron retention disease:Autosomal Recessive","HIGH","-~-~607690~-","SAR1B"]
["SAR1B","Hypobetalipoproteinaemia","Hypo-beta-lipoproteinemia","Autosomal Recessive","Chylomicron retention disease:Autosomal Recessive","Chylomicron retention disease:Autosomal Recessive","HIGH","-~-~607690~-","SAR1B"]
["SARDH","Sarcosinemia","Sarcosine dehydrogenase deficiency","Autosomal Recessive","Sarcosinemia:Autosomal Recessive$Sarcosine dehydrogenase deficiency:Autosomal Recessive","Sarcosinemia:Autosomal recessiv","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1757[geneid]~-~604455~-","SARDH"]
["SARS2","Hyperuricemia, pulmonary hypertension, renal failure & alkalosis","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","Autosomal Recessive","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54938[geneid]~-~612804~-","SARS2"]
["SART3","Disseminated superficial actinic porokeratosis","Porokeratosis, disseminated superficial actinic 1","Autosomal Dominant","Disseminated superficial actinic porokeratosis:Autosomal Dominant","Disseminated superficial actinic porokeratosis:Autosomal Dominant","HIGH","-~-~611684~-","SART3"]
["SATB2","Autism spectrum disorder","Autistic Disorder","Risk","Cleft Palate, Isolated, And Mental Retardation:Autosomal Dominant","Cleft Palate, Isolated, And Mental Retardation:Autosomal Dominant","HIGH","-~-~608148~-","SATB2"]
["SATB2","Cleft palate, osteoporosis and cognitive defects","Cleft Palate, Isolated, And Mental Retardation","Autosomal Dominant","Cleft Palate, Isolated, And Mental Retardation:Autosomal Dominant","Cleft Palate, Isolated, And Mental Retardation:Autosomal Dominant","HIGH","-~-~608148~-","SATB2"]
["SATB2","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Cleft Palate, Isolated, And Mental Retardation:Autosomal Dominant","Cleft Palate, Isolated, And Mental Retardation:Autosomal Dominant","HIGH","-~-~608148~-","SATB2"]
["SATL1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","SATL1"]
["SBDS","Neutropaenia, congenital","Congenital neutropenia","Autosomal Recessive","Shwachman syndrome:Autosomal Recessive","Shwachman syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51119[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1756~607444~-","SBDS"]
["SBDS","Shwachman-Diamond syndrome","Shwachman syndrome","Autosomal Recessive","Shwachman syndrome:Autosomal Recessive","Shwachman syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51119[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1756~607444~-","SBDS"]
["SBF1","Autism","Autistic Disorder","Risk","Charcot-Marie-Tooth disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","-~-~603560~-","SBF1"]
["SBF1","Charcot-Marie-Tooth disease type 4B3","Charcot-Marie-Tooth disease","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","-~-~603560~23749797","SBF1"]
["SBF2","Charcot-Marie-Tooth disease 4b2","Charcot-Marie-Tooth disease, Type 4B2","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B2:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81846[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~607697~-","SBF2"]
["SBF2","Hereditary motor & sensory neuropathy","Hereditary motor and sensory neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B2:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81846[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~607697~-","SBF2"]
["SBF2","Thrombocytopaenia","Thrombocytopenia","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4B2:Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81846[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468~607697~-","SBF2"]
["SC4MOL","Psoriasiform dermatitis, microcephaly & developmental delay","Psoriasiform dermatitis;Joint pain;Congenital cataract;Microcephalus;Developmental delay","Autosomal Recessive",null,null,"HIGH","-~-~607545~-","MSMO1"]
["SC5DL","Lathosterolosis","Lathosterolosis","Autosomal Recessive","Lathosterolosis:Autosomal Recessive","Lathosterolosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6309[geneid]~-~602286~-","SC5D"]
["SCARB1","Increased HDL cholesterol","High density lipoprotein cholesterol level","Modifier","High density lipoprotein cholesterol level:Modifier","High density lipoprotein cholesterol level:Modifier","HIGH","-~-~601040~-","SCARB1"]
["SCARB1","Receptor variant","High density lipoprotein cholesterol level;Body mass index","Modifier","High density lipoprotein cholesterol level:Modifier","High density lipoprotein cholesterol level:Modifier","HIGH","-~-~601040~-","SCARB1"]
["SCARB2","Action myoclonus-renal failure syndrome","Action Myoclonus Renal Failure Syndrome","Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=950[geneid]~-~602257~-","SCARB2"]
["SCARB2","Action myoclonus-renal failure syndrome with hearing loss","Action Myoclonus Renal Failure Syndrome;Hearing loss","Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=950[geneid]~-~602257~-","SCARB2"]
["SCARB2","Autism","Autistic Disorder","Risk","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=950[geneid]~-~602257~-","SCARB2"]
["SCARB2","Epilepsy, progressive myoclonus, late-onset","Progressive myoclonic epilepsy","Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=950[geneid]~-~602257~-","SCARB2"]
["SCARB2","Myoclonic epilepsy","Idiopathic myoclonic epilepsy","Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=950[geneid]~-~602257~-","SCARB2"]
["SCARB2","Myoclonus epilepsy without renal failure","Idiopathic myoclonic epilepsy","Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","Action Myoclonus Renal Failure Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=950[geneid]~-~602257~-","SCARB2"]
["SCARF2","Van Den Ende-Gupta syndrome","Marden Walker like syndrome","Autosomal Recessive","Marden Walker like syndrome:Autosomal Recessive","Marden Walker like syndrome:Autosomal Recessive","HIGH","-~-~613619~-","SCARF2"]
["SCGB1D2","Altered p53 transactivation","DNA damage;Cellular Stress Response","Modifier",null,null,"HIGH","-~-~615061~-","SCGB1D2"]
["SCN10A","Peripheral neuropathy, painful","Paroxysmal Nerve Pain","Autosomal Dominant","Paroxysmal Nerve Pain:Autosomal Dominant","Paroxysmal Nerve Pain:Autosomal Dominant","HIGH","-~-~604427~-","SCN10A"]
["SCN1A","Acute encephalopathy","Acute encephalopathy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Autism","Autistic Disorder","Risk","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Autism spectrum disorder","Autistic Disorder","Risk","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Cryptogenic focal epilepsy","Partial seizure","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Cryptogenic generalised epilepsy","Generalized epilepsy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Developmental disorder and intellectual disability","Developmental disorder;Intellectual Disability","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Dravet syndrome","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Dravet syndrome B","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Dravet syndrome C","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Dravet syndrome, atypical","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Epilepsy","Epilepsy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Epilepsy, idiopathic","Idiopathic generalized epilepsy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Epilepsy-aphasia","Acquired Epileptic Aphasia","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Epilepsy-aphasia with febrile seizures plus","Acquired Epileptic Aphasia;Febrile Convulsions","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Epileptic encephalopathy","Early myoclonic encephalopathy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Epileptic encephalopathy, early onset","Early myoclonic encephalopathy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Febrile seizures","Febrile convulsion","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Febrile seizures plus","Generalized Epilepsy With Febrile Seizures Plus, Type 2","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Generalised epilepsy with febrile seizures plus 2","Generalized Epilepsy With Febrile Seizures Plus, Type 2","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Generalized epilepsy of infancy","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Generalized epilepsy with febrile seizures plus","Generalized Epilepsy With Febrile Seizures Plus, Type 2","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Hemiplegic migraine","Migraine, Familial Hemiplegic, 3;Hemiplegic migraine","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Hemiplegic migraine 2","Migraine, Familial Hemiplegic, 3;Hemiplegic migraine","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Hemiplegic migraine and epilepsy","Migraine, Familial Hemiplegic, 3;Epilepsy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Hepatic coma","Hepatic coma","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Intractable epilepsy","Refractory epilepsy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Lennox-Gastaut syndrome","Lennox-Gastaut syndrome","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Migrating partial seizures of infancy","Migrating partial seizures in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Myoclonic epilepsy of infancy","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Myoclonic epilepsy, borderline","Epileptic seizures - myoclonic","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Myoclonic-astatic epilepsy","Myoclonic astatic epilepsy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Panayiotopoulos syndrome","Benign occipital epilepsy of childhood - early onset variant","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Partial epilepsy with febrile seizures plus","Partial seizure;Febrile convulsion","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Partial seizures of infancy, malignant migrating","Migrating partial seizures in infancy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Rasmussen encephalitis","Rasmussen syndrome","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1A","Sudden unexpected death in epilepsy","Sudden unexplained death in epilepsy","Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile Convulsions, Familial, 3A:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Migraine, Familial Hemiplegic, 3:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","Severe myoclonic epilepsy in infancy:Autosomal Dominant$Epilepsy, generalized, with febrile seizures plus, type 2:Autosomal Dominant$Febrile convulsion:Autosomal Dominant$Hemiplegic migraine:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6323[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1318$http://www.ncbi.nlm.nih.gov/books/NBK1388~182389~-","SCN1A"]
["SCN1B","Atrial Fibrillation, Familial","Atrial Fibrillation, Familial","Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN1B","Brugada Syndrome 5","Conduction disorder of the heartBrugada Syndrome 5","Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN1B","Cardiac conduction disease","Conduction disorder of the heart","Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN1B","Dravet syndrome","Severe myoclonic epilepsy in infancy","Autosomal Recessive","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN1B","Epilepsy, generalised, with febrile seizures","Generalized Epilepsy With Febrile Seizures Plus, Type 1","Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN1B","Epilepsy, idiopathic","Idiopathic generalized epilepsy","Risk","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN1B","Myoclonic epilepsy of infancy","Severe myoclonic epilepsy in infancy","Autosomal Recessive","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN1B","Partial epilepsy","Partial seizure","Autosomal Recessive","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome 5:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiac conduction defect, nonspecific:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy With Febrile Seizures Plus, Type 1:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Conduction disorder of the heart:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6324[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~600235~-","SCN1B"]
["SCN2A","Acute encephalitis with refractory, repetitive partial seizures","Epileptic encephalopathy, early infantile, 11","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Autism","Autistic Disorder","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Autism spectrum disorder","Autistic Disorder","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Dravet syndrome","Severe myoclonic epilepsy in infancy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Epilepsy, idiopathic","Idiopathic generalized epilepsy","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Epilepsy, idiopathic generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Epileptic encephalopathy","Early myoclonic encephalopathy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Epileptic encephalopathy, early onset","Early myoclonic encephalopathy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Febrile and afebrile seizures","Febrile convulsion;Afebrile seizure","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Infantile seizures, benign","Benign neonatal familial convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Intellectual disability","Intellectual Disability","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Intellectual disability, developmental delay, seizures & hypotonia","Intellectual Disability;Developmental delay;Seizure;Hypotonia","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Intractable epilepsy and mental decline","Refractory epilepsy;Mild mental decline","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Lennox-Gastaut syndrome","Lennox-Gastaut syndrome","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Neonatal epilepsy, late-onset ataxia, myoclonus & pain","Benign neonatal familial convulsions;Late onset cerebellar ataxia;Myoclonus;Pain","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Neonatal-infantile seizures","Benign neonatal familial convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Seizures, benign infantile","Benign neonatal familial convulsions","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","Spasms, infantile, and bitemporal glucose hypometabolism","Infantile spasms","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2A","West syndrome with hypotonia","Infantile spasms;Hypotonia","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Epileptic encephalopathy, early infantile, 11:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant$Seizures, benign familial infantile, 3:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant$Benign neonatal familial convulsions:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6326[geneid]~-~182390~-","SCN2A"]
["SCN2B","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant","HIGH","-~-~601327~-","SCN2B"]
["SCN2B","Brugada syndrome","Brugada syndrome","Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant","Atrial Fibrillation:Autosomal Dominant","HIGH","-~-~601327~-","SCN2B"]
["SCN3A","Epilepsy, cryptogenic pediatric partial","Epilepsy characterized by intractable complex partial seizures","Autosomal Dominant",null,null,"HIGH","-~-~182391~-","SCN3A"]
["SCN3B","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Brugada syndrome 7:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55800[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~608214~-","SCN3B"]
["SCN3B","Brugada syndrome","Brugada syndrome","Autosomal Dominant","Brugada syndrome 7:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55800[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~608214~-","SCN3B"]
["SCN3B","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Dominant","Brugada syndrome 7:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55800[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~608214~-","SCN3B"]
["SCN3B","Ventricular fibrillation, idiopathic","Paroxysmal familial ventricular fibrillation","Autosomal Dominant","Brugada syndrome 7:Autosomal Dominant$Brugada syndrome:Autosomal Dominant","Brugada syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55800[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517~608214~-","SCN3B"]
["SCN4A","Congenital myasthenic syndrome","Familial infantile myasthenia","Autosomal Recessive","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Episodic laryngospasm, severe neonatal","Laryngeal spasm","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Hyperkalaemic periodic paralysis","Hyperkalemic periodic paralysis","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Hypokalaemic periodic paralysis","Hypokalemic Periodic Paralysis, Type 2;Hypokalemic periodic paralysis","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Impaired slow inactivation","Channelopathy","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Isolated eyelid closure myotonia","Eye closure myotonia","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Myotonia","Myotonia","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Myotonia & paralytic episodes","Familial periodic paralysis","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Myotonia, non-dystrophic","Non dystrophic myotonia","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Myotonia, potassium-aggravated","Potassium aggravated myotonia","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Normokalaemic periodic paralysis","Familial normokalemic periodic paralysis","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Paramyotonia congenita","Paramyotonia congenita","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Paramyotonia congenita, von Eulenburg","Paramyotonia congenita of Von Eulenburg","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4A","Periodic paralysis","Familial periodic paralysis","Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hyperkalemic Periodic Paralysis Type 2:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Hypokalemic Periodic Paralysis, Type 2:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","Hyperkalemic periodic paralysis:Autosomal Dominant$Hypokalemic periodic paralysis:Autosomal Dominant$Myasthenic Syndrome:Autosomal Dominant$Potassium aggravated myotonia:Autosomal Dominant$Paramyotonia congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6329[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1338$http://www.ncbi.nlm.nih.gov/books/NBK1168$http://www.ncbi.nlm.nih.gov/books/NBK1496~603967~-","SCN4A"]
["SCN4B","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Long QT Syndrome 10:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6330[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~608256~-","SCN4B"]
["SCN4B","Long QT syndrome","Long QT Syndrome 10;Long QT syndrome","Autosomal Dominant","Long QT Syndrome 10:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6330[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~608256~-","SCN4B"]
["SCN4B","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Dominant","Long QT Syndrome 10:Autosomal Dominant$Long QT syndrome:Autosomal Dominant","Long QT syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6330[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~608256~-","SCN4B"]
["SCN5A","Arrhythmia, lidocaine-induced","Induced ventricular tachycardia","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Atrial fibrillation","Atrial fibrillation","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Atrial standstill","Atrial standstill","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Atrioventricular block, idiopathic","Atrioventricular block","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Atrioventricular conduction block","Atrioventricular block","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Brugada syndrome","Brugada syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Brugada syndrome and epilepsy","Brugada syndrome;Epilepsy","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Brugada syndrome, lidocaine-induced","Brugada syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Brugada-like ST elevation","ST elevation","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Cardiac conduction disease","Conduction disorder of the heart","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Cardiac conduction disease and long QT syndrome","Conduction disorder of the heart;Long QT syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Cardiac sinus node dysfunction","Sinus node dysfunction","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Cardiac sodium channelopathies","Channelopathy","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Early repolarization syndrome","Early repolarization","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Heart block type 1","Hereditary bundle branch system defect","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Lenegre-Lev disease","Hereditary bundle branch system defect","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Long QT syndrome","Long QT syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Long QT syndrome & atrial fibrillation","Long QT syndrome;Atrial fibrillation","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Long QT syndrome and Brugada syndrome","Long QT syndrome;Brugada syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Long QT syndrome, malignant perinatal variant","Long QT syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Negative shift activation","NULL","No disease association PMID 15992732","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~600163~-","SCN5A"]
["SCN5A","Nodal rhythm","Sick sinus syndrome","Autosomal Recessive","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Romano-Ward syndrome","Romano-Ward syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Sick sinus syndrome, Autosomal Recessive","Sick sinus syndrome","Autosomal Recessive","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Slow inactivation and negative shft inactivation","NULL","in vitro study PMID 15992732","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~600163~-","SCN5A"]
["SCN5A","Sudden adult death syndrome","NULL","Mutation screen study PMID 16712702","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~600163~-","SCN5A"]
["SCN5A","Sudden cardiac death","Sudden cardiac death","Risk","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Recessive","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Sudden unexplained nocturnal death syndrome","Sudden Unexplained Nocturnal Death Syndrome;Brugada Syndrome","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Ventricular fibrillation during acute myocardial infarction","Ventricular Fibrillation, Paroxysmal Familial, 1","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Ventricular fibrillation, idiopathic","Paroxysmal familial ventricular fibrillation","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN5A","Ventricular tachycardia","Ventricular tachycardia","Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Cardiomyopathy, Dilated, 1E:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Heart block, progressive familial, type 1:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Ventricular Fibrillation, Paroxysmal Familial, 1:Autosomal Dominant$Paroxysmal ventricular fibrillation:Autosomal Dominant","Atrial fibrillation:Autosomal Dominant$Brugada syndrome:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Heart Block, Nonprogressive:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant$Long QT syndrome:Autosomal Dominant$Sick sinus syndrome:Autosomal Recessive$Paroxysmal ventricular fibrillation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1517$http://www.ncbi.nlm.nih.gov/books/NBK1129$http://www.ncbi.nlm.nih.gov/books/NBK1309~600163~-","SCN5A"]
["SCN8A","Ataxia","Ataxia;Cognitive impairment with or without cerebellar ataxia","Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Epileptic encephalopathy, early infantile, 13:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6334[geneid]~-~600702~-","SCN8A"]
["SCN8A","Epileptic encephalopathy","Early myoclonic encephalopathy","Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Epileptic encephalopathy, early infantile, 13:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6334[geneid]~-~600702~-","SCN8A"]
["SCN8A","Epileptic encephalopathy, infantile","Early infantile epileptic encephalopathy with suppression bursts","Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Epileptic encephalopathy, early infantile, 13:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6334[geneid]~-~600702~-","SCN8A"]
["SCN8A","Hyperinsulinism","Hyperinsulinism","Risk","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Epileptic encephalopathy, early infantile, 13:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6334[geneid]~-~600702~-","SCN8A"]
["SCN8A","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Epileptic encephalopathy, early infantile, 13:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Cognitive impairment with or without cerebellar ataxia:Autosomal Dominant$Early infantile epileptic encephalopathy with suppression bursts:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6334[geneid]~-~600702~-","SCN8A"]
["SCN9A","Chronic non-paroxysmal neuropathic pain","Neuropathic pain","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Congenital indifference to pain","Indifference to Pain, Congenital, Autosomal Recessive","Autosomal Recessive","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Congenital indifference to pain, partial","Congenital indifference to pain","Autosomal Recessive","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Dravet syndrome","Severe myoclonic epilepsy in infancy","Modifier","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Erythermalgia, primary","Primary erythromelalgia","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Erythromelalgia","Primary erythromelalgia","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Febrile seizures","Generalized Epilepsy With Febrile Seizures Plus, 7;Febrile convulsions","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Neuropathy, hereditary sensory, type IID","Hereditary sensory neuropathy","Autosomal Recessive","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Pain, dysautonomia & acromesomelia","Pain;Dysautonomia;Acromesomelia","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Paroxysmal extreme pain disorder","Paroxysmal Extreme Pain Disorder","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Paroxysmal extreme pain disorder / Erythermalgia, primary","Paroxysmal Extreme Pain Disorder;Primary erythromelalgia","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCN9A","Small fibre neuropathy","Small fiber neuropathy","Autosomal Dominant","Generalized Epilepsy With Febrile Seizures Plus, 7:Autosomal Dominant$Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Insensitivity to pain, channelopathy-associated:Autosomal Recessive$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","Generalized Epilepsy with Febrile Seizures Plus:Autosomal Dominant$Primary erythromelalgia:Autosomal Dominant$Febrile convulsions:Autosomal Dominant$Indifference to Pain, Congenital, Autosomal Recessive:Autosomal Recessive$Paroxysmal Extreme Pain Disorder:Autosomal Dominant$Small fiber neuropathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6335[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1163~603415~-","SCN9A"]
["SCNN1A","Bronchiectasis","Bronchiectasis","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6337[geneid]~-~600228~-","SCNN1A"]
["SCNN1A","Cystic fibrosis, non-classic","Bronchiectasis","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6337[geneid]~-~600228~-","SCNN1A"]
["SCNN1A","Pseudohypoaldosteronism 1","Pseudohypoaldosteronism, type 1","Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6337[geneid]~-~600228~-","SCNN1A"]
["SCNN1B","Bronchiectasis","Bronchiectasis","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6338[geneid]~-~600760~-","SCNN1B"]
["SCNN1B","Cystic fibrosis, non-classic","Bronchiectasis","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6338[geneid]~-~600760~-","SCNN1B"]
["SCNN1B","Hypertension","Essential hypertension","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6338[geneid]~-~600760~-","SCNN1B"]
["SCNN1B","Liddle syndrome","Pseudoprimary hyperaldosteronism","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6338[geneid]~-~600760~-","SCNN1B"]
["SCNN1B","Pseudohypoaldosteronism 1","Pseudohypoaldosteronism, type 1","Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6338[geneid]~-~600760~-","SCNN1B"]
["SCNN1B","Pseudohypoaldosteronism, multi-system","Pseudohypoaldosteronism, type 1","Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6338[geneid]~-~600760~-","SCNN1B"]
["SCNN1G","Bronchiectasis","Bronchiectasis","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6340[geneid]~-~600761~-","SCNN1G"]
["SCNN1G","Hypertension","Essential hypertension","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6340[geneid]~-~600761~-","SCNN1G"]
["SCNN1G","Liddle syndrome","Pseudoprimary hyperaldosteronism","Autosomal Dominant","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6340[geneid]~-~600761~-","SCNN1G"]
["SCNN1G","Pseudohypoaldosteronism 1","Pseudohypoaldosteronism, type 1","Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism, type I:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Recessive","Bronchiectasis:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6340[geneid]~-~600761~-","SCNN1G"]
["SCO1","Cytochrome c oxidase deficiency","Cytochrome-c oxidase deficiency;Disorder of brain;Hepatic failure","Autosomal Recessive","Hepatic failure, early onset, and neurologic disorder:Autosomal Recessive","Hepatic failure, early onset, and neurologic disorder:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6341[geneid]~-~603644~-","SCO1"]
["SCO2","Cardioencephalomyopathy, early-onset","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency","Autosomal Recessive","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia 6:Autosomal Dominant$Myopia:Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9997[geneid]~-~604272~-","SCO2"]
["SCO2","Cardioencephalomyopathy, fatal infantile","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency","Autosomal Recessive","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia 6:Autosomal Dominant$Myopia:Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9997[geneid]~-~604272~-","SCO2"]
["SCO2","Cytochrome c oxidase deficiency","Cytochrome-c oxidase deficiency","Autosomal Recessive","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia 6:Autosomal Dominant$Myopia:Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9997[geneid]~-~604272~-","SCO2"]
["SCO2","Hyperthermia, fatal infantile","Hyperthermia in newborn","Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia 6:Autosomal Dominant$Myopia:Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9997[geneid]~-~604272~-","SCO2"]
["SCO2","Myopia 6","Myopia 6","Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia 6:Autosomal Dominant$Myopia:Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9997[geneid]~-~604272~-","SCO2"]
["SCO2","Myopia, high-grade","Severe myopia","Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia 6:Autosomal Dominant$Myopia:Autosomal Dominant","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency:Autosomal Recessive$Myopia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9997[geneid]~-~604272~-","SCO2"]
["SCP2","Autism","Autistic Disorder","Risk","Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient:Autosomal Recessive","Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10106[geneid]~-~608711~-","CTDSP2"]
["SCP2","SCP2 deficiency","Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient","Autosomal Recessive","Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient:Autosomal Recessive","Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10106[geneid]~-~608711~-","CTDSP2"]
["SCRIB","Autism","Autistic Disorder","Risk","Spina Bifida:Risk","Spina Bifida:Risk","HIGH","-~-~607733~-","SCRIB"]
["SCRIB","Craniorachischisis","Craniorachischisis","Autosomal Recessive","Spina Bifida:Risk","Spina Bifida:Risk","HIGH","-~-~607733~-","SCRIB"]
["SCRIB","Spina bifida","Spina Bifida","Risk","Spina Bifida:Risk","Spina Bifida:Risk","HIGH","-~-~607733~-","SCRIB"]
["SCUBE2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611747~-","SCUBE2"]
["SDCCAG8","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Recessive","Senior-Loken syndrome 7:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1363~613524~-","SDCCAG8"]
["SDCCAG8","Retinal-renal ciliopathy","Senior-Loken syndrome 7","Autosomal Recessive","Senior-Loken syndrome 7:Autosomal Recessive$Renal dysplasia and retinal aplasia:Autosomal Recessive","Renal dysplasia and retinal aplasia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1363~613524~-","SDCCAG8"]
["SDHA","Cardiomyopathy & leukodystrophy","Cardiomyopathy;Leukodystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHA","Complex II deficiency","Succinate-coenzyme Q reductase deficiency;Dilated cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHA","Gastrointestinal tumour, stromal","Gastrointestinal stromal tumor","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHA","Leigh syndrome","Leigh's disease","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHA","Optic atrophy, ataxia, myopathy","Optic atrophy;Ataxia;Myopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHA","Paraganglioma","Paraganglioma","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHA","Paraganglioma & phaeochromocytoma","Paraganglioma;Pheochromocytoma","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHA","Pituitary adenoma & pheochromocytoma/paraganglioma","Pituitary Adenoma;Paraganglioma;Pheochromocytoma","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Recessive$Leigh's disease:Autosomal Recessive$Mitochondrial Complex II Deficiency:Autosomal Recessive$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6389[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~600857~-","SDHA"]
["SDHAF1","Leukoencephalopathy, infantile","Brain Small Vessel Disease with Hemorrhage;Leukoencephalopathy","Autosomal Recessive","Mitochondrial Complex II Deficiency:Autosomal Recessive","Mitochondrial Complex II Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=644096[geneid]~-~612848~-","SDHAF1"]
["SDHAF2","Paraganglioma","Paraganglioma","Autosomal Dominant","Paraganglioma:Autosomal Dominant","Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54949[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~613019~-","SDHAF2"]
["SDHB","Cowden syndrome, modifier of","Cowden syndrome","Modifier","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Cowden-like syndrome","Cowden syndrome","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Gastrointestinal tumour, stromal","Gastrointestinal stromal tumor","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Glomus tumour","Glomus tumor","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Hypotonia & leukodystrophy","Hypotonia;Leukodystrophy","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Medullary thyroid carcinoma","Medullary thyroid carcinoma","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Paraganglioma","Paraganglioma","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Paraganglioma/phaeochromocytoma","Paraganglioma;Pheochromocytoma","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Phaeochromocytoma and paraganglioma","Paraganglioma;Pheochromocytoma","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHB","Renal cell carcinoma","Clear cell carcinoma of kidney","Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Cowden syndrome:Autosomal Dominant$Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6390[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~185470~-","SDHB"]
["SDHC","Cowden-like syndrome","Cowden syndrome","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6391[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602413~-","SDHC"]
["SDHC","Gastrointestinal tumour, stromal","Gastrointestinal stromal tumor","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6391[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602413~-","SDHC"]
["SDHC","Paraganglioma","Paraganglioma","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6391[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602413~-","SDHC"]
["SDHC","Paraganglioma, Autosomal Dominant 3","Paraganglioma","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6391[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602413~-","SDHC"]
["SDHC","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6391[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602413~-","SDHC"]
["SDHC","Phaeochromocytoma and paraganglioma","Pheochromocytoma;Paraganglioma","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6391[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602413~-","SDHC"]
["SDHC","Phaeochromocytoma-paraganglioma syndrome","Pheochromocytoma;Paraganglioma","Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","Gastrointestinal stromal tumor:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6391[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602413~-","SDHC"]
["SDHD","Carcinoid tumor of intestine","Carcinoid tumor of intestine","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SDHD","Cowden-like syndrome","Cowden syndrome","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SDHD","Gastrointestinal tumour, stromal","Gastrointestinal stromal tumor","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SDHD","Paraganglioma","Paraganglioma","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SDHD","Paraganglioma & adenoma","Extra-adrenal paraganglioma","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SDHD","Paraganglioma and phaeochromocytoma","Pheochromocytoma;Paraganglioma","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SDHD","Paraganglioma/phaeochromocytoma","Pheochromocytoma;Paraganglioma","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SDHD","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","Carcinoid tumor of intestine:Autosomal Dominant$Cowden syndrome:Autosomal Dominant$Merkel cell carcinoma:Autosomal Dominant$Carney-Stratakis Syndrome:Autosomal Dominant$Paraganglioma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6392[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1548~602690~-","SDHD"]
["SEC23A","Cranio-lenticulo-sutural dysplasia","Craniolenticulosutural Dysplasia","Autosomal Recessive","Craniolenticulosutural Dysplasia:Autosomal Recessive","Craniolenticulosutural Dysplasia:Autosomal Recessive","HIGH","-~-~610511~-","SEC23A"]
["SEC23B","Anaemia","Anemia","Autosomal Recessive","Congenital dyserythropoietic anemia, type II:Autosomal Recessive$Congenital dyserythropoietic anemia:Autosomal Recessive","Congenital dyserythropoietic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10483[geneid]~-~610512~-","SEC23B"]
["SEC23B","Anaemia, dyserythropoietic congenital, type II","Congenital dyserythropoietic anemia, type II","Autosomal Recessive","Congenital dyserythropoietic anemia, type II:Autosomal Recessive$Congenital dyserythropoietic anemia:Autosomal Recessive","Congenital dyserythropoietic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10483[geneid]~-~610512~-","SEC23B"]
["SEC24B","Neural tube defects","Neural tube defect","Risk",null,null,"HIGH","-~-~607184~-","SEC24B"]
["SEC63","Polycystic liver disease","Congenital cystic disease of liver","Autosomal Dominant","Polycystic liver disease:Autosomal Dominant","Polycystic liver disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11231[geneid]~-~608648~-","SEC63"]
["SECISBP2","Abnormal thyroid hormone metabolism","Thyroid Hormone Metabolism, Abnormal","Autosomal Recessive","Thyroid Hormone Metabolism, Abnormal:Autosomal Recessive","Thyroid Hormone Metabolism, Abnormal:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79048[geneid]~-~607693~-","SECISBP2"]
["SECISBP2","Growth retardation, low serum selenium & thyroid abnormalities","Growth retardation;Serum selenium level, low;Thyroid Hormone Metabolism, Abnormal","Autosomal Recessive","Thyroid Hormone Metabolism, Abnormal:Autosomal Recessive","Thyroid Hormone Metabolism, Abnormal:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79048[geneid]~-~607693~-","SECISBP2"]
["SECISBP2","Selenoprotein-related disease","Thyroid Hormone Metabolism, Abnormal","Autosomal Recessive","Thyroid Hormone Metabolism, Abnormal:Autosomal Recessive","Thyroid Hormone Metabolism, Abnormal:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79048[geneid]~-~607693~-","SECISBP2"]
["SELPLG","Lower platelet binding capacity","Cerebrovascular disease","Decreased Risk",null,null,"HIGH","-~-~600738~-","SELPLG"]
["SEMA3A","Hirschsprung disease","Hirschsprung's disease","Risk","Hypogonadism with anosmia:Risk$Kallmann Syndrome:Risk$Hypogonadotropic hypogonadism:Risk","Hypogonadism with anosmia:Risk$Hypogonadotropic hypogonadism:Risk","HIGH","-~-~603961~-","SEMA3A"]
["SEMA3A","Kallmann syndrome","Hypogonadism with anosmia","Risk","Hypogonadism with anosmia:Risk$Kallmann Syndrome:Risk$Hypogonadotropic hypogonadism:Risk","Hypogonadism with anosmia:Risk$Hypogonadotropic hypogonadism:Risk","HIGH","-~-~603961~-","SEMA3A"]
["SEMA3D","Hirschsprung disease","Hirschsprung's disease","Risk",null,null,"HIGH","-~-~609907~-","SEMA3D"]
["SEMA3D","Total anomalous pulmonary venous connection","Total anomalous pulmonary venous return","Risk",null,null,"HIGH","-~-~609907~-","SEMA3D"]
["SEMA3E","CHARGE syndrome","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association","Autosomal Dominant","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$CHARGE syndrome:Autosomal Dominant","Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association:Autosomal Dominant$CHARGE syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9723[geneid]~-~608166~-","SEMA3E"]
["SEMA4A","Cone-Rod Dystrophy 10","Cone-Rod Dystrophy 10","Autosomal Recessive","Cone-Rod Dystrophy 10:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis Pigmentosa 35:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~607292~-","SEMA4A"]
["SEMA4A","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Cone-Rod Dystrophy 10:Autosomal Recessive$Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis Pigmentosa 35:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Progressive cone-rod dystrophy:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64218[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~607292~-","SEMA4A"]
["SEMA4G","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57715[geneid]~-~-~-","SEMA4G"]
["SEMA6D","Developmental language disorder","Developmental language disorder","Autosomal Dominant",null,null,"HIGH","-~-~609295~-","SEMA6D"]
["SEMA7A","JMH blood group variation","Blood group antigen JMH","Risk","Blood group, John-Milton-Hagen system:Risk","Blood group, John-Milton-Hagen system:Risk","HIGH","-~-~607961~-","SEMA7A"]
["SEPN1","Multiminicore disease","Eichsfeld type congenital muscular dystrophy","Autosomal Recessive","Eichsfeld type congenital muscular dystrophy:Autosomal Recessive$Congenital myopathy with fibre type disproportion:Autosomal Dominant","Eichsfeld type congenital muscular dystrophy:Autosomal Recessive$Congenital myopathy with fibre type disproportion:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290~606210~-","SEPN1"]
["SEPN1","Rigid spine muscular dystrophy 1","Eichsfeld type congenital muscular dystrophy","Autosomal Recessive","Eichsfeld type congenital muscular dystrophy:Autosomal Recessive$Congenital myopathy with fibre type disproportion:Autosomal Dominant","Eichsfeld type congenital muscular dystrophy:Autosomal Recessive$Congenital myopathy with fibre type disproportion:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290~606210~-","SEPN1"]
["SEPN1","SEPN-related myopathy","Eichsfeld type congenital muscular dystrophy","Autosomal Recessive","Eichsfeld type congenital muscular dystrophy:Autosomal Recessive$Congenital myopathy with fibre type disproportion:Autosomal Dominant","Eichsfeld type congenital muscular dystrophy:Autosomal Recessive$Congenital myopathy with fibre type disproportion:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57190[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1291$http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1290~606210~-","SEPN1"]
["SEPSECS","Progressive cerebello-cerebral atrophy","Congenital pontocerebellar hypoplasia","Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51091[geneid]~-~613009~-","SEPSECS"]
["SERAC1","3-methylglutaconic aciduria & Leigh syndrome","3-methylglutaconic aciduria;Leigh's disease","Autosomal Recessive","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome:Autosomal Recessive","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome:Autosomal Recessive","HIGH","-~-~614725~-","SERAC1"]
["SERAC1","3-methylglutaconic aciduria, impaired OXPHOS, deafness, encephalopathy, dystonia & Leigh-like syndrome","3-methylglutaconic aciduria;Deafness;Encephalopathy;Dystonia","Autosomal Recessive","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome:Autosomal Recessive","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome:Autosomal Recessive","HIGH","-~-~614725~-","SERAC1"]
["SERPINA1","Antitrypsin alpha 1 deficiency","Alpha-1-antitrypsin deficiency;Emphysema;Familial hemorrhagic diathesis","Autosomal Recessive","Alpha-1-antitrypsin deficiency:Autosomal Recessive$Emphysema:Autosomal Recessive$Hemorrhagic diathesis:Autosomal Recessive","Alpha-1-antitrypsin deficiency:Autosomal Recessive$Emphysema:Autosomal Recessive$Hemorrhagic diathesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5265[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1519~107400~-","SERPINA1"]
["SERPINA1","Antitrypsin M2 variant","NULL","No disease association PMID 2339709","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5265[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1519~107400~-","SERPINA1"]
["SERPINA1","Asthma","Alpha-1-antitrypsin deficiency","Autosomal Recessive","Alpha-1-antitrypsin deficiency:Autosomal Recessive$Emphysema:Autosomal Recessive$Hemorrhagic diathesis:Autosomal Recessive","Alpha-1-antitrypsin deficiency:Autosomal Recessive$Emphysema:Autosomal Recessive$Hemorrhagic diathesis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5265[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1519~107400~-","SERPINA1"]
["SERPINA10","Venous thromboembolic disease","Thromboembolism of vein","Autosomal Dominant","Thromboembolism of vein:Autosomal Dominant","Thromboembolism of vein:Autosomal Dominant","HIGH","-~-~605271~-","SERPINA10"]
["SERPINA3","Increased plasma ACT concentration","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~107280~-","SERPINA3"]
["SERPINA3","Obstructive lung disease","Chronic obstructive lung disease","Autosomal Dominant","Antichymotrypsin deficiency-alpha-1:Autosomal Dominant$Cerebrovascular disease, occlusive:Autosomal Dominant","Antichymotrypsin deficiency-alpha-1:Autosomal Dominant$Cerebrovascular disease, occlusive:Autosomal Dominant","HIGH","-~-~107280~-","SERPINA3"]
["SERPINA3","Occlusive cerebrovascular disease","Cerebrovascular disease","Autosomal Dominant","Antichymotrypsin deficiency-alpha-1:Autosomal Dominant$Cerebrovascular disease, occlusive:Autosomal Dominant","Antichymotrypsin deficiency-alpha-1:Autosomal Dominant$Cerebrovascular disease, occlusive:Autosomal Dominant","HIGH","-~-~107280~-","SERPINA3"]
["SERPINA6","Corticosteroid-binding globulin deficiency","Corticosteroid-Binding Globulin Deficiency","Autosomal Dominant","Corticosteroid-Binding Globulin Deficiency:Autosomal Dominant$Corticosteroid-Binding Globulin Deficiency:Autosomal Recessive","Corticosteroid-Binding Globulin Deficiency:Autosomal Dominant$Corticosteroid-Binding Globulin Deficiency:Autosomal Recessive","HIGH","-~-~122500~-","SERPINA6"]
["SERPINA6","Corticosteroid-binding globulin deficiency","Corticosteroid-Binding Globulin Deficiency","Autosomal Recessive","Corticosteroid-Binding Globulin Deficiency:Autosomal Dominant$Corticosteroid-Binding Globulin Deficiency:Autosomal Recessive","Corticosteroid-Binding Globulin Deficiency:Autosomal Dominant$Corticosteroid-Binding Globulin Deficiency:Autosomal Recessive","HIGH","-~-~122500~-","SERPINA6"]
["SERPINA6","Reduced cortisol binding capacity","Fatigue;Low blood pressure;Chronic pain","Autosomal Dominant","Corticosteroid-Binding Globulin Deficiency:Autosomal Dominant$Corticosteroid-Binding Globulin Deficiency:Autosomal Recessive","Corticosteroid-Binding Globulin Deficiency:Autosomal Dominant$Corticosteroid-Binding Globulin Deficiency:Autosomal Recessive","HIGH","-~-~122500~-","SERPINA6"]
["SERPINA7","Thyroxine-binding globulin deficiency","Thyroxine binding globulin","X-linked Dominant","Thyroxine-Binding Globulin Deficiency:X-linked","Thyroxine-Binding Globulin Deficiency:X-linked","HIGH","-~-~314200~-","SERPINA7"]
["SERPINA7","Thyroxine-binding globulin-slow variant","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~314200~-","SERPINA7"]
["SERPINB11","Non-inhibitory variant","NULL","No particular disorder associated","NULL","NULL",null,"-~-~~-","SERPINB11"]
["SERPINB4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600518~-","SERPINB4"]
["SERPINB6","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~173321~-","SERPINB6"]
["SERPINC1","Antithrombin deficiency","Antithrombin III deficiency","Autosomal Recessive","Thrombophilia:Autosomal Dominant$Antithrombin III deficiency:Autosomal Dominant$Thrombophilia:Autosomal Recessive$Antithrombin III deficiency:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Antithrombin III deficiency:Autosomal Dominant$Thrombophilia:Autosomal Recessive$Antithrombin III deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=462[geneid]~-~107300~-","SERPINC1"]
["SERPINC1","Antithrombin deficiency, type 1","Antithrombin III deficiency","Autosomal Dominant","Thrombophilia:Autosomal Dominant$Antithrombin III deficiency:Autosomal Dominant$Thrombophilia:Autosomal Recessive$Antithrombin III deficiency:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Antithrombin III deficiency:Autosomal Dominant$Thrombophilia:Autosomal Recessive$Antithrombin III deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=462[geneid]~-~107300~-","SERPINC1"]
["SERPINC1","Deep vein thrombosis","Deep venous thrombosis","Autosomal Dominant","Thrombophilia:Autosomal Dominant$Antithrombin III deficiency:Autosomal Dominant$Thrombophilia:Autosomal Recessive$Antithrombin III deficiency:Autosomal Recessive","Thrombophilia:Autosomal Dominant$Antithrombin III deficiency:Autosomal Dominant$Thrombophilia:Autosomal Recessive$Antithrombin III deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=462[geneid]~-~107300~-","SERPINC1"]
["SERPIND1","Heparin cofactor 2 deficiency","Heparin cofactor II deficiency","Autosomal Dominant","Thrombophilia:Autosomal Dominant$Heparin cofactor II deficiency:Autosomal Dominant","Thrombophilia:Autosomal Dominant$Heparin cofactor II deficiency:Autosomal Dominant","HIGH","-~-~142360~-","SERPIND1"]
["SERPINE1","Plasminogen activator inhibitor 1 deficiency","Plasminogen Activator Inhibitor-1 Deficiency","Autosomal Recessive","Plasminogen Activator Inhibitor-1 Deficiency:Autosomal Recessive","Plasminogen Activator Inhibitor-1 Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5054[geneid]~-~173360~-","SERPINE1"]
["SERPINF1","Osteogenesis imperfecta","Osteogenesis Imperfecta","Autosomal Recessive","Osteogenesis Imperfecta, Type VI:Autosomal Recessive$Osteogenesis Imperfecta:Autosomal Recessive","Osteogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5176[geneid]~-~172860~-","SERPINF1"]
["SERPINF1","Osteogenesis imperfecta VI","Osteogenesis Imperfecta, Type VI","Autosomal Recessive","Osteogenesis Imperfecta, Type VI:Autosomal Recessive$Osteogenesis Imperfecta:Autosomal Recessive","Osteogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5176[geneid]~-~172860~-","SERPINF1"]
["SERPINF1","Osteogenesis imperfecta, Autosomal Recessive","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis Imperfecta, Type VI:Autosomal Recessive$Osteogenesis Imperfecta:Autosomal Recessive","Osteogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5176[geneid]~-~172860~-","SERPINF1"]
["SERPINF2","Antiplasmin alpha 2 deficiency","Antiplasmin Deficiency;Familial hemorrhagic diathesis","Autosomal Recessive","Antiplasmin Deficiency:Autosomal Recessive","Antiplasmin Deficiency:Autosomal Recessive","HIGH","-~-~613168~-","SERPINF2"]
["SERPING1","Angioedema, hereditary","Hereditary angioneurotic edema","Autosomal Dominant","Hereditary Angioedema Types I and II:Autosomal Dominant$Angioedema:Autosomal Dominant$Complement Component 4, Partial Deficiency Of:Autosomal Dominant","Angioedema:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=710[geneid]~-~606860~-","SERPING1"]
["SERPING1","Angioneurotic oedema","Hereditary angioneurotic edema","Autosomal Dominant","Hereditary Angioedema Types I and II:Autosomal Dominant$Angioedema:Autosomal Dominant$Complement Component 4, Partial Deficiency Of:Autosomal Dominant","Angioedema:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=710[geneid]~-~606860~-","SERPING1"]
["SERPING1","Vasculitic neuropathy","Vasculitic neuropathy","Autosomal Dominant","Hereditary Angioedema Types I and II:Autosomal Dominant$Angioedema:Autosomal Dominant$Complement Component 4, Partial Deficiency Of:Autosomal Dominant","Angioedema:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=710[geneid]~-~606860~-","SERPING1"]
["SERPINH1","Osteogenesis imperfecta","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta, type X:Autosomal Recessive$Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=871[geneid]~-~600943~-","SERPINH1"]
["SERPINI1","Dementia, familial","Familial encephalopathy with neuroserpin inclusion bodies","Autosomal Dominant","Familial encephalopathy with neuroserpin inclusion bodies:Autosomal Dominant$Encephalopathy:Autosomal Dominant","Encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5274[geneid]~-~602445~-","SERPINI1"]
["SERPINI1","Epilepticus of slow-wave sleep","Epilepsy with continuous spike wave during slow-wave sleep","Autosomal Dominant","Familial encephalopathy with neuroserpin inclusion bodies:Autosomal Dominant$Encephalopathy:Autosomal Dominant","Encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5274[geneid]~-~602445~-","SERPINI1"]
["SERPINI1","Myoclonus epilepsy with declining mental status","Myoclonic seizure","Autosomal Dominant","Familial encephalopathy with neuroserpin inclusion bodies:Autosomal Dominant$Encephalopathy:Autosomal Dominant","Encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5274[geneid]~-~602445~-","SERPINI1"]
["SerRSmt","Hyperuricemia, pulmonary hypertension, renal failure & alkalosis","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis","Autosomal Recessive","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis:Autosomal Recessive","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54938[geneid]~-~612804~-","SARS2"]
["SERTAD1","Altered p53 transactivation","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29950[geneid]~-~-~-","SERTAD1"]
["SESN2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607767~-","SESN2"]
["SETBP1","Autism","Autistic Disorder","Risk","Schinzel-Giedion syndrome:Autosomal Dominant","Schinzel-Giedion syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26040[geneid]~-~611060~-","SETBP1"]
["SETBP1","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Schinzel-Giedion syndrome:Autosomal Dominant","Schinzel-Giedion syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26040[geneid]~-~611060~-","SETBP1"]
["SETBP1","Schinzel-Giedion syndrome","Schinzel-Giedion syndrome","Autosomal Dominant","Schinzel-Giedion syndrome:Autosomal Dominant","Schinzel-Giedion syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26040[geneid]~-~611060~-","SETBP1"]
["SETD2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612778~-","SETD2"]
["SETD5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk$Intellectual disability:Risk","Autistic Disorder:Risk$Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55209[geneid]~-~-~-","SETD5"]
["SETD5","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Autistic Disorder:Risk$Intellectual disability:Risk","Autistic Disorder:Risk$Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55209[geneid]~-~-~-","SETD5"]
["SETDB1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604396~-","SETDB1"]
["SETDB2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607865~-","SETDB2"]
["SETX","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 4, Juvenile:Autosomal Dominant$Spinocerebellar ataxia, Autosomal Recessive 1:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23064[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1154~608465~-","SETX"]
["SETX","Amyotrophic lateral sclerosis 4, juvenile","Amyotrophic Lateral Sclerosis 4, Juvenile","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 4, Juvenile:Autosomal Dominant$Spinocerebellar ataxia, Autosomal Recessive 1:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23064[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1154~608465~-","SETX"]
["SETX","Ataxia with neuropathy","Neuropathy in association with hereditary ataxia","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 4, Juvenile:Autosomal Dominant$Spinocerebellar ataxia, Autosomal Recessive 1:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23064[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1154~608465~-","SETX"]
["SETX","Ataxia-ocular apraxia 2","Spinocerebellar ataxia, Autosomal Recessive 1","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 4, Juvenile:Autosomal Dominant$Spinocerebellar ataxia, Autosomal Recessive 1:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23064[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1154~608465~-","SETX"]
["SETX","Cerebellar ataxia/tremor syndrome","Cerebellar ataxia;Congenital tremor syndrome","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 4, Juvenile:Autosomal Dominant$Spinocerebellar ataxia, Autosomal Recessive 1:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23064[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1154~608465~-","SETX"]
["SETX","Spinal muscular atrophy","Spinal muscular atrophy","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Amyotrophic Lateral Sclerosis 4, Juvenile:Autosomal Dominant$Spinocerebellar ataxia, Autosomal Recessive 1:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23064[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK1154~608465~-","SETX"]
["SEZ6","Febrile seizures","Febrile convulsion","Autosomal Dominant",null,null,null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124925[geneid]~-~-~-","SEZ6"]
["SF3B4","Nager syndrome","Nager syndrome","Autosomal Dominant","Nager syndrome:Autosomal Dominant","Nager syndrome:Autosomal Dominant","HIGH","-~-~605593~-","SF3B4"]
["SFRS12","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~-~-","SFRS12"]
["SFTPA2","Pulmonary fibrosis, idiopathic","Familial idiopathic pulmonary fibrosis","Autosomal Dominant","Idiopathic pulmonary fibrosis:Autosomal Dominant","Idiopathic pulmonary fibrosis:Autosomal Dominant","HIGH","-~-~178642~-","SFTPA2"]
["SFTPB","Pulmonary alveolar proteinosis","Pulmonary alveolar proteinosis","Autosomal Recessive","Surfactant Metabolism Dysfunction, Pulmonary, 1:Autosomal Recessive","Surfactant Metabolism Dysfunction, Pulmonary, 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6439[geneid]~-~178640~-","SFTPB"]
["SFTPB","Reduced transcription","NULL","No disease association PMID 16500948","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6439[geneid]~-~178640~-","SFTPB"]
["SFTPB","Surfactant protein B deficiency","Surfactant Metabolism Dysfunction, Pulmonary, 1","Autosomal Recessive","Surfactant Metabolism Dysfunction, Pulmonary, 1:Autosomal Recessive","Surfactant Metabolism Dysfunction, Pulmonary, 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6439[geneid]~-~178640~-","SFTPB"]
["SFTPB","Surfactant protein B deficiency, partial","Surfactant Metabolism Dysfunction, Pulmonary, 1","Autosomal Recessive","Surfactant Metabolism Dysfunction, Pulmonary, 1:Autosomal Recessive","Surfactant Metabolism Dysfunction, Pulmonary, 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6439[geneid]~-~178640~-","SFTPB"]
["SFTPC","Bronchiectasis","Bronchiectasis","Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6440[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1230~178620~-","SFTPC"]
["SFTPC","Interstitial lung disease","Surfactant Metabolism Dysfunction, Pulmonary, 2","Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6440[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1230~178620~-","SFTPC"]
["SFTPC","Pulmonary fibrosis","Fibrosis of lung","Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6440[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1230~178620~-","SFTPC"]
["SFTPC","Pulmonary fibrosis, idiopathic","Fibrosis of lung","Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6440[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1230~178620~-","SFTPC"]
["SFTPC","Respiratory failure, neonatal","Neonatal respiratory failure","Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6440[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1230~178620~-","SFTPC"]
["SFTPC","Surfactant protein C deficiency","Surfactant Metabolism Dysfunction, Pulmonary, 2","Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","Surfactant Metabolism Dysfunction, Pulmonary, 2:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6440[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1230~178620~-","SFTPC"]
["SFTPD","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~178635~-","SFTPD"]
["SGCA","Muscular dystrophy","Muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2D:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6442[geneid]~-~600119~-","SGCA"]
["SGCA","Muscular dystrophy, Duchenne-like","Limb-girdle muscular dystrophy, type 2D","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2D:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6442[geneid]~-~600119~-","SGCA"]
["SGCA","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2D:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6442[geneid]~-~600119~-","SGCA"]
["SGCA","Muscular dystrophy, limb girdle 2","Limb-girdle muscular dystrophy, type 2D","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2D:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6442[geneid]~-~600119~-","SGCA"]
["SGCA","Muscular dystrophy, limb girdle 2D","Limb-girdle muscular dystrophy, type 2D","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2D:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6442[geneid]~-~600119~-","SGCA"]
["SGCA","Muscular dystrophy, limb girdle 2D, late-onset","Limb-girdle muscular dystrophy, type 2D","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2D:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6442[geneid]~-~600119~-","SGCA"]
["SGCA","Muscular dystrophy, limb girdle, with cardiomyopathy","Limb-girdle muscular dystrophy;Cardiomyopathy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2D:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6442[geneid]~-~600119~-","SGCA"]
["SGCB","Muscular dystrophy, Duchenne","Duchenne muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2E:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6443[geneid]~-~600900~-","SGCB"]
["SGCB","Muscular dystrophy, Duchenne-like","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2E:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6443[geneid]~-~600900~-","SGCB"]
["SGCB","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2E:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6443[geneid]~-~600900~-","SGCB"]
["SGCB","Muscular dystrophy, limb girdle 2E","Limb-girdle muscular dystrophy, type 2E","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2E:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6443[geneid]~-~600900~-","SGCB"]
["SGCB","Muscular dystrophy, progressive","Hereditary progressive muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy, type 2E:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6443[geneid]~-~600900~-","SGCB"]
["SGCD","Cardiomyopathy, dilated","NULL","Negated by 19259135","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6444[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601411~-","SGCD"]
["SGCD","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Cardiomyopathy, Dilated, 1L:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy type 2F:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6444[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601411~-","SGCD"]
["SGCD","Muscular dystrophy, limb girdle 2","Limb-girdle muscular dystrophy","Autosomal Recessive","Cardiomyopathy, Dilated, 1L:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy type 2F:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6444[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601411~-","SGCD"]
["SGCD","Muscular dystrophy, limb girdle 2F","Limb-girdle muscular dystrophy type 2F","Autosomal Recessive","Cardiomyopathy, Dilated, 1L:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Limb-girdle muscular dystrophy type 2F:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6444[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601411~-","SGCD"]
["SGCE","Myoclonus dystonia","Myoclonic dystonia","Autosomal Dominant","Myoclonic dystonia:Autosomal Dominant","Myoclonic dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1414~604149~-","SGCE"]
["SGCG","Muscular dystrophy","Severe Autosomal Recessive muscular dystrophy of childhood - North African type","Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6445[geneid]~-~608896~-","SGCG"]
["SGCG","Muscular dystrophy, limb girdle","Severe Autosomal Recessive muscular dystrophy of childhood - North African type","Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6445[geneid]~-~608896~-","SGCG"]
["SGCG","Muscular dystrophy, limb girdle 2C","Severe Autosomal Recessive muscular dystrophy of childhood - North African type","Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6445[geneid]~-~608896~-","SGCG"]
["SGCG","Muscular dystrophy, limb girdle 2D","Limb-girdle muscular dystrophy, type 2D","Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Severe Autosomal Recessive muscular dystrophy of childhood - North African type:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6445[geneid]~-~608896~-","SGCG"]
["SGK1","Reduced expression","Response to hormone stimulus","Modifier",null,null,"HIGH","-~-~602958~-","SGK1"]
["SGSH","Sanfilippo syndrome A","Mucopolysaccharidosis, MPS-III-A","Autosomal Recessive","Mucopolysaccharidosis, MPS-III-A:Autosomal Recessive","Mucopolysaccharidosis, MPS-III-A:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6448[geneid]~-~605270~-","SGSH"]
["SGSM3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610440~-","SGSM3"]
["SH2B1","Obesity, severe, early-onset","Obesity","Risk",null,null,"HIGH","-~-~608937~-","SH2B1"]
["SH2B3","Erythrocytosis, idiopathic","Idiopathic erythrocytosis","Autosomal Dominant","Idiopathic erythrocytosis:Autosomal Dominant$Myelofibrosis:Autosomal Dominant$Thrombocytosis:Autosomal Dominant$Thrombocythemia:Autosomal Dominant","Idiopathic erythrocytosis:Autosomal Dominant$Myelofibrosis:Autosomal Dominant$Thrombocytosis:Autosomal Dominant","HIGH","-~-~605093~-","SH2B3"]
["SH2D1A","Haemophagocytic lymphohistiocytosis","Hemophagocytic lymphohistiocytosis","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4068[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300490~-","SH2D1A"]
["SH2D1A","Immunodeficiency syndrome, common variable","Common variable agammaglobulinemia","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4068[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300490~-","SH2D1A"]
["SH2D1A","Lymphoproliferative syndrome, X-linked","Lymphoproliferative Syndrome, X-Linked, 1","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4068[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300490~-","SH2D1A"]
["SH2D1A","Lymphoproliferative syndrome, X-linked type 1","Lymphoproliferative Syndrome, X-Linked, 1","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 1:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4068[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300490~-","SH2D1A"]
["SH3BP2","Cherubism","Fibrous dysplasia of jaw","Autosomal Dominant","Fibrous dysplasia of jaw:Autosomal Dominant","Fibrous dysplasia of jaw:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6452[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1137~602104~-","SH3BP2"]
["SH3GL1","Adolescent idiopathic scoliosis","Adolescent idiopathic scoliosis","Risk","Acute myeloid leukemia, disease:Autosomal Dominant","Acute myeloid leukemia, disease:Autosomal Dominant","HIGH","-~-~601768~-","SH3GL1"]
["SH3PXD2B","Axenfeld-Rieger anomaly","NULL","No significant association with disease PMID 22509100","NULL","NULL","HIGH","-~-~613293~-","SH3PXD2B"]
["SH3PXD2B","Frank-Ter Haar syndrome","Ter Haar syndrome","Autosomal Recessive","Ter Haar syndrome:Autosomal Recessive","Ter Haar syndrome:Autosomal Recessive","HIGH","-~-~613293~-","SH3PXD2B"]
["SH3PXD2B","Glaucoma, primary congenital","Primary congenital glaucoma","Risk","Ter Haar syndrome:Autosomal Recessive","Ter Haar syndrome:Autosomal Recessive","HIGH","-~-~613293~-","SH3PXD2B"]
["SH3PXD2B","Glaucoma, primary open angle","Primary open angle glaucoma","Risk","Ter Haar syndrome:Autosomal Recessive","Ter Haar syndrome:Autosomal Recessive","HIGH","-~-~613293~-","SH3PXD2B"]
["SH3TC2","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4C:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79628[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1340~608206~-","SH3TC2"]
["SH3TC2","Charcot-Marie-Tooth disease 1","Hereditary Motor and Sensory Neuropathy Type I","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4C:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79628[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1340~608206~-","SH3TC2"]
["SH3TC2","Charcot-Marie-Tooth disease 4C","Charcot-Marie-Tooth disease, Type 4C","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4C:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79628[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1340~608206~-","SH3TC2"]
["SH3TC2","Hereditary motor & sensory neuropathy","Hereditary motor and sensory neuropathy","Autosomal Recessive","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4C:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79628[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1340~608206~-","SH3TC2"]
["SH3TC2","Mononeuropathy of the median nerve, mild","Mononeuropathy of the median nerve, mild","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Charcot-Marie-Tooth disease, Type 4C:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Recessive$Mononeuropathy of the median nerve, mild:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79628[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1468$http://www.ncbi.nlm.nih.gov/books/NBK1340~608206~-","SH3TC2"]
["SHANK3","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1442$http://www.ncbi.nlm.nih.gov/books/NBK1198~606230~-","SHANK3"]
["SHANK3","Intellectual disability","Intellectual Disability","Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1442$http://www.ncbi.nlm.nih.gov/books/NBK1198~606230~-","SHANK3"]
["SHANK3","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1442$http://www.ncbi.nlm.nih.gov/books/NBK1198~606230~-","SHANK3"]
["SHANK3","Phelan-McDermid Syndrome","Phelan-McDermid Syndrome","Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1442$http://www.ncbi.nlm.nih.gov/books/NBK1198~606230~-","SHANK3"]
["SHANK3","Schizophrenia","Schizophrenia","Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","Phelan-McDermid Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1442$http://www.ncbi.nlm.nih.gov/books/NBK1198~606230~-","SHANK3"]
["SHBG","Hyperandrogenism","Hyperandrogenization syndrome;Disorder of endocrine ovary","Autosomal Recessive",null,null,"HIGH","-~-~182205~-","SHBG"]
["SHH","Holoprosencephaly","Holoprosencephaly sequence","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Interhemispheric fusion, single nostril nose","Focal interhemispheric fusion;Single naris","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Microphthalmia, Isolated, with Coloboma 5","Microphthalmia, Isolated, with Coloboma 5","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Pituitary hormone deficiency, combined","Pituitary Hormone Deficiency, Combined, 3","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Pituitary hypoplasia","Pituitary gland hypoplasia","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Poly / syndactyly","Radial polydactyly","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Preaxial polydactyly, triphalangeal thumb & radial ray deficiency","Triphalangeal thumb;Radial polydactyly","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Schizencephaly","Schizencephaly","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Solitary median maxillary central incisor","Single upper central incisor","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Triphalangeal thumb","Triphalangeal thumb","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Triphalangeal thumb, pre & post-axial polydactyly, & syndactyly","Triphalangeal thumb;Radial polydactyly;Syndactyly","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Triphalangeal thumb;Radial polydactyly","Triphalangeal thumb;Radial polydactyly","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHH","Werner mesomelic syndrome","Congenital anomaly of limb","Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Holoprosencephaly 3:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Microphthalmia, Isolated, with Coloboma 5:Autosomal Dominant$Schizencephaly:Autosomal Dominant$Single upper central incisor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6469[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~600725~-","SHH"]
["SHMT1","Neural tube defect","NULL","Negated by PMID 11386852","NULL","NULL","HIGH","-~-~182144~-","SHMT1"]
["SHOC2","Noonan-like syndrome with loose anagen hair","Noonan-Like Syndrome With Loose Anagen Hair","Autosomal Dominant","Noonan-Like Syndrome With Loose Anagen Hair:Autosomal Dominant","Noonan-Like Syndrome With Loose Anagen Hair:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8036[geneid]~-~602775~-","SHOC2"]
["SHOX","Dyschondrosteosis","Leri-Weill dyschondrosteosis","PseudoAutosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1215~400020~-","SHOX"]
["SHOX","Langer mesomelic dysplasia","Langer mesomelic dysplasia syndrome","PseudoAutosomal Recessive","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1215~400020~-","SHOX"]
["SHOX","Leri-Weill dyschondrosteosis","Leri-Weill dyschondrosteosis","PseudoAutosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1215~400020~-","SHOX"]
["SHOX","Madelung deformity","Madelung's deformity","PseudoAutosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1215~400020~-","SHOX"]
["SHOX","Short stature","Familial short stature","PseudoAutosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","Langer mesomelic dysplasia syndrome:Autosomal Recessive$Leri-Weill dyschondrosteosis:Autosomal Dominant$Idiopathic short stature:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1215~400020~-","SHOX"]
["SHROOM3","Heterotaxy","Situs ambiguus","Autosomal Recessive",null,null,"HIGH","-~-~604570~-","SHROOM3"]
["SHROOM4","Mental retardation, X-linked","Stocco dos Santos syndrome","X-linked Recessive","Stocco dos Santos syndrome:X-linked Recessive","Stocco dos Santos syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57477[geneid]~-~300579~-","SHROOM4"]
["SI","Sucrase isomaltase deficiency","Sucrase-isomaltase deficiency","Autosomal Recessive","Sucrase-isomaltase deficiency:Autosomal Recessive","Sucrase-isomaltase deficiency:Autosomal Recessive","HIGH","-~-~609845~-","SI"]
["SIAE","Autoimmune disease","Autoimmune disease","Autosomal Dominant","Autoimmune disease:Autosomal Dominant","Autoimmune disease:Autosomal Dominant","HIGH","-~-~610079~-","SIAE"]
["SIAE","Primary biliary cirrhosis","Primary biliary cirrhosis","Risk","Autoimmune disease:Autosomal Dominant","Autoimmune disease:Autosomal Dominant","HIGH","-~-~610079~-","SIAE"]
["SIGMAR1","Amyotrophic lateral sclerosis, juvenile","Amyotrophic lateral sclerosis 16, juvenile;Amyotrophic lateral sclerosis","Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Amyotrophic lateral sclerosis 16, juvenile:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Amyotrophic lateral sclerosis 16, juvenile:Autosomal Recessive","HIGH","-~-~601978~-","SIGMAR1"]
["SIGMAR1","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Amyotrophic lateral sclerosis 16, juvenile:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Amyotrophic lateral sclerosis 16, juvenile:Autosomal Recessive","HIGH","-~-~601978~-","SIGMAR1"]
["SIGMAR1","Frontotemporal lobar degeneration - motor neuron disease","Frontotemporal Lobar Degeneration;Motor neuron disease","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Recessive$Amyotrophic lateral sclerosis 16, juvenile:Autosomal Recessive","Amyotrophic lateral sclerosis:Autosomal Recessive$Amyotrophic lateral sclerosis 16, juvenile:Autosomal Recessive","HIGH","-~-~601978~-","SIGMAR1"]
["SIL1","Marinesco-Sjogren syndrome","Marinesco-Sjogren syndrome","Autosomal Recessive","Marinesco-Sjogren syndrome:Autosomal Recessive","Marinesco-Sjogren syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64374[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1192~608005~-","SIL1"]
["SIM1","Obesity","Morbid obesity","Autosomal Dominant","Morbid obesity:Autosomal Dominant","Morbid obesity:Autosomal Dominant","HIGH","-~-~603128~-","SIM1"]
["SIM1","Obesity with Prader-Willi syndrome","Obesity;Prader-Willi syndrome","Autosomal Dominant","Morbid obesity:Autosomal Dominant","Morbid obesity:Autosomal Dominant","HIGH","-~-~603128~-","SIM1"]
["SIRT1","Diabetes, type 1","Diabetes mellitus type 1","Risk",null,null,"HIGH","-~-~604479~-","SIRT1"]
["SIRT1","Myocardial infarction","Myocardial infarction","Autosomal Dominant",null,null,"HIGH","-~-~604479~-","SIRT1"]
["SIRT1","Parkinson disease","Parkinson's disease","Autosomal Dominant",null,null,"HIGH","-~-~604479~-","SIRT1"]
["SIRT1","Reduced nutrient-withdrawal activation","Metabolic disease","Modifier",null,null,"HIGH","-~-~604479~-","SIRT1"]
["SIRT1","Ventricular septal defect","Ventricular septal defect","Autosomal Dominant",null,null,"HIGH","-~-~604479~-","SIRT1"]
["SIX1","Branchio-otic syndrome","Branchiootic Syndrome 3","Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness, Autosomal Dominant 23:Autosomal Dominant$Deafness:Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601205~-","SIX1"]
["SIX1","Branchio-otic-renal syndrome","Branchiootic Syndrome 3","Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness, Autosomal Dominant 23:Autosomal Dominant$Deafness:Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601205~-","SIX1"]
["SIX1","Hearing impairment","Deafness","Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness, Autosomal Dominant 23:Autosomal Dominant$Deafness:Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601205~-","SIX1"]
["SIX1","Renal hypodysplasia","Renal dysplasia","Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness, Autosomal Dominant 23:Autosomal Dominant$Deafness:Autosomal Dominant","Brachiootic syndrome 3:Autosomal Dominant$Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~601205~-","SIX1"]
["SIX2","Renal hypodysplasia","Renal dysplasia","Autosomal Dominant",null,null,"HIGH","-~-~604994~-","SIX2"]
["SIX3","Holoprosencephaly","Holoprosencephaly 2","Autosomal Dominant","Holoprosencephaly 2:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant$Schizensephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Schizensephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6496[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1530~603714~-","SIX3"]
["SIX3","Schizencephaly","Schizencephaly","Autosomal Dominant","Holoprosencephaly 2:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant$Schizensephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Schizensephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6496[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1530~603714~-","SIX3"]
["SIX3","Solitary median maxillary central incisor","Single upper central incisor","Autosomal Dominant","Holoprosencephaly 2:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant$Schizensephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant$Schizensephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6496[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1530~603714~-","SIX3"]
["SIX5","Branchio-oto-renal syndrome","Melnick-Fraser syndrome;Branchiootorenal syndrome 2","Autosomal Dominant","Branchiootorenal syndrome 2:Autosomal Dominant$Melnick-Fraser syndrome:Autosomal Dominant","Melnick-Fraser syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=147912[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1380~600963~-","SIX5"]
["SIX6","Anophthalmia/microphthalmia","Microphthalmia, Isolated, with Cataract 2","Autosomal Dominant","Microphthalmia, Isolated, with Cataract 2:Autosomal Recessive","Microphthalmia, Isolated, with Cataract 2:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1378~606326~-","SIX6"]
["SKI","Cleft lip","Shprintzen syndrome","Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1277~164780~-","SKI"]
["SKI","Shprintzen syndrome","Shprintzen syndrome","Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1277~164780~-","SKI"]
["SKI","Shprintzen-Goldberg syndrome","Shprintzen syndrome","Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1277~164780~-","SKI"]
["SKI","Shprintzen-Goldberg syndrome with aortic aneurysm","Shprintzen syndrome;Aortic Aneurysm","Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","Shprintzen syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1277~164780~-","SKI"]
["SKIV2L","Trichohepatoenteric syndrome","Trichohepatoenteric Syndrome","Autosomal Recessive","Trichohepatoenteric Syndrome:Autosomal Recessive","Trichohepatoenteric Syndrome:Autosomal Recessive","HIGH","-~-~600478~-","SKIV2L"]
["SLBP","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~602422~-","SLBP"]
["SLC10A1","Altered substrate uptake","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~182396~-","SLC10A1"]
["SLC10A2","Bile acid malabsorption, primary","Bile Acid Malabsorption, Primary","Autosomal Recessive","Bile Acid Malabsorption, Primary:Autosomal Recessive","Bile Acid Malabsorption, Primary:Autosomal Recessive","HIGH","-~-~601295~-","SLC10A2"]
["SLC10A2","Crohn's disease","Crohn's disease","Autosomal Dominant","Bile Acid Malabsorption, Primary:Autosomal Recessive","Bile Acid Malabsorption, Primary:Autosomal Recessive","HIGH","-~-~601295~-","SLC10A2"]
["SLC10A2","Hypertriglyceridaemia","NULL","No significant association PMID 11742882","NULL","NULL","HIGH","-~-~601295~-","SLC10A2"]
["SLC10A2","Impaired taurocholate transport","Bile Acid Malabsorption, Primary","Autosomal Recessive","Bile Acid Malabsorption, Primary:Autosomal Recessive","Bile Acid Malabsorption, Primary:Autosomal Recessive","HIGH","-~-~601295~-","SLC10A2"]
["SLC11A2","Anaemia, hypochromic microcytic","Microcytic hypochromic anemia","Autosomal Recessive","Microcytic hypochromic anemia:Autosomal Recessive","Microcytic hypochromic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4891[geneid]~-~600523~-","SLC11A2"]
["SLC11A2","Haemochromatosis","NULL","No significant association PMID 9642100","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4891[geneid]~-~600523~-","SLC11A2"]
["SLC11A2","Microcytic anaemia","Microcytic anemia","Autosomal Recessive","Microcytic hypochromic anemia:Autosomal Recessive","Microcytic hypochromic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4891[geneid]~-~600523~-","SLC11A2"]
["SLC11A2","Microcytic anaemia & iron overload","Microcytic anemia;Iron overload","Autosomal Recessive","Microcytic hypochromic anemia:Autosomal Recessive","Microcytic hypochromic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4891[geneid]~-~600523~-","SLC11A2"]
["SLC12A1","Bartter syndrome","Bartter syndrome, antenatal type 1","Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6557[geneid]~-~600839~-","SLC12A1"]
["SLC12A1","Bartter syndrome, antenatal","Bartter syndrome, antenatal type 1","Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6557[geneid]~-~600839~-","SLC12A1"]
["SLC12A1","Bartter syndrome, type I","Bartter syndrome, antenatal type 1","Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6557[geneid]~-~600839~-","SLC12A1"]
["SLC12A1","Reduced blood pressure","Decreased blood pressure","Autosomal Dominant","Bartter syndrome, antenatal type 1:Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6557[geneid]~-~600839~-","SLC12A1"]
["SLC12A1","Salt-losing tubulopathy","Salt-losing nephropathy","Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","Bartter syndrome, antenatal type 1:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6557[geneid]~-~600839~-","SLC12A1"]
["SLC12A3","Gitelman syndrome","Familial hypokalemia-hypomagnesemia","Autosomal Recessive","Familial hypokalemia-hypomagnesemia:Autosomal Recessive","Familial hypokalemia-hypomagnesemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6559[geneid]~-~600968~-","SLC12A3"]
["SLC12A3","Reduced blood pressure","Decreased blood pressure","Autosomal Dominant","Familial hypokalemia-hypomagnesemia:Autosomal Recessive","Familial hypokalemia-hypomagnesemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6559[geneid]~-~600968~-","SLC12A3"]
["SLC12A3","Salt-losing tubulopathy","Salt-losing nephropathy","Autosomal Recessive","Familial hypokalemia-hypomagnesemia:Autosomal Recessive","Familial hypokalemia-hypomagnesemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6559[geneid]~-~600968~-","SLC12A3"]
["SLC12A6","Andermann syndrome","Corpus callosum agenesis neuronopathy","Autosomal Recessive","Corpus callosum agenesis neuronopathy:Autosomal Recessive","Corpus callosum agenesis neuronopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9990[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1372~604878~-","SLC12A6"]
["SLC12A6","Motor & sensory neuropathy and corpus callosum agenesis","Corpus callosum agenesis neuronopathy","Autosomal Recessive","Corpus callosum agenesis neuronopathy:Autosomal Recessive","Corpus callosum agenesis neuronopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9990[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1372~604878~-","SLC12A6"]
["SLC12A6","Peripheral neuropathy and corpus callosum agenesis","Corpus callosum agenesis neuronopathy","Autosomal Recessive","Corpus callosum agenesis neuronopathy:Autosomal Recessive","Corpus callosum agenesis neuronopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9990[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1372~604878~-","SLC12A6"]
["SLC13A2","Altered substrate specificity","NULL","In vitro study only PMID 20610529. No particular disorder associated","NULL","NULL","HIGH","-~-~604148~-","SLC13A2"]
["SLC14A1","JK-null variant","Jk(a-b-) phenotype","Autosomal Recessive","Kidd blood group:Risk","Kidd blood group:Risk","HIGH","-~-~613868~-","SLC14A1"]
["SLC14A1","Kidd blood group variant","Kidd blood group","Risk","Kidd blood group:Risk","Kidd blood group:Risk","HIGH","-~-~613868~-","SLC14A1"]
["SLC14A1","Urea transport defect","Urea clearance","Autosomal Recessive","Kidd blood group:Risk","Kidd blood group:Risk","HIGH","-~-~613868~-","SLC14A1"]
["SLC15A1","Reduced transport capacity","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~600544~-","SLC15A1"]
["SLC16A1","Erythrocyte lactate transport deficiency","Erythrocyte Lactate Transporter Defect","Autosomal Dominant","Erythrocyte Lactate Transporter Defect:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 7:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Erythrocyte Lactate Transporter Defect:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 7:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6566[geneid]~-~600682~-","SLC16A1"]
["SLC16A1","Exercise-induced hyperinsulinism","Hyperinsulinemic hypoglycemia, familial, 7","Autosomal Dominant","Erythrocyte Lactate Transporter Defect:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 7:Autosomal Dominant$Hyperinsulinemic hypoglycemia:Autosomal Dominant","Erythrocyte Lactate Transporter Defect:Autosomal Dominant$Hyperinsulinemic hypoglycemia, familial, 7:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6566[geneid]~-~600682~-","SLC16A1"]
["SLC16A12","Cataract, age related","Senile cataract","Risk","Cataract, Juvenile, With Microcornea And Glucosuria:Autosomal Dominant","Cataract, Juvenile, With Microcornea And Glucosuria:Autosomal Dominant","HIGH","-~-~611910~-","SLC16A12"]
["SLC16A12","Cataract, juvenile with microcornea and renal glucosuria","Cataract, Juvenile, With Microcornea And Glucosuria","Autosomal Dominant","Cataract, Juvenile, With Microcornea And Glucosuria:Autosomal Dominant","Cataract, Juvenile, With Microcornea And Glucosuria:Autosomal Dominant","HIGH","-~-~611910~-","SLC16A12"]
["SLC16A2","Allan-Herndon-Dudley syndrome","Allan-Herndon-Dudley syndrome","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC16A2","Hypotonia, severe neonatal, and developmental delay","Severe neonatal hypotonia improving with age;Developmental delay","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC16A2","Leucoencephalopathy, X-linked","Progressive multifocal leukoencephalopathy","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC16A2","Mental retardation","Mental retardation","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC16A2","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC16A2","Monocarboxylate transporter 8 deficiency","Allan-Herndon-Dudley syndrome","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC16A2","Putamen lesions & low T4 in cerebrospinal fluid","Allan-Herndon-Dudley syndrome","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC16A2","Severe neurologic impairment","Neurological deficit","X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","Allan-Herndon-Dudley syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6567[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK26373~300095~-","SLC16A2"]
["SLC17A3","Autism","Autistic Disorder","Risk","Hyperuricemia:Autosomal Dominant","Hyperuricemia:Autosomal Dominant","HIGH","-~-~611034~-","SLC17A3"]
["SLC17A3","Glycogen storage disease, modifier of","Glycogen storage disease","Modifier","Hyperuricemia:Autosomal Dominant","Hyperuricemia:Autosomal Dominant","HIGH","-~-~611034~-","SLC17A3"]
["SLC17A3","Hyperuricaemia","Hyperuricemia","Autosomal Dominant","Hyperuricemia:Autosomal Dominant","Hyperuricemia:Autosomal Dominant","HIGH","-~-~611034~-","SLC17A3"]
["SLC17A5","Salla disease","Salla disease","Autosomal Recessive","Salla disease:Autosomal Recessive$Sialic acid storage disease, severe infantile type:Autosomal Recessive","Salla disease:Autosomal Recessive$Sialic acid storage disease, severe infantile type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26503[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1470~604322~-","SLC17A5"]
["SLC17A5","Sialic acid storage disease, infantile","Sialic acid storage disease, severe infantile type","Autosomal Recessive","Salla disease:Autosomal Recessive$Sialic acid storage disease, severe infantile type:Autosomal Recessive","Salla disease:Autosomal Recessive$Sialic acid storage disease, severe infantile type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26503[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1470~604322~-","SLC17A5"]
["SLC17A8","Deafness, nonsyndromic sensorineural 25","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 25:Autosomal Dominant$Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=246213[geneid]~-~607557~-","SLC17A8"]
["SLC17A9","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612107~-","SLC17A9"]
["SLC19A2","Megaloblastic anaemia, thiamine responsive","Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness","Autosomal Recessive","Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness:Autosomal Recessive","Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10560[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1282~603941~-","SLC19A2"]
["SLC19A3","Basal ganglia disease, biotin-responsive","Basal ganglia disease, biotin-responsive","Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80704[geneid]~-~606152~-","SLC19A3"]
["SLC19A3","Encephalopathy, early-infantile, lethal","Early myoclonic encephalopathy","Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80704[geneid]~-~606152~-","SLC19A3"]
["SLC19A3","Leigh syndrome, early-childhood fatal","Leigh's disease","Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80704[geneid]~-~606152~-","SLC19A3"]
["SLC19A3","Wernicke's-like encephalopathy","Wernicke's disease","Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","Basal ganglia disease, biotin-responsive:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80704[geneid]~-~606152~-","SLC19A3"]
["SLC1A1","Dicarboxylic aminoaciduria","Dicarboxylicaminoaciduria","Autosomal Recessive","Schizophrenia:Risk","Schizophrenia:Risk","HIGH","-~-~133550~-","SLC1A1"]
["SLC1A1","Obsessive-compulsive disorder","NULL","No significant association PMID 19569082","NULL","NULL","HIGH","-~-~133550~-","SLC1A1"]
["SLC1A1","Schizophrenia","Schizophrenia","Autosomal Dominant","Schizophrenia:Risk","Schizophrenia:Risk","HIGH","-~-~133550~-","SLC1A1"]
["SLC1A3","Episodic ataxia  6","Episodic Ataxia, Type 6","Autosomal Dominant","Episodic Ataxia, Type 6:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6507[geneid]~-~600111~-","SLC1A3"]
["SLC1A3","Episodic ataxia/hemiplegia/seizures","Episodic ataxia;Hemiplegia;Seizure","Autosomal Dominant","Episodic Ataxia, Type 6:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6507[geneid]~-~600111~-","SLC1A3"]
["SLC1A3","Increased glutmate transport","Gilles de la Tourette's syndrome","Risk","Episodic Ataxia, Type 6:Autosomal Dominant$Episodic ataxia:Autosomal Dominant","Episodic ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6507[geneid]~-~600111~-","SLC1A3"]
["SLC20A2","Basal ganglia calcification, idiopathic","Fahr's syndrome","Autosomal Dominant","Basal ganglia cancification, idiopathic, 3:Autosomal Dominant$Fahr's syndrome:Autosomal Dominant","Fahr's syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1421~158378~-","SLC20A2"]
["SLC22A1","Altered substrate selectivity","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~602607~-","SLC22A1"]
["SLC22A1","Reduced function","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~602607~-","SLC22A1"]
["SLC22A1","Reduced metformin uptake","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~602607~-","SLC22A1"]
["SLC22A12","Gout, primary","Primary gout","Autosomal Dominant","Renal hypouricemia:Autosomal Recessive","Renal hypouricemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116085[geneid]~-~607096~-","SLC22A12"]
["SLC22A12","Hypouricaemia, renal","Familial renal hypouricemia","Autosomal Recessive","Renal hypouricemia:Autosomal Recessive","Renal hypouricemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116085[geneid]~-~607096~-","SLC22A12"]
["SLC22A14","Altered splicing","Malignant tumor of stomach","Risk",null,null,"HIGH","-~-~604048~-","SLC22A14"]
["SLC22A2","Altered transporter function","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~602608~-","SLC22A2"]
["SLC22A2","Decreased transporter function","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~602608~-","SLC22A2"]
["SLC22A25","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610792~-","SLC22A25"]
["SLC22A3","Altered substrate specificity","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~604842~-","SLC22A3"]
["SLC22A3","Obsessive-compulsive disorder","Obsessive-compulsive disorder","Autosomal Dominant",null,null,"HIGH","-~-~604842~-","SLC22A3"]
["SLC22A4","Altered splicing","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6583[geneid]~-~604190~-","SLC22A4"]
["SLC22A4","Organic cation transporter deficiency","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6583[geneid]~-~604190~-","SLC22A4"]
["SLC22A5","Carnitine deficiency, primary","Renal carnitine transport defect","Autosomal Recessive","Renal carnitine transport defect:Autosomal Recessive","Renal carnitine transport defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6584[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84551~603377~-","SLC22A5"]
["SLC22A5","Carnitine deficiency, systemic primary","Renal carnitine transport defect","Autosomal Recessive","Renal carnitine transport defect:Autosomal Recessive","Renal carnitine transport defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6584[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84551~603377~-","SLC22A5"]
["SLC22A5","Reduced function","Drug Response","Pharmacogenetic","Renal carnitine transport defect:Autosomal Recessive","Renal carnitine transport defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6584[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK84551~603377~-","SLC22A5"]
["SLC22A6","Decreased function","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~607582~-","SLC22A6"]
["SLC22A9","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607579~-","SLC22A9"]
["SLC24A1","Macular degeneration, age related","NULL","No significant association PMID 12037007","NULL","NULL","HIGH","-~-~603617~-","SLC24A1"]
["SLC24A1","Night blindness, congenital stationary","Night blindness, congenital stationary (complete), 1D;Congenital stationary night blindness","Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~603617~-","SLC24A1"]
["SLC24A1","Optic atrophy","NULL","No significant association PMID 12037007","NULL","NULL","HIGH","-~-~603617~-","SLC24A1"]
["SLC24A1","Retinal disease","NULL","No significant association PMID 12037007","NULL","NULL","HIGH","-~-~603617~-","SLC24A1"]
["SLC24A2","Retinal disease","NULL","Variants studied not significantly associated with disease PMID 12037007","NULL","NULL","HIGH","-~-~609838~-","SLC24A2"]
["SLC24A4","Amelogenesis imperfecta","Amelogenesis imperfecta","Autosomal Dominant","Skin/Hair/Eye Pigmentation, Variation In, 6:Autosomal Recessive","Skin/Hair/Eye Pigmentation, Variation In, 6:Autosomal Recessive","HIGH","-~-~609840~-","SLC24A4"]
["SLC24A5","Albinism, oculocutaneous","Oculocutaneous albinism","Autosomal Dominant","Oculocutaneous albinism:Autosomal Dominant$Skin/Hair/Eye Pigmentation, Variation In, 4:Autosomal Dominant","Oculocutaneous albinism:Autosomal Dominant$Skin/Hair/Eye Pigmentation, Variation In, 4:Autosomal Dominant","HIGH","-~-~609802~-","SLC24A5"]
["SLC25A1","Agenesis of corpus callosum & optic nerve hypoplasia","Agenesis of corpus callosum;Hypoplasia of the optic nerve","Autosomal Recessive","Combined D-2- and L-2-hydroxyglutaric aciduria:Autosomal Recessive","Combined D-2- and L-2-hydroxyglutaric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6576[geneid]~-~190315~-","SLC25A1"]
["SLC25A1","Hydroxyglutaric aciduria, combined D-2 & L-2","Combined D-2- and L-2-hydroxyglutaric aciduria","Autosomal Recessive","Combined D-2- and L-2-hydroxyglutaric aciduria:Autosomal Recessive","Combined D-2- and L-2-hydroxyglutaric aciduria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6576[geneid]~-~190315~-","SLC25A1"]
["SLC25A12","AGC1 deficiency","Hypomyelination, Global Cerebral","Autosomal Recessive","Hypomyelination, Global Cerebral:Autosomal Recessive","Hypomyelination, Global Cerebral:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8604[geneid]~-~603667~-","SLC25A12"]
["SLC25A13","Citrin deficiency","Citrin deficiency","Autosomal Recessive","Citrullinemia:Autosomal Recessive$Adult-onset citrullinemia type 2:Autosomal Recessive$Neonatal-onset citrullinemia type 2:Autosomal Recessive","Citrullinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1181~603859~-","SLC25A13"]
["SLC25A13","Citrullinaemia, adult onset, type II","Adult-onset citrullinemia type 2","Autosomal Recessive","Citrullinemia:Autosomal Recessive$Adult-onset citrullinemia type 2:Autosomal Recessive$Neonatal-onset citrullinemia type 2:Autosomal Recessive","Citrullinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1181~603859~-","SLC25A13"]
["SLC25A13","Hepatitis, idiopathic neonatal","Neonatal (idiopathic) hepatitis","Autosomal Recessive","Citrullinemia:Autosomal Recessive$Adult-onset citrullinemia type 2:Autosomal Recessive$Neonatal-onset citrullinemia type 2:Autosomal Recessive","Citrullinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1181~603859~-","SLC25A13"]
["SLC25A13","Intrahepatic cholestasis, neonatal","Neonatal-onset citrullinemia type 2","Autosomal Recessive","Citrullinemia:Autosomal Recessive$Adult-onset citrullinemia type 2:Autosomal Recessive$Neonatal-onset citrullinemia type 2:Autosomal Recessive","Citrullinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1181~603859~-","SLC25A13"]
["SLC25A13","Intrahepatic cholestasis, neonatal with multiple ovarian antral follicles","Neonatal-onset citrullinemia type 2","Autosomal Recessive","Citrullinemia:Autosomal Recessive$Adult-onset citrullinemia type 2:Autosomal Recessive$Neonatal-onset citrullinemia type 2:Autosomal Recessive","Citrullinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10165[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1181~603859~-","SLC25A13"]
["SLC25A15","HHH syndrome","Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","Autosomal Recessive","Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome:Autosomal Recessive","Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10166[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK97260~603861~-","SLC25A15"]
["SLC25A19","Microcephaly","Amish lethal microcephaly","Autosomal Recessive","Microcephalus:Autosomal Recessive$Amish lethal microcephaly:Autosomal Recessive","Microcephalus:Autosomal Recessive$Amish lethal microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60386[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1365~606521~-","SLC25A19"]
["SLC25A19","Neuropathy and bilateral striatal necrosis","Polyneuropathy;Striatonigral degeneration infantile","Autosomal Recessive","Microcephalus:Autosomal Recessive$Amish lethal microcephaly:Autosomal Recessive","Microcephalus:Autosomal Recessive$Amish lethal microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=60386[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1365~606521~-","SLC25A19"]
["SLC25A20","Carnitine-acylcarnitine carrier deficiency","Carnitine acylcarnitine translocase deficiency","Autosomal Recessive","Carnitine acylcarnitine translocase deficiency:Autosomal Recessive","Carnitine acylcarnitine translocase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=788[geneid]~-~613698~-","SLC25A20"]
["SLC25A22","Epileptic encephalopathy, neonatal","Epileptic Encephalopathy, Early Infantile, 3","Autosomal Recessive","Epileptic Encephalopathy, Early Infantile, 3:Autosomal Recessive$Early myoclonic encephalopathy:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79751[geneid]~-~609302~-","SLC25A22"]
["SLC25A22","Myoclinic epilepsy, neonatal","Epileptic Encephalopathy, Early Infantile, 3","Autosomal Recessive","Epileptic Encephalopathy, Early Infantile, 3:Autosomal Recessive$Early myoclonic encephalopathy:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79751[geneid]~-~609302~-","SLC25A22"]
["SLC25A3","Mitochondrial phosphate carrier deficiency","Mitochondrial Phosphate Carrier Deficiency","Autosomal Recessive","Mitochondrial Phosphate Carrier Deficiency:Autosomal Recessive","Mitochondrial Phosphate Carrier Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5250[geneid]~-~600370~-","SLC25A3"]
["SLC25A3","Muscular hypotonia & hypertrophic cardiomyopathy","Muscle hypotonia;Hypertrophic cardiomyopathy","Autosomal Recessive","Mitochondrial Phosphate Carrier Deficiency:Autosomal Recessive","Mitochondrial Phosphate Carrier Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5250[geneid]~-~600370~-","SLC25A3"]
["SLC25A38","Sideroblastic anaemia","Autosomal-linked pyridoxine refractory sideroblastic anemia","Autosomal Recessive","Autosomal-linked pyridoxine refractory sideroblastic anemia:Autosomal Recessive$Sideroblastic anemia:Autosomal Recessive","Sideroblastic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54977[geneid]~-~610819~-","SLC25A38"]
["SLC25A39","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610820~-","SLC25A39"]
["SLC25A4","Mitochondrial myopathy & hypertrophic cardiomyopathy","Mitochondrial DNA Depletion Syndrome, Myopathic Form","Autosomal Recessive","Mitochondrial DNA Depletion Syndrome, Myopathic Form:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3:Autosomal Dominant$Progressive External Ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive External Ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=291[geneid]~-~103220~-","SLC25A4"]
["SLC25A4","Progressive external ophthalmoplegia","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3","Autosomal Dominant","Mitochondrial DNA Depletion Syndrome, Myopathic Form:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3:Autosomal Dominant$Progressive External Ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive External Ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=291[geneid]~-~103220~-","SLC25A4"]
["SLC25A4","SANDO","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis","Autosomal Dominant","Mitochondrial DNA Depletion Syndrome, Myopathic Form:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive$Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3:Autosomal Dominant$Progressive External Ophthalmoplegia:Autosomal Dominant","Depletion of mitochondrial DNA:Autosomal Recessive$Progressive External Ophthalmoplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=291[geneid]~-~103220~-","SLC25A4"]
["SLC25A43","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300641~-","SLC25A43"]
["SLC26A2","Achondrogenesis 1B","Achondrogenesis, type IB","Autosomal Recessive","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A2","Atelosteogenesis 2","Atelosteogenesis type 2","Autosomal Recessive","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A2","Atelosteogenesis 2/diastrophic dysplasia","Atelosteogenesis/diastrophic dysplasia","Autosomal Dominant","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A2","De La Chapelle Dysplasia","De La Chapelle Dysplasia","Autosomal Recessive","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A2","Desbuquois dysplasia/diastrophic dysplasia","Rolland-Debuqois syndrome;Diastrophic dysplasia","Autosomal Recessive","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A2","Diastrophic dysplasia","Diastrophic dysplasia","Autosomal Recessive","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A2","Diastrophic dysplasia/Multiple Epiphyseal dysplasia","Diastrophic dysplasia;Multiple epiphyseal dysplasia","Autosomal Recessive","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A2","Multiple epiphyseal dysplasia","Multiple epiphyseal dysplasia","Autosomal Recessive","Achondrogenesis, type IB:Autosomal Recessive$Achondrogenesis:Autosomal Recessive$Atelosteogenesis type 2:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant:Autosomal Recessive$Epiphyseal dysplasia, multiple, 4:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","Achondrogenesis:Autosomal Recessive$Atelosteogenesis:Autosomal Recessive$De La Chapelle Dysplasia:Autosomal Recessive$Diastrophic dysplasia:Autosomal Recessive$Multiple epiphyseal dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1836[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1306$http://www.ncbi.nlm.nih.gov/books/NBK1516$http://www.ncbi.nlm.nih.gov/books/NBK1350$http://www.ncbi.nlm.nih.gov/books/NBK1317~606718~-","SLC26A2"]
["SLC26A3","Diarrhoea, congenital chloride","Congenital secretory diarrhea, chloride type","Autosomal Recessive","Congenital secretory diarrhea, chloride type:Autosomal Recessive","Congenital secretory diarrhea, chloride type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1811[geneid]~-~126650~-","SLC26A3"]
["SLC26A4","Deafness","Deafness","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Deafness, bilateral, with inner ear malformation","Deafness","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Enlarged vestibular aqueduct","Deafness","Autosomal Dominant","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Enlarged vestibular aqueduct & Mondini deformity","Deafness;Mondini defect","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Enlarged vestibular aqueduct & Mondini dysplasia","Deafness;Mondini defect","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Enlarged vestibular aqueduct & vestibular dilatation","Dilatation of the vestibular aqueduct","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Graves' disease","Graves' disease","Autosomal Dominant","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Hearing impairment, bilateral sensorineural","Deafness","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Hearing impairment, nonsyndromic","Deafness","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Hearing loss","Hearing loss","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Hearing loss with dilation of vestibular aqueduct","Hearing loss","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Mondini deformity","Mondini defect","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Pendred syndrome","Pendred's syndrome","Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A4","Sensorineural deafness with palmoplantar lichen planus","Deafness;Lichen planus","Autosomal Dominant","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","Enlarged Vestibular Aqueduct:Autosomal Recessive$Deafness:Autosomal Recessive$Pendred's syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5172[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1467~605646~-","SLC26A4"]
["SLC26A5","Autism","Autistic Disorder","Risk","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~604943~-","SLC26A5"]
["SLC26A5","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~604943~-","SLC26A5"]
["SLC26A8","Asthenozoospermia","Asthenozoospermia","Autosomal Dominant","Azoospermia, Nonobstructive:Autosomal Dominant$Spermatogenic failure:Autosomal Dominant","Azoospermia, Nonobstructive:Autosomal Dominant","HIGH","-~-~608480~-","SLC26A8"]
["SLC26A9","Reduced current and chloride ion transport","NULL","No disease association","NULL","NULL","HIGH","-~-~608481~-","SLC26A9"]
["SLC27A4","Ichthyosis prematurity syndrome","Ichthyosis prematurity syndrome","Autosomal Recessive","Ichthyosis prematurity syndrome:Autosomal Recessive","Ichthyosis prematurity syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10999[geneid]~-~604194~-","SLC27A4"]
["SLC27A5","Bile acid amidation defect","Familial arthrogryposis-cholestatic hepatorenal syndrome","Autosomal Recessive",null,null,"HIGH","-~-~603314~-","SLC27A5"]
["SLC28A1","Concentrative nucleoside transporter deficiency","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~606207~-","SLC28A1"]
["SLC28A1","Reduced affinity for gemcitabine","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~606207~-","SLC28A1"]
["SLC28A2","Altered substrate specificity","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~606208~-","SLC28A2"]
["SLC28A3","Reduced sodium-binding capacity","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~608269~-","SLC28A3"]
["SLC29A1","Increased gene expression","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~602193~-","SLC29A1"]
["SLC29A2","Equilibrative nucleoside transporter deficiency","NULL","Does not significantly affect drug response by PMID 16214850","NULL","NULL","HIGH","-~-~602110~-","SLC29A2"]
["SLC29A2","Reduced function","NULL","Does not significantly affect drug response by PMID 16214850","NULL","NULL","HIGH","-~-~602110~-","SLC29A2"]
["SLC29A3","Dysosteosclerosis","Dysosteosclerosis","Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55315[geneid]~-~612373~-","SLC29A3"]
["SLC29A3","Faisalabad histiocytosis","Histiocytosis with joint contractures and sensorineural deafness","Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55315[geneid]~-~612373~-","SLC29A3"]
["SLC29A3","H syndrome","Histiocytosis with joint contractures and sensorineural deafness","Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55315[geneid]~-~612373~-","SLC29A3"]
["SLC29A3","Pigmented hypertrichosis with insulin-dependent diabetes","Histiocytosis with joint contractures and sensorineural deafness","Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55315[geneid]~-~612373~-","SLC29A3"]
["SLC29A3","Sinus histiocytosis with massive lymphadenopathy","Histiocytosis with joint contractures and sensorineural deafness","Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55315[geneid]~-~612373~-","SLC29A3"]
["SLC29A3","SLC29A3 disorder","Histiocytosis with joint contractures and sensorineural deafness","Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","Histiocytosis with joint contractures and sensorineural deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55315[geneid]~-~612373~-","SLC29A3"]
["SLC2A1","Absence epilepsy, early-onset","Absence epilepsy","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Alternating hemiplegia of childhood","Alternating hemiplegia of childhood;Choreoathetosis/Spasticity, Episodic","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Cryohydrocytosis, stomatin-deficient","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Epilepsy, idiopathic generalised","Idiopathic generalized epilepsy","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Glucose transporter 1 deficiency syndrome","Dystonia 18","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Myoclonic astatic epilepsy","Myoclonic astatic epilepsy","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Paroxysmal dyskinesia, exertion-induced","Dystonia 18","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Paroxysmal dyskinesia, exertion-induced & epilepsy","Dystonia 18","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A1","Paroxysmal dyskinesia, exertion-induced, epilepsy & migraine","Dystonia 18","Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","Choreoathetosis/Spasticity, Episodic:Autosomal Dominant$Dystonia:Autosomal Dominant$De Vivo disease:Autosomal Dominant$Dystonia 18:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1430~138140~-","SLC2A1"]
["SLC2A10","Aortic aneurysm","Aortic aneurysm","Autosomal Recessive","Arterial tortuosity syndrome:Autosomal Recessive","Arterial tortuosity syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81031[geneid]~-~606145~-","SLC2A10"]
["SLC2A10","Arterial tortuosity syndrome","Arterial tortuosity syndrome","Autosomal Recessive","Arterial tortuosity syndrome:Autosomal Recessive","Arterial tortuosity syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81031[geneid]~-~606145~-","SLC2A10"]
["SLC2A10","Lower serum insulin level","Serum insulin level, low","Autosomal Dominant","Arterial tortuosity syndrome:Autosomal Recessive","Arterial tortuosity syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81031[geneid]~-~606145~-","SLC2A10"]
["SLC2A2","Diabetes mellitus, transient neonatal","Transient neonatal diabetes mellitus","Autosomal Recessive","Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6514[geneid]~-~138160~-","SLC2A2"]
["SLC2A2","Diabetes, NIDDM","Diabetes mellitus type 2","Risk","Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6514[geneid]~-~138160~-","SLC2A2"]
["SLC2A2","Diabetes, NIDDM","NULL","No significant association PMID 8063045","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6514[geneid]~-~138160~-","SLC2A2"]
["SLC2A2","Fanconi-Bickel syndrome","Glycogenosis with glucoaminophosphaturia","Autosomal Recessive","Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","Glycogenosis with glucoaminophosphaturia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6514[geneid]~-~138160~-","SLC2A2"]
["SLC2A4","Diabetes, NIDDM","Diabetes mellitus type 2","Risk","Diabetes mellitus type 2:Risk","Diabetes mellitus type 2:Risk","HIGH","-~-~138190~-","SLC2A4"]
["SLC2A9","Renal hypouricaemia","Hypouricemia, Renal, 2;Familial renal hypouricemia","Autosomal Dominant","Hypouricemia, Renal, 2:Autosomal Dominant$Renal hypouricemia:Autosomal Dominant","Renal hypouricemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=56606[geneid]~-~606142~-","SLC2A9"]
["SLC30A10","Hepatic cirrhosis, dystonia, polycythaemia & hypermanganesaemia","Hypermanganesemia with Dystonia Polycythemia and Cirrhosis","Autosomal Recessive","Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:Autosomal Recessive","Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK100241~611146~-","SLC30A10"]
["SLC30A10","Parkinsonism, dystonia, hypermanganesaemia, polycythaemia & liver disease","Hypermanganesemia with Dystonia Polycythemia and Cirrhosis","Autosomal Recessive","Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:Autosomal Recessive","Hypermanganesemia with Dystonia Polycythemia and Cirrhosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK100241~611146~-","SLC30A10"]
["SLC30A2","Zinc deficiency in breast milk","Zinc deficiency","Autosomal Dominant","Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc:Autosomal Recessive","Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc:Autosomal Recessive","HIGH","-~-~609617~-","SLC30A2"]
["SLC30A2","Zinc in breast milk, reduced","Zinc deficiency","Autosomal Dominant","Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc:Autosomal Recessive","Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc:Autosomal Recessive","HIGH","-~-~609617~-","SLC30A2"]
["SLC30A5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607819~-","SLC30A5"]
["SLC31A1","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~603085~-","SLC31A1"]
["SLC33A1","Congenital cataracts, hearing loss and low serum copper and ceruloplasmin","Congenital cataract;Hearing loss;Nerve Degeneration","Autosomal Recessive","Congenital cataracts, hearing loss, and neurodegeneration:Autosomal Recessive$Spastic Paraplegia 42, Autosomal Dominant:Autosomal Dominant$Spastic Paraplegia:Autosomal Dominant","Congenital cataracts, hearing loss, and neurodegeneration:Autosomal Recessive$Spastic Paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9197[geneid]~-~603690~-","SLC33A1"]
["SLC33A1","Spastic paraplegia, Autosomal Dominant","Spastic paraplegia","Autosomal Dominant","Congenital cataracts, hearing loss, and neurodegeneration:Autosomal Recessive$Spastic Paraplegia 42, Autosomal Dominant:Autosomal Dominant$Spastic Paraplegia:Autosomal Dominant","Congenital cataracts, hearing loss, and neurodegeneration:Autosomal Recessive$Spastic Paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9197[geneid]~-~603690~-","SLC33A1"]
["SLC34A1","Fanconi renotubular syndrome 2","Fanconi renotubular syndrome 2;Glycogenosis with glucoaminophosphaturia","Autosomal Recessive","Fanconi renotubular syndrome 2:Autosomal Recessive$Adult Fanconi syndrome:Autosomal Recessive$Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1:Autosomal Dominant","Adult Fanconi syndrome:Autosomal Recessive$Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1:Autosomal Dominant","HIGH","-~-~182309~-","SLC34A1"]
["SLC34A1","Nephrolithiasis","Kidney stone","Autosomal Dominant","Fanconi renotubular syndrome 2:Autosomal Recessive$Adult Fanconi syndrome:Autosomal Recessive$Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1:Autosomal Dominant","Adult Fanconi syndrome:Autosomal Recessive$Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1:Autosomal Dominant","HIGH","-~-~182309~-","SLC34A1"]
["SLC34A1","Osteoporosis with hypophosphataemia","Osteoporosis;Hypophosphatemia","Autosomal Dominant","Fanconi renotubular syndrome 2:Autosomal Recessive$Adult Fanconi syndrome:Autosomal Recessive$Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1:Autosomal Dominant","Adult Fanconi syndrome:Autosomal Recessive$Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1:Autosomal Dominant","HIGH","-~-~182309~-","SLC34A1"]
["SLC34A2","Pulmonary alveolar microlithiasis","Pulmonary alveolar microlithiasis","Autosomal Recessive","Testicular Microlithiasis:Autosomal Dominant$Pulmonary alveolar microlithiasis:Autosomal Recessive","Testicular Microlithiasis:Autosomal Dominant$Pulmonary alveolar microlithiasis:Autosomal Recessive","HIGH","-~-~604217~-","SLC34A2"]
["SLC34A3","Hereditary hypophosphataemic rickets with hypercalciuria","Autosomal Recessive hypophosphatemic bone disease","Autosomal Recessive","Autosomal Recessive hypophosphatemic bone disease:Autosomal Recessive","Autosomal Recessive hypophosphatemic bone disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=142680[geneid]~-~609826~-","SLC34A3"]
["SLC35A1","Congenital disorder of glycosylation","Congenital Disorder Of Glycosylation, Type IIF","Autosomal Recessive","Congenital Disorder Of Glycosylation, Type IIF:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10559[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~605634~-","SLC35A1"]
["SLC35A1","Congenital disorder of glycosylation IIf","Congenital Disorder Of Glycosylation, Type IIF","Autosomal Recessive","Congenital Disorder Of Glycosylation, Type IIF:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10559[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~605634~-","SLC35A1"]
["SLC35A2","Congenital disorder of glycosylation 2x","Carbohydrate-deficient glycoprotein syndrome","X-linked Dominant","Carbohydrate-deficient glycoprotein syndrome:X-linked dominant","Carbohydrate-deficient glycoprotein syndrome:X-linked dominant","HIGH","-~-~314375~-","SLC35A2"]
["SLC35C1","Congenital disorder of glycosylation","Leukocyte adhesion deficiency - type 2","Autosomal Recessive","Leukocyte adhesion deficiency - type 2:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Leukocyte adhesion deficiency - type 2:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55343[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~605881~-","SLC35C1"]
["SLC35C1","Congenital disorder of glycosylation 2c","Leukocyte adhesion deficiency - type 2","Autosomal Recessive","Leukocyte adhesion deficiency - type 2:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Leukocyte adhesion deficiency - type 2:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55343[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~605881~-","SLC35C1"]
["SLC35C1","Leukocyte adhesion deficiency 2","Leukocyte adhesion deficiency - type 2","Autosomal Recessive","Leukocyte adhesion deficiency - type 2:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Leukocyte adhesion deficiency - type 2:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55343[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~605881~-","SLC35C1"]
["SLC35D1","Schneckenbecken dysplasia","Schneckenbecken dysplasia","Autosomal Recessive","Schneckenbecken dysplasia:Autosomal Recessive","Schneckenbecken dysplasia:Autosomal Recessive","HIGH","-~-~610804~-","SLC35D1"]
["SLC36A2","Hyperglycinuria","Glycinuria with or without Oxalate Urolithiasis","Autosomal Dominant","Hyperglycinuria:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","Hyperglycinuria:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","HIGH","-~-~608331~-","SLC36A2"]
["SLC36A2","Iminoglycinuria","Iminoglycinuria","Autosomal Recessive","Hyperglycinuria:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","Hyperglycinuria:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","HIGH","-~-~608331~-","SLC36A2"]
["SLC37A3","Hyperinsulism","Hyperinsulinism","Risk",null,null,null,"-~-~-~-","SLC37A3"]
["SLC39A13","Ehlers-Danlos syndrome, spondylocheiro dysplastic form","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like","Autosomal Recessive","Spondylocheirodysplasia, Ehlers-Danlos syndrome-like:Autosomal Recessive","Spondylocheirodysplasia, Ehlers-Danlos syndrome-like:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91252[geneid]~-~608735~-","SLC39A13"]
["SLC39A4","Acrodermatitis enteropathica","Hereditary acrodermatitis enteropathica","Autosomal Recessive","Acrodermatitis enteropathica:Autosomal Recessive","Acrodermatitis enteropathica:Autosomal Recessive","HIGH","-~-~607059~-","SLC39A4"]
["SLC39A5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608730~-","SLC39A5"]
["SLC3A1","Cystinuria","Cystinuria","Autosomal Recessive","Cystinuria:Autosomal Recessive","Cystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6519[geneid]~-~104614~-","SLC3A1"]
["SLC40A1","Haemochromatosis","Hemochromatosis, type 4;Hemochromatosis","Autosomal Dominant","Hemochromatosis, type 4:Autosomal Dominant$Hemochromatosis:Autosomal Dominant","Hemochromatosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30061[geneid]~-~604653~-","SLC40A1"]
["SLC40A1","Haemochromatosis, type 4","Hemochromatosis, type 4","Autosomal Dominant","Hemochromatosis, type 4:Autosomal Dominant$Hemochromatosis:Autosomal Dominant","Hemochromatosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30061[geneid]~-~604653~-","SLC40A1"]
["SLC40A1","Hyperferritinaemia","Hemochromatosis, type 4;Hemochromatosis","Autosomal Dominant","Hemochromatosis, type 4:Autosomal Dominant$Hemochromatosis:Autosomal Dominant","Hemochromatosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30061[geneid]~-~604653~-","SLC40A1"]
["SLC40A1","Iron overload","Iron overload","Autosomal Dominant","Hemochromatosis, type 4:Autosomal Dominant$Hemochromatosis:Autosomal Dominant","Hemochromatosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30061[geneid]~-~604653~-","SLC40A1"]
["SLC41A1","Parkinson disease, idiopathic","Parkinson's disease","Autosomal Dominant",null,null,"HIGH","-~-~610801~-","SLC41A1"]
["SLC44A2","Reduced HNA-3a alloantibody binding","Transfusion related acute lung injury","Autosomal Dominant",null,null,"HIGH","-~-~606106~-","SLC44A2"]
["SLC44A2","Transfusion-related acute lung injury","Transfusion related acute lung injury","Autosomal Dominant",null,null,"HIGH","-~-~606106~-","SLC44A2"]
["SLC45A2","Albinism, oculocutaneous","Oculocutaneous Albinism, Type IV","Autosomal Recessive","Oculocutaneous Albinism, Type IV:Autosomal Recessive$Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 5:Modifier","Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 5:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51151[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1510~606202~-","SLC45A2"]
["SLC45A2","Oculocutaneous albinism 4","Oculocutaneous Albinism, Type IV","Autosomal Recessive","Oculocutaneous Albinism, Type IV:Autosomal Recessive$Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 5:Modifier","Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 5:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51151[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1510~606202~-","SLC45A2"]
["SLC4A1","Acanthocytosis","Acanthocytosis","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Anaemia","Anemia","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Blood group variation","Diego blood group system;Blood group antigen Fr(a);Blood group antigen Sw(a);Blood group antigen Wd(a);Wright blood group","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Distal renal tubular acidosis","Distal renal tubular acidosis","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Distal renal tubular acidosis","Distal renal tubular acidosis","Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Erythrocyte band 3 deficiency","Spherocytosis","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Kernicterus, acute","Kernicterus","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Spherocytosis","Spherocytosis","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A1","Stomatocytosis","Stomatocytosis","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis, Type 4:Autosomal Dominant$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","Elliptocytosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Dominant$Distal renal tubular acidosis:Autosomal Recessive$Spherocytosis:Autosomal Dominant$Diego blood group system:Autosomal Dominant$Blood group antigen Froese:Autosomal Dominant$Blood group antigen Swann:Autosomal Dominant$Blood group antigen Waldner:Autosomal Dominant$Blood group antigen Wright:Autosomal Dominant$Malaria:Decreased Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6521[geneid]~-~109270~-","SLC4A1"]
["SLC4A11","Corneal dystrophy and perceptive deafness","Corneal dystrophy and perceptive deafness","Autosomal Recessive","Corneal Dystrophy, Fuchs Endothelial, 4:Autosomal Dominant$Fuchs' corneal dystrophy:Autosomal Dominant$Corneal endothelial dystrophy type 2:Autosomal Recessive$Corneal endothelial dystrophy:Autosomal Recessive$Corneal dystrophy and perceptive deafness:Autosomal Recessive","Fuchs' corneal dystrophy:Autosomal Dominant$Corneal endothelial dystrophy:Autosomal Recessive$Corneal dystrophy and perceptive deafness:Autosomal Recessive","HIGH","-~-~610206~-","SLC4A11"]
["SLC4A11","Corneal dystrophy, Fuchs endothelial","Corneal Dystrophy, Fuchs Endothelial, 4","Autosomal Dominant","Corneal Dystrophy, Fuchs Endothelial, 4:Autosomal Dominant$Fuchs' corneal dystrophy:Autosomal Dominant$Corneal endothelial dystrophy type 2:Autosomal Recessive$Corneal endothelial dystrophy:Autosomal Recessive$Corneal dystrophy and perceptive deafness:Autosomal Recessive","Fuchs' corneal dystrophy:Autosomal Dominant$Corneal endothelial dystrophy:Autosomal Recessive$Corneal dystrophy and perceptive deafness:Autosomal Recessive","HIGH","-~-~610206~-","SLC4A11"]
["SLC4A11","Corneal endothelial dystrophy 2","Corneal endothelial dystrophy type 2","Autosomal Recessive","Corneal Dystrophy, Fuchs Endothelial, 4:Autosomal Dominant$Fuchs' corneal dystrophy:Autosomal Dominant$Corneal endothelial dystrophy type 2:Autosomal Recessive$Corneal endothelial dystrophy:Autosomal Recessive$Corneal dystrophy and perceptive deafness:Autosomal Recessive","Fuchs' corneal dystrophy:Autosomal Dominant$Corneal endothelial dystrophy:Autosomal Recessive$Corneal dystrophy and perceptive deafness:Autosomal Recessive","HIGH","-~-~610206~-","SLC4A11"]
["SLC4A4","Proximal renal tubular acidosis","Proximal renal tubular acidosis","Autosomal Recessive","Renal Tubular Acidosis, Type II:Autosomal Recessive$Proximal renal tubular acidosis:Autosomal Recessive","Proximal renal tubular acidosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8671[geneid]~-~603345~-","SLC4A4"]
["SLC52A2","Brown-Vialetto-Van Laere syndrome","Brown-Vialetto-Van Laere syndrome","Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive","HIGH","-~-~607882~-","SLC52A2"]
["SLC52A3","Brown-Vialetto-Van Laere / Fazio-Londe syndrome","Brown-Vialetto-Van Laere syndrome;Progressive bulbar palsy of childhood","Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Fazio-Londe disease:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","HIGH","-~-~613350~-","SLC52A3"]
["SLC52A3","Brown-Vialetto-Van Laere syndrome","Brown-Vialetto-Van Laere syndrome","Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Fazio-Londe disease:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","HIGH","-~-~613350~-","SLC52A3"]
["SLC52A3","Fazio Londe syndrome","Progressive bulbar palsy of childhood","Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Fazio-Londe disease:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","Brown-Vialetto-Van Laere syndrome:Autosomal Recessive$Progressive bulbar palsy of childhood:Autosomal Recessive","HIGH","-~-~613350~-","SLC52A3"]
["SLC5A1","Glucose / galactose malabsorption","Congenital glucose-galactose malabsorption","Autosomal Recessive","Glucose-galactose malabsorption:Autosomal Recessive","Glucose-galactose malabsorption:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6523[geneid]~-~182380~-","SLC5A1"]
["SLC5A1","Reduced function","Congenital glucose-galactose malabsorption","Autosomal Recessive","Glucose-galactose malabsorption:Autosomal Recessive","Glucose-galactose malabsorption:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6523[geneid]~-~182380~-","SLC5A1"]
["SLC5A11","Reduced serum myo-inositol concentration","NULL","No association with Spina Bifida PMID 15172003","NULL","NULL","HIGH","-~-~610238~-","SLC5A11"]
["SLC5A2","Renal glucosuria","Renal glucosuria","Autosomal Dominant","Renal glucosuria:Autosomal Recessive$Renal glucosuria:Autosomal Dominant","Renal glucosuria:Autosomal Recessive$Renal glucosuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6524[geneid]~-~182381~-","SLC5A2"]
["SLC5A2","Renal glucosuria","Renal glucosuria","Autosomal Recessive","Renal glucosuria:Autosomal Recessive$Renal glucosuria:Autosomal Dominant","Renal glucosuria:Autosomal Recessive$Renal glucosuria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6524[geneid]~-~182381~-","SLC5A2"]
["SLC5A5","Iodide transport defect","Thyroid Dyshormonogenesis 1","Autosomal Recessive","Thyroid Dyshormonogenesis 1:Autosomal Recessive$Iodide transport defect:Autosomal Recessive","Thyroid Dyshormonogenesis 1:Autosomal Recessive$Iodide transport defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6528[geneid]~-~601843~-","SLC5A5"]
["SLC5A7","Hereditary motor neuropathy, type VII","Neuropathy, Distal Hereditary Motor, Type VIIA","Autosomal Dominant","Neuropathy, Distal Hereditary Motor, Type VIIA:Autosomal Dominant","Neuropathy, Distal Hereditary Motor, Type VIIA:Autosomal Dominant","HIGH","-~-~608761~-","SLC5A7"]
["SLC5A7","Reduced transport rate","Neuropathy, Distal Hereditary Motor, Type VIIA","Autosomal Dominant","Neuropathy, Distal Hereditary Motor, Type VIIA:Autosomal Dominant","Neuropathy, Distal Hereditary Motor, Type VIIA:Autosomal Dominant","HIGH","-~-~608761~-","SLC5A7"]
["SLC6A1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk;Intellectual Disability:Risk","Autistic Disorder:Risk;Intellectual Disability:Risk","HIGH","-~-~137165~-","SLC6A1"]
["SLC6A1","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Autistic Disorder:Risk;Intellectual Disability:Risk","Autistic Disorder:Risk;Intellectual Disability:Risk","HIGH","-~-~137165~-","SLC6A1"]
["SLC6A13","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~615097~-","SLC6A13"]
["SLC6A18","Reduced surface expression","Glycinuria with or without Oxalate Urolithiasis;Iminoglycinuria","Modifier",null,null,"HIGH","-~-~610300~-","SLC6A18"]
["SLC6A18","Reduced surface expression","NULL","PMID 19033659 concludes that this transporter for Glycine is non-functional","NULL","NULL","HIGH","-~-~610300~-","SLC6A18"]
["SLC6A19","Glycinuria with or without Oxalate Urolithiasis","Glycinuria with or without Oxalate Urolithiasis","Modifier","Neutral 1 amino acid transport defect:Autosomal Recessive$Glycinuria with or without Oxalate Urolithiasis:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","Neutral 1 amino acid transport defect:Autosomal Recessive$Glycinuria with or without Oxalate Urolithiasis:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=340024[geneid]~-~608893~-","SLC6A19"]
["SLC6A19","Hartnup disorder","Neutral 1 amino acid transport defect","Autosomal Recessive","Neutral 1 amino acid transport defect:Autosomal Recessive$Glycinuria with or without Oxalate Urolithiasis:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","Neutral 1 amino acid transport defect:Autosomal Recessive$Glycinuria with or without Oxalate Urolithiasis:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=340024[geneid]~-~608893~-","SLC6A19"]
["SLC6A19","Iminoglycinuria","Iminoglycinuria","Modifier","Neutral 1 amino acid transport defect:Autosomal Recessive$Glycinuria with or without Oxalate Urolithiasis:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","Neutral 1 amino acid transport defect:Autosomal Recessive$Glycinuria with or without Oxalate Urolithiasis:Autosomal Dominant$Iminoglycinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=340024[geneid]~-~608893~-","SLC6A19"]
["SLC6A2","Orthostatic intolerance and tachycardia","Intolerance, Orthostatic;Tachycardia","Autosomal Dominant","Intolerance, Orthostatic:Autosomal Dominant","Intolerance, Orthostatic:Autosomal Dominant","HIGH","-~-~163970~-","SLC6A2"]
["SLC6A2","Reduced gene expression","Intolerance, Orthostatic;Tachycardia","Risk","Intolerance, Orthostatic:Autosomal Dominant","Intolerance, Orthostatic:Autosomal Dominant","HIGH","-~-~163970~-","SLC6A2"]
["SLC6A3","Autism","Autistic Disorder","Risk","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","HIGH","-~-~126455~-","SLC6A3"]
["SLC6A3","Bipolar affective disorder","Bipolar disorder","Autosomal Dominant","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","HIGH","-~-~126455~-","SLC6A3"]
["SLC6A3","Dopamine transporter deficiency syndrome","Parkinsonism-Dystonia, Infantile","Autosomal Recessive","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","HIGH","-~-~126455~-","SLC6A3"]
["SLC6A3","Dystonia-parkinsonism, infantile","Parkinsonism-Dystonia, Infantile","Autosomal Recessive","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","Parkinsonism-Dystonia, Infantile:Autosomal Recessive","HIGH","-~-~126455~-","SLC6A3"]
["SLC6A4","Increased expression","NULL","No disease association PMID 18445138","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6532[geneid]~-~182138~-","SLC6A4"]
["SLC6A4","MAPK nonresponsiveness","Obsessive-compulsive disorder;Mood disorder;Anxiety disorder","Risk","Obsessive-compulsive disorder:Risk$Anxiety disorder:Risk","Obsessive-compulsive disorder:Risk$Anxiety disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6532[geneid]~-~182138~-","SLC6A4"]
["SLC6A5","Hyperekplexia","Hyperexplexia","Autosomal Recessive","Hyperexplexia:Autosomal Recessive","Hyperexplexia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~604159~-","SLC6A5"]
["SLC6A5","Phenotype modifier","Hyperexplexia","Autosomal Recessive","Hyperexplexia:Autosomal Recessive","Hyperexplexia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9152[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1260~604159~-","SLC6A5"]
["SLC6A8","Cerebral creatine deficiency, X-linked","Deficiency of guanidinoacetate methyltransferase","X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","Creatine deficiency","Deficiency of guanidinoacetate methyltransferase","X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","Creatine transporter deficiency, X-linked","Creatine deficiency, X-linked","X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","Intellectual disability","Intellectual Disability","X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","Intractable epilepsy and intellectual disability","Refractory epilepsy;Intellectual Disability","X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","Mental retardation","Mental retardation","X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","Mental retardation, mild","Mild Mental Retardation","X-linked Dominant","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","Mild intellectual disability with speech & language delay","Intellectual Disability;Speech delay","X-linked Dominant","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC6A8","SLC6A8 deficiency","Creatine deficiency, X-linked","X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","Deficiency of guanidinoacetate methyltransferase:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3794~300036~-","SLC6A8"]
["SLC7A10","Cystinuria","Cystinuria","Risk",null,null,"HIGH","-~-~607959~-","SLC7A10"]
["SLC7A2","Infantile encephalopathy with anorexia","Neonatal encephalopathy;Anorexia","Autosomal Recessive",null,null,"HIGH","-~-~601872~-","SLC7A2"]
["SLC7A5","Phenylketonuria modifier","Classical phenylketonuria","Modifier",null,null,"HIGH","-~-~600182~-","SLC7A5"]
["SLC7A7","Lysinuric protein intolerance","Lysinuric protein intolerance","Autosomal Recessive","Lysinuric protein intolerance:Autosomal Recessive","Lysinuric protein intolerance:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9056[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1361~603593~-","SLC7A7"]
["SLC7A9","Cystinuria","Cystinuria","Autosomal Recessive","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11136[geneid]~-~604144~-","SLC7A9"]
["SLC7A9","Cystinuria, non-type I","Cystinuria","Autosomal Dominant","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11136[geneid]~-~604144~-","SLC7A9"]
["SLC7A9","Cystinuria, type I","Cystinuria, type 1","Autosomal Recessive","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11136[geneid]~-~604144~-","SLC7A9"]
["SLC7A9","Cystinuria, type I/III","Cystinuria, type 1","Autosomal Dominant","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11136[geneid]~-~604144~-","SLC7A9"]
["SLC7A9","Cystinuria, type I/III","Cystinuria, type 3","Autosomal Dominant","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","Cystinuria:Autosomal Dominant$Cystinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11136[geneid]~-~604144~-","SLC7A9"]
["SLC9A3R1","Nephrolithiasis/bone demineralization","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2","Autosomal Dominant","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2:Autosomal Dominant","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2:Autosomal Dominant","HIGH","-~-~604990~-","SLC9A3R1"]
["SLC9A3R1","Renal lithiasis & decreased kidney phosphate reabsorption","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2","Autosomal Dominant","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2:Autosomal Dominant","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2:Autosomal Dominant","HIGH","-~-~604990~-","SLC9A3R1"]
["SLC9A6","Christianson syndrome and retinitis pigmentosa","Mental Retardation, X-Linked, Syndromic, Christianson Type;Retinitis pigmentosa","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10479[geneid]~-~300231~-","SLC9A6"]
["SLC9A6","Mental retardation, X-linked","Mental Retardation, X-Linked, Syndromic, Christianson Type","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10479[geneid]~-~300231~-","SLC9A6"]
["SLC9A6","Mental retardation, X-linked, Christianson type","Mental Retardation, X-Linked, Syndromic, Christianson Type","X-linked Recessive","Mental Retardation, X-Linked, Syndromic, Christianson Type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10479[geneid]~-~300231~-","SLC9A6"]
["SLC9A9","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608396~-","SLC9A9"]
["SLCO1B1","Increased methotrexate clearance","Drug Response","Pharmacogenetic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~604843~-","SLCO1B1"]
["SLCO1B1","Increased prevastatin clearance","Drug Response","Pharmacogenetic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~604843~-","SLCO1B1"]
["SLCO1B1","OATP1B1 deficiency","Drug Response","Pharmacogenetic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~604843~-","SLCO1B1"]
["SLCO1B1","Pravastatin-induced myopathy","Drug-induced myopathy","Risk","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~604843~-","SLCO1B1"]
["SLCO1B1","Reduced methotrexate clearance","Drug Response","Pharmacogenetic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~604843~-","SLCO1B1"]
["SLCO1B1","Response to statins","Drug Response","Pharmacogenetic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~604843~-","SLCO1B1"]
["SLCO1B1","Rotor syndrome","Rotor syndrome","Autosomal Recessive, Digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~604843~-","SLCO1B1"]
["SLCO1B3","Altered substrate specificity","Drug Response","Pharmacogenetic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~605495~-","SLCO1B3"]
["SLCO1B3","Decreased protein expression","Drug Response","Pharmacogenetic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~605495~-","SLCO1B3"]
["SLCO1B3","Rotor syndrome","Rotor syndrome","Autosomal Recessive, Digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","Rotor syndrome:Autosomal Recessive, digenic$Hyperbilirubinemia:Autosomal Recessive, digenic","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK114805~605495~-","SLCO1B3"]
["SLCO1C1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613389~-","SLCO1C1"]
["SLCO2A1","Hypertrophic osteoarthropathy, primary","Pachydermoperiostosis syndrome","Autosomal Recessive","Hypertrophic osteoarthropathy:Autosomal Recessive","Hypertrophic osteoarthropathy:Autosomal Recessive","HIGH","-~-~601460~-","SLCO2A1"]
["SLCO2A1","Hypertrophic osteoarthropathy, primary with digital clubbing","Pachydermoperiostosis syndrome;Digital Clubbing, Isolated Congenital","Autosomal Recessive","Hypertrophic osteoarthropathy:Autosomal Recessive","Hypertrophic osteoarthropathy:Autosomal Recessive","HIGH","-~-~601460~-","SLCO2A1"]
["SLCO2A1","Isolated digital clubbing","Digital Clubbing, Isolated Congenital","Autosomal Dominant","Hypertrophic osteoarthropathy:Autosomal Recessive","Hypertrophic osteoarthropathy:Autosomal Recessive","HIGH","-~-~601460~-","SLCO2A1"]
["SLCO2A1","Pachydermoperiostosis","Pachydermoperiostosis syndrome","Autosomal Recessive","Hypertrophic osteoarthropathy:Autosomal Recessive","Hypertrophic osteoarthropathy:Autosomal Recessive","HIGH","-~-~601460~-","SLCO2A1"]
["SLCO2B1","Increased mRNA expression","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604988~-","SLCO2B1"]
["SLCO2B1","Poor montelukast metabolism","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604988~-","SLCO2B1"]
["SLFN5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~614952~-","SLFN5"]
["SLIT3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603745~-","SLIT3"]
["SLITRK1","Tourette syndrome","Gilles de la Tourette's syndrome","Autosomal Dominant","Gilles de la Tourette's syndrome:Autosomal Dominant$Trichotillomania:Autosomal Dominant","Gilles de la Tourette's syndrome:Autosomal Dominant$Trichotillomania:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK21138~609678~-","SLITRK1"]
["SLITRK1","Trichotillomania","Trichotillomania","Autosomal Dominant","Gilles de la Tourette's syndrome:Autosomal Dominant$Trichotillomania:Autosomal Dominant","Gilles de la Tourette's syndrome:Autosomal Dominant$Trichotillomania:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK21138~609678~-","SLITRK1"]
["SLITRK6","High myopia and sensorineural deafness","Severe Myopia;Deafness","Autosomal Recessive","Severe Myopia;Deafness:Autosomal Recessive","Severe Myopia;Deafness:Autosomal Recessive","HIGH","-~-~609681~-","SLITRK6"]
["SLK","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","SLK"]
["SLMAP","Brugada syndrome","Brugada syndrome","Autosomal Dominant",null,null,"HIGH","-~-~602701~-","SLMAP"]
["SLURP1","Mal de Meleda","Acroerythrokeratoderma","Autosomal Recessive","Acroerythrokeratoderma:Autosomal Recessive","Acroerythrokeratoderma:Autosomal Recessive","HIGH","-~-~606119~-","SLURP1"]
["SLX4","Breast and/or ovarian cancer","Malignant tumor of breast","Risk","Fanconi anemia, complementation group P:Autosomal Recessive$Fanconi's anemia:Autosomal Recessive","Fanconi's anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84464[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1401~613278~-","SLX4"]
["SMA4","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Spinal muscular atrophy 4:Autosomal Recessive$Spinal muscular atrophy:Autosomal Recessive","Spinal muscular atrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6606[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1352~600354~-","SMN1"]
["SMA4","Spinal muscular atrophy","Spinal muscular atrophy","Autosomal Recessive","Spinal muscular atrophy 4:Autosomal Recessive$Spinal muscular atrophy:Autosomal Recessive","Spinal muscular atrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6606[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1352~600354~-","SMN1"]
["SMAD1","Pulmonary arterial hypertension","Primary pulmonary hypertension","Risk","Primary pulmonary hypertension:Risk","Primary pulmonary hypertension:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1242$http://www.ncbi.nlm.nih.gov/books/NBK1285~600287~-","GARS"]
["SMAD2","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~601366~-","SMAD2"]
["SMAD3","Aneurysms-osteoarthritis syndrome","Loeys-Dietz syndrome, type 1C","Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4088[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1133$http://www.ncbi.nlm.nih.gov/books/NBK1120~603109~-","SMAD3"]
["SMAD3","Aortic aneurysms & dissections with early-onset osteoarthritis","Loeys-Dietz syndrome","Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4088[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1133$http://www.ncbi.nlm.nih.gov/books/NBK1120~603109~-","SMAD3"]
["SMAD3","Osteoarthritis","Osteoarthritis","Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4088[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1133$http://www.ncbi.nlm.nih.gov/books/NBK1120~603109~-","SMAD3"]
["SMAD3","Thoracic aortic aneurysms & dissections","Aneurysm of thoracic aorta;Dissection of thoracic aorta","Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4088[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1133$http://www.ncbi.nlm.nih.gov/books/NBK1120~603109~-","SMAD3"]
["SMAD4","Breast cancer","Malignant tumor of breast","Risk","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD4","Gastrointestinal polyposis","Diffuse gastrointestinal polyposis disease","Risk","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD4","Haemorrhagic telangiectasia","Osler hemorrhagic telangiectasia syndrome","Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD4","Juvenile polyposis and haemorrhagic telangiectasia","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia","Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD4","Juvenile polyposis coli","Juvenile Polyposis Coli","Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD4","Juvenile polyposis syndrome","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia","Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD4","Myhre syndrome","Ruvalcaba-Myhre syndrome","Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD4","Pulmonary arterial hypertension","Primary pulmonary hypertension","Risk","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia:Autosomal Dominant$Ruvalcaba-Myhre syndrome:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant$Juvenile Polyposis Coli:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4089[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1469$http://www.ncbi.nlm.nih.gov/books/NBK1351~600993~-","SMAD4"]
["SMAD6","Cardiovascular malformation, congenital","Congenital anomaly of cardiovascular system;Aortic valve disorder","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant","Aortic valve disorder:Autosomal Dominant","HIGH","-~-~602931~-","SMAD6"]
["SMAD9","Pulmonary arterial hypertension","Primary pulmonary hypertension","Autosomal Dominant","Primary pulmonary hypertension:Autosomal Dominant","Primary pulmonary hypertension:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4093[geneid]~-~603295~-","SMAD9"]
["SMARCA2","Nicholaides-Baraitser syndrome","Nicolaides-Baraitser syndrome","Autosomal Dominant","Nicolaides-Baraitser syndrome:Autosomal Dominant","Nicolaides-Baraitser syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6595[geneid]~-~600014~-","SMARCA2"]
["SMARCA4","Coffin-Siris syndrome","Coffin-Siris syndrome;Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 2:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131811~603254~-","SMARCA4"]
["SMARCA4","Rhabdoid tumour predisposition syndrome","Rhabdoid Tumor Predisposition Syndrome 2","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 2:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131811~603254~-","SMARCA4"]
["SMARCAL1","Nephrotic syndrome","Nephrotic syndrome","Autosomal Recessive","Schimke immunoosseous dysplasia:Autosomal Recessive","Schimke immunoosseous dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50485[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1376~606622~-","SMARCAL1"]
["SMARCAL1","Schimke immuno-osseous dysplasia","Schimke immunoosseous dysplasia","Autosomal Recessive","Schimke immunoosseous dysplasia:Autosomal Recessive","Schimke immunoosseous dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50485[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1376~606622~-","SMARCAL1"]
["SMARCB1","Atypical teratoid/rhabdoid tumours","Rhabdoid Tumor Predisposition Syndrome 1","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Brain and Kidney tumours","Neoplasm of brain;Neoplasm of kidney","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","CNS Atypical Teratoid/Rhabdoid tumours","Atypical teratoid/rhabdoid tumor","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Coffin-Siris syndrome","Coffin-Siris syndrome;Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Increased expression","Drug Response","Pharmacogenetic","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Kidney tumours","Neoplasm of kidney","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Kleefstra syndrome","Kleefstra Syndrome;Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Mental retardation","Mental retardation","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Multiple meningiomas","Meningiomatosis","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Posterior fossa brain tumours","Neoplasm of brain","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Rhabdoid predisposition syndrome","Rhabdoid Tumor Predisposition Syndrome 1","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Rhabdoid tumour","Malignant rhabdoid tumor","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Schwannomatosis","Schwannomatosis","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCB1","Schwannomatosis, familial","Schwannomatosis","Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome 1:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","Mental retardation:Autosomal Dominant$Rhabdoid Tumor Predisposition Syndrome:Autosomal Dominant$Malignant rhabdoid tumor:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6598[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK131811~601607~-","SMARCB1"]
["SMARCC1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601732~-","SMARCC1"]
["SMARCC2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601734~-","SMARCC2"]
["SMARCE1","Coffin-Siris syndrome","Coffin-Siris syndrome","Autosomal Dominant","Spinal meningioma:Risk","Spinal meningioma:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131811~603111~-","SMARCE1"]
["SMARCE1","Multiple spinal meningiomas","Spinal meningioma","Autosomal Dominant","Spinal meningioma:Risk","Spinal meningioma:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK131811~603111~23377182","SMARCE1"]
["SMC1A","Cornelia de Lange syndrome","Congenital muscular hypertrophy-cerebral syndrome","X-linked Dominant","Congenital muscular hypertrophy-cerebral syndrome:X-linked dominant","Congenital muscular hypertrophy-cerebral syndrome:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8243[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~300040~-","SMC1A"]
["SMC3","Autism","Autistic Disorder","Risk","Cornelia de Lange Syndrome 3:Autosomal Dominant$De Lange syndrome:Autosomal Dominant","De Lange syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9126[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~606062~-","SMC3"]
["SMC3","Cornelia de Lange syndrome","Cornelia de Lange Syndrome 3;De Lange syndrome","Autosomal Dominant","Cornelia de Lange Syndrome 3:Autosomal Dominant$De Lange syndrome:Autosomal Dominant","De Lange syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9126[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1104~606062~-","SMC3"]
["SMCHD1","Autism","Autistic Disorder","Risk","Facioscapulohumeral muscular dystrophy:Autosomal Dominant, digenic","Facioscapulohumeral muscular dystrophy:Autosomal Dominant, digenic","HIGH","-~-~614982~-","SMCHD1"]
["SMCHD1","Facioscapulohumeral muscular dystrophy","Facioscapulohumeral muscular dystrophy","Autosomal Dominant","Facioscapulohumeral muscular dystrophy:Autosomal Dominant, digenic","Facioscapulohumeral muscular dystrophy:Autosomal Dominant, digenic","HIGH","-~-~614982~-","SMCHD1"]
["SMCHD1","Facioscapulohumeral muscular dystrophy 2","Facioscapulohumeral muscular dystrophy","Autosomal Dominant","Facioscapulohumeral muscular dystrophy:Autosomal Dominant, digenic","Facioscapulohumeral muscular dystrophy:Autosomal Dominant, digenic","HIGH","-~-~614982~-","SMCHD1"]
["SMIM1","Vel-negative blood group","Blood group antigen Vel","Autosomal Recessive","Blood group antigen Vel:Risk","Blood group antigen Vel:Risk","HIGH","-~-~615242~-","SMIM1"]
["SMIM1","Weak Vel expression","Blood group antigen Vel","Autosomal Recessive","Blood group antigen Vel:Risk","Blood group antigen Vel:Risk","HIGH","-~-~615242~-","SMIM1"]
["SMN2","Spinal muscular atrophy","Kugelberg-Welander disease","Modifier","Kugelberg-Welander disease:Modifier","Kugelberg-Welander disease:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1352~601627~-","SMN2"]
["SMN2","Spinal muscular atrophy, modifier of","Kugelberg-Welander disease","Modifier","Kugelberg-Welander disease:Modifier","Kugelberg-Welander disease:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6607[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1352~601627~-","SMN2"]
["SMOC1","Microphthalmia with limb anomalies","Anophthalmos with limb anomalies","Autosomal Recessive","Anophthalmos with limb anomalies:Autosomal Recessive","Anophthalmos with limb anomalies:Autosomal Recessive","HIGH","-~-~608488~-","SMOC1"]
["SMOC1","Waardenburg anophthalmia syndrome","Anophthalmos with limb anomalies","Autosomal Recessive","Anophthalmos with limb anomalies:Autosomal Recessive","Anophthalmos with limb anomalies:Autosomal Recessive","HIGH","-~-~608488~-","SMOC1"]
["SMOC2","Dental developmental defects","Dentin dysplasia, type I","Autosomal Recessive","Dentin dysplasia, type I:Autosomal Recessive$Dentin dysplasia:Autosomal Recessive","Dentin dysplasia:Autosomal Recessive","HIGH","-~-~607223~-","SMOC2"]
["SMOC2","Oligodontia","Partial congenital absence of teeth","Autosomal Recessive","Dentin dysplasia, type I:Autosomal Recessive$Dentin dysplasia:Autosomal Recessive","Dentin dysplasia:Autosomal Recessive","HIGH","-~-~607223~-","SMOC2"]
["SMPD1","Niemann-Pick disease","Niemann-Pick disease, type A;Niemann-Pick disease, type B","Autosomal Recessive","Niemann-Pick disease, type A:Autosomal Recessive$Niemann-Pick disease, type B:Autosomal Recessive$Niemann-Pick disease:Autosomal Recessive","Niemann-Pick disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6609[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1370~607608~-","SMPD1"]
["SMPD1","Sphingomyelinase deficiency","Sphingomyelin/cholesterol lipidosis","Autosomal Recessive","Niemann-Pick disease, type A:Autosomal Recessive$Niemann-Pick disease, type B:Autosomal Recessive$Niemann-Pick disease:Autosomal Recessive","Niemann-Pick disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6609[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1370~607608~-","SMPD1"]
["SMPX","Progressive hearing impairment","Hearing loss, progressive","X-linked Dominant","Deafness, X-Linked 4:X-linked dominant$Deafness:X-linked dominant","Deafness:X-linked dominant","HIGH","-~-~300226~-","SMPX"]
["SMPX","Progressive hearing loss, X-linked","Hearing loss, progressive","X-linked Dominant","Deafness, X-Linked 4:X-linked dominant$Deafness:X-linked dominant","Deafness:X-linked dominant","HIGH","-~-~300226~-","SMPX"]
["SMPX","X-chromosomal hearing loss","Hearing loss","X-linked Dominant","Deafness, X-Linked 4:X-linked dominant$Deafness:X-linked dominant","Deafness:X-linked dominant","HIGH","-~-~300226~-","SMPX"]
["SMS","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive$Snyder Robinson syndrome:X-linked Recessive","Mental retardation:X-linked Recessive$Snyder Robinson syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6611[geneid]~-~300105~-","SMS"]
["SMS","Snyder-Robinson syndrome","Snyder Robinson syndrome","X-linked Recessive","Mental retardation:X-linked Recessive$Snyder Robinson syndrome:X-linked Recessive","Mental retardation:X-linked Recessive$Snyder Robinson syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6611[geneid]~-~300105~-","SMS"]
["SMUG1","Increased  blood DNA uracil concentrations","Malignant neoplastic disease","Risk",null,null,"HIGH","-~-~607753~-","SMUG1"]
["SNAI2","Neural tube defect","Neural tube defect","Risk","Partial albinism:Autosomal Dominant$Waardenburg Syndrome, Type 2D:Autosomal Recessive$Waardenburg's syndrome:Autosomal Recessive","Partial albinism:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive","HIGH","-~-~602150~-","SNAI2"]
["SNAI2","Partial albinism","Partial albinism","Autosomal Dominant","Partial albinism:Autosomal Dominant$Waardenburg Syndrome, Type 2D:Autosomal Recessive$Waardenburg's syndrome:Autosomal Recessive","Partial albinism:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive","HIGH","-~-~602150~-","SNAI2"]
["SNAI2","Waardenburg Syndrome, Type 2D","Waardenburg Syndrome, Type 2D","Autosomal Recessive","Partial albinism:Autosomal Dominant$Waardenburg Syndrome, Type 2D:Autosomal Recessive$Waardenburg's syndrome:Autosomal Recessive","Partial albinism:Autosomal Dominant$Waardenburg's syndrome:Autosomal Recessive","HIGH","-~-~602150~-","SNAI2"]
["SNAP29","CEDNIK syndrome","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome","Autosomal Recessive","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9342[geneid]~-~604202~-","SNAP29"]
["SNAP29","Cleft lip and palate","Orofacial cleft","Autosomal Recessive","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9342[geneid]~-~604202~-","SNAP29"]
["SNAP29","Cryptorchidism","Undescended testicle","Autosomal Dominant","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9342[geneid]~-~604202~-","SNAP29"]
["SNAP29","Cryptorchidism","NULL","Need full text PMID 19350501","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9342[geneid]~-~604202~-","SNAP29"]
["SNAP29","Cryptorchidism and hypospadia","Undescended testicle;Hypospadias","Autosomal Dominant","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9342[geneid]~-~604202~-","SNAP29"]
["SNAP29","Cryptorchidism and hypospadia","NULL","Need full text PMID 19350501","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9342[geneid]~-~604202~-","SNAP29"]
["SNAPC5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605979~-","SNAPC5"]
["SNCA","Diffuse Lewy body disease","Diffuse Lewy body disease","Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson Disease 4, Autosomal Dominant Lewy Body:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~163890~-","SNCA"]
["SNCA","Increased expression","Parkinson's disease","Risk","Diffuse Lewy body disease:Autosomal Dominant$Parkinson Disease 4, Autosomal Dominant Lewy Body:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~163890~-","SNCA"]
["SNCA","Parkinson disease","Parkinson Disease 4, Autosomal Dominant Lewy Body;Parkinson's disease","Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson Disease 4, Autosomal Dominant Lewy Body:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~163890~-","SNCA"]
["SNCA","Parkinson disease","Parkinson Disease, Familial, Type 1;Parkinson's disease","Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson Disease 4, Autosomal Dominant Lewy Body:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~163890~-","SNCA"]
["SNCA","Parkinson disease, young-onset","Parkinson's disease","Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson Disease 4, Autosomal Dominant Lewy Body:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~163890~-","SNCA"]
["SNCB","Dementia with Lewy bodies","Diffuse Lewy body disease","Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant","Diffuse Lewy body disease:Autosomal Dominant","HIGH","-~-~602569~-","SNCB"]
["SNIP1","Symptomatic epilepsy & skull dysplasia","Psychomotor retardation, epilepsy, and craniofacial dysmorphism","Autosomal Recessive","Psychomotor retardation, epilepsy, and craniofacial dysmorphism:Autosomal Recessive","Psychomotor retardation, epilepsy, and craniofacial dysmorphism:Autosomal Recessive","HIGH","-~-~608241~-","SNIP1"]
["SNRK","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612760~-","SNRK"]
["SNRNP200","Retinitis pigmentosa, Autosomal Dominant","Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 33:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601664~-","SNRNP200"]
["SNRPE","Hypotrichosis simplex, Autosomal Dominant","Hypotrichosis simplex","Autosomal Dominant","Hypotrichosis simplex:Autosomal Dominant","Hypotrichosis simplex:Autosomal Dominant","HIGH","-~-~128260~-","SNRPE"]
["SNRPN","Phenotype modifier","NULL","No record in HGMD for this entry","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6638[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1442~182279~-","SNRPN"]
["SNRPN","Prader-Willi syndrome","Prader-Willi syndrome","Autosomal Dominant","Prader-Willi syndrome:Autosomal Dominant","Prader-Willi syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6638[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1442~182279~-","SNRPN"]
["SNTA1","Cardiac arrhythmia","Conduction disorder of the heart","Autosomal Dominant","Long QT Syndrome 12:Autosomal Dominant$Long QT Syndrome:Autosomal Dominant","Long QT Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6640[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~601017~-","SNTA1"]
["SNTA1","Long QT syndrome","Long QT Syndrome 12;Long QT syndrome","Autosomal Dominant","Long QT Syndrome 12:Autosomal Dominant$Long QT Syndrome:Autosomal Dominant","Long QT Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6640[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~601017~-","SNTA1"]
["SNTA1","Sudden infant death syndrome","Sudden infant death syndrome","Autosomal Dominant","Long QT Syndrome 12:Autosomal Dominant$Long QT Syndrome:Autosomal Dominant","Long QT Syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6640[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1129~601017~-","SNTA1"]
["SNTG1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608714~-","SNTG1"]
["SNX10","Osteopetrosis","Osteopetrosis","Autosomal Recessive","Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~614780~-","SNX10"]
["SNX10","Osteopetrosis & corpus callosum hypoplasia","Osteopetrosis;Hypoplasia of corpus callosum","Autosomal Recessive","Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~614780~-","SNX10"]
["SNX10","Osteopetrosis, infantile, Autosomal Recessive","Osteopetrosis","Autosomal Recessive","Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~614780~-","SNX10"]
["SNX5","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605937~-","SNX5"]
["SOBP","Intellectual disability","Intellectual Disability;Mental retardation, anterior maxillary protrusion, and strabismus","Autosomal Recessive","Mental retardation, anterior maxillary protrusion, and strabismus:Autosomal Recessive","Mental retardation, anterior maxillary protrusion, and strabismus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55084[geneid]~-~613667~-","SOBP"]
["SOCS3","Polycythaemia vera","Polycythemia vera","Modifier",null,null,"HIGH","-~-~604176~-","SOCS3"]
["SOD1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis 1","Autosomal Recessive","Amyotrophic lateral sclerosis 1:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~147450~-","SOD1"]
["SOD1","Motor neuron disease","Motor neuron disease","Autosomal Recessive","Amyotrophic lateral sclerosis 1:Autosomal Dominant;Autosomal Recessive$Amyotrophic lateral sclerosis 1","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~147450~-","SOD1"]
["SOD1","Reduced expression","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis 1:Autosomal Dominant;Autosomal Recessive$Amyotrophic lateral sclerosis 1","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~147450~-","SOD1"]
["SOD2","Altered stability","Drug Response","Pharmacogenetic","Diabetic renal disease:Risk","Diabetic renal disease:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6648[geneid]~-~147460~-","SOD2"]
["SOD2","Microvascular complications of diabetes 6","Diabetic renal disease","Risk","Diabetic renal disease:Risk","Diabetic renal disease:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6648[geneid]~-~147460~-","SOD2"]
["SOHLH1","Azoospermia, non-obstructive","Azoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~610224~-","SOHLH1"]
["SORCS1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606283~-","SORCS1"]
["SORL1","Alzheimer disease, early onset","Familial Alzheimer's disease of early onset","Autosomal Dominant","Alzheimer's Disease:Risk","Alzheimer's Disease:Risk","HIGH","-~-~602005~-","SORL1"]
["SOS1","Autism spectrum disorder","Autistic Disorder","Risk","Gingival fibromatosis:Autosomal Dominant$Noonan syndrome 4:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~182530~-","SOS1"]
["SOS1","Cardio-facio-cutaneous syndrome","Cardio-facio-cutaneous syndrome","Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan syndrome 4:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~182530~-","SOS1"]
["SOS1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan syndrome 4:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~182530~-","SOS1"]
["SOS1","Gingival fibromatosis","Gingival fibromatosis","Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan syndrome 4:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~182530~-","SOS1"]
["SOS1","Noonan syndrome","Noonan Syndrome 4;Noonan's syndrome","Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan syndrome 4:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","Gingival fibromatosis:Autosomal Dominant$Noonan's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6654[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1124~182530~-","SOS1"]
["SOST","Craniodiaphyseal dysplasia, Autosomal Dominant","Craniodiaphyseal dysplasia","Autosomal Dominant","Craniodiaphyseal Dysplasia, Autosomal Dominant:Autosomal Dominant$Craniodiaphyseal dysplasia:Autosomal Dominant$Sclerosteosis:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Recessive","Craniodiaphyseal dysplasia:Autosomal Dominant$Sclerosteosis:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1228~605740~-","SOST"]
["SOST","Sclerosteosis","Sclerosteosis","Autosomal Recessive","Craniodiaphyseal Dysplasia, Autosomal Dominant:Autosomal Dominant$Craniodiaphyseal dysplasia:Autosomal Dominant$Sclerosteosis:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Recessive","Craniodiaphyseal dysplasia:Autosomal Dominant$Sclerosteosis:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1228~605740~-","SOST"]
["SOST","van Buchem disease","Hyperphosphatasemia tarda","Autosomal Recessive","Craniodiaphyseal Dysplasia, Autosomal Dominant:Autosomal Dominant$Craniodiaphyseal dysplasia:Autosomal Dominant$Sclerosteosis:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Recessive","Craniodiaphyseal dysplasia:Autosomal Dominant$Sclerosteosis:Autosomal Recessive$Hyperphosphatasemia tarda:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1228~605740~-","SOST"]
["SOX10","Cochlear nerve aplasia, CNS hypomyelination, & hyperpigmentation","Waardenburg Syndrome, Type 2E","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Hirschsprung disease","Hirschsprung's disease","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Kallmann syndrome with deafness","Hypogonadism with anosmia;Deafness","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Kallmann syndrome without deafness","Hypogonadism with anosmia","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","PCW","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","PCWH","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Peripheral neuropathy with hypomyelination","Peripheral neuropathy;Hypomyelination","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Shah-Waardenburg syndrome","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Shah-Waardenburg syndrome and neuropathy","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Waardenburg syndrome 2","Waardenburg Syndrome, Type 2E","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Waardenburg syndrome 4","Waardenburg syndrome, type 4","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX10","Yemenite deaf-blind hypopigmentation syndrome","Yemenite deaf-blind hypopigmentation syndrome","Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg Syndrome, Type 2E:Autosomal Dominant$Waardenburg Syndrome, Type 4C:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:Autosomal Dominant$Waardenburg's syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6663[geneid]~-~602229~-","SOX10"]
["SOX17","Congenital anomalies of the kidney and urinary tract","Cakut","Autosomal Dominant","Vesicoureteric reflux:Autosomal Dominant","Vesicoureteric reflux:Autosomal Dominant","HIGH","-~-~610928~-","SOX17"]
["SOX18","Hypotrichosis-Lymphoedema-Telangiectasia","Hypotrichosis-Lymphedema-Telangiectasia Syndrome","Autosomal Dominant","Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Dominant$Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Recessive","Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Dominant$Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Recessive","HIGH","-~-~601618~-","SOX18"]
["SOX18","Hypotrichosis-Lymphoedema-Telangiectasia","Hypotrichosis-Lymphedema-Telangiectasia Syndrome","Autosomal Recessive","Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Dominant$Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Recessive","Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Dominant$Hypotrichosis-Lymphedema-Telangiectasia Syndrome:Autosomal Recessive","HIGH","-~-~601618~-","SOX18"]
["SOX2","Anophthalmia","Anophthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Anophthalmia / microphthalmia","Anophthalmos;Microphthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Anophthalmia, hearing loss and brain abnormalities","Anophthalmos;Hearing loss","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Anophthalmia-esophageal-genital syndrome","Microphthalmia, Syndromic 3","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Anophthalmia-oesophageal-genital syndrome","Microphthalmia, Syndromic 3","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Hypothalamo-pituitary-gonadal axis abnormalities","Hypothalamic-pituitary-gonadal axis dysfunction","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Microphthalmia","Microphthalmos","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","Ocular coloboma","Coloboma of eye","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX2","SOX2 anophthalmia syndrome","Anophthalmos;Supernumerary tooth;Impacted tooth","Autosomal Dominant","Microphthalmos:Autosomal Dominant$Microphthalmia, Syndromic 3:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","Microphthalmos:Autosomal Dominant$Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6657[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378$http://www.ncbi.nlm.nih.gov/books/NBK1300~184429~-","SOX2"]
["SOX3","Hypopituitarism","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency;Panhypopituitarism - X-linked","X-linked Recessive","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency:X-linked Recessive$Panhypopituitarism - X-linked:X-linked Recessive$Panhypopituitarism:X-linked Recessive$Mental retardation:X-linked Recessive","Panhypopituitarism:X-linked Recessive$Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6658[geneid]~-~313430~-","SOX3"]
["SOX6","Craniosynostosis","Craniosynostosis syndrome","Autosomal Dominant",null,null,"HIGH","-~-~607257~-","SOX6"]
["SOX7","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612202~-","SOX7"]
["SOX9","Acampomelic campomelic dysplasia","Acampomelic Campomelic Dysplasia","Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6662[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1760~608160~-","SOX9"]
["SOX9","Acampomelic campomelic dysplasia with true hermaphroditism","Acampomelic Campomelic Dysplasia;True hermaphroditism","Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6662[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1760~608160~-","SOX9"]
["SOX9","Campomelic dysplasia","Camptomelic dysplasia","Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6662[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1760~608160~-","SOX9"]
["SOX9","Campomelic dysplasia with XY reversal","Campomelic Dysplasia with Autosomal Sex Reversal","Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","Acampomelic Campomelic Dysplasia:Autosomal Dominant$Campomelic Dysplasia with Autosomal Sex Reversal:Autosomal Dominant$Campomelic dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6662[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1760~608160~-","SOX9"]
["SP100","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604585~-","SP100"]
["SP110","Hepatic veno-occlusive disease with immunodeficiency","Hepatic venoocclusive disease with immunodeficiency","Autosomal Recessive","Hepatic venoocclusive disease with immunodeficiency:Autosomal Recessive","Hepatic venoocclusive disease with immunodeficiency:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1271~604457~-","SP110"]
["SP7","Osteogenesis imperfecta, recessive","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=121340[geneid]~-~606633~-","SP7"]
["SPAG16","Instability of central apparatus proteins","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~612173~-","SPAG16"]
["SPAG17","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=200162[geneid]~-~-~-","SPAG17"]
["SPAST","Spastic paraparesis","Spastic paraparesis","Autosomal Dominant","Spastic paraplegia 4, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1160~604277~-","SPAST"]
["SPAST","Spastic paraplegia","Spastic paraplegia 4, Autosomal Dominant;Spastic paraplegia","Autosomal Dominant","Spastic paraplegia 4, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1160~604277~-","SPAST"]
["SPAST","Spastic paraplegia 4","Spastic paraplegia 4, Autosomal Dominant","Autosomal Dominant","Spastic paraplegia 4, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1160~604277~-","SPAST"]
["SPAST","Spastic paraplegia, Autosomal Dominant","Spastic paraplegia 4, Autosomal Dominant","Autosomal Dominant","Spastic paraplegia 4, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1160~604277~-","SPAST"]
["SPAST","Spastic paraplegia, silver syndrome type","Spastic paraplegia;Russell-Silver syndrome","Autosomal Dominant","Spastic paraplegia 4, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1160~604277~-","SPAST"]
["SPAST","Upper motor neuron syndrome, adult onset","Upper motor neuron disease","Autosomal Dominant","Spastic paraplegia 4, Autosomal Dominant:Autosomal Dominant$Spastic paraplegia:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6683[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1160~604277~-","SPAST"]
["SPATA13","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613324~-","SPATA13"]
["SPATA16","Globozoospermia","Globozoospermia","Autosomal Recessive","Globozoospermia:Autosomal Recessive","Globozoospermia:Autosomal Recessive","HIGH","-~-~609856~-","SPATA16"]
["SPATA21","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","SPATA21"]
["SPATA32","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","SPATA32"]
["SPATA7","Leber congenital amaurosis","Leber congenital amaurosis type 3","Autosomal Recessive","Leber congenital amaurosis type 3:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55812[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~609868~-","SPATA7"]
["SPATA7","Leber congenital amaurosis & early-onset retinal dystrophy","Leber congenital amaurosis type 3;Retinitis pigmentosa","Autosomal Recessive","Leber congenital amaurosis type 3:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55812[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~609868~-","SPATA7"]
["SPATA7","Leber congenital amaurosis IV","Leber Congenital Amaurosis 4","Autosomal Recessive","Leber congenital amaurosis type 3:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55812[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~609868~-","SPATA7"]
["SPATA7","Retiniitis pigmentosa, juvenile","Retinitis pigmentosa","Autosomal Recessive","Leber congenital amaurosis type 3:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55812[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~609868~-","SPATA7"]
["SPATA7","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Leber congenital amaurosis type 3:Autosomal Recessive$Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55812[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~609868~-","SPATA7"]
["SPERT","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","SPERT"]
["SPG11","Kjellin syndrome","Spastic paraplegia 15, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80208[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1210~610844~-","SPG11"]
["SPG11","Spastic paraplegia with thin corpus callosum","Spastic paraplegia 11, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80208[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1210~610844~-","SPG11"]
["SPG11","Spastic paraplegia, Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive","Autosomal Recessive","Spastic paraplegia 11, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80208[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1210~610844~-","SPG11"]
["SPG20","Troyer syndrome","Troyer syndrome","Autosomal Recessive","Troyer syndrome:Autosomal Recessive","Troyer syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23111[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1382~607111~-","SPG20"]
["SPG21","Mast syndrome","MAST Syndrome","Autosomal Recessive","MAST Syndrome:Autosomal Recessive","MAST Syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51324[geneid]~-~608181~-","SPG21"]
["SPG7","Spastic paraplegia","Spastic Paraplegia 7, Autosomal Recessive","Autosomal Recessive","Spastic Paraplegia 7, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6687[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1107~602783~-","SPG7"]
["SPG7","Upper motor neuron syndrome","Upper motor neuron disease","Autosomal Recessive","Spastic Paraplegia 7, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6687[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1107~602783~-","SPG7"]
["SPINK1","Pancreatitis","Hereditary pancreatitis","Autosomal Recessive","Hereditary pancreatitis:Autosomal Recessive$Tropical Calcific Pancreatitis:Autosomal Recessive","Hereditary pancreatitis:Autosomal Recessive$Tropical Calcific Pancreatitis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6690[geneid]~-~167790~-","SPINK1"]
["SPINK1","Pancreatitis, chronic","Familial chronic pancreatitis","Autosomal Dominant","Hereditary pancreatitis:Autosomal Recessive$Tropical Calcific Pancreatitis:Autosomal Recessive","Hereditary pancreatitis:Autosomal Recessive$Tropical Calcific Pancreatitis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6690[geneid]~-~167790~-","SPINK1"]
["SPINK1","Tropical Calcific Pancreatitis","Tropical Calcific Pancreatitis","Autosomal Recessive","Hereditary pancreatitis:Autosomal Recessive$Tropical Calcific Pancreatitis:Autosomal Recessive","Hereditary pancreatitis:Autosomal Recessive$Tropical Calcific Pancreatitis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6690[geneid]~-~167790~-","SPINK1"]
["SPINK5","Netherton syndrome","Netherton's syndrome","Autosomal Recessive","Atopy:Autosomal Dominant$Netherton's syndrome:Autosomal Recessive","Atopy:Autosomal Dominant$Netherton's syndrome:Autosomal Recessive","HIGH","-~-~605010~-","SPINK5"]
["SPINT2","Sodium diarrhoea","Diarrhea","Autosomal Recessive","Diarrhea 3, Secretory Sodium, Congenital, Syndromic:Autosomal Recessive$Congenital secretory diarrhea, sodium type:Autosomal Recessive","Congenital secretory diarrhea, sodium type:Autosomal Recessive","HIGH","-~-~605124~-","SPINT2"]
["SPP1","Lower apoB levels","Myocardial infarction","Risk",null,null,"HIGH","-~-~609150~-","CXXC1"]
["SPP2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602637~-","SPP2"]
["SPR","Dystonia, dopa-responsive","Sepiapterin reductase deficiency;Dystonia, Dopa-responsive","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6697[geneid]~-~182125~-","SPR"]
["SPR","Sepiapterin reductase deficiency","Sepiapterin reductase deficiency;Dystonia, Dopa-responsive","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6697[geneid]~-~182125~-","SPR"]
["SPR","Tetrahydrobiopterin deficiency","6-Pyruvoyl-tetrahydrobiopterin synthase deficiency","Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6697[geneid]~-~182125~-","SPR"]
["SPRED1","Cafe-au-lait macules","Cafe-au-lait macules","Autosomal Dominant","Legius syndrome:Autosomal Dominant","Legius syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=161742[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47312~609291~-","SPRED1"]
["SPRED1","Legius syndrome","Legius syndrome","Autosomal Dominant","Legius syndrome:Autosomal Dominant","Legius syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=161742[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47312~609291~-","SPRED1"]
["SPRED1","Neurofibromatosis 1-like syndrome","Legius syndrome","Autosomal Dominant","Legius syndrome:Autosomal Dominant","Legius syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=161742[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK47312~609291~-","SPRED1"]
["SPRN","Creutzfeldt-Jakob disease, variant","Variant Creutzfeldt-Jakob disease","Risk","Variant Creutzfeldt-Jakob disease:Risk","Variant Creutzfeldt-Jakob disease:Risk","HIGH","-~-~610447~-","SPRN"]
["SPRY2","Cleft lip","Cleft lip","Risk",null,null,"HIGH","-~-~602466~-","SPRY2"]
["SPRY3","Altered meiotic recombination hotspot usage","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~300531~-","SPRY3"]
["SPRY4","Hypogonadotropic hypogonadism, idiopathic","Idiopathic hypogonadotropic hypogonadism","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","-~-~607984~-","SPRY4"]
["SPRY4","Kallmann syndrome","Hypogonadism with anosmia","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Kallmann Syndrome:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","Hypogonadism with anosmia:Autosomal Dominant$Hypogonadotropic hypogonadism:Autosomal Dominant","HIGH","-~-~607984~-","SPRY4"]
["SPTA1","Elliptocytosis","Elliptocytosis 2;Elliptocytosis","Autosomal Dominant","Elliptocytosis:Autosomal Dominant$Elliptocytosis 2:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis, Type 3:Autosomal Recessive$Spherocytosis:Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis:Autosomal Recessive","HIGH","-~-~182860~-","SPTA1"]
["SPTA1","Poikilocytic anaemia","Hereditary pyropoikilocytosis","Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Elliptocytosis 2:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis, Type 3:Autosomal Recessive$Spherocytosis:Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis:Autosomal Recessive","HIGH","-~-~182860~-","SPTA1"]
["SPTA1","Pyropoikilocytosis","Hereditary pyropoikilocytosis","Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Elliptocytosis 2:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis, Type 3:Autosomal Recessive$Spherocytosis:Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis:Autosomal Recessive","HIGH","-~-~182860~-","SPTA1"]
["SPTA1","Reduced expression","Hereditary elliptocytosis","Modifier","Elliptocytosis:Autosomal Dominant$Elliptocytosis 2:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis, Type 3:Autosomal Recessive$Spherocytosis:Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis:Autosomal Recessive","HIGH","-~-~182860~-","SPTA1"]
["SPTA1","Spherocytosis","Spherocytosis, Type 3","Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Elliptocytosis 2:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis, Type 3:Autosomal Recessive$Spherocytosis:Autosomal Recessive","Elliptocytosis:Autosomal Dominant$Hereditary pyropoikilocytosis:Autosomal Recessive$Spherocytosis:Autosomal Recessive","HIGH","-~-~182860~-","SPTA1"]
["SPTAN1","Epilepsy, generalised, and pontocerebellar atrophy","Generalised epilepsy;Pontocerebellar atrophy","Autosomal Dominant","Epileptic encephalopathy, early infantile, 5:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6709[geneid]~-~182810~-","SPTAN1"]
["SPTAN1","Intellectual disability","Intellectual Disability","Autosomal Dominant","Epileptic encephalopathy, early infantile, 5:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6709[geneid]~-~182810~-","SPTAN1"]
["SPTAN1","West syndrome & cerebral hypomyelination","West syndrome;Hypomyelination, Global Cerebral","Autosomal Dominant","Epileptic encephalopathy, early infantile, 5:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6709[geneid]~-~182810~-","SPTAN1"]
["SPTB","Elliptocytosis","Hereditary elliptocytosis due to beta spectrin defect in self-association","Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis 3:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","HIGH","-~-~182870~-","SPTB"]
["SPTB","Hydrops fetalis","Hydrops fetalis","Autosomal Recessive","Hemolytic anemia:Autosomal Dominant$Elliptocytosis 3:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","HIGH","-~-~182870~-","SPTB"]
["SPTB","Spectrin variant","Hereditary elliptocytosis","Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis 3:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","HIGH","-~-~182870~-","SPTB"]
["SPTB","Spectrin variant","Hereditary pyropoikilocytosis","Autosomal Recessive","Hemolytic anemia:Autosomal Dominant$Elliptocytosis 3:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","HIGH","-~-~182870~-","SPTB"]
["SPTB","Spherocytosis","Hereditary spherocytosis","Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis 3:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","Hemolytic anemia:Autosomal Dominant$Elliptocytosis:Autosomal Dominant$Spherocytosis:Autosomal Dominant","HIGH","-~-~182870~-","SPTB"]
["SPTBN2","Spinocerebellar ataxia type 5","Spinocerebellar Ataxia 5;Spinocerebellar ataxia","Autosomal Dominant","Spinocerebellar Ataxia 5:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant$Spinocerebellar ataxia 14:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6712[geneid]~-~604985~-","SPTBN2"]
["SPTBN2","Spinocerebellar ataxia, Autosomal Recessive 14","Spinocerebellar ataxia","Autosomal Recessive","Spinocerebellar Ataxia 5:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant$Spinocerebellar ataxia 14:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6712[geneid]~-~604985~-","SPTBN2"]
["SPTBN5","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605916~-","SPTBN5"]
["SPTLC1","Neuropathy, hereditary sensory","Hereditary sensory neuropathy","Autosomal Dominant","Hereditary Sensory Neuropathy Type I:Autosomal Dominant","Hereditary Sensory Neuropathy Type I:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10558[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1390~605712~-","SPTLC1"]
["SPTLC1","Neuropathy, hereditary sensory, type I","Hereditary sensory and autonomic neuropathy type I","Autosomal Dominant","Hereditary Sensory Neuropathy Type I:Autosomal Dominant","Hereditary Sensory Neuropathy Type I:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10558[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1390~605712~-","SPTLC1"]
["SPTLC1","Sensory and autonomic neuropathy","Hereditary sensory and autonomic neuropathy type I","Autosomal Dominant","Hereditary Sensory Neuropathy Type I:Autosomal Dominant","Hereditary Sensory Neuropathy Type I:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10558[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1390~605712~-","SPTLC1"]
["SPTLC2","Sensory and autonomic neuropathy type I","Hereditary sensory and autonomic neuropathy type I","Autosomal Dominant","Hereditary Sensory Autonomic Neuropathy, Type 1:Autosomal Dominant","Hereditary Sensory Autonomic Neuropathy, Type 1:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9517[geneid]~-~605713~-","SPTLC2"]
["SQSTM1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Osteitis deformans:Autosomal Dominant","Osteitis deformans:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8878[geneid]~-~601530~-","SQSTM1"]
["SQSTM1","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Autosomal Dominant","Osteitis deformans:Autosomal Dominant","Osteitis deformans:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8878[geneid]~-~601530~-","SQSTM1"]
["SQSTM1","Paget disease of bone","Osteitis deformans","Autosomal Dominant","Osteitis deformans:Autosomal Dominant","Osteitis deformans:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8878[geneid]~-~601530~-","SQSTM1"]
["SRCAP","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Floating-Harbor syndrome:Autosomal Dominant","Floating-Harbor syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10847[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114458~611421~-","SRCAP"]
["SRCAP","Floating-Harbor syndrome","Floating-Harbor syndrome","Autosomal Dominant","Floating-Harbor syndrome:Autosomal Dominant","Floating-Harbor syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10847[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114458~611421~-","SRCAP"]
["SRD5A3","Cerebellar ataxia & congenital eye malformations","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities","Autosomal Recessive","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities:Autosomal Recessive$Kahrizi Syndrome:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities:Autosomal Recessive$Kahrizi Syndrome:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~611715~-","SRD5A3"]
["SRD5A3","Congenital disorder of glycosylation","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities","Autosomal Recessive","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities:Autosomal Recessive$Kahrizi Syndrome:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities:Autosomal Recessive$Kahrizi Syndrome:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~611715~-","SRD5A3"]
["SRD5A3","Kahrizi syndrome","Kahrizi Syndrome","Autosomal Recessive","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities:Autosomal Recessive$Kahrizi Syndrome:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities:Autosomal Recessive$Kahrizi Syndrome:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~611715~-","SRD5A3"]
["SREBF1","Diabetes, type 2","Disorder of lipid metabolism in Diabetes mellitus type 2","Risk",null,null,"HIGH","-~-~184756~-","SREBF1"]
["SREBF1","Hypolipidaemia, primary combined","Hypobetalipoproteinemia, Familial, 2","Autosomal Dominant",null,null,"HIGH","-~-~184756~-","SREBF1"]
["SREBF2","Hypercholesterolaemia","Hypercholesterolemia","Autosomal Dominant",null,null,"HIGH","-~-~600481~-","SREBF2"]
["SRGAP1","Papillary thyroid carcinoma, susceptibility to","Papillary thyroid carcinoma","Risk",null,null,"HIGH","-~-~606523~-","SRGAP1"]
["SRGAP3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606525~-","SRGAP3"]
["SRGAP3","SLIT-ROBO gap 3 deficiency","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~606525~-","SRGAP3"]
["SRI","Cardiomyopathy, hypertropic","Hypertrophic cardiomyopathy","Risk",null,null,"HIGH","-~-~182520~-","SRI"]
["SRPX2","Autism spectrum disorder","Autistic Disorder","Risk","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked:X-linked Recessive","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27286[geneid]~-~300642~-","SRPX2"]
["SRPX2","Rolandic epilepsy, bilateral perisylvian polymicrogyria","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked","X-linked Recessive","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked:X-linked Recessive","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27286[geneid]~-~300642~-","SRPX2"]
["SRPX2","Rolandic epilepsy, oral dyspraxia, mental retardation","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked","X-linked Recessive","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked:X-linked Recessive","Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27286[geneid]~-~300642~-","SRPX2"]
["SRY","46, XX Gonadal Sex Reversal","46, XX Gonadal Sex Reversal","X-linked Dominant","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","46,XY disorder of sex development","Gonadal Dysgenesis, 46,XY","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","46,XY disorder of sex development with bilateral gonadoblastoma","Gonadal Dysgenesis, 46,XY;Gonadoblastoma","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","46,XY gonadal dysgenesis","Gonadal Dysgenesis, 46,XY","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","Gonadal dysgenesis","Gonadal Dysgenesis, 46,XY","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","Gonadoblastoma","Gonadoblastoma","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","Hermaphroditism","Hermaphroditism","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","Noonan syndrome","Turner syndrome","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","Primary amenorrhea","Primary physiologic amenorrhea","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","Testicular dysgenesis syndrome","Testicular dysgenesis syndrome","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SRY","XY sex reversal","Gonadal Dysgenesis, 46,XY","Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","46, XX Gonadal Sex Reversal:Y-linked$Gonadal Dysgenesis, 46,XY:Y-linked","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6736[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1547$http://www.ncbi.nlm.nih.gov/books/NBK1416~480000~-","SRY"]
["SS18L1","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Amyotrophic lateral sclerosis:Risk","Amyotrophic lateral sclerosis:Risk","HIGH","-~-~606472~-","SS18L1"]
["SSTR2","Reduced transcription","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~182452~-","SSTR2"]
["SSTR5","Increased cellular proliferation and PDX-1 overexpression","Malignant tumor of pancreas","Modifier","Somatostatin analog, resistance to:Autosomal Dominant","Somatostatin analog, resistance to:Autosomal Dominant","HIGH","-~-~182455~-","SSTR5"]
["SSTR5","Somatostatin analog resistance","Acromegaly","Modifier","Somatostatin analog, resistance to:Autosomal Dominant","Somatostatin analog, resistance to:Autosomal Dominant","HIGH","-~-~182455~-","SSTR5"]
["SSX1","Autism spectrum disorder","Autistic Disorder","Risk","Synovial sarcoma:Risk","Synovial sarcoma:Risk","HIGH","-~-~312820~-","SSX1"]
["ST14","Ichthyosis, Autosomal Recessive with hypotrichosis","Ichthyosis with hypotrichosis, Autosomal Recessive","Autosomal Recessive","Ichthyosis with hypotrichosis, Autosomal Recessive:Autosomal Recessive$Ichthyosis with hypotrichosis:Autosomal Recessive","Ichthyosis with hypotrichosis:Autosomal Recessive","HIGH","-~-~606797~-","ST14"]
["ST14","Ichthyosis, follicular atrophoderma & hypotrichosis","Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis","Autosomal Recessive","Ichthyosis with hypotrichosis, Autosomal Recessive:Autosomal Recessive$Ichthyosis with hypotrichosis:Autosomal Recessive","Ichthyosis with hypotrichosis:Autosomal Recessive","HIGH","-~-~606797~-","ST14"]
["ST3GAL3","Epileptic encephalopathy, early infantile, 15  ","Neonatal epileptic encephalopathy","Autosomal Recessive","Epileptic encephalopathy, early infantile, 15:Autosomal Recessive$Early myoclonic encephalopathy:Autosomal Recessive$Mental Retardation, Autosomal Recessive 12:Autosomal Recessive$Mental retardation:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6487[geneid]~-~606494~-","ST3GAL3"]
["ST3GAL3","Intellectual performance impairment","Mental retardation","Autosomal Recessive","Epileptic encephalopathy, early infantile, 15:Autosomal Recessive$Early myoclonic encephalopathy:Autosomal Recessive$Mental Retardation, Autosomal Recessive 12:Autosomal Recessive$Mental retardation:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6487[geneid]~-~606494~-","ST3GAL3"]
["ST3GAL3","West syndrome","West syndrome","Autosomal Recessive","Epileptic encephalopathy, early infantile, 15:Autosomal Recessive$Early myoclonic encephalopathy:Autosomal Recessive$Mental Retardation, Autosomal Recessive 12:Autosomal Recessive$Mental retardation:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6487[geneid]~-~606494~-","ST3GAL3"]
["ST3GAL5","Amish infantile epilepsy syndrome","Amish Infantile Epilepsy Syndrome","Autosomal Recessive","Amish Infantile Epilepsy Syndrome:Autosomal Recessive","Amish Infantile Epilepsy Syndrome:Autosomal Recessive","HIGH","-~-~604402~-","ST3GAL5"]
["ST8SIA2","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~602546~-","ST8SIA2"]
["STAC3","Myopathy, Native American","Native American myopathy","Autosomal Recessive","Native American myopathy:Autosomal Recessive","Native American myopathy:Autosomal Recessive",null,"-~-~615521~-","STAC3"]
["STAG1","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~604358~-","STAG1"]
["STAMBP","Microcephaly-capillary malformation syndrome","Microcephaly-capillary malformation syndrome","Autosomal Recessive","Microcephaly-capillary malformation syndrome:Autosomal Recessive","Microcephaly-capillary malformation syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10617[geneid]~-~606247~-","STAMBP"]
["STAR","Adrenal failure, neonatal","Adrenal hypofunction","Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive$Cholesterol monooxygenase (side-chain cleaving) deficiency:Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2984[geneid]~-~601330~-","STAR"]
["STAR","Adrenal insufficiency","Adrenal cortical hypofunction","Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive$Cholesterol monooxygenase (side-chain cleaving) deficiency:Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2984[geneid]~-~601330~-","GUCY2C"]
["STAR","Adrenal insufficiency & 46,XY complete sex reversal","Adrenal cortical hypofunction;46, XY Disorders of Sex Development","Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive$Cholesterol monooxygenase (side-chain cleaving) deficiency:Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2984[geneid]~-~601330~-","GUCY2C"]
["STAR","Congenital lipoid adrenal hyperplasia","Cholesterol monooxygenase (side-chain cleaving) deficiency","Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive$Cholesterol monooxygenase (side-chain cleaving) deficiency:Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2984[geneid]~-~601330~-","GUCY2C"]
["STAR","Congenital lipoid adrenal hyperplasia, nonclassical","Cholesterol monooxygenase (side-chain cleaving) deficiency","Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive$Cholesterol monooxygenase (side-chain cleaving) deficiency:Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2984[geneid]~-~601330~-","GUCY2C"]
["STAR","Increased cholesterol transfer into mitochondria","Adrenal cortical hypofunction","Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive$Cholesterol monooxygenase (side-chain cleaving) deficiency:Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2984[geneid]~-~601330~-","GUCY2C"]
["STAR","XY sex reversal and congenital lipoid adrenal hyperplasia","46, XY Disorders of Sex Development;Cholesterol monooxygenase (side-chain cleaving) deficiency","Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive$Cholesterol monooxygenase (side-chain cleaving) deficiency:Autosomal Recessive","Lipoid congenital adrenal hyperplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2984[geneid]~-~601330~-","GUCY2C"]
["STAT1","Disseminated coccidioidomycosis","Disseminated coccidioidomycosis","Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","HIGH","-~-~600555~-","STAT1"]
["STAT1","Disseminated histoplasmosis","Disseminated histoplasmosis capsulati","Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","HIGH","-~-~600555~-","STAT1"]
["STAT1","Impaired mycobacterial immunity","Mycobacterial and viral infections","Risk","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","HIGH","-~-~600555~-","STAT1"]
["STAT1","IPEX-like syndrome","Insulin-dependent diabetes mellitus secretory diarrhea syndrome - like","Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","HIGH","-~-~600555~-","STAT1"]
["STAT1","Mucocutaneous candidiasis","Familial chronic mucocutaneous candidiasis","Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","HIGH","-~-~600555~-","STAT1"]
["STAT1","STAT1 deficiency","Mycobacterial and viral infections","Autosomal Recessive","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","Familial chronic mucocutaneous candidiasis:Autosomal Dominant$Mycobacterial and viral infections, susceptibility to, Autosomal Recessive:Autosomal Recessive$Familial Atypical Mycobacteriosis:Autosomal Dominant","HIGH","-~-~600555~-","STAT1"]
["STAT2","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~600556~-","STAT2"]
["STAT2","STAT2 deficiency","Immunodeficiency","Autosomal Recessive",null,null,"HIGH","-~-~600556~-","STAT2"]
["STAT3","Hyper-IgE syndrome","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant","Autosomal Dominant","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant:Autosomal Dominant","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6774[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25507~102582~-","STAT3"]
["STAT3","STAT3 deficiency","Congenital vascular anomaly","Autosomal Dominant","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant:Autosomal Dominant","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6774[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK25507~102582~-","STAT3"]
["STAT5B","Growth hormone insensitivity","Laron syndrome type 2","Autosomal Recessive","Laron syndrome type 2:Autosomal Recessive","Laron syndrome type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6777[geneid]~-~604260~-","STAT5B"]
["STEAP3","Anaemia, hypochromic","Anemia, Hypochromic Microcytic, With Iron Overload","Autosomal Dominant","Anemia, Hypochromic Microcytic, With Iron Overload:Autosomal Dominant","Anemia, Hypochromic Microcytic, With Iron Overload:Autosomal Dominant","HIGH","-~-~609671~-","STEAP3"]
["STIL","Primary microcephaly","Microcephaly, Primary Autosomal Recessive, 7","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 7:Autosomal Recessive$Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6491[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~181590~-","STIL"]
["STIM1","Immunodeficiency, autoimmune disease and myopathy","Immunodeficiency disorder","Autosomal Recessive","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6786[geneid]~-~605921~-","STIM1"]
["STIM1","Kaposi sarcoma","Kaposi's sarcoma","Autosomal Recessive","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6786[geneid]~-~605921~-","STIM1"]
["STIM1","Stromal interaction molecule 1 deficiency","Autoimmunity;Immunodeficiency disorder","Autosomal Recessive","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6786[geneid]~-~605921~-","STIM1"]
["STIM1","Tubular Aggregate Myopathy","Tubular Aggregate Myopathy","Autosomal Dominant","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6786[geneid]~-~605921~-","STIM1"]
["STIM1","Tubular-aggregate myopathy","Tubular Aggregate Myopathy","Autosomal Dominant","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","Immunodeficiency disorder:Autosomal Recessive$Tubular Aggregate Myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6786[geneid]~-~605921~-","STIM1"]
["STK11","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Risk","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6794[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1266~602216~-","STK11"]
["STK11","Gastrointestinal polyposis","Diffuse gastrointestinal polyposis disease","Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6794[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1266~602216~-","STK11"]
["STK11","Gonadotrophin-independent precocious puberty","Sertoli-Leydig cell tumor of ovary","Risk","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6794[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1266~602216~-","STK11"]
["STK11","Peutz-Jeghers syndrome","Peutz-Jeghers syndrome","Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6794[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1266~602216~-","STK11"]
["STK11","Peutz-Jeghers syndrome with pancreatic cancer","Peutz-Jeghers syndrome;Malignant neoplasm of pancreas","Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","Malignant melanoma:Autosomal Dominant$Malignant tumor of pancreas:Autosomal Dominant$Peutz-Jeghers syndrome:Autosomal Dominant$Benign neoplasm of testis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6794[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1266~602216~-","STK11"]
["STK4","Epidermodysplasia verruciformis - human papillomavirus infections, susceptibility to","Epidermodysplasia Verruciformis;Human papilloma virus infection","Risk","Primary immune deficiency disorder:Autosomal Recessive$T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations:Autosomal Recessive","Primary immune deficiency disorder:Autosomal Recessive$T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations:Autosomal Recessive","HIGH","-~-~604965~-","STK4"]
["STK4","Primary immunodeficiency syndrome","Primary immune deficiency disorder","Autosomal Recessive","Primary immune deficiency disorder:Autosomal Recessive$T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations:Autosomal Recessive","Primary immune deficiency disorder:Autosomal Recessive$T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations:Autosomal Recessive","HIGH","-~-~604965~-","STK4"]
["STK4","STK4 deficiency","Lymphocytopenia;Neutropenia;Congenital atrial septal defect","Autosomal Recessive","Primary immune deficiency disorder:Autosomal Recessive$T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations:Autosomal Recessive","Primary immune deficiency disorder:Autosomal Recessive$T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations:Autosomal Recessive","HIGH","-~-~604965~-","STK4"]
["STOX1","Preeclampsia","Preeclampsia Eclampsia 4","Autosomal Dominant","Preeclampsia Eclampsia 4:Autosomal Dominant$Toxemia of pregnancy:Autosomal Dominant","Toxemia of pregnancy:Autosomal Dominant","HIGH","-~-~609397~-","STOX1"]
["STRA6","Anophthalmia and diaphragmatic defects","Anophthalmos","Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","HIGH","-~-~610745~-","STRA6"]
["STRA6","Anophthalmia syndrome","Anophthalmos","Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","HIGH","-~-~610745~-","STRA6"]
["STRA6","Anophthalmia/microphthalmia","Anophthalmos;Microphthalmos","Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","HIGH","-~-~610745~-","STRA6"]
["STRA6","Colobomatous microanophthalmia","Microphthalmia, Isolated, with Coloboma","Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","HIGH","-~-~610745~-","STRA6"]
["STRA6","Microphthalmia","Microphthalmos","Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","HIGH","-~-~610745~-","STRA6"]
["STRA6","Microphthalmia, syndromic 9","Microphthalmos","Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","Microphthalmia, isolated, with coloboma 8:Autosomal Recessive$Anophthalmia with pulmonary hypoplasia:Autosomal Recessive","HIGH","-~-~610745~-","STRA6"]
["STRC","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 16:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=161497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22925~606440~-","STRC"]
["STRC","Hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 16:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=161497[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22925~606440~-","STRC"]
["STS","Ichthyosis","Congenital ichthyosis of skin","X-linked Dominant","X-linked Recessive ichthyosis:X-linked Recessive$Ichthyosis:X-linked Recessive","Ichthyosis:X-linked Recessive","HIGH","-~-~300747~-","STS"]
["STS","Ichthyosis, X-linked","X-linked ichthyosis with steryl-sulfatase deficiency","X-linked Dominant","X-linked Recessive ichthyosis:X-linked Recessive$Ichthyosis:X-linked Recessive","Ichthyosis:X-linked Recessive","HIGH","-~-~300747~-","STS"]
["STX11","Haemophagocytic lymphohistiocytosis, familial","Hemophagocytic lymphohistiocytosis, familial, 4","Autosomal Recessive","Hemophagocytic lymphohistiocytosis, familial, 4:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8676[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~605014~-","STX11"]
["STXBP1","Autism","Autistic Disorder","Risk","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Epileptic encephalopathy","Early myoclonic encephalopathy","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Epileptic encephalopathy, early infantile","Epileptic Encephalopathy, Early Infantile, 4","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Epileptic encephalopathy, early onset","Early myoclonic encephalopathy","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Epileptic encephalopathy, neonatal","Early infantile epileptic encephalopathy with suppression bursts","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Focal seizures, neonatal onset","Partial seizure","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Intellectual disability, nonsyndromic without epilepsy","Intellectual Disability","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Lennox-Gastaut syndrome","Lennox-Gastaut syndrome","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Mental retardation & nonsyndromic epilepsy","Mental retardation;Epilepsy","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","Ohtahara syndrome","Early infantile epileptic encephalopathy with suppression bursts","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP1","West syndrome","West syndrome","Autosomal Dominant","Epileptic Encephalopathy, Early Infantile, 4:Autosomal Dominant$Early myoclonic encephalopathy:Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6812[geneid]~-~602926~-","STXBP1"]
["STXBP2","Hemophagocytic lymphohistiocytosis","Hemophagocytic lymphohistiocytosis","Autosomal Recessive","Hemophagocytic Lymphohistiocytosis, Familial, 5:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~601717~-","STXBP2"]
["STXBP2","Hemophagocytic lymphohistiocytosis type 5","Hemophagocytic Lymphohistiocytosis, Familial, 5","Autosomal Recessive","Hemophagocytic Lymphohistiocytosis, Familial, 5:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~601717~-","STXBP2"]
["STXBP2","Hemophagocytic lymphohistiocytosis type 5, atypical","Hemophagocytic Lymphohistiocytosis, Familial, 5","Autosomal Recessive","Hemophagocytic Lymphohistiocytosis, Familial, 5:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6813[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~601717~-","STXBP2"]
["STXBP3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608339~-","STXBP3"]
["STXBP5L","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609381~-","STXBP5L"]
["SUCLA2","Autism","Autistic Disorder","Risk","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8803[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6803~603921~-","SUCLA2"]
["SUCLA2","Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive","Autosomal Recessive","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8803[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6803~603921~-","SUCLA2"]
["SUCLA2","Encephalomyopathy & mitochondrial DNA depletion","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive","Autosomal Recessive","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8803[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK6803~603921~-","SUCLA2"]
["SUCLG1","Lactic acidosis with mitochondrial DNA depletion","Mitochondrial DNA depletion syndrome 9","Autosomal Recessive","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8802[geneid]~-~611224~-","SUCLG1"]
["SUCLG1","Neonatal lactic acidosis with methylmalonic aciduria","Infantile encephalopathy AND lactic acidosis","Autosomal Recessive","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8802[geneid]~-~611224~-","SUCLG1"]
["SUCLG1","Succinyl-coenzyme A synthetase deficiency","Infantile encephalopathy;Myopathy;Liver Failure","Autosomal Recessive","Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8802[geneid]~-~611224~-","SUCLG1"]
["SUFU","Medulloblastoma, desmoplastic","Desmoplastic medulloblastoma","Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","HIGH","-~-~607035~-","SUFU"]
["SUFU","Medulloblastoma, desmoplastic/nodular","Desmoplastic medulloblastoma","Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","HIGH","-~-~607035~-","SUFU"]
["SUFU","Medulloblastoma, predisposition to","Desmoplastic medulloblastoma","Risk","Desmoplastic medulloblastoma:Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","HIGH","-~-~607035~-","SUFU"]
["SUFU","Multiple meningiomas","Meningiomatosis","Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","HIGH","-~-~607035~-","SUFU"]
["SUFU","Nevoid basal cell carcinoma syndrome","Gorlin syndrome","Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","Desmoplastic medulloblastoma:Autosomal Dominant","HIGH","-~-~607035~-","SUFU"]
["SULF1","Hyperinsulinism","Hyperinsulinism","Risk",null,null,"HIGH","-~-~610012~-","SULF1"]
["SULT1C1","Decreased protein stability","NULL","No disease associated PMID 19702579","NULL","NULL","HIGH","-~-~602385~-","SULT1C2"]
["SULT1C2 (SULT1C1)","Decreased protein stability","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~602385~-","SULT1C1"]
["SULT1C3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","SULT1C3"]
["SULT2A1","Decreased protein stability","Dehydroepiandrosterone sulfate level in Polycystic ovaries","Modifier",null,null,"HIGH","-~-~125263~17426092","SULT2A1"]
["SULT4A1","Decreased protein stability","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~608359~-","SULT4A1"]
["SUMF1","Multiple sulphatase deficiency","Multiple sulfatase deficiency","Autosomal Recessive","Multiple sulfatase deficiency:Autosomal Recessive","Multiple sulfatase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=285362[geneid]~-~607939~-","SUMF1"]
["SUOX","Autism spectrum disorder","Sulfite oxidase deficiency","Autosomal Recessive","Sulfite oxidase deficiency:Autosomal Recessive","Sulfite oxidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6821[geneid]~-~606887~-","SUOX"]
["SUOX","Sulphite oxidase deficiency","Sulfite oxidase deficiency","Autosomal Recessive","Sulfite oxidase deficiency:Autosomal Recessive","Sulfite oxidase deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6821[geneid]~-~606887~-","SUOX"]
["SUPT16H","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605012~-","SUPT16H"]
["SUPT5H","Congenital heart disease","Congenital heart disease","Autosomal Dominant",null,null,"LOW","-~-~602102~-","SUPT5H"]
["SURF1","Cytochrome c oxidase deficiency","Cytochrome-c oxidase deficiency","Autosomal Recessive","Leigh's disease:Autosomal Recessive","Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6834[geneid]~-~185620~-","SURF1"]
["SURF1","Encephalopathy","Encephalopathy","Autosomal Recessive","Leigh's disease:Autosomal Recessive","Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6834[geneid]~-~185620~-","SURF1"]
["SURF1","Hypertrichosis","Hypertrichosis","Autosomal Recessive","Leigh's disease:Autosomal Recessive","Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6834[geneid]~-~185620~-","SURF1"]
["SURF1","Leigh syndrome","Leigh's disease","Autosomal Recessive","Leigh's disease:Autosomal Recessive","Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6834[geneid]~-~185620~-","SURF1"]
["SURF1","SURF1 deficiency","Leigh's disease","Autosomal Recessive","Leigh's disease:Autosomal Recessive","Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6834[geneid]~-~185620~-","SURF1"]
["SUV420H1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610881~-","SUV420H1"]
["SUV420H1","Congenital heart disease","Congenital heart disease","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610881~-","SUV420H1"]
["SV2B","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~185861~-","SV2B"]
["SVIL","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604126~-","SVIL"]
["SYCP3","Azoospermia","Azoospermia","Autosomal Dominant","Spermatogenic arrest:Autosomal Dominant","Spermatogenic arrest:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50511[geneid]~-~604759~-","SYCP3"]
["SYCP3","Azoospermia","Spermatogenic arrest","Autosomal Dominant","Spermatogenic arrest:Autosomal Dominant","Spermatogenic arrest:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50511[geneid]~-~604759~-","SYCP3"]
["SYCP3","Recurrent pregnancy loss","Recurrent pregnancy loss","Autosomal Dominant","Spermatogenic arrest:Autosomal Dominant","Spermatogenic arrest:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50511[geneid]~-~604759~-","SYCP3"]
["SYN1","Autism / epilepsy","Autistic Disorder;Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders","X-linked Recessive","Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:X-linked Recessive","Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6853[geneid]~-~313440~-","SYN1"]
["SYN1","Autism spectrum disorder","Autistic Disorder","X-linked Recessive","Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:X-linked Recessive","Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6853[geneid]~-~313440~-","SYN1"]
["SYN1","Epilepsy","Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders","X-linked Recessive","Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:X-linked Recessive","Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6853[geneid]~-~313440~-","SYN1"]
["SYNCRIP","Intellectual disability, nonsyndromic","Intellectual Disability","Risk",null,null,null,"-~-~-~-","SYNCRIP"]
["SYNE1","Arthrogryposis","Arthrogryposis","Autosomal Recessive","Emery-Dreifuss Muscular Dystrophy 4:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia 8:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23345[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1379~608441~-","SYNE1"]
["SYNE1","Autism","Autistic Disorder","Risk","Emery-Dreifuss Muscular Dystrophy 4:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia 8:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23345[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1379~608441~-","SYNE1"]
["SYNE1","Autism spectrum disorder","Autistic Disorder","Risk","Emery-Dreifuss Muscular Dystrophy 4:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia 8:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23345[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1379~608441~-","SYNE1"]
["SYNE1","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant, Digenic","Emery-Dreifuss Muscular Dystrophy 4:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia 8:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23345[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1379~608441~-","SYNE1"]
["SYNE1","Cerebellar ataxia","Spinocerebellar ataxia 8","Autosomal Recessive","Emery-Dreifuss Muscular Dystrophy 4:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia 8:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23345[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1379~608441~-","SYNE1"]
["SYNE1","Muscular dystrophy, Emery-Dreifuss","Emery-Dreifuss Muscular Dystrophy 4","Autosomal Dominant","Emery-Dreifuss Muscular Dystrophy 4:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia 8:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Emery-Dreifuss muscular dystrophy:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23345[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1379~608441~-","SYNE1"]
["SYNE2","Muscular dystrophy, Emery-Dreifuss","Emery-Dreifuss muscular dystrophy","Autosomal Dominant","Emery-Dreifuss Muscular Dystrophy 5:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant","Emery-Dreifuss muscular dystrophy:Autosomal Dominant","HIGH","-~-~608442~-","SYNE2"]
["SYNE4","Hearing loss, high-frequency, progressive","Hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","-~-~615535~-","SYNE4"]
["SYNGAP1","Intellectual disability","Intellectual Disability","Risk","Mental Retardation, Autosomal Dominant 5:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8831[geneid]~-~603384~-","SYNGAP1"]
["SYNGAP1","Intellectual disability, nonsyndromic","Intellectual Disability","Autosomal Dominant","Mental Retardation, Autosomal Dominant 5:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8831[geneid]~-~603384~-","SYNGAP1"]
["SYNGAP1","Mental retardation","Mental retardation","Autosomal Dominant","Mental Retardation, Autosomal Dominant 5:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8831[geneid]~-~603384~-","SYNGAP1"]
["SYNGAP1","Mental retardation, non-syndromic","Mental retardation","Autosomal Dominant","Mental Retardation, Autosomal Dominant 5:Autosomal Dominant$Mental retardation:Autosomal Dominant","Mental retardation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8831[geneid]~-~603384~-","SYNGAP1"]
["SYNGR1","Bipolar disorder","Bipolar disorder","Risk",null,null,"HIGH","-~-~603925~-","SYNGR1"]
["SYNGR1","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~603925~-","SYNGR1"]
["SYNPO","Glomerulosclerosis, focal and segmental","Focal segmental glomerulosclerosis","Autosomal Dominant",null,null,"HIGH","-~-~608155~-","SYNPO"]
["SYP","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked dominant","Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6855[geneid]~-~313475~-","SYP"]
["SYP","Schizophrenia","Schizophrenia","Risk","Mental retardation:X-linked dominant","Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6855[geneid]~-~313475~-","SYP"]
["SYT14","Spinocerebellar ataxia with psychomotor retardation","Spinocerebellar Ataxia 11","Autosomal Recessive","Spinocerebellar Ataxia 11:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","HIGH","-~-~610949~-","SYT14"]
["T","Chordoma, increased risk","Chordoma","Risk","Neural tube defect:Risk","Neural tube defect:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6862[geneid]~-~601397~-","T"]
["T","Vertebral malformation","Neural tube defect","Risk","Neural tube defect:Risk","Neural tube defect:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6862[geneid]~-~601397~-","T"]
["TAAR2","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604849~-","TAAR2"]
["TAC3","GnRH deficiency","Gonadotropin releasing factor deficiency","Autosomal Dominant","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6866[geneid]~-~162330~-","TAC3"]
["TAC3","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6866[geneid]~-~162330~-","TAC3"]
["TACI","Antibody deficiency","Specific antibody deficiency;Immunoglobulin A deficiency 2","Autosomal Dominant","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency 2:Autosomal Dominant$Immunoglobulin A deficiency 2:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604907~-","TNFRSF13B"]
["TACI","Antibody deficiency","Specific antibody deficiency;Immunoglobulin A deficiency 2","Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency 2:Autosomal Dominant$Immunoglobulin A deficiency 2:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604907~-","TNFRSF13B"]
["TACI","Hypogammaglobulinaemia","Hypogammaglobulinemia","Autosomal Dominant","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency 2:Autosomal Dominant$Immunoglobulin A deficiency 2:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604907~-","TNFRSF13B"]
["TACI","Immunodeficiency, common variable","Immunodeficiency, common variable, 2","Autosomal Dominant","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency 2:Autosomal Dominant$Immunoglobulin A deficiency 2:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604907~-","TNFRSF13B"]
["TACI","Immunodeficiency, common variable","Immunodeficiency, common variable, 2","Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency 2:Autosomal Dominant$Immunoglobulin A deficiency 2:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604907~-","TNFRSF13B"]
["TACI","Intracranial aneurysm","Intracranial aneurysm","Risk","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency 2:Autosomal Dominant$Immunoglobulin A deficiency 2:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","Common Variable Immunodeficiency:Autosomal Dominant$Common Variable Immunodeficiency:Autosomal Recessive$Immunoglobulin A deficiency:Autosomal Dominant$Immunoglobulin A deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23495[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1299~604907~-","TNFRSF13B"]
["TACO1","Cytochrome c oxidase deficiency","Cytochrome-c oxidase deficiency;Leigh's disease","Autosomal Recessive","Leigh's disease:Autosomal Recessive","Leigh's disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51204[geneid]~-~612958~-","TACO1"]
["TACR3","Hypogonadotropic hypogonadism","Hypogonadotropic hypogonadism","Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Kallmann Syndrome:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","Hypogonadism with anosmia:Autosomal Recessive$Hypogonadotropic hypogonadism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6870[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1278~162332~-","TACR3"]
["TACSTD2","Corneal dystrophy, gelatinous drop-like","Lattice corneal dystrophy Type III","Autosomal Recessive","Lattice corneal dystrophy Type III:Autosomal Recessive","Lattice corneal dystrophy Type III:Autosomal Recessive","HIGH","-~-~137290~-","TACSTD2"]
["TAF15","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Risk","Extraskeletal Myxoid Chondrosarcoma:Autosomal Dominant","Extraskeletal Myxoid Chondrosarcoma:Autosomal Dominant","HIGH","-~-~601574~-","TAF15"]
["TAF2","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~604912~-","TAF2"]
["TALDO1","Transaldolase deficiency","Deficiency of transaldolase","Autosomal Recessive","Deficiency of transaldolase:Autosomal Recessive","Deficiency of transaldolase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6888[geneid]~-~602063~-","TALDO1"]
["TANC2","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~615047~-","TANC2"]
["TAP1","Bare lymphocyte syndrome","Bare Lymphocyte Syndrome, Type I","Autosomal Recessive","Bare Lymphocyte Syndrome, Type I:Autosomal Recessive$SCID due to absent class II HLA antigens:Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6890[geneid]~-~170260~-","TAP1"]
["TAP1","HLA class I deficiency","Bare Lymphocyte Syndrome, Type I","Autosomal Recessive","Bare Lymphocyte Syndrome, Type I:Autosomal Recessive$SCID due to absent class II HLA antigens:Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6890[geneid]~-~170260~-","TAP1"]
["TAP2","Bare lymphocyte syndrome, type I","Bare Lymphocyte Syndrome, Type I","Autosomal Recessive","Bare Lymphocyte Syndrome, Type I:Autosomal Recessive$SCID due to absent class II HLA antigens:Autosomal Recessive$Wegener-Like Granulomatosis:Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Recessive$Wegener-Like Granulomatosis:Autosomal Recessive","HIGH","-~-~170261~-","TAP2"]
["TAP2","HLA class I deficiency","Bare Lymphocyte Syndrome, Type I","Autosomal Recessive","Bare Lymphocyte Syndrome, Type I:Autosomal Recessive$SCID due to absent class II HLA antigens:Autosomal Recessive$Wegener-Like Granulomatosis:Autosomal Recessive","SCID due to absent class II HLA antigens:Autosomal Recessive$Wegener-Like Granulomatosis:Autosomal Recessive","HIGH","-~-~170261~-","TAP2"]
["TARDBP","Amyotrophic lateral sclerosis","Amyotrophic Lateral Sclerosis 10","Autosomal Dominant","Amyotrophic Lateral Sclerosis 10:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK5942~605078~-","TARDBP"]
["TARDBP","Amyotrophic lateral sclerosis, flail arm variant","Amyotrophic Lateral Sclerosis 10","Autosomal Dominant","Amyotrophic Lateral Sclerosis 10:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK5942~605078~-","TARDBP"]
["TARDBP","Disrupted nuclear localisation","Frontotemporal dementia;Amyotrophic Lateral Sclerosis 10","Autosomal Dominant","Amyotrophic Lateral Sclerosis 10:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK5942~605078~-","TARDBP"]
["TARDBP","Frontotemporal dementia","Frontotemporal dementia","Autosomal Dominant","Amyotrophic Lateral Sclerosis 10:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK5942~605078~-","TARDBP"]
["TARDBP","Frontotemporal dementia, supranuclear gaze palsy & chorea","Frontotemporal dementia;Supranuclear gaze palsy;Chorea","Autosomal Dominant","Amyotrophic Lateral Sclerosis 10:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK5942~605078~-","TARDBP"]
["TARDBP","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Autosomal Dominant","Amyotrophic Lateral Sclerosis 10:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK5942~605078~-","TARDBP"]
["TARDBP","Motor neuron disease","Motor neuron disease","Autosomal Dominant","Amyotrophic Lateral Sclerosis 10:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Frontotemporal dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23435[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450$http://www.ncbi.nlm.nih.gov/books/NBK5942~605078~-","TARDBP"]
["TAS1R1","Impaired receptor function","Taste Threshold","Modifier","Taste Threshold:Modifier","Taste Threshold:Modifier","HIGH","-~-~606225~-","TAS1R1"]
["TAS1R1","Increased sensitivity of umami taste receptor","Taste Threshold","Modifier","Taste Threshold:Modifier","Taste Threshold:Modifier","HIGH","-~-~606225~-","TAS1R1"]
["TAS1R3","Impaired receptor function","Taste Threshold","Modifier","Taste Threshold:Modifier","Taste Threshold:Modifier","HIGH","-~-~605865~-","TAS1R3"]
["TAS2R3","Autism","Autistic Disorder","Risk","Taste Threshold:Modifier","Taste Threshold:Modifier","HIGH","-~-~604868~-","TAS2R3"]
["TAT","Tyrosinaemia 2","Hypertyrosinemia, Richner-Hanhart type","Autosomal Recessive","Tyrosinemia:Autosomal Recessive$Hypertyrosinemia, Richner-Hanhart type:Autosomal Recessive","Tyrosinemia:Autosomal Recessive$Hypertyrosinemia, Richner-Hanhart type:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6898[geneid]~-~613018~-","TAT"]
["TAZ","Barth syndrome","3-Methylglutaconic aciduria type 2","X-linked Recessive","Barth syndrome:Autosomal Recessive$3-Methylglutaconic aciduria type 2:Autosomal Recessive","3-Methylglutaconic aciduria type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~300394~-","TAZ"]
["TAZ","Barth syndrome with dilated cardiomyopathy","3-Methylglutaconic aciduria type 2;Dilated cardiomyopathy","X-linked Recessive","Barth syndrome:Autosomal Recessive$3-Methylglutaconic aciduria type 2:Autosomal Recessive","3-Methylglutaconic aciduria type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~300394~-","TAZ"]
["TAZ","Barth syndrome, atypical","3-Methylglutaconic aciduria type 2","X-linked Recessive","Barth syndrome:Autosomal Recessive$3-Methylglutaconic aciduria type 2:Autosomal Recessive","3-Methylglutaconic aciduria type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~300394~-","TAZ"]
["TAZ","Cardiomyopathy, dilated","Dilated cardiomyopathy","X-linked Recessive","Barth syndrome:Autosomal Recessive$3-Methylglutaconic aciduria type 2:Autosomal Recessive","3-Methylglutaconic aciduria type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~300394~-","TAZ"]
["TAZ","Cardiomyopathy, X-linked infantile","Cardiomyopathy, Dilated, 3A","X-linked Recessive","Barth syndrome:Autosomal Recessive$3-Methylglutaconic aciduria type 2:Autosomal Recessive","3-Methylglutaconic aciduria type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~300394~-","TAZ"]
["TAZ","Left ventricular noncompaction","Left ventricular myocardial noncompaction cardiomyopathy","X-linked Recessive","Barth syndrome:Autosomal Recessive$3-Methylglutaconic aciduria type 2:Autosomal Recessive","3-Methylglutaconic aciduria type 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6901[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~300394~-","TAZ"]
["TBC1D23","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55773[geneid]~-~-~-","TBC1D23"]
["TBC1D24","Focal epilepsy, dysarthria & intellectual disability","Partial seizure;Dysarthria;Intellectual Disability","Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Epilepsy, Myoclonic, Infantile:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Epilepsy, Myoclonic, Infantile:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57465[geneid]~-~613577~-","TBC1D24"]
["TBC1D24","Malignant migrating partial seizures in infancy","Migrating partial seizures in infancy","Autosomal Dominant","Early myoclonic encephalopathy:Autosomal Recessive$Epilepsy, Myoclonic, Infantile:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Epilepsy, Myoclonic, Infantile:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57465[geneid]~-~613577~-","TBC1D24"]
["TBC1D24","Myoclonic epilepsy, infantile","Epilepsy, Myoclonic, Infantile","Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Epilepsy, Myoclonic, Infantile:Autosomal Recessive","Early myoclonic encephalopathy:Autosomal Recessive$Epilepsy, Myoclonic, Infantile:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57465[geneid]~-~613577~-","TBC1D24"]
["TBC1D30","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~615077~-","TBC1D30"]
["TBC1D4","Insulin resistance","Hyperinsulinism","Autosomal Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9882[geneid]~-~612465~-","TBC1D4"]
["TBCE","Hypoparathyroidism-retardation-dysmorphic syndrome","Hypoparathyroidism-retardation-dysmorphism syndrome","Autosomal Recessive","Hypoparathyroidism-retardation-dysmorphism syndrome:Autosomal Recessive$Kenny-Caffey syndrome, Type 1:Autosomal Recessive$Kenny syndrome:Autosomal Recessive","Hypoparathyroidism-retardation-dysmorphism syndrome:Autosomal Recessive$Kenny syndrome:Autosomal Recessive","HIGH","-~-~604934~-","TBCE"]
["TBCE","Kenny syndrome","Kenny syndrome","Autosomal Recessive","Hypoparathyroidism-retardation-dysmorphism syndrome:Autosomal Recessive$Kenny-Caffey syndrome, Type 1:Autosomal Recessive$Kenny syndrome:Autosomal Recessive","Hypoparathyroidism-retardation-dysmorphism syndrome:Autosomal Recessive$Kenny syndrome:Autosomal Recessive","HIGH","-~-~604934~-","TBCE"]
["TBK1","Herpes simplex virus encephalitis, childhood","Encephalitis due to human herpes simplex virus","Autosomal Dominant",null,null,"HIGH","-~-~604834~-","TBK1"]
["TBL1XR1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608628~-","TBL1XR1"]
["TBL1Y","Coarctation of the aorta, non-syndromic","Coarctation of aorta","Autosomal Dominant",null,null,"HIGH","-~-~400033~-","TBL1Y"]
["TBR1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604616~-","TBR1"]
["TBX1","22q11.2 deletion syndrome features","Conotruncal Anomaly Face Syndrome","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","Cardiovascular defects","Disorder of cardiovascular system","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","Conotruncal anomaly face syndrome","Conotruncal Anomaly Face Syndrome","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","DiGeorge syndrome","DiGeorge sequence","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","DiGeorge syndrome/Velocardiofacial syndrome","DiGeorge sequence;Shprintzen syndrome","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","Midline facial defects with hypertelorism","Midline facial defect;Hypertelorism","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","Velocardiofacial syndrome","Shprintzen syndrome","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX1","Ventricular septal defect","Ventricular septal defect","Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Velocardiofacial syndrome:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","Conotruncal Anomaly Face Syndrome:Autosomal Recessive$DiGeorge syndrome:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant$Shprintzen syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6899[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1523~602054~-","TBX1"]
["TBX10","Cleft lip","Cleft lip","Risk",null,null,"HIGH","-~-~604648~-","TBX10"]
["TBX15","Cousin syndrome","Pelviscapular dysplasia","Autosomal Recessive","Cousin syndrome:Autosomal Recessive$Pelviscapular dysplasia:Autosomal Recessive","Pelviscapular dysplasia:Autosomal Recessive","HIGH","-~-~604127~-","TBX15"]
["TBX18","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604613~-","TBX18"]
["TBX19","ACTH deficiency, isolated","ACTH deficiency","Autosomal Recessive","Adrenocorticotropic hormone deficiency:Autosomal Recessive$ACTH deficiency:Autosomal Recessive","Adrenocorticotropic hormone deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9095[geneid]~-~604614~-","TBX19"]
["TBX2","Ventricular septal defect","Ventricular septal defect","Risk",null,null,"HIGH","-~-~600747~-","TBX2"]
["TBX20","Atrial septal defects, patent foramen ovale & cardiac valve defec","Atrial Septal Defect 4;Atrial septal defect","Autosomal Dominant","Atrial Septal Defect 4:Autosomal Dominant$Atrial septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57057[geneid]~-~606061~-","TBX20"]
["TBX20","Congenital heart disease","Congenital heart disease","Autosomal Dominant","Atrial Septal Defect 4:Autosomal Dominant$Atrial septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57057[geneid]~-~606061~-","TBX20"]
["TBX20","Ventricular septal defect","Ventricular septal defect","Autosomal Dominant","Atrial Septal Defect 4:Autosomal Dominant$Atrial septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57057[geneid]~-~606061~-","TBX20"]
["TBX22","Abruzzo Erickson syndrome","Abruzzo Erickson syndrome","X-linked Dominant","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","HIGH","-~-~300307~-","TBX22"]
["TBX22","Abruzzo-Erickson syndrome","Abruzzo Erickson syndrome","X-linked Dominant","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","HIGH","-~-~300307~-","TBX22"]
["TBX22","Cleft lip and palate","Cleft palate with cleft lip","X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","HIGH","-~-~300307~-","TBX22"]
["TBX22","Cleft palate","Cleft palate","X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","HIGH","-~-~300307~-","TBX22"]
["TBX22","Cleft palate and ankyloglossia","Cleft Palate with Ankyloglossia","X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","HIGH","-~-~300307~-","TBX22"]
["TBX22","Cleft palate, non-syndromic","Cleft palate","X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","Abruzzo Erickson syndrome:X-linked dominant$Cleft Palate with Ankyloglossia:X-linked Recessive","HIGH","-~-~300307~-","TBX22"]
["TBX3","Ulnar-mammary syndrome","Ulnar-mammary syndrome","Autosomal Dominant","Ulnar-mammary syndrome:Autosomal Dominant","Ulnar-mammary syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6926[geneid]~-~601621~-","TBX3"]
["TBX4","Small patella syndrome","Ischiopatellar dysplasia","Autosomal Dominant","Small patella syndrome:Autosomal Dominant$Ischiopatellar dysplasia:Autosomal Dominant","Ischiopatellar dysplasia:Autosomal Dominant","HIGH","-~-~601719~-","TBX4"]
["TBX5","Atrial septal defects & postaxial hexodactyly","Atrial septal defect","Autosomal Dominant","Holt-Oram syndrome:Autosomal Dominant","Holt-Oram syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1111~601620~-","TBX5"]
["TBX5","Congenital heart disease","Congenital heart disease","Autosomal Dominant","Holt-Oram syndrome:Autosomal Dominant","Holt-Oram syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1111~601620~-","TBX5"]
["TBX5","Holt-Oram syndrome","Holt-Oram syndrome","Autosomal Dominant","Holt-Oram syndrome:Autosomal Dominant","Holt-Oram syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6910[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1111~601620~-","TBX5"]
["TBX6","Spondylocostal dysostosis","Spondylocostal dysostosis","Autosomal Dominant","Spondylocostal Dysostosis 4, Autosomal Dominant:Autosomal Dominant",null,"HIGH","-~-~602427~-","TBX6"]
["TBXA2R","Bleeding diathesis","Blood coagulation disorder","Autosomal Dominant","Blood coagulation disorder:Risk","Blood coagulation disorder:Risk","HIGH","-~-~188070~-","TBXA2R"]
["TBXA2R","Reduced receptor expression","NULL","No disease association PMID 22272267","NULL","NULL","HIGH","-~-~188070~-","TBXA2R"]
["TBXA2R","Thromboxane A2 receptor deficiency","Blood coagulation disorder","Autosomal Dominant","Blood coagulation disorder:Risk","Blood coagulation disorder:Risk","HIGH","-~-~188070~-","TBXA2R"]
["TBXAS1","Ghosal hematodiaphyseal dysplasia","Ghosal Hematodiaphyseal Dysplasia","Autosomal Dominant","Ghosal Hematodiaphyseal Dysplasia:Autosomal Recessive","Ghosal Hematodiaphyseal Dysplasia:Autosomal Recessive","HIGH","-~-~274180~-","TBXAS1"]
["TCAP","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1N;Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1N:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2G:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8557[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~604488~-","TCAP"]
["TCAP","Intestinal pseudo-obstruction","Chronic intestinal pseudo-obstruction","Risk","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1N:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2G:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8557[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~604488~-","TCAP"]
["TCAP","Muscular dystrophy, limb girdle 2G","Muscular Dystrophy, Limb-Girdle, Type 2G","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1N:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2G:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8557[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~604488~-","TCAP"]
["TCAP","Telethonin deficiency","Muscular Dystrophy, Limb-Girdle, Type 2G;Limb-girdle muscular dystrophy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1N:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Muscular Dystrophy, Limb-Girdle, Type 2G:Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8557[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~604488~-","TCAP"]
["TCF12","Coronal craniosynostosis","Craniosynostosis","Autosomal Dominant","Craniosynostosis:Autosomal Dominant","Craniosynostosis:Autosomal Dominant","HIGH","-~-~600480~-","TCF12"]
["TCF21","Cardiomyopathy, dilated","Dilated cardiomyopathy","Risk",null,null,"HIGH","-~-~603306~-","TCF21"]
["TCF21","Sensorineural hearing loss","NULL","No PMID listed in HGMD","NULL","NULL","HIGH","-~-~603306~-","TCF21"]
["TCF3","Autism","Autistic Disorder","Risk","Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma:Risk","Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma:Risk","HIGH","-~-~147141~-","TCF3"]
["TCF3","Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma","Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma","Risk","Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma:Risk","Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma:Risk","HIGH","-~-~147141~-","TCF3"]
["TCF4","Angelman syndrome","Angelman syndrome","Autosomal Dominant","Pitt-Hopkins syndrome:Autosomal Dominant","Pitt-Hopkins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6925[geneid]~-~602228~-","TCF7L2"]
["TCF4","Intellectual disability, nonsyndromic","Intellectual Disability","Risk","Pitt-Hopkins syndrome:Autosomal Dominant","Pitt-Hopkins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6925[geneid]~-~602228~-","TCF7L2"]
["TCF4","Pitt-Hopkins syndrome","Pitt-Hopkins syndrome","Autosomal Dominant","Pitt-Hopkins syndrome:Autosomal Dominant","Pitt-Hopkins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6925[geneid]~-~602228~-","TCF7L2"]
["TCF4","Rett syndrome, variant / Pitt-Hopkins syndrome","Pitt-Hopkins syndrome","Autosomal Dominant","Pitt-Hopkins syndrome:Autosomal Dominant","Pitt-Hopkins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6925[geneid]~-~602228~-","TCF7L2"]
["TCF7L1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604652~-","TCF7L1"]
["TCIRG1","Osteopetrosis, Autosomal Dominant, Type 2","Osteopetrosis Autosomal Dominant Type 2","Autosomal Dominant","Osteopetrosis, Autosomal Recessive 1:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","Osteopetrosis, Autosomal Recessive 1:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10312[geneid]~-~604592~-","TCIRG1"]
["TCIRG1","Osteopetrosis, Autosomal Recessive","Osteopetrosis","Autosomal Recessive","Osteopetrosis, Autosomal Recessive 1:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","Osteopetrosis, Autosomal Recessive 1:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10312[geneid]~-~604592~-","TCIRG1"]
["TCIRG1","Osteopetrosis, infantile malignant","Infantile malignant osteopetrosis","Autosomal Recessive","Osteopetrosis, Autosomal Recessive 1:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","Osteopetrosis, Autosomal Recessive 1:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10312[geneid]~-~604592~-","TCIRG1"]
["TCN1","Transcobalamin I deficiency","Transcobalamin I deficiency","Autosomal Recessive","Transcobalamin I deficiency:Autosomal Recessive","Transcobalamin I deficiency:Autosomal Recessive","HIGH","-~-~189905~-","TCN1"]
["TCN1","Transcobalamin I deficiency, mild","Transcobalamin I deficiency","Autosomal Dominant","Transcobalamin I deficiency:Autosomal Recessive","Transcobalamin I deficiency:Autosomal Recessive","HIGH","-~-~189905~-","TCN1"]
["TCN2","Increased total-TC concentrations","NULL","No significant association with disease PMID 12107818","NULL","NULL","HIGH","-~-~613441~-","TCN2"]
["TCN2","Lower total-TC concentrations","NULL","No significant association with disease PMID 12107818","NULL","NULL","HIGH","-~-~613441~-","TCN2"]
["TCN2","Transcobalamin II deficiency","Transcobalamin II deficiency","Autosomal Recessive","Transcobalamin II deficiency:Autosomal Recessive","Transcobalamin II deficiency:Autosomal Recessive","HIGH","-~-~613441~-","TCN2"]
["TCOF1","Altered gene expression","Treacher Collins syndrome","Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6949[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1532~606847~-","TCOF1"]
["TCOF1","Hemifacial microsomia","Hemifacial microsomia","Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6949[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1532~606847~-","TCOF1"]
["TCOF1","Treacher-Collins syndrome","Treacher Collins syndrome","Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","Treacher Collins syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6949[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1532~606847~-","TCOF1"]
["TCTN1","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79600[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609863~-","TCTN1"]
["TCTN2","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79867[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~613846~-","TCTN2"]
["TCTN2","Meckel Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive","Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79867[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~613846~-","TCTN2"]
["TCTN3","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Orofacial-digital syndrome IV:Autosomal Recessive$Oral-facial-digital syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Oral-facial-digital syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1325~613847~-","TCTN3"]
["TCTN3","Mohr-Majewski syndrome","Orofacial-digital syndrome IV","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Orofacial-digital syndrome IV:Autosomal Recessive$Oral-facial-digital syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Oral-facial-digital syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1325~613847~-","TCTN3"]
["TDGF1","Congenital heart defects","Congenital heart disease;Ventricular septal defect","Autosomal Dominant","Forebrain Defects:Autosomal Dominant","Forebrain Defects:Autosomal Dominant","HIGH","-~-~187395~-","TDGF1"]
["TDGF1","Forebrain defects","Forebrain Defects","Autosomal Dominant","Forebrain Defects:Autosomal Dominant","Forebrain Defects:Autosomal Dominant","HIGH","-~-~187395~-","TDGF1"]
["TDP1","Spinocerebellar ataxia with axonal neuropathy","Spinocerebellar ataxia","Autosomal Recessive","Spinocerebellar ataxia, Autosomal Recessive, with axonal neuropathy:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55775[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1105~607198~-","TDP1"]
["TDRD7","Cataract","Cataract","Autosomal Recessive","Cataract:Autosomal Recessive","Cataract:Autosomal Recessive","HIGH","-~-~611258~-","TDRD7"]
["TEAD1","Sveinsson chorioretinal atrophy","Sveinsson Chorioretinal Atrophy","Autosomal Dominant","Sveinsson Chorioretinal Atrophy:Autosomal Dominant","Sveinsson Chorioretinal Atrophy:Autosomal Dominant","HIGH","-~-~189967~-","TEAD1"]
["TECPR2","Spastic paraparesis","Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~615000~-","TECPR2"]
["TECR","Mental retardation, non-syndromic, Autosomal Recessive","Mental retardation","Autosomal Recessive","Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","-~-~610057~-","TECR"]
["TECTA","Autism","Autistic Disorder","Risk","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Deafness","Deafness","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Deafness, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Deafness, Autosomal Dominant 12","Deafness","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Deafness, Autosomal Dominant 8","Deafness","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Deafness, Autosomal Recessive 21","Deafness","Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Deafness, non-syndromic","Deafness","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Hearing impairment","Hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Hearing loss","Hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TECTA","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness:Autosomal Dominant$Deafness, Autosomal Recessive 21:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7007[geneid]~-~602574~-","TECTA"]
["TEK","Cutaneomucosal venous malformation","Venous Malformations, Multiple Cutaneous and Mucosal","Autosomal Dominant","Venous Malformations, Multiple Cutaneous and Mucosal:Autosomal Dominant","Venous Malformations, Multiple Cutaneous and Mucosal:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1967~600221~-","TEK"]
["TEK","Venous malformation","Venous malformation","Autosomal Dominant","Venous Malformations, Multiple Cutaneous and Mucosal:Autosomal Dominant","Venous Malformations, Multiple Cutaneous and Mucosal:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7010[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1967~600221~-","TEK"]
["TEKT2","Asthenozoospermia, non-syndromic","Asthenozoospermia","Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant$Spermatogenic Failure 7:Autosomal Dominant","Primary spermatogenic failure:Autosomal Dominant","HIGH","-~-~608953~-","TEKT2"]
["TENM3","Microphthalmia","Microphthalmos","Autosomal Recessive","Microphthalmia, isolated, with coloboma 9:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","-~-~610083~-","TENM3"]
["TERC","Aplastic anaemia","Aplastic anemia","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Aplastic anaemia / myelodysplastic syndrome","Aplastic anemia;Myelodysplastic syndrome","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Cirrhosis","Cirrhosis of liver","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Dyskeratosis congenita, Autosomal Dominant","Dyskeratosis congenita","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Myelodysplastic syndrome","Myelodysplastic syndrome","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Paroxysmal nocturnal haemoglobinuria","Paroxysmal nocturnal hemoglobinuria","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Pulmonary fibrosis","Fibrosis of lung","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Pulmonary fibrosis, idiopathic","Fibrosis of lung","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERC","Telomere disease","Aplastic anemia","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7012[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~602322~-","TERC"]
["TERT","Acute myeloid leukaemia","Acute myeloid leukemia, disease","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Aplastic anaemia","Aplastic anemia","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Aplastic anaemia & pulmonary fibrosis","Aplastic anemia;Fibrosis of lung","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Aplastic anaemia / myelodysplastic syndrome","Aplastic anemia;Myelodysplastic syndrome","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Breast and ovarian cancer, increased risk","Malignant tumor of breast;Malignant neoplasm of ovary","Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Breast cancer, increased risk","Malignant tumor of breast","Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Breast cancer, reduced risk","Malignant tumor of breast","Decreased Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Breast cancer, reduced risk in BRCA1 carriers","Malignant tumor of breast","Decreased Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Cirrhosis","Cirrhosis of liver","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Recessive","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Hoyeraal-Hreidarsson syndrome","Hoyeraal Hreidarsson syndrome","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Lynch syndrome, modifier of","Lynch syndrome","Modifier","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Malignant melanoma of skin","Malignant melanoma of skin","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Melanoma","Malignant melanoma of skin","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Myelodysplastic/acute leukaemia predisposition syndrome","Acute leukemia;Myelodysplastic syndrome","Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Pancytopenia","Pancytopenia","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Pulmonary fibrosis, adult-onset","Fibrosis of lung","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TERT","Pulmonary fibrosis, idiopathic","Fibrosis of lung","Autosomal Dominant","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","Pancytopenia:Autosomal Dominant$Acute myeloid leukemia, disease:Autosomal Dominant$Fibrosis of lung:Autosomal Dominant$Dyskeratosis congenita:Autosomal Dominant$Dyskeratosis congenita:Autosomal Recessive$Malignant melanoma of skin:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7015[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301$http://www.ncbi.nlm.nih.gov/books/NBK1230~187270~-","TERT"]
["TET1","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607790~-","TET1"]
["TET2","Myelodysplastic/myeloproliferative disease","Myelodysplastic syndrome","Autosomal Dominant","Myelodysplastic syndrome:Autosomal Dominant","Myelodysplastic syndrome:Autosomal Dominant","HIGH","-~-~612839~-","TET2"]
["TEX13B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300313~-","TEX13B"]
["TF","Atransferrinaemia","Congenital atransferinemia","Autosomal Recessive","Congenital atransferinemia:Autosomal Recessive","Congenital atransferinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7018[geneid]~-~190000~-","TF"]
["TF","Congenital disorder of glycosylation 1","Congenital disorder of glycosylation type Ia","Autosomal Dominant","Congenital atransferinemia:Autosomal Recessive","Congenital atransferinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7018[geneid]~-~190000~-","TF"]
["TF","Hypotransferrinemia","Congenital atransferrinemia","Autosomal Recessive","Congenital atransferinemia:Autosomal Recessive","Congenital atransferinemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7018[geneid]~-~190000~-","TF"]
["TFAP2A","Branchio-oculo-facial syndrome","Branchiooculofacial syndrome","Autosomal Dominant","Branchiooculofacial syndrome:Autosomal Dominant","Branchiooculofacial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK55063~107580~-","TFAP2A"]
["TFAP2A","Cisplatin resistance","Drug Response","Pharmacogenetic","Branchiooculofacial syndrome:Autosomal Dominant","Branchiooculofacial syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7020[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK55063~107580~-","TFAP2A"]
["TFAP2B","Cardiac defects","Congenital heart disease","Autosomal Dominant","Char syndrome:Autosomal Dominant","Char syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1106~601601~-","TFAP2B"]
["TFAP2B","Char syndrome","Char syndrome","Autosomal Dominant","Char syndrome:Autosomal Dominant","Char syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1106~601601~-","TFAP2B"]
["TFAP2B","Endocardial cushion defect","Endocardial cushion defect","Autosomal Dominant","Char syndrome:Autosomal Dominant","Char syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1106~601601~-","TFAP2B"]
["TFAP2B","Patent ductus arteriosus","Patent ductus arteriosus","Autosomal Dominant","Char syndrome:Autosomal Dominant","Char syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1106~601601~-","TFAP2B"]
["TFG","Hereditary motor & sensory neuropathy with proximal dominant involvement","Hereditary motor and sensory neuropathy","Autosomal Dominant","Extraskeletal Myxoid Chondrosarcoma:Autosomal Dominant$Neuropathy, hereditary motor and sensory, Okinawa type:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","Extraskeletal Myxoid Chondrosarcoma:Autosomal Dominant$Hereditary motor and sensory neuropathy:Autosomal Dominant","HIGH","-~-~602498~-","TFG"]
["TFPI","Lower plasma TFPI","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~152310~-","TFPI"]
["TFR2","Altered iron status","Hemochromatosis","Autosomal Recessive","Hemochromatosis, type 3:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1349~604720~-","TFR2"]
["TFR2","Haemochromatosis","Hemochromatosis","Autosomal Recessive","Hemochromatosis, type 3:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1349~604720~-","TFR2"]
["TFR2","Metabolic syndrome","Metabolic syndrome","Autosomal Recessive","Hemochromatosis, type 3:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1349~604720~-","TFR2"]
["TFR2","Phenotype modifier","Hemochromatosis","Autosomal Recessive","Hemochromatosis, type 3:Autosomal Recessive$Hemochromatosis:Autosomal Recessive","Hemochromatosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7036[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1349~604720~-","TFR2"]
["TG","Goitre with hypothyroidism","Congenital hypothyroidism with diffuse goiter","Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7038[geneid]~-~188450~-","TG"]
["TG","Goitre, adenomatous","Adenomatous goiter","Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7038[geneid]~-~188450~-","TG"]
["TG","Goitre, congenital","Congenital iodine deficiency syndrome","Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7038[geneid]~-~188450~-","TG"]
["TG","Goitre, dyshormonogenetic","Familial dyshormonogenetic goiter","Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7038[geneid]~-~188450~-","TG"]
["TG","Goitre, simple","Simple goiter","Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7038[geneid]~-~188450~-","TG"]
["TG","Hypothyroidism","Hypothyroidism","Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7038[geneid]~-~188450~-","TG"]
["TG","Thyroid dyshormonogenesis","Iodotyrosyl coupling defect","Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","Thyroid Dyshormonogenesis 3:Autosomal Recessive$Iodotyrosyl coupling defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7038[geneid]~-~188450~-","TG"]
["TGFB1","Altered DNA-protein complex formation","NULL","No disease association PMID 19536820","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1156~190180~-","TGFB1"]
["TGFB1","Camurati-Engelmann disease","Diaphyseal dysplasia","Autosomal Dominant","Camurati-Engelmann disease:Autosomal Dominant$Diaphyseal dysplasia:Autosomal Dominant","Diaphyseal dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1156~190180~-","TGFB1"]
["TGFB1","Higher plasma TGF-beta concentration","Atherosclerosis","Risk","Camurati-Engelmann disease:Autosomal Dominant$Diaphyseal dysplasia:Autosomal Dominant","Diaphyseal dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1156~190180~-","TGFB1"]
["TGFB1","Otosclerosis","Otosclerosis","Risk","Camurati-Engelmann disease:Autosomal Dominant$Diaphyseal dysplasia:Autosomal Dominant","Diaphyseal dysplasia:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1156~190180~-","TGFB1"]
["TGFB2","Thoracic aortic aneurysms & dissections","Loeys-Dietz syndrome;Aneurysm of thoracic aorta;Dissection of thoracic aorta","Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1133~190220~-","TGFB2"]
["TGFB2","Thoracic aortic aneurysms and dissections","Aneurysm of thoracic aorta;Dissection of thoracic aorta","Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","Loeys-Dietz syndrome:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1133~190220~-","TGFB2"]
["TGFB3","Arrhythmogenic right ventricular dysplasia","Arrhythmogenic Right Ventricular Dysplasia, Familial, 1","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~190230~-","TGFB3"]
["TGFB3","Low muscle mass, hypotonia, growth retardation, arthrogryposis & bifid uvula","Hypotonia;Growth retardation;Arthrogryposis;Cleft uvula","Autosomal Dominant","Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:Autosomal Dominant$Arrhythmogenic right ventricular dysplasia:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7043[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~190230~-","TGFB3"]
["TGFBI","Corneal dystrophy","Corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, Avellino","Avellino corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, combined granular-lattice type, variant of","Avellino corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, epithelial basement membrane","Corneal epithelial and basement membrane dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, granular","Granular corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, granular type I","Groenouw corneal dystrophy type I","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, lattice intermediate type I/IIIA","Lattice corneal dystrophy Type I","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, lattice intermediate type I/IIIA","Lattice corneal dystrophy Type III","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, lattice type","Lattice corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, lattice type I","Lattice corneal dystrophy Type I","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, lattice type IIIA","Lattice corneal dystrophy Type III","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, lattice type, with deep deposits","Lattice corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, map-like","Microscopic cystic corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, Reis-Buckler","Reis-Bucklers' corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Corneal dystrophy, Thiel-Behnke","Thiel-Behnke corneal dystrophy","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBI","Keratoconus","Keratoconus","Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy Type I:Autosomal Dominant$Lattice corneal dystrophy Type III:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","Corneal dystrophy:Autosomal Dominant$Avellino corneal dystrophy:Autosomal Dominant$Groenouw corneal dystrophy type I:Autosomal Dominant$Reis-Bucklers' corneal dystrophy:Autosomal Dominant$Thiel-Behnke corneal dystrophy:Autosomal Dominant$Corneal epithelial and basement membrane dystrophy:Autosomal Dominant$Lattice corneal dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7045[geneid]~-~601692~-","TGFBI"]
["TGFBR1","Aortic aneurysm, thoracic","Loeys Dietz Aortic Aneurysm Syndrome","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Furlong syndrome","Furlong syndrome","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Loeys-Dietz aortic aneurysm syndrome","Loeys Dietz Aortic Aneurysm Syndrome","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Loeys-Dietz syndrome","Loeys-Dietz syndrome","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Loeys-Dietz syndrome, type I","Loeys Dietz Aortic Aneurysm Syndrome","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Loeys-Dietz syndrome, type II","Loeys-Dietz Syndrome, Type 2A","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Marfan syndrome II","Aortic aneurysm, familial thoracic 3","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Multiple self-healing squamous epithelioma","Keratoacanthoma familial","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR1","Shprintzen-Goldberg syndrome","Shprintzen syndrome","Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Loeys Dietz Aortic Aneurysm Syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7046[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190181~-","TGFBR1"]
["TGFBR2","Aortic aneurysm","Aortic aneurysm","Risk","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Aortic aneurysm, thoracic","Loeys-Dietz aortic aneurysm syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Cervical artery dissection, spontaneous","Cervicocerebral arterial dissection","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Colorectal cancer, non-polyposis","Hereditary non-polyposis colorectal cancer syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Giant cell carcinoma","Giant cell carcinoma","Autosomal Recessive","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Loeys-Dietz aortic aneurysm syndrome","Loeys-Dietz aortic aneurysm syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Loeys-Dietz syndrome","Loeys-Dietz Syndrome, Type 1B","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Loeys-Dietz syndrome, type II","Aortic aneurysm, familial thoracic 3","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Marfan syndrome II","Aortic aneurysm, familial thoracic 3","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Marfan syndrome, incomplete","Marfan's syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Marfan-like syndrome","Marfan's syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR2","Shprintzen-Goldberg syndrome","Shprintzen syndrome","Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Colorectal Cancer, Hereditary Nonpolyposis, Type 6:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz Syndrome, Type 1b:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Aortic aneurysm, familial thoracic 3:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","Hereditary nonpolyposis colon cancer:Autosomal Dominant$Malignant tumor of esophagus:Autosomal Dominant$Loeys-Dietz aortic aneurysm syndrome:Autosomal Dominant$Loeys-Dietz syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7048[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1120$http://www.ncbi.nlm.nih.gov/books/NBK1133~190182~-","TGFBR2"]
["TGFBR3","Intracranial aneurysm","Intracranial aneurysm","Risk",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7049[geneid]~-~600742~-","TGFBR3"]
["TGFBR3","Premature ovarian failure","Premature ovarian failure","Autosomal Dominant",null,null,"HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7049[geneid]~-~600742~-","TGFBR3"]
["TGIF1","Holoprosencephaly","Holoprosencephaly 4","Autosomal Dominant","Holoprosencephaly 4:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7050[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~602630~-","TGIF1"]
["TGIF1","Holoprosencephaly and moyamoya disease","Holoprosencephaly 4;Moyamoya disease","Autosomal Dominant","Holoprosencephaly 4:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7050[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~602630~-","TGIF1"]
["TGIF1","Pituitary stalk interruption syndrome","Anterior pituitary hyperplasia","Autosomal Dominant","Holoprosencephaly 4:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7050[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~602630~-","TGIF1"]
["TGM1","Collodion, self-healing","Self-Healing Collodion Baby","Autosomal Recessive","Ichthyosis Congenita II:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~190195~-","TGM1"]
["TGM1","Ichthyosiform erythroderma, congenital, nonbullous","Congenital non bullous ichthyosiform erythroderma","Autosomal Recessive","Ichthyosis Congenita II:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~190195~-","TGM1"]
["TGM1","Ichthyosis, bathing suit","Congenital ichthyosis of skin","Autosomal Recessive","Ichthyosis Congenita II:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~190195~-","TGM1"]
["TGM1","Ichthyosis, congenital, Autosomal Recessive","Congenital ichthyosis of skin","Autosomal Recessive","Ichthyosis Congenita II:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~190195~-","TGM1"]
["TGM1","Ichthyosis, lamellar","Lamellar ichthyosis","Autosomal Recessive","Ichthyosis Congenita II:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~190195~-","TGM1"]
["TGM1","Transglutaminase 1 deficiency","Congenital ichthyosis of skin","Autosomal Recessive","Ichthyosis Congenita II:Autosomal Recessive$Ichthyosis:Autosomal Recessive","Ichthyosis:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~190195~-","TGM1"]
["TGM2","Diabetes, type 2, early-onset","Diabetes, early onset","Autosomal Dominant",null,null,"HIGH","-~-~190196~-","TGM2"]
["TGM4","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600585~-","TGM4"]
["TGM5","Acral peeling skin syndrome","Peeling skin syndrome, acral type","Autosomal Recessive","Peeling skin syndrome, acral type:Autosomal Recessive$Peeling skin syndrome:Autosomal Recessive","Peeling skin syndrome:Autosomal Recessive","HIGH","-~-~603805~-","TGM5"]
["TGM6","Spinocerebellar ataxia","Spinocerebellar ataxia","Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","-~-~613900~-","TGM6"]
["TH","Dystonia, dopa-responsive","Dystonia, Dopa-responsive","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["TH","Dystonia, L-DOPA-responsive","Dystonia, Dopa-responsive","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["TH","Extrapyramidal movement disorder","Extrapyramidal and movement disorders","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["TH","Hypokinetic-hypotonic syndrome, infantile","Muscle hypotonia","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["TH","Parkinsonism, L-DOPA-responsive","Dystonia, Dopa-responsive","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["TH","Parkinsonism, L-DOPA-responsive","Parkinsonism, infantile","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["TH","Segawa syndrome","Dystonia, Dopa-responsive","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["TH","Tyrosine hydroxylase deficiency","Tyrosine Hydroxylase Deficiency;Dystonia, Dopa-responsive","Autosomal Recessive","Segawa syndrome, Autosomal Recessive:Autosomal Recessive$Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","Dystonia, Dopa-responsive:Autosomal Recessive$Dystonia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7054[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1437~191290~-","TH"]
["THAP1","Blepharospasm, benign essential","Blepharospasm","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Dystonia","Dystonia 6, torsion","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Dystonia 6","Dystonia 6, torsion","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Dystonia 6, torsion","Dystonia 6, torsion","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Dystonia, cervical","Isolated cervical dystonia","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Dystonia, early-onset","Dystonia","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Dystonia, generalised","Generalized dystonia","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Dystonia, primary torsion","Dystonia 6, torsion","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THAP1","Spasmodic dysphonia","Spastic dysphonia","Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","Dystonia 6, torsion:Autosomal Dominant$Dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55145[geneid]~-~609520~-","THAP1"]
["THBD","Deep vein thrombosis","Deep venous thrombosis","Autosomal Dominant","Thrombophilia due to Thrombomodulin Defect:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7056[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~188040~-","THBD"]
["THBD","Haemolytic uraemic syndrome, atypical","Atypical hemolytic uremic syndrome","Autosomal Dominant","Thrombophilia due to Thrombomodulin Defect:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7056[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~188040~-","THBD"]
["THBD","Late foetal loss","Fetal death","Risk","Thrombophilia due to Thrombomodulin Defect:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7056[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~188040~-","THBD"]
["THBD","Myocardial infarction","Myocardial infarction","Risk","Thrombophilia due to Thrombomodulin Defect:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7056[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~188040~-","THBD"]
["THBD","Thromboembolic disease","Thrombophilia due to Thrombomodulin Defect","Autosomal Dominant","Thrombophilia due to Thrombomodulin Defect:Autosomal Dominant$Thrombophilia:Autosomal Dominant","Thrombophilia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7056[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1367~188040~-","THBD"]
["THBS1","Pulmonary hypertension","Primary pulmonary hypertension","Modifier",null,null,"HIGH","-~-~188060~-","THBS1"]
["THOC6","Intellectual disability","Intellectual Disability","Autosomal Recessive","Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations:Autosomal Recessive","Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations:Autosomal Recessive",null,"-~-~615403~-","THOC6"]
["THPO","Thrombocythaemia","Thrombocytosis","Autosomal Dominant","Thrombocytosis:Autosomal Dominant","Thrombocytosis:Autosomal Dominant","HIGH","-~-~600044~-","THPO"]
["THPO","Thrombocythaemia, essential","Essential thrombocythemia","Autosomal Dominant","Thrombocytosis:Autosomal Dominant","Thrombocytosis:Autosomal Dominant","HIGH","-~-~600044~-","THPO"]
["THRA","Hypothyroidism","Congenital hypothyroidism without goiter","Autosomal Dominant","Congenital hypothyroidism without goiter:Autosomal Dominant","Congenital hypothyroidism without goiter:Autosomal Dominant","HIGH","-~-~190120~-","THRA"]
["THRB","Thyroid hormone resistance","Generalized thyroid hormone resistance","Autosomal Dominant","Generalized thyroid hormone resistance:Autosomal Dominant$Generalized thyroid hormone resistance:Autosomal Recessive$Thyroid Hormone Resistance, Selective Pituitary:Autosomal Dominant","Generalized thyroid hormone resistance:Autosomal Dominant$Generalized thyroid hormone resistance:Autosomal Recessive$Thyroid Hormone Resistance, Selective Pituitary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7068[geneid]~-~190160~-","THRB"]
["THRB","Thyroid hormone resistance","Generalized thyroid hormone resistance","Autosomal Recessive","Generalized thyroid hormone resistance:Autosomal Dominant$Generalized thyroid hormone resistance:Autosomal Recessive$Thyroid Hormone Resistance, Selective Pituitary:Autosomal Dominant","Generalized thyroid hormone resistance:Autosomal Dominant$Generalized thyroid hormone resistance:Autosomal Recessive$Thyroid Hormone Resistance, Selective Pituitary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7068[geneid]~-~190160~-","THRB"]
["THRB","Thyroid hormone resistance modifier","Pituitary thyroid hormone resistance","Autosomal Dominant","Generalized thyroid hormone resistance:Autosomal Dominant$Generalized thyroid hormone resistance:Autosomal Recessive$Thyroid Hormone Resistance, Selective Pituitary:Autosomal Dominant","Generalized thyroid hormone resistance:Autosomal Dominant$Generalized thyroid hormone resistance:Autosomal Recessive$Thyroid Hormone Resistance, Selective Pituitary:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7068[geneid]~-~190160~-","THRB"]
["THSD7A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612249~-","THSD7A"]
["THSD7B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","THSD7B"]
["TIA1","Welander distal myopathy","Distal muscular dystrophy","Autosomal Dominant","Distal muscular dystrophy:Autosomal Dominant","Distal muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7072[geneid]~-~603518~-","TIA1"]
["TICAM1","TRIF deficiency","Encephalitis due to human herpes simplex virus","Risk","Encephalitis due to human herpes simplex virus:Risk","Encephalitis due to human herpes simplex virus:Risk","HIGH","-~-~607601~-","TICAM1"]
["TIMM44","Oncocytic thyroid carcinoma","Hurthle cell carcinoma of thyroid","Autosomal Dominant",null,null,"HIGH","-~-~605058~-","TIMM44"]
["TIMM8A","Deafness, X-Linked 1","Deafness, X-Linked 1","X-linked Recessive","Deafness, X-Linked 1:X-linked Recessive$Deafness:X-linked Recessive$Jensen syndrome:X-linked Recessive$Mohr-Tranebjaerg syndrome:X-linked Recessive","Deafness:X-linked Recessive$Jensen syndrome:X-linked Recessive$Mohr-Tranebjaerg syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1678[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1216~300356~-","TIMM8A"]
["TIMM8A","Jensen syndrome","Jensen syndrome","X-linked Recessive","Deafness, X-Linked 1:X-linked Recessive$Deafness:X-linked Recessive$Jensen syndrome:X-linked Recessive$Mohr-Tranebjaerg syndrome:X-linked Recessive","Deafness:X-linked Recessive$Jensen syndrome:X-linked Recessive$Mohr-Tranebjaerg syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1678[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1216~300356~-","TIMM8A"]
["TIMM8A","Mohr-Tranebjaerg syndrome","Mohr-Tranebjaerg syndrome","X-linked Recessive","Deafness, X-Linked 1:X-linked Recessive$Deafness:X-linked Recessive$Jensen syndrome:X-linked Recessive$Mohr-Tranebjaerg syndrome:X-linked Recessive","Deafness:X-linked Recessive$Jensen syndrome:X-linked Recessive$Mohr-Tranebjaerg syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1678[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1216~300356~-","TIMM8A"]
["TIMP3","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk","Sorsby's fundus dystrophy:Autosomal Dominant","Sorsby's fundus dystrophy:Autosomal Dominant","HIGH","-~-~188826~-","TIMP3"]
["TIMP3","Fundus dystrophy, Sorsby","Sorsby's fundus dystrophy","Autosomal Dominant","Sorsby's fundus dystrophy:Autosomal Dominant","Sorsby's fundus dystrophy:Autosomal Dominant","HIGH","-~-~188826~-","TIMP3"]
["TINF2","Aplastic anaemia","Aplastic anemia","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~604319~-","TINF2"]
["TINF2","Bone marrow failure","Pancytopenia","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~604319~-","TINF2"]
["TINF2","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~604319~-","TINF2"]
["TINF2","Dyskeratosis congenita / aplastic anaemia","Dyskeratosis congenita;Aplastic anemia","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~604319~-","TINF2"]
["TINF2","Dyskeratosis congenita / Hoyeraal-Hreidarsson syndrome","Dyskeratosis congenita;Hoyeraal Hreidarsson syndrome","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~604319~-","TINF2"]
["TINF2","Hoyeraal-Hreidarsson / Revesz syndrome","Hoyeraal Hreidarsson syndrome;Revesz Debuse syndrome","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~604319~-","TINF2"]
["TINF2","Low white blood cells","White blood cell count low","Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","Dyskeratosis congenita:Autosomal Dominant$Revesz Debuse syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~604319~-","TINF2"]
["TIRAP","Lower ability to activate NF-KB","Bacteremia;Malaria;Pneumococcal infectious disease;Tuberculosis","Decreased Risk","Bacteremia:Decreased risk$Malaria:Decreased risk$Pneumococcal infectious disease:Decreased risk$Tuberculosis:Decreased risk","Bacteremia:Decreased risk$Malaria:Decreased risk$Pneumococcal infectious disease:Decreased risk$Tuberculosis:Decreased risk","HIGH","-~-~606252~-","TIRAP"]
["TIRAP","TiRAP deficiency","Immunodeficiency disorder","Autosomal Recessive","Bacteremia:Decreased risk$Malaria:Decreased risk$Pneumococcal infectious disease:Decreased risk$Tuberculosis:Decreased risk","Bacteremia:Decreased risk$Malaria:Decreased risk$Pneumococcal infectious disease:Decreased risk$Tuberculosis:Decreased risk","HIGH","-~-~606252~-","TIRAP"]
["TJP2","Hypercholanaemia","Hypercholanemia, Familial","Autosomal Recessive","Hypercholanemia, Familial:Autosomal Recessive","Hypercholanemia, Familial:Autosomal Recessive","HIGH","-~-~607709~-","TJP2"]
["TK2","Epileptic encephalomyopathy","Mitochondrial encephalomyopathy","Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7084[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114628~188250~-","TK2"]
["TK2","Mitochondrial DNA depletion syndrome","Depletion of mitochondrial DNA","Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7084[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114628~188250~-","TK2"]
["TK2","Mitochondrial DNA depletion syndrome with hearing loss","Depletion of mitochondrial DNA;Hearing loss","Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7084[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114628~188250~-","TK2"]
["TK2","Progressive external ophthalmoplegia","Progressive external ophthalmoplegia","Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7084[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK114628~188250~-","TK2"]
["TKT","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~606781~-","TKT"]
["TLL1","Atrial septal defect","Atrial Septal Defect 6;Atrial septal defect","Autosomal Dominant","Atrial Septal Defect 6:Autosomal Dominant$Atrial septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant","HIGH","-~-~606742~-","TLL1"]
["TLL1","Hyperinsulinism","Hyperinsulinism","Risk","Atrial Septal Defect 6:Autosomal Dominant$Atrial septal defect:Autosomal Dominant","Atrial septal defect:Autosomal Dominant","HIGH","-~-~606742~-","TLL1"]
["TLR1","Impaired receptor function","Leprosy","Risk","Leprosy:Risk","Leprosy:Risk","HIGH","-~-~601194~-","TLR1"]
["TLR3","Herpes simplex virus encephalitis, childhood","Encephalitis due to human herpes simplex virus","Risk","Encephalitis due to human herpes simplex virus:Risk","Encephalitis due to human herpes simplex virus:Risk","HIGH","-~-~603029~-","TLR3"]
["TLR3","TLR3 deficiency","Encephalitis due to human herpes simplex virus","Risk","Encephalitis due to human herpes simplex virus:Risk","Encephalitis due to human herpes simplex virus:Risk","HIGH","-~-~603029~-","TLR3"]
["TLR4","Altered monocyte receptor levels","Atherosclerosis","Risk","Endotoxin Hyporesponsiveness:Risk","Endotoxin Hyporesponsiveness:Risk","HIGH","-~-~603030~-","TLR4"]
["TLR4","Endotoxin Hyporesponsiveness","Endotoxin Hyporesponsiveness","Risk","Endotoxin Hyporesponsiveness:Risk","Endotoxin Hyporesponsiveness:Risk","HIGH","-~-~603030~-","TLR4"]
["TLR4","Increased expression","Sepsis-associated organ dysfunction","Risk","Endotoxin Hyporesponsiveness:Risk","Endotoxin Hyporesponsiveness:Risk","HIGH","-~-~603030~-","TLR4"]
["TLR4","Meningococcal disease","Meningococcal infectious disease","Risk","Endotoxin Hyporesponsiveness:Risk","Endotoxin Hyporesponsiveness:Risk","HIGH","-~-~603030~-","TLR4"]
["TLR4","Meningococcal disease susceptibility","Meningococcal infectious disease","Risk","Endotoxin Hyporesponsiveness:Risk","Endotoxin Hyporesponsiveness:Risk","HIGH","-~-~603030~-","TLR4"]
["TLR4","Monocyte receptor levels","Atherosclerosis","Risk","Endotoxin Hyporesponsiveness:Risk","Endotoxin Hyporesponsiveness:Risk","HIGH","-~-~603030~-","TLR4"]
["TLR5","Chronic yersiniosis susceptibility","Yersiniosis","Risk","Legionnaire's disease:Risk$Systemic lupus erythematosus:Risk$Melioidosis:Risk","Legionnaire's disease:Risk$Systemic lupus erythematosus:Risk$Melioidosis:Risk","HIGH","-~-~603031~-","TLR5"]
["TLR5","Immunodeficiency","Immunodeficiency disorder;Yersiniosis","Autosomal Recessive","Legionnaire's disease:Risk$Systemic lupus erythematosus:Risk$Melioidosis:Risk","Legionnaire's disease:Risk$Systemic lupus erythematosus:Risk$Melioidosis:Risk","HIGH","-~-~603031~-","TLR5"]
["TLR5","Reduced function","Legionnaire's disease","Risk","Legionnaire's disease:Risk$Systemic lupus erythematosus:Risk$Melioidosis:Risk","Legionnaire's disease:Risk$Systemic lupus erythematosus:Risk$Melioidosis:Risk","HIGH","-~-~603031~-","TLR5"]
["TLR8","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~300366~-","TLR8"]
["TLR9","Altered receptor function","Infectious disease","Risk",null,null,"HIGH","-~-~605474~-","TLR9"]
["TLR9","Increased MyD88 binding / reduced CpG ODN responsiveness","Drug Response","Pharmacogenetic","NULL","NULL","HIGH","-~-~605474~-","TLR9"]
["TLR9","Tuberculosis","Susceptibility to tuberculosis;Abnormal susceptibility to infections","Autosomal Dominant",null,null,"HIGH","-~-~605474~-","TLR9"]
["TM4SF19","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116211[geneid]~-~-~-","TM4SF19"]
["TMC1","Deafness","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness, Autosomal Recessive 7:Autosomal Recessive$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=117531[geneid]~-~606706~-","TMC1"]
["TMC1","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness, Autosomal Recessive 7:Autosomal Recessive$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=117531[geneid]~-~606706~-","TMC1"]
["TMC1","Deafness, non-syndromic, Autosomal Dominant","Deafness","Autosomal Dominant","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness, Autosomal Recessive 7:Autosomal Recessive$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=117531[geneid]~-~606706~-","TMC1"]
["TMC1","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness, Autosomal Recessive 7:Autosomal Recessive$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=117531[geneid]~-~606706~-","TMC1"]
["TMC1","DFNB7/B11 deafness","Deafness","Autosomal Recessive","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness, Autosomal Recessive 7:Autosomal Recessive$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=117531[geneid]~-~606706~-","TMC1"]
["TMC1","Hearing loss","Hearing loss","Autosomal Recessive","Deafness, Autosomal Dominant 36:Autosomal Dominant$Deafness, Autosomal Recessive 7:Autosomal Recessive$Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","Deafness:Autosomal Dominant$Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=117531[geneid]~-~606706~-","TMC1"]
["TMC3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","TMC3"]
["TMC6","Epidermodysplasia verruciformis","Epidermodysplasia verruciformis","Autosomal Recessive","Epidermodysplasia verruciformis:Autosomal Recessive","Epidermodysplasia verruciformis:Autosomal Recessive","HIGH","-~-~605828~-","TMC6"]
["TMC8","Epidermodysplasia verruciformis","Epidermodysplasia verruciformis","Autosomal Recessive","Epidermodysplasia verruciformis:Autosomal Recessive","Epidermodysplasia verruciformis:Autosomal Recessive","HIGH","-~-~605829~-","TMC8"]
["TMCO1","Craniofacial dysmorphism, skeletal anomalies & mental retardation",", skeletal anomalies, and mental retardation syndrome","Autosomal Recessive","Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome:Autosomal Recessive","Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome:Autosomal Recessive","HIGH","-~-~614123~-","TMCO1"]
["TMEM126A","Optic atrophy, nonsyndromic","Optic Atrophy 7;Optic atrophy","Autosomal Recessive","Optic Atrophy 7:Autosomal Recessive$Optic atrophy:Autosomal Recessive","Optic atrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84233[geneid]~-~612988~-","TMEM126A"]
["TMEM127","Extraadrenal paraganglial tumours","Extra-adrenal paraganglioma","Autosomal Dominant","Pheochromocytoma:Risk","Pheochromocytoma:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55654[geneid]~-~613403~-","TMEM127"]
["TMEM127","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Pheochromocytoma:Risk","Pheochromocytoma:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55654[geneid]~-~613403~-","TMEM127"]
["TMEM132D","Panic disorder","Panic disorder ","Risk",null,null,"HIGH","-~-~611257~-","TMEM132D"]
["TMEM135","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65084[geneid]~-~-~-","TMEM135"]
["TMEM138","Joubert syndrome 2","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51524[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~614459~-","TMEM138"]
["TMEM165","Congenital disorder of glycosylation 2","Congenital disorder of glycosylation, type II","Autosomal Recessive","Congenital disorder of glycosylation, type II:Autosomal Recessive$Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","Carbohydrate-deficient glycoprotein syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1332~614726~-","TMEM165"]
["TMEM173","Defective IFNbeta stimulation","Interferon beta defect;Viral Infection Susceptibility","Autosomal Recessive",null,null,"HIGH","-~-~612374~-","TMEM173"]
["TMEM187","Leukodystrophy, X-linked","Leukodystrophy","X-linked Recessive",null,null,"HIGH","-~-~300059~-","TMEM187"]
["TMEM216","Joubert syndrome 2","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Joubert syndrome 2:Autosomal Recessive$Meckel syndrome type 2:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51259[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~613277~-","TMEM216"]
["TMEM216","Joubert syndrome-related disorder","Familial aplasia of the vermis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Joubert syndrome 2:Autosomal Recessive$Meckel syndrome type 2:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51259[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~613277~-","TMEM216"]
["TMEM216","Meckel syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Joubert syndrome 2:Autosomal Recessive$Meckel syndrome type 2:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51259[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~613277~-","TMEM216"]
["TMEM22","Complex I deficiency","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency","Risk","Mitochondrial complex I deficiency:Risk$Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency:Risk","Mitochondrial complex I deficiency:Risk",null,"-~-~-~-","TMEM22"]
["TMEM231","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","Joubert syndrome 20:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1325~614949~-","TMEM231"]
["TMEM231","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","Joubert syndrome 20:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1325~614949~-","TMEM231"]
["TMEM43","Arrhythmogenic right ventricular cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79188[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~612048~-","TMEM43"]
["TMEM43","Arrhythmogenic right ventricular dysplasia/cardiomyopathy","Arrhythmogenic Right Ventricular Dysplasia, Familial, 5","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79188[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~612048~-","TMEM43"]
["TMEM43","EDMD-related myopathy","Emery-Dreifuss muscular dystrophy","Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant","Arrhythmogenic right ventricular dysplasia:Autosomal Dominant$Emery-Dreifuss muscular dystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79188[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1131~612048~-","TMEM43"]
["TMEM5","Cobblestone lissencephaly","Type 2 lissencephaly","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","-~-~605862~-","TMEM5"]
["TMEM5","Muscle-eye-brain disease","Muscle eye brain disease","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","-~-~605862~-","TMEM5"]
["TMEM5","Walker-Warburg syndrome","Walker-Warburg congenital muscular dystrophy","Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","Muscle eye brain disease:Autosomal Recessive$Walker-Warburg congenital muscular dystrophy:Autosomal Recessive","HIGH","-~-~605862~-","TMEM5"]
["TMEM67","Bardet-Biedl syndrome","Bardet-Biedl Syndrome 14","Modifier","COACH syndrome:Autosomal Recessive$Joubert syndrome 6:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel syndrome type 3:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609884~-","TMEM67"]
["TMEM67","COACH syndrome","COACH syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 6:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel syndrome type 3:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609884~-","TMEM67"]
["TMEM67","Joubert syndrome","Familial aplasia of the vermis","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 6:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel syndrome type 3:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609884~-","TMEM67"]
["TMEM67","Meckel syndrome","Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 6:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel syndrome type 3:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609884~-","TMEM67"]
["TMEM67","Meckel syndrome with cerebellar heterotopia","Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 6:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel syndrome type 3:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609884~-","TMEM67"]
["TMEM67","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 6:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel syndrome type 3:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609884~-","TMEM67"]
["TMEM67","Nephronophthisis with liver fibrosis","Nephronophthisis;Hepatic fibrosis","Autosomal Recessive","COACH syndrome:Autosomal Recessive$Joubert syndrome 6:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel syndrome type 3:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","COACH syndrome:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive$Meckel-Gruber syndrome:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=91147[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~609884~-","TMEM67"]
["TMEM70","3-methylglutaconic aciduria type 4","3-Methylglutaconic aciduria type 4","Autosomal Recessive","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency:Autosomal Recessive$Mitochondrial encephalomyopathy:Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54968[geneid]~-~612418~-","TMEM70"]
["TMEM70","ATP synthase deficiency","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency","Autosomal Recessive","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency:Autosomal Recessive$Mitochondrial encephalomyopathy:Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54968[geneid]~-~612418~-","TMEM70"]
["TMEM70","Autism spectrum disorder","Autistic Disorder","Risk","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency:Autosomal Recessive$Mitochondrial encephalomyopathy:Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54968[geneid]~-~612418~-","TMEM70"]
["TMEM70","Cataract & neonatal mitochondrial encephalo-cardiomyopathy","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency;Cataract","Autosomal Recessive","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency:Autosomal Recessive$Mitochondrial encephalomyopathy:Autosomal Recessive","Mitochondrial encephalomyopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54968[geneid]~-~612418~-","TMEM70"]
["TMEM85","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51234[geneid]~-~-~-","EMC4"]
["TMEM8A","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=58986[geneid]~-~-~-","TMEM8A"]
["TMIE","Deafness","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 6:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=259236[geneid]~-~607237~-","TMIE"]
["TMLHE","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300777~-","TMLHE"]
["TMLHE","Autism and intellectual disability","Autistic Disorder;Intellectual Disability","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300777~-","TMLHE"]
["TMLHE","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300777~-","TMLHE"]
["TMPO","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1T:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7112[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~188380~-","TMPO"]
["TMPRSS3","Deafness, childhood onset","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64699[geneid]~-~605511~-","TMPRSS3"]
["TMPRSS3","Deafness, non-syndromic, Autosomal Recessive","Deafness","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64699[geneid]~-~605511~-","TMPRSS3"]
["TMPRSS3","Hearing loss, non-syndromic","Hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64699[geneid]~-~605511~-","TMPRSS3"]
["TMPRSS3","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64699[geneid]~-~605511~-","TMPRSS3"]
["TMPRSS3","Hearing loss, non-syndromic, sensorineural","Hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64699[geneid]~-~605511~-","TMPRSS3"]
["TMPRSS3","Neurosensory deafness","Sensorineural hearing loss","Autosomal Recessive","Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64699[geneid]~-~605511~-","TMPRSS3"]
["TMPRSS5","Deafness","Deafness","Autosomal Dominant","Deafness:Risk","Deafness:Risk","HIGH","-~-~606751~-","TMPRSS5"]
["TMPRSS6","Iron deficiency anaemia","Microcytic anemia","Autosomal Recessive","Iron-Refractory Iron Deficiency Anemia:Autosomal Recessive$Microcytic anemia:Autosomal Recessive","Microcytic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=164656[geneid]~-~609862~-","TMPRSS6"]
["TMPRSS6","Iron-refractory iron deficiency anaemia ","Microcytic anemia","Autosomal Recessive","Iron-Refractory Iron Deficiency Anemia:Autosomal Recessive$Microcytic anemia:Autosomal Recessive","Microcytic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=164656[geneid]~-~609862~-","TMPRSS6"]
["TMPRSS6","Microcytic anaemia & iron deficiency","Microcytic anemia;Iron deficiency","Autosomal Recessive","Iron-Refractory Iron Deficiency Anemia:Autosomal Recessive$Microcytic anemia:Autosomal Recessive","Microcytic anemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=164656[geneid]~-~609862~-","TMPRSS6"]
["TNC","Hearing loss, non-syndromic","Hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant","Deafness:Autosomal Dominant","HIGH","-~-~187380~-","TNC"]
["TNFAIP3","Reduced expression","Rheumatoid arthritis","Autosomal Recessive",null,null,"HIGH","-~-~191163~-","TNFAIP3"]
["TNFRSF10B","Squamous cell carcinoma, head and neck","Carcinoma, squamous cell of head and neck","Autosomal Dominant","Carcinoma, squamous cell of head and neck:Autosomal Recessive","Carcinoma, squamous cell of head and neck:Autosomal Recessive","HIGH","-~-~603612~-","TNFRSF10B"]
["TNFRSF11A","Expansile skeletal hyperphosphatasia","Hyperphosphatasemia with bone disease","Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 7:Autosomal Recessive$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant$Paget disease of bone:Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant","HIGH","-~-~603499~-","TNFRSF11A"]
["TNFRSF11A","Familial expansile osteolysis","Familial expansile osteolysis","Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 7:Autosomal Recessive$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant$Paget disease of bone:Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant","HIGH","-~-~603499~-","TNFRSF11A"]
["TNFRSF11A","Osteitis deformans","Osteitis deformans","Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 7:Autosomal Recessive$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant$Paget disease of bone:Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant","HIGH","-~-~603499~-","TNFRSF11A"]
["TNFRSF11A","Osteopetrosis, Autosomal Recessive","Osteopetrosis","Autosomal Recessive","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 7:Autosomal Recessive$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant$Paget disease of bone:Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant","HIGH","-~-~603499~-","TNFRSF11A"]
["TNFRSF11A","Osteopetrosis, RANK-dependent, Autosomal Recessive","Osteopetrosis","Autosomal Recessive","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis, Autosomal Recessive 7:Autosomal Recessive$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant$Paget disease of bone:Autosomal Dominant","Familial expansile osteolysis:Autosomal Dominant$Osteopetrosis:Autosomal Recessive$Osteitis deformans:Autosomal Dominant","HIGH","-~-~603499~-","TNFRSF11A"]
["TNFRSF11B","Altered splicing","Decreased bone mineral density","Risk","Hyperphosphatasemia with bone disease:Autosomal Recessive","Hyperphosphatasemia with bone disease:Autosomal Recessive","HIGH","-~-~602543~-","BTF3P11"]
["TNFRSF11B","Paget disease, juvenile","Hyperphosphatasemia with bone disease","Autosomal Recessive","Hyperphosphatasemia with bone disease:Autosomal Recessive","Hyperphosphatasemia with bone disease:Autosomal Recessive","HIGH","-~-~602543~-","BTF3P11"]
["TNFRSF13C","Immunodeficiency, common variable","Common variable agammaglobulinemia","Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","Common variable agammaglobulinemia:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1299~606269~-","TNFRSF13C"]
["TNFRSF1A","Juvenile idiopathic arthritis","Juvenile idiopathic arthritis","Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF1A","Multiple sclerosis","Multiple sclerosis","Risk","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF1A","Periodic fever syndrome","Hereditary periodic fever","Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF1A","Periodic fever with AA amyloidosis","Hereditary periodic fever;AA amyloidosis","Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF1A","Periodic fever with amyloidosis","Hereditary periodic fever;AA amyloidosis","Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF1A","Periodic fever, atypical","Hereditary periodic fever","Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF1A","Periodic fever, Autosomal Dominant","Hereditary periodic fever","Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF1A","Systemic lupus erythematosus","Systemic lupus erythematosus","Risk","Hereditary periodic fever:Autosomal Dominant","Hereditary periodic fever:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7132[geneid]~-~191190~-","TNFRSF1A"]
["TNFRSF6B","Systemic lupus erythematosus","Systemic lupus erythematosus","Modifier",null,null,"HIGH","-~-~603361~-","TNFRSF6B"]
["TNFSF11","Osteopetrosis, Autosomal Recessive","Osteopetrosis","Autosomal Recessive","Osteopetrosis, mild Autosomal Recessive form:Autosomal Recessive$Osteopetrosis:Autosomal Recessive","Osteopetrosis:Autosomal Recessive","HIGH","-~-~602642~-","TNFSF11"]
["TNFSF12","Antibody deficiency","Common variable agammaglobulinemia","Autosomal Dominant",null,null,"HIGH","-~-~602695~-","TNFSF12"]
["TNFSF14","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604520~-","TNFSF14"]
["TNFSF14","Altered receptor binding","Inflammatory disorder","Risk","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~604520~-","TNFSF14"]
["TNFSF18","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603898~-","TNFSF18"]
["TNFSF8","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~603875~-","TNFSF8"]
["TNKS","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603303~-","TNKS"]
["TNNC1","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1z;Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1Z:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 13:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~191040~-","TNNC1"]
["TNNC1","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Dilated, 1Z:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 13:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7134[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~191040~-","TNNC1"]
["TNNI2","Distal arthrogryposis syndrome 2a","Arthrogryposis multiplex congenita, distal type 2","Autosomal Dominant","Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant","Distal arthrogryposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7136[geneid]~-~191043~-","TNNI2"]
["TNNI2","Distal arthrogryposis syndrome 2b","Arthrogryposis multiplex congenita, distal type 2","Autosomal Dominant","Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant","Distal arthrogryposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7136[geneid]~-~191043~-","TNNI2"]
["TNNI3","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1FF;Dilated cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1FF:Autosomal Dominant$Cardiomyopathy, Dilated, 2A:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~191044~-","TNNI3"]
["TNNI3","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 2A;Dilated cardiomyopathy","Autosomal Recessive","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1FF:Autosomal Dominant$Cardiomyopathy, Dilated, 2A:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~191044~-","TNNI3"]
["TNNI3","Cardiomyopathy, hypertrophic","Hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1FF:Autosomal Dominant$Cardiomyopathy, Dilated, 2A:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~191044~-","TNNI3"]
["TNNI3","Cardiomyopathy, restrictive","Primary restrictive cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1FF:Autosomal Dominant$Cardiomyopathy, Dilated, 2A:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~191044~-","TNNI3"]
["TNNI3","Increased left ventricular wall thickness","Hypertrophic cardiomyopathy","Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Cardiomyopathy, Dilated, 1FF:Autosomal Dominant$Cardiomyopathy, Dilated, 2A:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Recessive$Hypertrophic cardiomyopathy:Autosomal Dominant$Restrictive cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7137[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768~191044~-","TNNI3"]
["TNNT1","Nemaline myopathy, Amish type","Nemaline myopathy 5","Autosomal Recessive","Nemaline myopathy 5:Autosomal Recessive$Nemaline myopathy:Autosomal Recessive","Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7138[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1288~191041~-","TNNT1"]
["TNNT2","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1D;Dilated cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1D:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 2:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Restrictive, 3:Autosomal Dominant$Left ventricular noncompaction 6:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7139[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1768~191045~-","TNNT2"]
["TNNT2","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 2;Hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1D:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 2:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Restrictive, 3:Autosomal Dominant$Left ventricular noncompaction 6:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7139[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1768~191045~-","TNNT2"]
["TNNT2","Cardiomyopathy, restrictive","Cardiomyopathy, Familial Restrictive, 3;Primary restrictive cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1D:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 2:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Restrictive, 3:Autosomal Dominant$Left ventricular noncompaction 6:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7139[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1768~191045~-","TNNT2"]
["TNNT2","Increased left ventricular wall thickness","Left ventricular noncompaction 6;Hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1D:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 2:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Restrictive, 3:Autosomal Dominant$Left ventricular noncompaction 6:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7139[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1768~191045~-","TNNT2"]
["TNNT3","Distal arthrogryposis syndrome 2b","Distal arthrogryposis type 2B","Autosomal Dominant","Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant","Distal arthrogryposis syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7140[geneid]~-~600692~-","TNNT3"]
["TNPO2","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~603002~-","TNPO2"]
["TNPO3","Muscular dystrophy, limb girdle 1F","Muscular Dystrophy, Limb-Girdle, Type 1F","Autosomal Dominant",null,null,"HIGH","-~-~610032~-","TNPO3"]
["TNXB","Ehlers-Danlos syndrome","Ehlers-Danlos syndrome, type 3","Autosomal Dominant","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome caused by tenascin-X deficiency:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7148[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1279~600985~-","TNXB"]
["TNXB","Ehlers-Danlos syndrome, Autosomal Recessive","Ehlers-Danlos syndrome caused by tenascin-X deficiency","Autosomal Recessive","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome caused by tenascin-X deficiency:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7148[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1279~600985~-","TNXB"]
["TNXB","Tenascin-X deficiency","Ehlers-Danlos syndrome caused by tenascin-X deficiency","Autosomal Recessive","Ehlers-Danlos syndrome, type 3:Autosomal Dominant$Ehlers-Danlos syndrome caused by tenascin-X deficiency:Autosomal Recessive$Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive","Ehlers-Danlos syndrome:Autosomal Dominant$Ehlers-Danlos syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7148[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1279~600985~-","TNXB"]
["TOP1","Autism","Autistic Disorder","Risk","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~126420~-","TOP1"]
["TOPORS","Autism","Autistic Disorder","Risk","Retinitis Pigmentosa 31:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10210[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~609507~-","TOPORS"]
["TOPORS","Retinitis pigmentosa","Retinitis Pigmentosa 31;Retinitis pigmentosa","Autosomal Dominant","Retinitis Pigmentosa 31:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant","Retinitis pigmentosa:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10210[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~609507~-","TOPORS"]
["TOR1A","Focal dystonia, late onset","Focal dystonia","Autosomal Dominant","Dystonia:Autosomal Dominant$Dystonia musculorum deformans type 1:Autosomal Dominant$Torsion dystonia:Autosomal Dominant","Dystonia:Autosomal Dominant$Torsion dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1861[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1492~605204~-","TOR1A"]
["TOR1A","Torsion dystonia, early onset","Torsion dystonia","Autosomal Dominant","Dystonia:Autosomal Dominant$Dystonia musculorum deformans type 1:Autosomal Dominant$Torsion dystonia:Autosomal Dominant","Dystonia:Autosomal Dominant$Torsion dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1861[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1492~605204~-","TOR1A"]
["TOR1A","Torsion-A deficiency","Torsion dystonia","Autosomal Dominant","Dystonia:Autosomal Dominant$Dystonia musculorum deformans type 1:Autosomal Dominant$Torsion dystonia:Autosomal Dominant","Dystonia:Autosomal Dominant$Torsion dystonia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1861[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1492~605204~-","TOR1A"]
["TP53","Acute lymphoblastic leukaemia","Acute lymphoid leukemia, disease","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Adenocarcinoma","Malignant adenomatous neoplasm","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Adrenocortical carcinoma","Adrenal cortical carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Adrenocortical carcinoma, childhood","Adrenal cortical carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Adrenocortical tumour","Adrenal cortical carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Astrocytoma","Astrocytoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Basal cell carcinoma","Basal cell carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Breast and colorectal cancer","Malignant tumor of breast;Colorectal Cancer","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Breast and/or ovarian cancer","Malignant tumor of breast;Malignant tumor of ovary","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Carcinoma","Carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Carcinoma of Ampulla of Vater","Carcinoma of ampulla of Vater","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Childhood adrenocortical tumour","Adrenal cortical carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Choroid plexus carcinoma","Choroid plexus carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Choroid plexus carcinoma, childhood","Choroid plexus carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Choroid plexus tumours","Choroid plexus carcinoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Colorectal cancer","Colorectal Cancer","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Cytosarcoma phyllodes","Malignant cystosarcoma phyllodes","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Ependymoma","Ependymoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Familial adenomatous polyposis","Familial multiple polyposis syndrome","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Familial brain tumour syndrome","Turcot syndrome","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Gastric cancer","Malignant tumor of stomach","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Glioblastoma","Glioblastoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Glioblastoma & colon cancer","Glioblastoma;Malignant tumor of colon","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Glioma","Glioma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Leukaemia/lymphoma","Leukemia;Malignant lymphoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Li-Fraumeni syndrome","Li-Fraumeni syndrome","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Li-Fraumeni syndrome with gastric cancer","Li-Fraumeni syndrome;Malignant tumor of stomach","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Li-Fraumeni-like syndrome","Li-Fraumeni syndrome","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Lung cancer","Malignant tumor of lung","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Medulloblastoma","Medulloblastoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Meningioma","Meningioma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Multiple cancers","Multiple malignancy","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Multiple diverse neoplasms","Multiple malignancy","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Myelodysplastic/myeloproliferative disease","Myelodysplastic/myeloproliferative disease","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Neuroblastoma","Neuroblastoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Neuroectodermal tumour","Peripheral neuroectodermal tumor","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Osteosarcoma","Osteosarcoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Ovarian carcinoma","Malignant tumor of ovary","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Peritoneal carcinoma","Carcinoma of peritoneum","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Prostrate cancer","Malignant tumor of prostate","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Rhabdomyosarcoma","Rhabdomyosarcoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Sarcoma","Sarcoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Sarcoma, adult-onset","Sarcoma","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP53","Thyroid tumour","Neoplasm of thyroid gland","Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","Adrenal cortical carcinoma:Autosomal Dominant$Malignant tumor of breast:Autosomal Dominant$Choroid Plexus Papilloma:Autosomal Dominant$Colorectal cancer:Autosomal Dominant$Hepatocellular carcinoma:Autosomal Dominant$Li-Fraumeni syndrome:Autosomal Dominant$Nasopharyngeal carcinoma:Autosomal Dominant$Osteosarcoma:Autosomal Dominant$Malignant neoplasm of pancreas:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7157[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1311~191170~-","TP53"]
["TP63","ADULT syndrome","Propping Zerres syndrome","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","ADULT syndrome with cleft palate","Propping Zerres syndrome;Cleft palate","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","AEC / Rapp-Hodgkin syndrome","Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","AEC syndrome","Hay-Wells syndrome of ectodermal dysplasia","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","Cleft lip, non-syndromic","Cleft lip","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","Cleft palate, hypohidrosis and oligodontia","Cleft palate;Hypohidrosis;Partial congenital absence of teeth","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","EEC syndrome","Ectrodactyly-ectodermal dysplasia-clefting syndrome","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","EEC syndrome without clefting","Ectrodactyly-ectodermal dysplasia-clefting syndrome","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","EECUT plus syndrome","Ectrodactyly-ectodermal dysplasia-clefting syndrome;Congenital malformation of the urinary system","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","Limb-mammary syndrome","Limb-mammary syndrome","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","Rapp-Hodgkin syndrome","Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","Rapp-Hodgkin/AEC/ADULT syndrome","Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TP63","Split-hand/split-foot malformation","Split-Hand/Foot Malformation","Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial Cleft 8:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant$Split-Hand/Foot Malformation 4:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","Propping Zerres syndrome:Autosomal Dominant$Ectrodactyly-ectodermal dysplasia-clefting syndrome:Autosomal Dominant$Hay-Wells syndrome:Autosomal Dominant$Limb-mammary syndrome:Autosomal Dominant$Orofacial cleft:Autosomal Dominant$Rapp-Hodgkin syndrome:Autosomal Dominant$Split-Hand/Foot Malformation:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8626[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK43797~603273~-","TP63"]
["TPH1","Attention deficit hyperactivity disorder","Attention deficit hyperactivity disorder","Modifier","Attention deficit hyperactivity disorder:Risk","Attention deficit hyperactivity disorder:Risk","HIGH","-~-~191060~-","TPH1"]
["TPH2","Altered gene expression","Psychiatric disorder","Risk","Attention deficit hyperactivity disorder:Risk$Psychiatric disorder:Risk","Attention deficit hyperactivity disorder:Risk$Psychiatric disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=121278[geneid]~-~607478~-","TPH2"]
["TPH2","Attention deficit hyperactivity disorder","Attention deficit hyperactivity disorder","Risk","Attention deficit hyperactivity disorder:Risk$Psychiatric disorder:Risk","Attention deficit hyperactivity disorder:Risk$Psychiatric disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=121278[geneid]~-~607478~-","TPH2"]
["TPH2","Tryptophan hydroxylase 2 deficiency","Psychiatric disorder","Risk","Attention deficit hyperactivity disorder:Risk$Psychiatric disorder:Risk","Attention deficit hyperactivity disorder:Risk$Psychiatric disorder:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=121278[geneid]~-~607478~-","TPH2"]
["TPI1","Triosephosphate isomerase deficiency","HNSHA due to triosephosphate isomerase deficiency","Autosomal Recessive","HNSHA due to triosephosphate isomerase deficiency:Autosomal Dominant$Hemolytic anemia:Autosomal Dominant","Hemolytic anemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7167[geneid]~-~190450~-","TPI1"]
["TPK1","Autism","Autistic Disorder","Risk","Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type):Autosomal Recessive","Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type):Autosomal Recessive","HIGH","-~-~606370~-","TPK1"]
["TPK1","Thiamine pyrophosphokinase deficiency","Thiamine metabolism dysfunction syndrome 5","Autosomal Recessive","Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type):Autosomal Recessive","Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type):Autosomal Recessive","HIGH","-~-~606370~-","TPK1"]
["TPM1","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1y;Dilated cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1Y:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 3:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7168[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~191010~-","TPM1"]
["TPM1","Cardiomyopathy, dilated non-compaction","Cardiomyopathy, Dilated, with Left Ventricular Noncompaction","Autosomal Dominant","Cardiomyopathy, Dilated, 1Y:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 3:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7168[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~191010~-","TPM1"]
["TPM1","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 3;Hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1Y:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 3:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7168[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~191010~-","TPM1"]
["TPM1","Cardiomyopathy, non-compaction, left ventricular","Left ventricular myocardial noncompaction cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1Y:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 3:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7168[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~191010~-","TPM1"]
["TPM1","Cardiomyopathy, restrictive","Primary restrictive cardiomyopathy","Autosomal Recessive","Cardiomyopathy, Dilated, 1Y:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 3:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Left ventricular myocardial noncompaction cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7168[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1768$http://www.ncbi.nlm.nih.gov/books/NBK1309~191010~-","TPM1"]
["TPM2","Cap disease","Congenital myopathy with uniform fiber type","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Cap Myopathy, Tpm2-Related","Cap Myopathy, Tpm2-Related","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Congenital fibre type disproportion","Congenital myopathy with fiber type disproportion","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Congenital myopathy","Congenital myopathy with uniform fiber type","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Distal arthrogryposis syndrome 1","Arthrogryposis multiplex congenita, distal type 1;Distal arthrogryposis syndrome","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Distal arthrogryposis syndrome 2b","Arthrogryposis multiplex congenita, distal type 2","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Distal arthrogryposis type 2B","Distal arthrogryposis type 2B;Distal arthrogryposis syndrome","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Muscle weakness and distal limb deformity","Distal arthrogryposis syndrome","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Myopathy","Myopathy","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM2","Nemaline myopathy","Nemaline myopathy 4;Nemaline myopathy","Autosomal Dominant","Arthrogryposis multiplex congenita, distal type 1:Autosomal Dominant$Arthrogryposis:Autosomal Dominant$Distal arthrogryposis type 2B:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy 4:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","Arthrogryposis:Autosomal Dominant$Distal arthrogryposis syndrome:Autosomal Dominant$Cap Myopathy, Tpm2-Related:Autosomal Dominant$Nemaline myopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7169[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~190990~-","TPM2"]
["TPM3","Cap Myopathy, Tpm3-Related","Cap Myopathy, Tpm3-Related","Autosomal Dominant","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy 1:Autosomal Dominant$Nemaline myopathy 1:Autosomal Recessive$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7170[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~191030~-","TPM3"]
["TPM3","Fibre-type disproportion myopathy, congenital","Congenital myopathy with fiber type disproportion","Autosomal Dominant","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy 1:Autosomal Dominant$Nemaline myopathy 1:Autosomal Recessive$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7170[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~191030~-","TPM3"]
["TPM3","Nemaline myopathy","Nemaline myopathy 1;Nemaline myopathy","Autosomal Dominant","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy 1:Autosomal Dominant$Nemaline myopathy 1:Autosomal Recessive$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7170[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~191030~-","TPM3"]
["TPM3","Nemaline myopathy","Nemaline myopathy 1;Nemaline myopathy","Autosomal Recessive","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy 1:Autosomal Dominant$Nemaline myopathy 1:Autosomal Recessive$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","Cap Myopathy, Tpm3-Related$Congenital myopathy with fiber type disproportion$Nemaline myopathy:Autosomal Dominant$Nemaline myopathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7170[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1259$http://www.ncbi.nlm.nih.gov/books/NBK1288~191030~-","TPM3"]
["TPMT","Reduced expression","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~187680~-","TPMT"]
["TPMT","Thiopurine S-methyltransferase variant","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~187680~-","TPMT"]
["TPMT","TPMT deficiency","Thiopurine methyltransferase deficiency","Autosomal Recessive","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~187680~-","TPMT"]
["TPO","Foetal hyperthyroidism","Hyperthyroidism","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPO","Goitre","Goiter","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPO","Goitrous hypothyroidism","Congenital hypothyroidism with diffuse goiter","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPO","Hypothyroidism","Hypothyroidism","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPO","Partial iodide organification defect","Hypothyroidism due to iodide organification defect","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPO","Thyroid dyshormonogenesis","Deficiency of iodide peroxidase","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPO","Thyroid peroxidase deficiency","Deficiency of iodide peroxidase","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPO","Total iodide organification defect","Hypothyroidism due to iodide organification defect","Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","Thrombocytosis:Autosomal Dominant$Thyroid Dyshormonogenesis 2A:Autosomal Recessive$Deficiency of iodide peroxidase:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7173[geneid]~-~606765~-","TPO"]
["TPP1","Lysosomal storage disease","Lysosomal Storage Disease","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 2:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607998~-","TPP1"]
["TPP1","Neuronal ceroid lipofuscinosis","Ceroid Lipofuscinosis, Neuronal, 2;Neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 2:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607998~-","TPP1"]
["TPP1","Neuronal ceroid lipofuscinosis, juvenile","Juvenile neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 2:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607998~-","TPP1"]
["TPP1","Neuronal ceroid lipofuscinosis, late infantile","Late-infantile neuronal ceroid lipofuscinosis","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 2:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607998~-","TPP1"]
["TPP1","Spinocerebellar ataxia 7","Spinocerebellar Ataxia Type 7","Autosomal Recessive","Ceroid Lipofuscinosis, Neuronal, 2:Autosomal Recessive$Neuronal ceroid lipofuscinosis:Autosomal Recessive","Neuronal ceroid lipofuscinosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1200[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1428~607998~-","TPP1"]
["TPP2","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~190470~-","TPP2"]
["TRA2A","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~602718~-","TRA2A"]
["TRADD","Acute lymphoblastic leukaemia","Acute lymphoid leukemia, disease","Autosomal Dominant","Acute lymphoid leukemia, disease:Autosomal Dominant","Acute lymphoid leukemia, disease:Autosomal Dominant","HIGH","-~-~603500~-","TRADD"]
["TRADD","Autoimmune lymphoproliferative syndrome","Lymphoproliferative disorder","Risk","Acute lymphoid leukemia, disease:Autosomal Dominant","Acute lymphoid leukemia, disease:Autosomal Dominant","HIGH","-~-~603500~-","TRADD"]
["TRAF3","TRAF3 deficiency","Encephalitis due to human herpes simplex virus","Autosomal Dominant","Encephalitis due to human herpes simplex virus:Risk","Encephalitis due to human herpes simplex virus:Risk","HIGH","-~-~601896~-","TRAF3"]
["TRAF6","Ectodermal dysplasia, hypohidrotic","Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome","Autosomal Dominant","Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","Autosomal Dominant hypohidrotic ectodermal dysplasia syndrome:Autosomal Dominant","HIGH","-~-~602355~-","TRAF6"]
["TRAF7","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606692~-","TRAF7"]
["TRAPPC11","Muscular dystrophy, limb girdle","Limb-girdle muscular dystrophy","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","-~-~614138~-","TRAPPC11"]
["TRAPPC11","Myopathy, infantile hyperkinetic movements, ataxia, and intellectual disability","Limb-girdle muscular dystrophy;Myopathy;Intellectual Disability","Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","-~-~614138~-","TRAPPC11"]
["TRAPPC2","Spondyloepiphyseal dysplasia tarda","Spondyloepiphyseal dysplasia tarda","X-linked Recessive","Spondyloepiphyseal dysplasia tarda:X-linked Recessive","Spondyloepiphyseal dysplasia tarda:X-linked Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1145~300202~-","TRAPPC2"]
["TRAPPC9","Intellectual disability & microcephaly","Intellectual Disability;Microcephalos","Autosomal Recessive","Mental Retardation, Autosomal Recessive 13:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83696[geneid]~-~611966~-","TRAPPC9"]
["TRAPPC9","Mental retardation, non-syndromic, Autosomal Recessive","Mental retardation","Autosomal Recessive","Mental Retardation, Autosomal Recessive 13:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=83696[geneid]~-~611966~-","TRAPPC9"]
["TRDN","Catecholaminergic polymorphic ventricular tachycardia","Catecholaminergic polymorphic ventricular tachycardia","Autosomal Recessive","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Recessive","Catecholaminergic polymorphic ventricular tachycardia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10345[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1289~603283~-","TRDN"]
["TREM2","Alzheimer disease","Alzheimer's disease","Risk","Nasu-Hakola disease:Autosomal Recessive$Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~605086~-","TREM2"]
["TREM2","Alzheimer disease, increased risk","Alzheimer's disease","Risk","Nasu-Hakola disease:Autosomal Recessive$Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~605086~-","TREM2"]
["TREM2","Dementia, early-onset, without bone cysts","Presenile dementia","Autosomal Recessive","Nasu-Hakola disease:Autosomal Recessive$Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~605086~-","TREM2"]
["TREM2","Frontotemporal dementia-like syndrome","Frontotemporal dementia","Autosomal Recessive","Nasu-Hakola disease:Autosomal Recessive$Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~605086~-","TREM2"]
["TREM2","Frontotemporal lobar degeneration, behavioural variant","Frontotemporal Lobar Degeneration","Autosomal Recessive","Nasu-Hakola disease:Autosomal Recessive$Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~605086~-","TREM2"]
["TREM2","Nasu-Hakola disease","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy","Autosomal Recessive","Nasu-Hakola disease:Autosomal Recessive$Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~605086~-","TREM2"]
["TREM2","Presenile dementia with bone cysts","Presenile dementia with bone cysts","Autosomal Recessive","Nasu-Hakola disease:Autosomal Recessive$Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~605086~-","TREM2"]
["TREX1","Aicardi-Goutieres syndrome","Aicardi-Goutieres syndrome","Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606609~-","TREX1"]
["TREX1","Aicardi-Goutieres syndrome","Aicardi-Goutieres syndrome","Autosomal Recessive","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606609~-","TREX1"]
["TREX1","Chilblain lupus, familial","Chilblain lupus erythematosus","Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606609~-","TREX1"]
["TREX1","Chillblain lupus","Chilblain lupus erythematosus","Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606609~-","TREX1"]
["TREX1","Retinal vasculopathy with cerebral leukodystrophy","Vasculopathy, Retinal, With Cerebral Leukodystrophy","Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606609~-","TREX1"]
["TREX1","Systemic lupus erythematosus","Systemic lupus erythematosus","Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","Aicardi-Goutieres syndrome:Autosomal Recessive$Aicardi-Goutieres syndrome:Autosomal Dominant$Chilblain lupus erythematosus:Autosomal Dominant$Vasculopathy, Retinal, With Cerebral Leukodystrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11277[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1475~606609~-","TREX1"]
["TREX2","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~300370~-","TREX2"]
["TRHR","Isolated central hypothyroidism","Central hypothyroidism","Autosomal Recessive","Thyrotropin-Releasing Hormone Resistance, Generalized:Autosomal Recessive$Central hypothyroidism:Autosomal Recessive","Thyrotropin-Releasing Hormone Resistance, Generalized:Autosomal Recessive$Central hypothyroidism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7201[geneid]~-~188545~-","TRHR"]
["TRIM17","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~606123~-","TRIM17"]
["TRIM2","Axonal neuropathy, early-onset","Charcot-Marie-Tooth Disease","Autosomal Recessive","Charcot-Marie-Tooth Disease:Autosomal Recessive","Charcot-Marie-Tooth Disease:Autosomal Recessive","HIGH","-~-~614141~-","TRIM2"]
["TRIM22","Altered p53 binding","Drug Response","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~606559~-","TRIM22"]
["TRIM32","Bardet-Biedl syndrome","Bardet-Biedl Syndrome 11;Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 11:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Limb-girdle muscular dystrophy type 2H:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~602290~-","TRIM32"]
["TRIM32","Muscular dystrophy, limb girdle 2H","Limb-girdle muscular dystrophy type 2H;Limb-girdle muscular dystrophy","Autosomal Recessive","Bardet-Biedl Syndrome 11:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Limb-girdle muscular dystrophy type 2H:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~602290~-","TRIM32"]
["TRIM32","Usher syndrome","NULL","no disease association mentioned in PMID 22025579","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22954[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363~602290~-","TRIM32"]
["TRIM37","Mulibrey nanism","Mulibrey nanism syndrome","Autosomal Recessive","Mulibrey nanism syndrome:Autosomal Recessive","Mulibrey nanism syndrome:Autosomal Recessive","HIGH","-~-~605073~-","TRIM37"]
["TRIM63","Hypertrophic cardiomyopathy","Hypertrophic cardiomyopathy","Risk",null,null,"HIGH","-~-~606131~-","TRIM63"]
["TRIO","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601893~-","TRIO"]
["TRIO","Intellectual disability","Intellectual Disability","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~601893~-","TRIO"]
["TRIOBP","Deafness, non-syndromic","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 28:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11078[geneid]~-~609761~-","TRIOBP"]
["TRIOBP","Hearing loss, non-syndromic, Autosomal Recessive","Hearing loss","Autosomal Recessive","Deafness, Autosomal Recessive 28:Autosomal Recessive$Deafness:Autosomal Recessive","Deafness:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11078[geneid]~-~609761~-","TRIOBP"]
["TRIP11","Achondrogenesis type 1A","Achondrogenesis, type IA","Autosomal Recessive","Achondrogenesis, type IA:Autosomal Recessive$Achondrogenesis:Autosomal Recessive","Achondrogenesis:Autosomal Recessive","HIGH","-~-~604505~-","TRIP11"]
["TRIP12","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604506~-","TRIP12"]
["TRMT44","Partial epilepsy with pericentral spikes","Epilepsy, Partial, with Pericentral Spikes","Risk",null,null,"HIGH","-~-~614309~-","TRMT44"]
["TRMU","Combined respiratory chain deficiency","Deficiency in enzyme complexes of mitochondrial respiratory chain","Autosomal Recessive","Hepatic failure:Autosomal Recessive","Hepatic failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55687[geneid]~-~610230~-","TRMU"]
["TRMU","Mitochondrial deafness, modifier of","Deafness","Modifier","Hepatic failure:Autosomal Recessive","Hepatic failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55687[geneid]~-~610230~-","TRMU"]
["TRMU","Respiratory chain deficiency, reversible infantile","Hepatic failure;Deficiency in enzyme complexes of mitochondrial respiratory chain","Autosomal Recessive","Hepatic failure:Autosomal Recessive","Hepatic failure:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55687[geneid]~-~610230~-","TRMU"]
["TROAP","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~603872~-","TROAP"]
["TROVE2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600063~-","TROVE2"]
["TRPA1","Episodic pain syndrome","Pain","Autosomal Dominant","Pain:Autosomal Dominant","Pain:Autosomal Dominant","HIGH","-~-~604775~-","TRPA1"]
["TRPC3","Altered methylation","Ataxia","Modifier","Ataxia:Modifier","Ataxia:Modifier","HIGH","-~-~602345~-","TRPC3"]
["TRPC5","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~300334~-","TRPC5"]
["TRPC6","Collapsing glomerulosclerosis","Focal segmental glomerulosclerosis","Autosomal Dominant","Focal Segmental Glomerulosclerosis 2:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7225[geneid]~-~603652~-","TRPC6"]
["TRPC6","Focal segmental glomerulosclerosis","Focal Segmental Glomerulosclerosis 2;Focal segmental glomerulosclerosis","Autosomal Dominant","Focal Segmental Glomerulosclerosis 2:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7225[geneid]~-~603652~-","TRPC6"]
["TRPC6","Nephrotic syndrome, steroid resistant","Steroid-resistant nephrotic syndrome","Autosomal Dominant","Focal Segmental Glomerulosclerosis 2:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7225[geneid]~-~603652~-","TRPC6"]
["TRPC6","Podocytopathy","Kidney Failure, Chronic","Autosomal Dominant","Focal Segmental Glomerulosclerosis 2:Autosomal Dominant$Focal segmental glomerulosclerosis:Autosomal Dominant","Focal segmental glomerulosclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7225[geneid]~-~603652~-","TRPC6"]
["TRPM1","Night blindness","Congenital stationary night blindness","Autosomal Recessive","Night Blindness, Congenital Stationary, Type 1C:Autosomal Recessive$Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~603576~-","TRPM1"]
["TRPM1","Stationary night blindness, Autosomal Dominant congenital","Congenital stationary night blindness","Autosomal Dominant","Night Blindness, Congenital Stationary, Type 1C:Autosomal Recessive$Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~603576~-","TRPM1"]
["TRPM1","Stationary night blindness, congenital","Congenital stationary night blindness","Autosomal Recessive","Night Blindness, Congenital Stationary, Type 1C:Autosomal Recessive$Congenital stationary night blindness:Autosomal Recessive","Congenital stationary night blindness:Autosomal Recessive","HIGH","-~-~603576~-","TRPM1"]
["TRPM2","Amyotrophic lateral sclerosis and parkinson disease","Amyotrophic lateral sclerosis;Parkinson's disease","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","HIGH","-~-~603749~-","TRPM2"]
["TRPM4","Brugada syndrome","Brugada syndrome","Autosomal Dominant","Progressive Familial Heart Block, Type IB:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant","Hereditary bundle branch system defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54795[geneid]~-~606936~-","TRPM4"]
["TRPM4","Cardiac conduction disease, isolated","Conduction disorder of the heart","Autosomal Dominant","Progressive Familial Heart Block, Type IB:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant","Hereditary bundle branch system defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54795[geneid]~-~606936~-","TRPM4"]
["TRPM4","Heart block type 1","Progressive Familial Heart Block, Type IB;Congenital heart block","Autosomal Dominant","Progressive Familial Heart Block, Type IB:Autosomal Dominant$Hereditary bundle branch system defect:Autosomal Dominant","Hereditary bundle branch system defect:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54795[geneid]~-~606936~-","TRPM4"]
["TRPM6","Hypomagnesaemia with secondary hypocalcaemia","Hypomagnesemia 1, Intestinal;Hypomagnesemia","Autosomal Recessive","Hypomagnesemia 1, Intestinal:Autosomal Recessive$Hypomagnesemia:Autosomal Recessive","Hypomagnesemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=140803[geneid]~-~607009~-","TRPM6"]
["TRPM6","Hypomagnesaemia with secondary hypocalcaemia, mental retardation & short stature","Hypomagnesemia 1, Intestinal;Mental retardation;Short stature","Autosomal Recessive","Hypomagnesemia 1, Intestinal:Autosomal Recessive$Hypomagnesemia:Autosomal Recessive","Hypomagnesemia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=140803[geneid]~-~607009~-","TRPM6"]
["TRPM7","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605692~-","TRPM7"]
["TRPS1","Tricho-rhino-phalangeal syndrome","Trichorhinophalangeal dysplasia type I","Autosomal Dominant","Trichorhinophalangeal dysplasia type I:Autosomal Dominant$Trichorhinophalangeal Syndrome, Type III:Autosomal Dominant$Trichorhinophalangeal syndrome:Autosomal Dominant","Trichorhinophalangeal syndrome:Autosomal Dominant","HIGH","-~-~604386~-","TRPS1"]
["TRPS1","Tricho-rhino-phalangeal syndrome I","Trichorhinophalangeal dysplasia type I","Autosomal Dominant","Trichorhinophalangeal dysplasia type I:Autosomal Dominant$Trichorhinophalangeal Syndrome, Type III:Autosomal Dominant$Trichorhinophalangeal syndrome:Autosomal Dominant","Trichorhinophalangeal syndrome:Autosomal Dominant","HIGH","-~-~604386~-","TRPS1"]
["TRPS1","Tricho-rhino-phalangeal syndrome III","Trichorhinophalangeal Syndrome, Type III","Autosomal Dominant","Trichorhinophalangeal dysplasia type I:Autosomal Dominant$Trichorhinophalangeal Syndrome, Type III:Autosomal Dominant$Trichorhinophalangeal syndrome:Autosomal Dominant","Trichorhinophalangeal syndrome:Autosomal Dominant","HIGH","-~-~604386~-","TRPS1"]
["TRPS1","Tricho-rhino-phalangeal syndrome with supernumerary teeth","Trichorhinophalangeal dysplasia type I;Supernumerary permanent teeth","Autosomal Dominant","Trichorhinophalangeal dysplasia type I:Autosomal Dominant$Trichorhinophalangeal Syndrome, Type III:Autosomal Dominant$Trichorhinophalangeal syndrome:Autosomal Dominant","Trichorhinophalangeal syndrome:Autosomal Dominant","HIGH","-~-~604386~-","TRPS1"]
["TRPV1","Increased protein expression","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~602076~-","TRPV1"]
["TRPV3","Hyperinsulinism","Hyperinsulinism","Risk","Olmsted syndrome:Autosomal Dominant","Olmsted syndrome:Autosomal Dominant","HIGH","-~-~607066~-","TRPV3"]
["TRPV3","Olmsted syndrome","Olmsted syndrome","Autosomal Dominant","Olmsted syndrome:Autosomal Dominant","Olmsted syndrome:Autosomal Dominant","HIGH","-~-~607066~-","TRPV3"]
["TRPV4","Brachyolmia, Autosomal Dominant","Brachyrachia (short spine dysplasia)","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Charcot-Marie-Tooth disease 2","Charcot-Marie-Tooth disease, dominant intermediate 2","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Charcot-Marie-Tooth disease 2C","Charcot-Marie-Tooth disease, Type 2C","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Charcot-Marie-Tooth disease, axonal","Charcot-Marie-Tooth disease, Type 2C","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Digital arthropathy-brachydactyly","Digital Arthropathy-Brachydactyly, Familial","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Distal spinal muscular atrophy","Distal spinal muscular atrophy","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Metatropic dysplasia","Metatrophic dysplasia","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Motor neuropathy, distal hereditary","Neuropathy, Distal Hereditary Motor","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Parastremmatic dwarfism","Parastremmatic dwarfism","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Scapuloperoneal spinal muscular atrophy","Scapuloperoneal spinal muscular atrophy","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Skeletal dysplasia & peripheral neuropathy","Congenital skeletal dysplasia;Peripheral nerve disease","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Spondyloepiphyseal dysplasia, Maroteaux type","Brachyolmia - Maroteaux type","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Spondylometaphyseal dysplasia, Kozlowski type","Spondylometaphyseal dysplasia - Kozlowski type","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV4","Spondylometaphyseal dysplasia, Kozlowski type / brachyolmia","Spondylometaphyseal dysplasia - Kozlowski type;Brachyolmia","Autosomal Dominant","Brachyrachia (short spine dysplasia):Autosomal Dominant$Brachyolmia Type 3:Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Hereditary Motor And Sensory Neuropathy, Type IIC:Autosomal Dominant$Charcot-Marie-Tooth disease, Type 2C:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","Brachyrachia (short spine dysplasia):Autosomal Dominant$Digital Arthropathy-Brachydactyly, Familial:Autosomal Dominant$Charcot-Marie-Tooth disease:Autosomal Dominant$Metatropic dysplasia:Autosomal Dominant$Parastremmatic dwarfism:Autosomal Dominant$Brachyolmia - Maroteaux type:Autosomal Dominant$Scapuloperoneal spinal muscular atrophy:Autosomal Dominant$Spinal Muscular Atrophy, Distal, Congenital Nonprogressive:Autosomal Dominant$Spondylometaphyseal dysplasia - Kozlowski type:Autosomal Dominant$Serum sodium level:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=59341[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~605427~-","TRPV4"]
["TRPV5","Increased calcium influx","NULL","Autosomal Dominant","NULL","NULL","HIGH","-~-~606679~-","TRPV5"]
["TRRAP","Autism","Autistic Disorder","Risk","NULL","NULL","HIGH","-~-~603015~-","TRRAP"]
["TRRAP","Melanoma","NULL","Not listed in HGMD; Listed in OMIM 603015; PMID 21499247","NULL","NULL","HIGH","-~-~603015~-","TRRAP"]
["TRRAP","Schizophrenia","Schizophrenia","Risk",null,null,"HIGH","-~-~603015~-","TRRAP"]
["TSC1","Focal cortical dysplasia of Taylor","Focal cortical dysplasia of Taylor","Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7248[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~605284~-","TSC1"]
["TSC1","Lymphangioleiomyomatosis","Lymphangiomyomatosis","Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7248[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~605284~-","TSC1"]
["TSC1","Periungual fibroma","Periungual fibroma","Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7248[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~605284~-","TSC1"]
["TSC1","Tuberous sclerosis","Tuberous sclerosis","Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Focal cortical dysplasia of Taylor:Autosomal Dominant$Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7248[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~605284~-","TSC1"]
["TSC2","Angiolipoma","Angiolipoma","Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~191092~-","TSC2"]
["TSC2","Autism","Autistic Disorder","Risk","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~191092~-","TSC2"]
["TSC2","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~191092~-","TSC2"]
["TSC2","Intellectual disability","Intellectual Disability","Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~191092~-","TSC2"]
["TSC2","Lymphangiokiomyomatosis","Lymphangiomyomatosis","Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~191092~-","TSC2"]
["TSC2","Tuberous sclerosis","Tuberous sclerosis","Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~191092~-","TSC2"]
["TSC2","Tuberous sclerosis and lymphangiomyomatosis","Tuberous sclerosis;Lymphangiomyomatosis","Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","Lymphangiomyomatosis:Autosomal Dominant$Tuberous sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7249[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1220~191092~-","TSC2"]
["TSEN2","Pontocerebellar hypoplasia","Pontocerebellar Hypoplasia Type 2B","Autosomal Recessive","Pontocerebellar Hypoplasia Type 2B:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9673~608753~-","TSEN2"]
["TSEN2","Pontocerebellar hypoplasia 2","Pontocerebellar Hypoplasia Type 2","Autosomal Recessive","Pontocerebellar Hypoplasia Type 2B:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80746[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9673~608753~-","TSEN2"]
["TSEN34","Pontocerebellar hypoplasia","Pontocerebellar Hypoplasia Type 2C","Autosomal Recessive","Pontocerebellar Hypoplasia Type 2C:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79042[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9673~608754~-","TSEN34"]
["TSEN54","Pontocerebellar hypoplasia","Pontocerebellar Hypoplasia Type 2A;Pontoneocerebellar hypoplasia","Autosomal Recessive","Pontocerebellar Hypoplasia Type 2A:Autosomal Recessive$Young McKeever Squier syndrome:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283989[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9673~608755~-","TSEN54"]
["TSEN54","Pontocerebellar hypoplasia 2","Pontocerebellar Hypoplasia Type 2","Autosomal Recessive","Pontocerebellar Hypoplasia Type 2A:Autosomal Recessive$Young McKeever Squier syndrome:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283989[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9673~608755~-","TSEN54"]
["TSEN54","Pontocerebellar hypoplasia 4","Young McKeever Squier syndrome","Autosomal Recessive","Pontocerebellar Hypoplasia Type 2A:Autosomal Recessive$Young McKeever Squier syndrome:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283989[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9673~608755~-","TSEN54"]
["TSEN54","Pontocerebellar hypoplasia 5","Olivopontocerebellar hypoplasia, fetal-onset","Autosomal Recessive","Pontocerebellar Hypoplasia Type 2A:Autosomal Recessive$Young McKeever Squier syndrome:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=283989[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9673~608755~-","TSEN54"]
["TSFM","Combined oxidative phosphorylation deficiency 3","Combined Oxidative Phosphorylation Deficiency 3","Autosomal Recessive","Combined Oxidative Phosphorylation Deficiency 3:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10102[geneid]~-~604723~-","TSFM"]
["TSGA14","Autism spectrum disorder","Autistic Disorder","Autosomal Dominant","Joubert syndrome 15:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=95681[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610523~-","CEP41"]
["TSGA14","Joubert syndrome","Joubert syndrome 15;Familial aplasia of the vermis","Autosomal Recessive","Joubert syndrome 15:Autosomal Recessive$Familial aplasia of the vermis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=95681[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~610523~-","CEP41"]
["TSHB","Hypothyroidism","Congenital hypothyroidism without goitre","Autosomal Recessive","Hypothryoidism, congenital, nongoitrous 4:Autosomal Recessive$Secondary hypothyroidism:Autosomal Recessive","Secondary hypothyroidism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7252[geneid]~-~188540~-","TSHB"]
["TSHB","Thyroid-stimulating hormone deficiency","Secondary hypothyroidism","Autosomal Recessive","Hypothryoidism, congenital, nongoitrous 4:Autosomal Recessive$Secondary hypothyroidism:Autosomal Recessive","Secondary hypothyroidism:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7252[geneid]~-~188540~-","TSHB"]
["TSHR","Hyperfunctioning thyroid nodules","Toxic multinodular goiter","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hyperthyroidism","Hyperthyroidism","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hyperthyroidism, gestational","Hyperthyroidism, Familial Gestational","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hyperthyroidism, nonautoimmune","Hyperthyroidism, Nonautoimmune","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hyperthyroidism, nongoitrous & nonautoimmune","Congenital hypothyroidism without goitre;Hyperthyroidism, Nonautoimmune","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hyperthyrotropinaemia","Hyperthyroxinemia","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hyperthyrotropinaemia, nonautoimmune isolated","Hyperthyroxinemia","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hyperthyrotropinemia","Hyperthyroxinemia","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Hypothyroidism","Hypothyroidism","Autosomal Recessive","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Thyroid hyperplasia","Thyroid hyperplasia","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Thyroid hypoplasia","Hypoplasia of thyroid","Autosomal Recessive","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Thyroid-stimulating hormone resistance","Thyroid hormone responsiveness defect","Autosomal Recessive","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Thyroid-stimulating hormone resistance, nonclassic","Thyroid hormone responsiveness defect","Autosomal Recessive","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHR","Thyrotoxicosis","Thyrotoxicosis","Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","Hyperthyroidism, Familial Gestational:Autosomal Dominant$Hyperthyroidism, Nonautoimmune:Autosomal Dominant$Congenital hypothyroidism without goitre:Autosomal Recessive$Thyroid Adenoma, Hyperfunctioning:Autosomal Dominant$Thyroid Carcinoma With Thyrotoxicosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7253[geneid]~-~603372~-","TSHR"]
["TSHZ1","Aural atresia, congenital","Aural Atresia, Congenital","Autosomal Dominant","Aural Atresia, Congenital:Autosomal Dominant","Aural Atresia, Congenital:Autosomal Dominant","HIGH","-~-~614427~-","TSHZ1"]
["TSPAN12","Exudative vitreoretinopathy","Exudative Vitreoretinopathy 5;Familial exudative vitreoretinopathy","Autosomal Dominant","Exudative vitreoretinopathy 5:Autosomal Dominant$Familial exudative vitreoretinopathy:Autosomal Dominant","Familial exudative vitreoretinopathy:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1147~613138~-","TSPAN12"]
["TSPAN17","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26262[geneid]~-~-~-","TSPAN17"]
["TSPAN7","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked 58:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7102[geneid]~-~300096~-","TSPAN7"]
["TSPO","Increased pregnenolone levels","Dyslipidemia","Autosomal Dominant",null,null,"HIGH","-~-~109610~-","TSPO"]
["TSPYL1","Anomalies of testicular function/development","46, XY Disorders of Sex Development;Male infertility","Autosomal Dominant","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","HIGH","-~-~604714~-","TSPYL1"]
["TSPYL1","Azoospermia","Azoospermia","Autosomal Dominant","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","HIGH","-~-~604714~-","TSPYL1"]
["TSPYL1","Oligoasthenoteratozoospermia syndrome","Oligoasthenoteratozoospermia syndrome","Autosomal Dominant","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","HIGH","-~-~604714~-","TSPYL1"]
["TSPYL1","Sudden infant death with dysgenesis of the testes","Sudden Infant Death with Dysgenesis of the Testes Syndrome","Autosomal Recessive","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","Sudden Infant Death with Dysgenesis of the Testes Syndrome:Autosomal Recessive","HIGH","-~-~604714~-","TSPYL1"]
["TST","Reduced function","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~180370~-","TST"]
["TTBK2","Spinocerebellar ataxia, type 11","Spinocerebellar Ataxia 11","Autosomal Dominant","Spinocerebellar Ataxia 11:Autosomal Dominant$Spinocerebellar ataxia:Autosomal Dominant","Spinocerebellar ataxia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=146057[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1757~611695~-","TTBK2"]
["TTC19","Mitochondrial complex III deficiency","Mitochondrial Complex III Deficiency","Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=54902[geneid]~-~613814~-","TTC19"]
["TTC21B","Bardet-Biedl syndrome","Bardet-Biedl syndrome","Autosomal Dominant","Asphyxiating thoracic dystrophy 4:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79809[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612014~-","TTC21B"]
["TTC21B","Jeune asphyxiating thoracic dystrophy","Asphyxiating thoracic dystrophy 4;Jeune thoracic dystrophy","Autosomal Recessive","Asphyxiating thoracic dystrophy 4:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79809[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612014~-","TTC21B"]
["TTC21B","Joubert syndrome","Familial aplasia of the vermis","Autosomal Dominant","Asphyxiating thoracic dystrophy 4:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79809[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612014~-","TTC21B"]
["TTC21B","Meckel-Gruber syndrome","Meckel-Gruber syndrome","Autosomal Dominant","Asphyxiating thoracic dystrophy 4:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79809[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612014~-","TTC21B"]
["TTC21B","Meckel-Gruber-like syndrome","Meckel-Gruber syndrome","Autosomal Dominant","Asphyxiating thoracic dystrophy 4:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79809[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612014~-","TTC21B"]
["TTC21B","Nephronophthisis","Nephronophthisis","Autosomal Recessive","Asphyxiating thoracic dystrophy 4:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79809[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1325~612014~-","TTC21B"]
["TTC37","Trichohepatoenteric syndrome","Trichohepatoenteric Syndrome","Autosomal Recessive","Trichohepatoenteric Syndrome:Autosomal Recessive","Trichohepatoenteric Syndrome:Autosomal Recessive","HIGH","-~-~614589~-","TTC37"]
["TTC7A","Immunodeficiency, combined, with intestinal atresias","Multiple gastrointestinal atresias;Immunideficiency","Autosomal Recessive","Multiple gastrointestinal atresias:Autosomal Recessive","Multiple gastrointestinal atresias:Autosomal Recessive","HIGH","-~-~609332~-","TTC7A"]
["TTC7A","Multiple intestinal atresia","Multiple gastrointestinal atresias","Autosomal Recessive","Multiple gastrointestinal atresias:Autosomal Recessive","Multiple gastrointestinal atresias:Autosomal Recessive","HIGH","-~-~609332~-","TTC7A"]
["TTC8","Bardet-Biedl syndrome","Bardet-Biedl Syndrome 8;Bardet-Biedl syndrome","Autosomal Recessive","Bardet-Biedl Syndrome 8:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123016[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1417~608132~-","TTC8"]
["TTC8","Retinitis pigmentosa 51","Retinitis pigmentosa 51","Autosomal Recessive","Bardet-Biedl Syndrome 8:Autosomal Recessive$Bardet-Biedl syndrome:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Bardet-Biedl syndrome:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=123016[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1363$http://www.ncbi.nlm.nih.gov/books/NBK1417~608132~-","TTC8"]
["TTF2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604718~-","TTF2"]
["TTN","Arrhythmogenic right ventricular cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTN","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1G;Dilated cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTN","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 9;Hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTN","Muscular dystrophy","Muscular Dystrophy, Limb-Girdle, Type 2J;Limb-girdle muscular dystrophy","Autosomal Recessive","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTN","Myopathy","Myopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTN","Myopathy with cellular aggregates","Myopathy, Early-Onset, with Fatal Cardiomyopathy;Myopathy","Autosomal Recessive","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTN","Myopathy with early respiratory failure","Hereditary Myopathy with Early Respiratory Failure","Autosomal Dominant","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTN","Tibial muscular dystrophy","Muscular Dystrophy, Tibial","Autosomal Dominant","Cardiomyopathy, Dilated, 1G:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 9:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Muscular Dystrophy, Limb-Girdle, Type 2J:Autosomal Recessive$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Muscular Dystrophy, Tibial:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant$Limb-girdle muscular dystrophy:Autosomal Recessive$Myopathy, Early-Onset, with Fatal Cardiomyopathy:Autosomal Recessive$Hereditary Myopathy with Early Respiratory Failure:Autosomal Dominant$Distal Myopathy Markesbery Griggs Type:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7273[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309$http://www.ncbi.nlm.nih.gov/books/NBK1323$http://www.ncbi.nlm.nih.gov/books/NBK83297$http://www.ncbi.nlm.nih.gov/books/NBK1768~188840~-","TTN"]
["TTPA","Alpha-tocopherol transfer protein deficiency","Ataxia with vitamin E deficiency","Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7274[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1241~600415~-","TTPA"]
["TTPA","Ataxia with vitamin E deficiency","Ataxia with vitamin E deficiency","Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7274[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1241~600415~-","TTPA"]
["TTPA","Ataxia, isolated vitamin E deficiency","Ataxia with vitamin E deficiency","Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7274[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1241~600415~-","TTPA"]
["TTPA","Ataxia, isolated vitamin E deficiency & retinitis pigmentosa","Ataxia with vitamin E deficiency;Retinitis pigmentosa","Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7274[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1241~600415~-","TTPA"]
["TTPA","Spinocerebral dysfunction","Spinocerebellar disease","Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","Ataxia with vitamin E deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7274[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1241~600415~-","TTPA"]
["TTR","Amyloidosis","Amyloidosis, Hereditary, Transthyretin-Related;Amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidosis, cardiac","Senile cardiac amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidosis, cardiac, late-onset","Senile cardiac amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidosis, meningocerebrovascular","Cerebrovascular amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidosis, modifier of","Amyloidosis","Modifier","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidosis, oculoleptomeningeal","Hereditary oculoleptomeningeal amyloid angiopathy","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidosis, transthyretin","Senile cardiac amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidotic polyneuropathy","Polyneuropathy in amyloidosis","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Amyloidotic vitreous opacities","Vitreous opacities","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Cardiomyopathy","Cardiomyopathy","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Cardiomyopathy & late-onset polyneuropathy of lower limbs","Cardiomyopathy","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Carpal tunnel syndrome","Carpal tunnel syndrome","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TTR","Euthyroid hyperthyroxinaemia","Dystransthyretinemic Euthyroidal Hyperthyroxinemia","Autosomal Dominant","Amyloidosis:Autosomal Dominant$Amyloidosis, Hereditary, Transthyretin-Related:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","Amyloidosis:Autosomal Dominant$Carpal tunnel syndrome:Autosomal Dominant$Dystransthyretinemic Euthyroidal Hyperthyroxinemia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7276[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1194~176300~-","TTR"]
["TUBA1A","Autism","Autistic Disorder","Risk","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA1A","Intellectual disability","Intellectual Disability","Risk","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA1A","Lissencephaly","Lissencephaly 3;Lissencephaly","Autosomal Dominant","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA1A","Lissencephaly with cerebellar hypoplasia","Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia","Autosomal Dominant","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA1A","Lissencephaly with Hirschsprung disease","Lissencephaly;Hirschsprung disease","Autosomal Dominant","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA1A","Polymicrogyria","Microgyria","Autosomal Dominant","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA1A","Polymicrogyria-like","Microgyria","Autosomal Dominant","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA1A","Polymicrogyria-like, diffuse","Microgyria","Autosomal Dominant","Lissencephaly 3:Autosomal Dominant$Lissencephaly:Autosomal Dominant","Lissencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7846[geneid]~-~602529~-","TUBA1A"]
["TUBA8","Polymicrogyria with optic nerve hypoplasia","Polymicrogyria With Optic Nerve Hypoplasia;Microgyria;Hypoplasia of the optic nerve","Autosomal Recessive","Polymicrogyria With Optic Nerve Hypoplasia:Autosomal Recessive$Microgyria:Autosomal Recessive","Polymicrogyria With Optic Nerve Hypoplasia:Autosomal Recessive$Microgyria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51807[geneid]~-~605742~-","TUBA8"]
["TUBB1","Macrothrombocytopaenia","Macrothrombocytopenia","Autosomal Dominant","Macrothrombocytopenia:Autosomal Dominant","Macrothrombocytopenia:Autosomal Dominant","HIGH","-~-~612901~-","TUBB1"]
["TUBB2B","Agyria","Agyria","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB2B","Congenital fibrosis of the extraocular muscles with polymicrogyria","Congenital fibrosis of extraocular muscles;Microgyria","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB2B","Microcephaly, corpus callosum agenesis, schizencephaly, polymicrogyria, and vermis & right third nerve hypoplasia","Microcephalus;Agenesis of corpus callosum;Schizencephaly;Microgyria","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB2B","Pachygyria, bilateral regional","Macrogyria","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB2B","Polymicrogyria, asymmetrical","Microgyria","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB2B","Polymicrogyria, diffuse","Microgyria","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB2B","Polymicrogyria-like, diffuse","Microgyria","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB2B","Polymicrogyria-like, perisylvian","Perisylvian syndrome","Autosomal Dominant","Microgyria:Autosomal Dominant","Microgyria:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347733[geneid]~-~612850~-","TUBB2B"]
["TUBB3","Congenital fibrosis of the extraocular muscles 3","Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement","Autosomal Dominant","Cortical dysplasia:Autosomal Dominant$Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement:Autosomal Dominant","Cortical dysplasia:Autosomal Dominant$Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1348~602661~-","TUBB3"]
["TUBB3","Cortical development malformations and neuronal migration defects","Cortical dysplasia","Autosomal Dominant","Cortical dysplasia:Autosomal Dominant$Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement:Autosomal Dominant","Cortical dysplasia:Autosomal Dominant$Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10381[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1348~602661~-","TUBB3"]
["TUBB4A","Dystonia 4","Dystonia musculorum deformans 4","Autosomal Dominant","Dystonia musculorum deformans 4:Autosomal Dominant$Dystonia:Autosomal Dominant$Leukodystrophy, Hypomyelinating, 6:Autosomal Dominant","Dystonia:Autosomal Dominant$Leukodystrophy, Hypomyelinating, 6:Autosomal Dominant","HIGH","-~-~602662~-","TUBB4A"]
["TUBB4A","Hypomyelination with atrophy of the basal ganglia and cerebellum","Leukodystrophy, Hypomyelinating, 6","Autosomal Dominant","Dystonia musculorum deformans 4:Autosomal Dominant$Dystonia:Autosomal Dominant$Leukodystrophy, Hypomyelinating, 6:Autosomal Dominant","Dystonia:Autosomal Dominant$Leukodystrophy, Hypomyelinating, 6:Autosomal Dominant","HIGH","-~-~602662~-","TUBB4A"]
["TUBG1","Malformations of cortical development","Cortical Development Malformation","Autosomal Dominant","Cortical dysplasia:Autosomal Dominant","Cortical dysplasia:Autosomal Dominant","HIGH","-~-~191135~-","TUBG1"]
["TUBGCP4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~609610~-","TUBGCP4"]
["TUBGCP5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608147~-","TUBGCP5"]
["TUFM","Combined oxidative phosphorylation deficiency","Combined Oxidative Phosphorylation Deficiency 4","Autosomal Recessive","Combined Oxidative Phosphorylation Deficiency 4:Autosomal Recessive$Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","Deficiency in enzyme complexes of mitochondrial respiratory chain:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7287[geneid]~-~602280~-","TUFM"]
["TULP1","Cone dysfunction","Cone dystrophy","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Leber congenital amaurosis 15:Autosomal Recessive$Retinitis Pigmentosa 14:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602280~-","TULP1"]
["TULP1","Leber congenital amaurosis","Leber congenital amaurosis 15;Leber's amaurosis","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Leber congenital amaurosis 15:Autosomal Recessive$Retinitis Pigmentosa 14:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602280~-","TULP1"]
["TULP1","Leber congenital amaurosis/Retinal degeneration","Leber's amaurosis;Degeneration of retina","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Leber congenital amaurosis 15:Autosomal Recessive$Retinitis Pigmentosa 14:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602280~-","TULP1"]
["TULP1","Retinitis pigmentosa","Retinitis Pigmentosa 14;Retinitis pigmentosa","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Leber congenital amaurosis 15:Autosomal Recessive$Retinitis Pigmentosa 14:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602280~-","TULP1"]
["TULP1","Retinitis pigmentosa, early-onset","Retinitis Pigmentosa 14;Retinitis pigmentosa","Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Leber congenital amaurosis 15:Autosomal Recessive$Retinitis Pigmentosa 14:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","Leber's amaurosis:Autosomal Recessive$Retinitis pigmentosa:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7287[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1298~602280~-","TULP1"]
["TUSC3","Intellectual disability & autism","Intellectual Disability;Autistic Disorder","Risk","Mental Retardation, Autosomal Recessive 7:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7991[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~601385~-","TUSC3"]
["TUSC3","Mental retardation, non-syndromic, Autosomal Recessive","Mental retardation","Autosomal Recessive","Mental Retardation, Autosomal Recessive 7:Autosomal Recessive$Mental retardation:Autosomal Recessive","Mental retardation:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7991[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1332~601385~-","TUSC3"]
["TWIST1","Baller-Gerold syndrome","Baller-Gerold syndrome","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1189~601622~-","TWIST1"]
["TWIST1","Brachicephaly","Craniosynostosis syndrome","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1189~601622~-","TWIST1"]
["TWIST1","Craniosynostosis","Craniosynostosis syndrome","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1189~601622~-","TWIST1"]
["TWIST1","Plagiocephaly","Plagiocephaly","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1189~601622~-","TWIST1"]
["TWIST1","Robinow-Sorauf syndrome","Robinow Sorauf syndrome","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1189~601622~-","TWIST1"]
["TWIST1","Saethre-Chotzen syndrome","Saethre-Chotzen syndrome","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1189~601622~-","TWIST1"]
["TWIST1","Synostotic frontal plagiocephaly","Plagiocephaly","Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","Craniosynostosis syndrome:Autosomal Dominant$Robinow Sorauf syndrome:Autosomal Dominant$Saethre-Chotzen syndrome:Autosomal Dominant$Saethre-Chotzen Syndrome with Eyelid Anomalies:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7291[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1189~601622~-","TWIST1"]
["TWIST2","Setleis syndrome","Congenital ectodermal dysplasia of face","Autosomal Recessive","Congenital ectodermal dysplasia of face:Autosomal Recessive","Congenital ectodermal dysplasia of face:Autosomal Recessive","HIGH","-~-~607556~-","TWIST2"]
["TXLNB","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611438~-","TXLNB"]
["TXNDC3","Ciliary dyskinesia, primary","Ciliary Dyskinesia, Primary, 6;Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 6:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51314[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~607421~-","NME8"]
["TXNDC3","Reduced expression of d7 isoform","Ciliary Dyskinesia, Primary, 6;Immotile cilia syndrome","Autosomal Recessive","Ciliary Dyskinesia, Primary, 6:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51314[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1122~607421~-","NME8"]
["TXNRD2","Cardiomyopathy, dilated","Dilated cardiomyopathy","Autosomal Dominant","Ciliary Dyskinesia, Primary, 6:Autosomal Recessive$Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10587[geneid]~-~606448~-","TXNRD2"]
["TYK2","Autism spectrum disorder","Autistic Disorder","Risk","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","HIGH","-~-~176941~-","TYK2"]
["TYK2","Cancer, predisposition to","Malignant neoplastic disease","Risk","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","HIGH","-~-~176941~-","TYK2"]
["TYK2","Hyper-IgE syndrome","Hyper IgE Syndrome, Autosomal Recessive","Autosomal Recessive","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","HIGH","-~-~176941~-","TYK2"]
["TYK2","Multiple sclerosis, susceptibility to","Multiple sclerosis","Risk","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","HIGH","-~-~176941~-","TYK2"]
["TYK2","Tyrosine kinase deficiency","Tyrosine Kinase 2 Deficiency","Autosomal Recessive","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","Tyrosine Kinase 2 Deficiency:Autosomal Recessive","HIGH","-~-~176941~-","TYK2"]
["TYMP","Mitochondrial neurogastrointestinal encephalopathy","Mitochondrial neurogastrointestinal encephalopathy syndrome","Autosomal Recessive","Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1890[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1179~131222~-","TYMP"]
["TYMP","Peripheral neuropathy with intestinal pseudo-occlusion","Peripheral nerve disease;Pseudo-obstruction of intestine","Autosomal Recessive","Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","Mitochondrial neurogastrointestinal encephalopathy syndrome:Autosomal Recessive$Depletion of mitochondrial DNA:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1890[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1179~131222~-","TYMP"]
["TYR","Albinism, oculocutaneous","Oculocutaneous albinism","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Tyrosinase-negative oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 1B:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","Oculocutaneous albinism:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1166~606933~-","TYR"]
["TYR","Albinism, oculocutaneous 1","Tyrosinase-negative oculocutaneous albinism","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Tyrosinase-negative oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 1B:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","Oculocutaneous albinism:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1166~606933~-","TYR"]
["TYR","Albinism, oculocutaneous 1A","Tyrosinase-negative oculocutaneous albinism","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Tyrosinase-negative oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 1B:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","Oculocutaneous albinism:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1166~606933~-","TYR"]
["TYR","Albinism, oculocutaneous 1B","Oculocutaneous albinism type 1B","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Tyrosinase-negative oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 1B:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","Oculocutaneous albinism:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1166~606933~-","TYR"]
["TYR","Tyrosinase deficiency","Deficiency of catechol oxidase","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Tyrosinase-negative oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 1B:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","Oculocutaneous albinism:Autosomal Recessive$Waardenburg syndrome type 2:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 3:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7299[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1166~606933~-","TYR"]
["TYROBP","Nasu-Hakola disease","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy","Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1197~604142~-","TYROBP"]
["TYRP1","Albinism, oculocutaneous","Oculocutaneous albinism","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 3:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7306[geneid]~-~115501~-","TYRP1"]
["TYRP1","Albinism, oculocutaneous 3","Oculocutaneous albinism type 3","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 3:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7306[geneid]~-~115501~-","TYRP1"]
["TYRP1","Albinism, oculocutaneous 3","Rufous oculocutaneous albinism","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 3:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7306[geneid]~-~115501~-","TYRP1"]
["TYRP1","Melanesian blond hair","Skin/Hair/Eye Pigmentation, Variation In, 11","Autosomal Recessive","Oculocutaneous albinism:Autosomal Recessive$Oculocutaneous albinism type 3:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","Oculocutaneous albinism:Autosomal Recessive$Skin/Hair/Eye Pigmentation, Variation In, 11:Modifier","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7306[geneid]~-~115501~-","TYRP1"]
["UBA1","Spinal muscular atrophy, X-linked","Arthrogryposis multiplex congenita, distal, X-linked","X-linked Recessive","Arthrogryposis multiplex congenita, distal, X-linked:X-linked Recessive$Arthrogryposis:X-linked Recessive","Arthrogryposis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7317[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2594~314370~-","UBA1"]
["UBA1","Spinal muscular atrophy, X-linked infantile","Arthrogryposis multiplex congenita, distal, X-linked","X-linked Recessive","Arthrogryposis multiplex congenita, distal, X-linked:X-linked Recessive$Arthrogryposis:X-linked Recessive","Arthrogryposis:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7317[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK2594~314370~-","UBA1"]
["UBA3","Altered p53 binding","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~603172~-","UBA3"]
["UBA3","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~603172~-","UBA3"]
["UBA7","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~191325~-","UBA7"]
["UBAP2","Colorectal cancer","Colorectal Cancer","Risk",null,null,null,"-~-~-~-","UBAP2"]
["UBE2A","Intellectual disability, X-linked","Intellectual Disability","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7319[geneid]~-~312180~-","UBE2A"]
["UBE2A","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7319[geneid]~-~312180~-","UBE2A"]
["UBE2B","Azoospermia","Azoospermia","Risk","Male infertility:Risk","Male infertility:Risk","HIGH","-~-~179095~-","UBE2B"]
["UBE2B","Congenital heart disease","Congenital heart disease","Risk","Male infertility:Risk","Male infertility:Risk","HIGH","-~-~179095~-","UBE2B"]
["UBE2T","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~610538~-","UBE2T"]
["UBE3A","Angelman syndrome","Angelman syndrome","Autosomal Dominant","Angelman syndrome:Autosomal Dominant","Angelman syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7337[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1144~601623~-","UBE3A"]
["UBE3B","Autism","Autistic Disorder","Risk","Blepharophimosis-ptosis-intellectual disability syndrome:Autosomal Recessive","Blepharophimosis-ptosis-intellectual disability syndrome:Autosomal Recessive","HIGH","-~-~608047~-","UBE3B"]
["UBE3B","Blepharophimosis-ptosis-intellectual-disability syndrome","Blepharophimosis;Prolapse;Intellectual Disability","Autosomal Recessive","Blepharophimosis-ptosis-intellectual disability syndrome:Autosomal Recessive","Blepharophimosis-ptosis-intellectual disability syndrome:Autosomal Recessive","HIGH","-~-~608047~-","UBE3B"]
["UBE3C","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~614454~-","UBE3C"]
["UBIAD1","Central discoid corneal dystrophy","Crystalline corneal dystrophy","Autosomal Dominant","Crystalline corneal dystrophy:Autosomal Dominant","Crystalline corneal dystrophy:Autosomal Dominant","HIGH","-~-~611632~-","UBIAD1"]
["UBIAD1","Schnyder crystalline corneal dystrophy","Crystalline corneal dystrophy","Autosomal Dominant","Crystalline corneal dystrophy:Autosomal Dominant","Crystalline corneal dystrophy:Autosomal Dominant","HIGH","-~-~611632~-","UBIAD1"]
["UBN2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613841~-","UBN2"]
["UBQLN1","Brown-Vialetto-Van Laere syndrome","Progressive bulbar palsy","Autosomal Dominant",null,null,"HIGH","-~-~605046~-","UBQLN1"]
["UBQLN2","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia;Amyotrophic lateral sclerosis","X-linked Dominant","Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29978[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~300264~-","UBQLN2"]
["UBQLN2","Frontotemporal dementia","Frontotemporal dementia","X-linked Dominant","Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29978[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~300264~-","UBQLN2"]
["UBQLN2","Frontotemporal lobar degeneration","Frontotemporal Lobar Degeneration","Risk","Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=29978[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~300264~-","UBQLN2"]
["UBR1","Johanson-Blizzard syndrome","Johanson-Blizzard syndrome","Autosomal Recessive","Johanson-Blizzard syndrome:Autosomal Recessive","Johanson-Blizzard syndrome:Autosomal Recessive","HIGH","-~-~605981~-","UBR1"]
["UBR3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~613831~-","UBR3"]
["UBR5","Adult myoclonic epilepsy, familial","Familial Progressive Myoclonic Epilepsy","Autosomal Dominant",null,null,"HIGH","-~-~608413~-","UBR5"]
["UBR7","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~613816~-","UBR7"]
["UCHL1","Neurodegeneration with optic atrophy, childhood onset","Neurodegeneration;Optic atrophy","Autosomal Recessive","Neurodegeneration:Autosomal Recessive$Neurodegeneration with optic atrophy, childhood onset:Autosomal Recessive$Parkinson Disease 5:Risk$Parkinson's disease:Risk","Neurodegeneration:Autosomal Recessive$Neurodegeneration with optic atrophy, childhood onset:Autosomal Recessive$Parkinson's disease:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~191342~-","UCHL1"]
["UCHL1","Neurodegeneration, progressive early-onset","Neurodegeneration","Autosomal Recessive","Neurodegeneration:Autosomal Recessive$Neurodegeneration with optic atrophy, childhood onset:Autosomal Recessive$Parkinson Disease 5:Risk$Parkinson's disease:Risk","Neurodegeneration:Autosomal Recessive$Neurodegeneration with optic atrophy, childhood onset:Autosomal Recessive$Parkinson's disease:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~191342~-","UCHL1"]
["UCHL1","Parkinson disease","Parkinson Disease 5","Autosomal Dominant","Neurodegeneration:Autosomal Recessive$Neurodegeneration with optic atrophy, childhood onset:Autosomal Recessive$Parkinson Disease 5:Risk$Parkinson's disease:Risk","Neurodegeneration:Autosomal Recessive$Neurodegeneration with optic atrophy, childhood onset:Autosomal Recessive$Parkinson's disease:Risk","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~191342~-","UCHL1"]
["UCMA","Altered transcriptional activity","Osteitis Deformans","Risk",null,null,null,"-~-~-~-","UCMA"]
["UCP1","Obesity","Obesity","Risk","Obesity:Risk","Obesity:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7350[geneid]~-~113730~-","UCP1"]
["UCP2","Enhanced metabolic efficiency","Energy expenditure, high","Autosomal Recessive","Obesity:Risk","Obesity:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~601693~-","UCP2"]
["UCP2","Hyperinsulinism","Hyperinsulinism","Autosomal Dominant","Obesity:Risk","Obesity:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7351[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1375~601693~-","UCP2"]
["UCP3","Increased concentration of fatty acylcarnitines in plasma","Metabolic disease","Risk","Obesity:Risk","Obesity:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7352[geneid]~-~602044~-","UCP3"]
["UCP3","Obesity, severe, early-onset","Obesity","Risk","Obesity:Risk","Obesity:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7352[geneid]~-~602044~-","UCP3"]
["UCP3","Obesity, severe, with diabetes","Obesity","Risk","Obesity:Risk","Obesity:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7352[geneid]~-~602044~-","UCP3"]
["UCRP","Retinitis pigmentosa, nonsyndromic","NULL","Autosomal Recessive (NO RECORD FOR THIS GENE IN HGMD or OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=CLRN1[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~147571~-","ISG15"]
["UCRP","Usher syndrome 1","NULL","Autosomal Recessive (NO RECORD FOR THIS GENE IN HGMD or OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=CLRN1[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~147571~-","ISG15"]
["UCRP","Usher syndrome 1d","NULL","Autosomal Recessive (NO RECORD FOR THIS GENE IN HGMD or OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=CLRN1[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~147571~-","ISG15"]
["UCRP","Usher syndrome 3","NULL","Autosomal Recessive (NO RECORD FOR THIS GENE IN HGMD or OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=CLRN1[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~147571~-","ISG15"]
["UCRP","Usher syndrome 3a","NULL","Autosomal Recessive (NO RECORD FOR THIS GENE IN HGMD or OMIM)","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=CLRN1[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~147571~-","ISG15"]
["UGDH","Heart valve defect","Heart valve disorder","Risk",null,null,"HIGH","-~-~603370~-","UGDH"]
["UGT1A1","Crigler-Najjar syndrome","Crigler-Najjar syndrome","Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Crigler-Najjar syndrome 1","Crigler-Najjar syndrome, type I","Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Crigler-Najjar syndrome 2","Crigler-Najjar syndrome, type II","Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Gilbert syndrome","Gilbert's syndrome","Autosomal Dominant","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Gilbert syndrome","Gilbert's syndrome","Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Hyperbilirubinaemia, unconjugated","Unconjugated hyperbilirubinemia","Autosomal Dominant","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Lucey-Driscoll syndrome","Lucey-Driscoll syndrome","Autosomal Dominant","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Lucey-Driscoll syndrome","Lucey-Driscoll syndrome","Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A1","Reduced activity","Drug Response","Pharmacogenetic","Crigler-Najjar syndrome:Autosomal Recessive$Crigler-Najjar syndrome, type I:Autosomal Recessive$Crigler-Najjar syndrome, type II:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","Crigler-Najjar syndrome:Autosomal Recessive$Hyperbilirubinemia:Autosomal Dominant$Serum bilirubin level:Modifier$Gilbert's syndrome:Autosomal Dominant$Gilbert's syndrome:Autosomal Recessive","HIGH","-~-~191740~-","UGT1A1"]
["UGT1A10","Crigler-Najjar syndrome","NULL","HGMD does not mention association with this disease","NULL","NULL","HIGH","-~-~606435~-","UGT1A10"]
["UGT1A10","Crigler-Najjar syndrome 1","NULL","HGMD does not mention association with this disease","NULL","NULL","HIGH","-~-~606435~-","UGT1A10"]
["UGT1A10","Crigler-Najjar syndrome 2","NULL","HGMD does not mention association with this disease","NULL","NULL","HIGH","-~-~606435~-","UGT1A10"]
["UGT1A10","Gilbert syndrome","NULL","HGMD does not mention association with this disease","NULL","NULL","HIGH","-~-~606435~-","UGT1A10"]
["UGT1A10","Hyperbilirubinaemia, unconjugated","NULL","HGMD does not mention association with this disease","NULL","NULL","HIGH","-~-~606435~-","UGT1A10"]
["UGT1A4","Crigler-Najjar syndrome 2","Crigler-Najjar syndrome, type II","Autosomal Recessive","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606429~-","UGT1A4"]
["UGT1A4","Null allele","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~606429~-","UGT1A4"]
["UGT1A4","Reduced expression","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606429~-","UGT1A4"]
["UGT1A5","UDP glucuronosyltransferase deficiency","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606430~-","UGT1A5"]
["UGT1A6","Lung cancer, reduced risk","Small cell carcinoma of lung","Decreased Risk","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606431~-","UGT1A6"]
["UGT1A6","UDP glycosyltransferase deficiency","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606431~-","UGT1A6"]
["UGT1A7","UDP glycosyltransferase deficiency","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606432~-","UGT1A7"]
["UGT1A9","Increased expression","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606434~-","UGT1A9"]
["UGT1A9","UDP glycosyltransferase deficiency","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~606434~-","UGT1A9"]
["UGT2A1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604716~-","UGT2A1"]
["UGT2B10","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~600070~-","UGT2B10"]
["UGT2B15","Increased gene expression","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~600069~-","UGT2B15"]
["UGT2B7","Altered mRNA expression","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~600068~-","UGT2B7"]
["UGT2B7","Reduced binding capacity","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~600068~-","UGT2B7"]
["UIMC1","Reduced ubiquitin binding","Malignant tumor of breast","Autosomal Dominant",null,null,"HIGH","-~-~609433~-","UIMC1"]
["UMOD","FJHN/MCKD syndrome","Familial juvenile gout;Medullary cystic kidney disease type 2","Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMOD","Glomerulocystic kidney disease","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria","Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMOD","Hyperuricaemic nephropathy, juvenile","Familial juvenile gout","Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMOD","Increased plasma uric acid concentration","Increased uric acid level","Risk","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMOD","Medullary cystic kidney disease 2","Medullary cystic kidney disease type 2","Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMOD","Reduced kidney function, hyperuricaemia and impaired urine-concentrating ability","Hyperuricemia","Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMOD","Renal insufficiency","Renal failure syndrome","Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMOD","Tubulointerstitial nephritis","Tubulointerstitial nephritis","Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Medullary cystic kidney disease type 2:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:Autosomal Dominant$Juvenile gout:Autosomal Dominant$Nephronophthisis:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1356~191845~-","UMOD"]
["UMPS","Oroticaciduria 1","Orotic aciduria","Autosomal Recessive","Orotic aciduria:Autosomal Recessive","Orotic aciduria:Autosomal Recessive","HIGH","-~-~613891~-","UMPS"]
["UNC119","CD4 lymphopenia, idiopathic","T-Lymphocytopenia, Idiopathic CD4-Positive","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Immunodeficiency disorder:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Immunodeficiency disorder:Autosomal Dominant","HIGH","-~-~604011~-","UNC119"]
["UNC119","Cone-rod dystrophy","Progressive cone-rod dystrophy","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Immunodeficiency disorder:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Immunodeficiency disorder:Autosomal Dominant","HIGH","-~-~604011~-","UNC119"]
["UNC119","Cone-rod dystrophy, late-onset","Progressive cone-rod dystrophy","Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Immunodeficiency disorder:Autosomal Dominant","Progressive cone-rod dystrophy:Autosomal Dominant$Immunodeficiency disorder:Autosomal Dominant","HIGH","-~-~604011~-","UNC119"]
["UNC13B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605836~-","UNC13B"]
["UNC13D","Autoimmune lymphoproliferative syndrome","Autoimmune Lymphoproliferative Syndrome","Risk","Hemophagocytic lymphohistiocytosis, familial, 3:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201294[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~608897~-","UNC13D"]
["UNC13D","Haemophagocytic lymphohistiocytosis","Hemophagocytic lymphohistiocytosis","Autosomal Recessive","Hemophagocytic lymphohistiocytosis, familial, 3:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201294[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~608897~-","UNC13D"]
["UNC13D","Haemophagocytic lymphohistiocytosis type 3","Hemophagocytic lymphohistiocytosis","Autosomal Recessive","Hemophagocytic lymphohistiocytosis, familial, 3:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201294[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~608897~-","UNC13D"]
["UNC13D","Haemophagocytic lymphohistiocytosis, atypical familial","Familial hemophagocytic lymphohistiocytosis","Autosomal Recessive","Hemophagocytic lymphohistiocytosis, familial, 3:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201294[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~608897~-","UNC13D"]
["UNC13D","Haemophagocytic lymphohistiocytosis, familial","Familial hemophagocytic lymphohistiocytosis","Autosomal Recessive","Hemophagocytic lymphohistiocytosis, familial, 3:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201294[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~608897~-","UNC13D"]
["UNC13D","Juvenile idiopathic arthritis","Juvenile idiopathic arthritis","Autosomal Recessive","Hemophagocytic lymphohistiocytosis, familial, 3:Autosomal Recessive$Hemophagocytic lymphohistiocytosis:Autosomal Recessive","Hemophagocytic lymphohistiocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=201294[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1444~608897~-18240215","UNC13D"]
["UNC5C","Colorectal cancer","Colorectal Cancer","Autosomal Dominant",null,null,"HIGH","-~-~603610~-","UNC5C"]
["UNC80","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612636~-","UNC80"]
["UNC93A","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607995~-","UNC93A"]
["UNG","IgA and IgG hypogammaglobulinaemia","Hyper IgM Immunodeficiency Syndrome, Type 5","Autosomal Recessive","Hyper IgM Immunodeficiency Syndrome, Type 5:Autosomal Recessive$Hyperimmunoglobulin M syndrome:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7374[geneid]~-~191525~-","UNG"]
["UNG","Immunodeficiency with hyper-IgM","Hyper IgM Immunodeficiency Syndrome, Type 5","Autosomal Recessive","Hyper IgM Immunodeficiency Syndrome, Type 5:Autosomal Recessive$Hyperimmunoglobulin M syndrome:Autosomal Recessive","Hyperimmunoglobulin M syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7374[geneid]~-~191525~-","UNG"]
["UNKL","Altered p53 binding","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64718[geneid]~-~-~-","UNKL"]
["UPF3B","Lujan-Fryns syndrome","X-linked mental retardation with marfanoid habitus syndrome","X-linked Recessive","Mental Retardation, X-Linked, Syndromic 14:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65109[geneid]~-~300298~-","UPF3B"]
["UPF3B","Mental retardation","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked, Syndromic 14:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65109[geneid]~-~300298~-","UPF3B"]
["UPF3B","Renal dysplasia & developmental delay","Renal dysplasia;Developmental delay","X-linked Recessive","Mental Retardation, X-Linked, Syndromic 14:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65109[geneid]~-~300298~-","UPF3B"]
["UPF3B","Schizophrenia, childhood onset and autism spectrum disorders","Schizophrenia, Childhood;Autistic Disorder","X-linked Recessive","Mental Retardation, X-Linked, Syndromic 14:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65109[geneid]~-~300298~-","UPF3B"]
["UPK3A","Renal adysplasia","Renal adysplasia","Autosomal Dominant","Renal adysplasia:Autosomal Dominant$Urogenital adysplasia:Autosomal Dominant","Renal adysplasia:Autosomal Dominant$Urogenital adysplasia:Autosomal Dominant","HIGH","-~-~611559~-","UPK3A"]
["UPK3A","Renal hypodysplasia","Renal Hypodysplasia, Nonsyndromic, 1","Autosomal Dominant","Renal adysplasia:Autosomal Dominant$Urogenital adysplasia:Autosomal Dominant","Renal adysplasia:Autosomal Dominant$Urogenital adysplasia:Autosomal Dominant","HIGH","-~-~611559~-","UPK3A"]
["UQCRB","Complex III deficiency","Ubiquinone dehydrogenase","Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7381[geneid]~-~191330~-","UQCRB"]
["UQCRC2","Mitochondrial complex III deficiency","Mitochondrial Complex III Deficiency","Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7385[geneid]~-~191329~-","UQCRC2"]
["UQCRQ","Complex III deficiency","Ubiquinone dehydrogenase","Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","Mitochondrial Complex III Deficiency:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27089[geneid]~-~612080~-","UQCRQ"]
["UROC1","Urocanic aciduria","Urocanate hydratase deficiency","Autosomal Recessive","Urocanase deficiency:Autosomal Recessive$Urocanate hydratase deficiency:Autosomal Recessive","Urocanate hydratase deficiency:Autosomal Recessive","HIGH","-~-~613012~-","UROC1"]
["UROD","Porphyria","Porphyria cutanea tarda","Autosomal Dominant","Porphyria cutanea tarda:Autosomal Dominant$Homozygous porphyria cutanea tarda:Autosomal Recessive","Porphyria cutanea tarda:Autosomal Dominant$Homozygous porphyria cutanea tarda:Autosomal Recessive","HIGH","-~-~613521~-","UROD"]
["UROD","Porphyria, cutanea tarda","Porphyria cutanea tarda","Autosomal Dominant","Porphyria cutanea tarda:Autosomal Dominant$Homozygous porphyria cutanea tarda:Autosomal Recessive","Porphyria cutanea tarda:Autosomal Dominant$Homozygous porphyria cutanea tarda:Autosomal Recessive","HIGH","-~-~613521~-","UROD"]
["UROD","Porphyria, hepatoerythropoietic","Homozygous porphyria cutanea tarda","Autosomal Recessive","Porphyria cutanea tarda:Autosomal Dominant$Homozygous porphyria cutanea tarda:Autosomal Recessive","Porphyria cutanea tarda:Autosomal Dominant$Homozygous porphyria cutanea tarda:Autosomal Recessive","HIGH","-~-~613521~-","UROD"]
["UROS","Porphyria, erythropoietic","Congenital erythropoietic porphyria","Autosomal Recessive","Congenital erythropoietic porphyria:Autosomal Recessive","Congenital erythropoietic porphyria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7390[geneid]~-~606938~-","UROS"]
["USH1C","Nonsyndromic deafness","Deafness","Autosomal Recessive","Deafness, Autosomal Recessive 18:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1C:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10083[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605242~-","USH1C"]
["USH1C","Retinitis pigmentosa & hearing loss","Retinitis pigmentosa-deafness syndrome","Autosomal Recessive","Deafness, Autosomal Recessive 18:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1C:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10083[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605242~-","USH1C"]
["USH1C","Usher syndrome 1","Usher syndrome, type 1C","Autosomal Recessive","Deafness, Autosomal Recessive 18:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1C:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10083[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605242~-","USH1C"]
["USH1C","Usher syndrome 1c","Usher syndrome, type 1C","Autosomal Recessive","Deafness, Autosomal Recessive 18:Autosomal Recessive$Deafness:Autosomal Recessive$Usher syndrome, type 1C:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Deafness:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10083[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~605242~-","USH1C"]
["USH1G","Usher syndrome 1","Usher syndrome, type 1G","Autosomal Recessive","Usher syndrome, type 1G:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124590[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~607696~-","USH1G"]
["USH1G","Usher syndrome 1g","Usher syndrome, type 1G","Autosomal Recessive","Usher syndrome, type 1G:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124590[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~607696~-","USH1G"]
["USH1G","Usher syndrome, atypical","Usher syndrome","Autosomal Recessive","Usher syndrome, type 1G:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=124590[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1265~607696~-","USH1G"]
["USH2A","Autism","Autistic Disorder","Risk","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Autism spectrum disorder","Autistic Disorder","Risk","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Deafness, non-syndromic","Deafness","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Retinitis pigmentosa, recessive, no hearing loss","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Usher syndrome","Usher syndrome type 1","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Usher syndrome 1","Usher syndrome type 1","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Usher syndrome 2","Usher syndrome type 2","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Usher syndrome 2a","Usher syndrome type 2","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Usher syndrome 2A","Usher syndrome type 2","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USH2A","Usher syndrome 3","Usher Syndrome, Type III","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome, type 2A:Autosomal Recessive$Usher syndrome:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive$Usher syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1341~608400~-","USH2A"]
["USP15","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~604731~-","USP15"]
["USP26","Azoospermia / oligozoospermia","Azoospermia","X-linked Recessive","Male infertility:X-linked Recessive","Male infertility:X-linked Recessive","HIGH","-~-~300309~-","USP26"]
["USP26","Infertility, idiopathic","Male infertility","X-linked Recessive","Male infertility:X-linked Recessive","Male infertility:X-linked Recessive","HIGH","-~-~300309~-","USP26"]
["USP30","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612492~-","USP30"]
["USP34","Congenital heart disease","Congenital heart disease","Risk",null,null,null,"-~-~-~-","USP34"]
["USP44","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~610993~-","USP44"]
["USP46","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~612849~-","USP46"]
["USP54","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","USP54"]
["USP6NL","Colorectal cancer","Colorectal Cancer","Risk",null,null,"HIGH","-~-~605405~-","USP6NL"]
["USP9Y","Azoospermia","Spermatogenic Failure, Nonobstructive, Y-Linked","Y-linked","Spermatogenic Failure, Nonobstructive, Y-Linked:Y-linked$Primary spermatogenic failure:Y-linked","Primary spermatogenic failure:Y-linked","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1339~400005~-","USP9Y"]
["UTF1","Altered function","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~604130~-","UTF1"]
["UVSSA","UV-sensitive syndrome","UV-sensitive syndrome","Autosomal Recessive","UV-sensitive syndrome:Autosomal Recessive","UV-sensitive syndrome:Autosomal Recessive","HIGH","-~-~614632~-","UVSSA"]
["VAMP1","Spastic ataxia","Spastic Ataxia","Autosomal Dominant",null,null,"HIGH","-~-~185880~-","VAMP1"]
["VANGL1","Caudal dysplasia sequence","Caudal dysplasia sequence","Autosomal Dominant","Caudal dysplasia sequence:Autosomal Dominant$Neural tube defect:Autosomal Dominant","Caudal dysplasia sequence:Autosomal Dominant$Neural tube defect:Autosomal Dominant","HIGH","-~-~610132~-","VANGL1"]
["VANGL1","Neural tube defects","Neural tube defect","Autosomal Dominant","Caudal dysplasia sequence:Autosomal Dominant$Neural tube defect:Autosomal Dominant","Caudal dysplasia sequence:Autosomal Dominant$Neural tube defect:Autosomal Dominant","HIGH","-~-~610132~-","VANGL1"]
["VANGL2","Neural tube defects","Neural tube defect","Autosomal Dominant","Neural tube defect:Autosomal Dominant","Neural tube defect:Autosomal Dominant","HIGH","-~-~600533~-","VANGL2"]
["VAPB","Amyotrophic lateral sclerosis","Amyotrophic Lateral Sclerosis 8;Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic Lateral Sclerosis 8:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Spinal Muscular Atrophy, Late-Onset, Finkel Type:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~605704~-","VAPB"]
["VAPB","Spinal muscular atrophy, late-onset, Finkel type","Spinal Muscular Atrophy, Late-Onset, Finkel Type","Autosomal Dominant","Amyotrophic Lateral Sclerosis 8:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Spinal Muscular Atrophy, Late-Onset, Finkel Type:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Spinal muscular atrophy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~605704~-","VAPB"]
["VAPB","VAPB variant","NULL","no disease association PMID 18322265","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9217[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~605704~-","VAPB"]
["VAV3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605541~-","VAV3"]
["VAX1","Microphthalmia","Microphthalmos","Autosomal Recessive","Microphthalmos:Autosomal Recessive","Microphthalmos:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11023[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~604294~-","VAX1"]
["VCAN","Wagner syndrome","Hyaloideoretinal degeneration of Wagner","Autosomal Dominant","Hyaloideoretinal degeneration of Wagner:Autosomal Dominant","Hyaloideoretinal degeneration of Wagner:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1462[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3821~118661~-","VCAN"]
["VCAN","Wagner syndrome","Wagner syndrome","Autosomal Dominant","Hyaloideoretinal degeneration of Wagner:Autosomal Dominant","Hyaloideoretinal degeneration of Wagner:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1462[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK3821~118661~-","VCAN"]
["VCL","Cardiomyopathy, dilated","Cardiomyopathy, Dilated, 1W;Dilated cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1W:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 15:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7414[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~193065~-","VCL"]
["VCL","Cardiomyopathy, hypertrophic","Cardiomyopathy, Familial Hypertrophic, 15;Hypertrophic cardiomyopathy","Autosomal Dominant","Cardiomyopathy, Dilated, 1W:Autosomal Dominant$Dilated cardiomyopathy:Autosomal Dominant$Cardiomyopathy, Familial Hypertrophic, 15:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","Dilated cardiomyopathy:Autosomal Dominant$Hypertrophic cardiomyopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7414[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~193065~-","VCL"]
["VCP","Alzheimer disease","NULL","no disease association PMID 17622780","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1450~601023~-","VCP"]
["VCP","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis 14;Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis 14:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1476$http://www.ncbi.nlm.nih.gov/books/NBK1450~601023~-","VCP"]
["VCP","Autism","Autistic Disorder","Risk","Amyotrophic lateral sclerosis 14:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1476$http://www.ncbi.nlm.nih.gov/books/NBK1450~601023~-","VCP"]
["VCP","IBMPFD","Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia","Autosomal Dominant","Amyotrophic lateral sclerosis 14:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1476$http://www.ncbi.nlm.nih.gov/books/NBK1450~601023~-","VCP"]
["VCP","IBMPFD / Amyotrophic lateral sclerosis","Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia;Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis 14:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1476$http://www.ncbi.nlm.nih.gov/books/NBK1450~601023~-","VCP"]
["VCP","Myopathy, rimmed vacuolar","Distal myopathy, Nonaka type","Autosomal Dominant","Amyotrophic lateral sclerosis 14:Autosomal Dominant$Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant$Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7415[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1476$http://www.ncbi.nlm.nih.gov/books/NBK1450~601023~-","VCP"]
["VDR","Atrichia","Atrichia","Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7421[geneid]~-~601769~-","VDR"]
["VDR","Rickets, vitamin D dependent, type II","Vitamin D-dependent rickets, type 2","Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7421[geneid]~-~601769~-","VDR"]
["VDR","Rickets, vitamin D resistant","Rickets, Hereditary Vitamin D-Resistant","Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7421[geneid]~-~601769~-","VDR"]
["VDR","Rickets, vitamin D resistant, with alopecia","Vitamin D-dependent rickets type II with alopecia","Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7421[geneid]~-~601769~-","VDR"]
["VDR","Rickets, vitamin D resistant, without alopecia","Rickets, Hereditary Vitamin D-Resistant","Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","Senile osteoporosis:Autosomal Dominant$Rickets, Hereditary Vitamin D-Resistant:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7421[geneid]~-~601769~-","VDR"]
["VEGFA","Amyotrophic lateral sclerosis","Amyotrophic lateral sclerosis","Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","Amyotrophic lateral sclerosis:Autosomal Dominant","HIGH","-~-~192240~-","VEGFA"]
["VEGFA","Left ventricular outflow tract obstruction","Left ventricular outflow tract obstruction","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant","Aortic valve disorder:Autosomal Dominant","HIGH","-~-~192240~-","VEGFA"]
["VEGFA","Tricuspid aortic valve stenosis","Aortic valve stenosis","Autosomal Dominant","Aortic valve disorder:Autosomal Dominant","Aortic valve disorder:Autosomal Dominant","HIGH","-~-~192240~-","VEGFA"]
["VHL","Bilateral renal tumours","Neoplasm of kidney","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Erythrocytosis & pulmonary arterial hypertension","Erythrocytosis, Familial, 2;Familial erythrocytosis;Primary pulmonary hypertension","Autosomal Recessive","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Haemangioblastoma","Hemangioblastoma","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Increased expression","NULL","no disease association PMID 22496669","NULL","NULL","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Pancreatic cancer","Malignant tumor of pancreas","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Phaeochromocytoma","Pheochromocytoma","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Phaeochromocytoma and paraganglioma","Pheochromocytoma;Paraganglioma","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Polycythaemia","Erythrocytosis, Familial, 2;Familial erythrocytosis","Autosomal Recessive","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Polycythaemia, with high epo concentration","Erythrocytosis, Familial, 2;Familial erythrocytosis","Autosomal Recessive","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Von Hippel-Lindau syndrome","Von Hippel-Lindau syndrome","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Von Hippel-Lindau syndrome & phaeochromocytoma","Von Hippel-Lindau syndrome;Pheochromocytoma","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Von Hippel-Lindau syndrome, type 2A","Von Hippel-Lindau syndrome","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VHL","Von Hippel-Lindau syndrome, type I","Von Hippel-Lindau syndrome","Autosomal Dominant","Erythrocytosis, Familial, 2:Autosomal Recessive$Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","Erythrocytosis:Autosomal Recessive$Hemangioblastoma:Autosomal Dominant$Pheochromocytoma:Autosomal Dominant$Neoplasm of kidney:Autosomal Dominant$Von Hippel-Lindau syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7428[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1463~608537~-","VHL"]
["VIM","Congenital cataract","Congenital cataract","Autosomal Dominant","Cataract:Autosomal Dominant","Cataract:Autosomal Dominant","HIGH","-~-~193060~-","VIM"]
["VIMP","Proinflammatory cytokine levels","Inflammatory response","Modifier",null,null,"HIGH","-~-~607918~-","VIMP"]
["VIP","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~192320~-","VIP"]
["VKORC1","Coumarin resistance","Coumarin Resistance","Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79001[geneid]~-~608547~-","VKORC1"]
["VKORC1","Fluindione resistance","Drug Response","Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79001[geneid]~-~608547~-","VKORC1"]
["VKORC1","Oral anticoagulant resistance","Drug Response","Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79001[geneid]~-~608547~-","VKORC1"]
["VKORC1","Oral anticoagulants resistance","Drug Response","Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79001[geneid]~-~608547~-","VKORC1"]
["VKORC1","Vitamin K-dependent clotting factors, deficiency, type 2","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2","Autosomal Recessive","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79001[geneid]~-~608547~-","VKORC1"]
["VKORC1","Warfarin resistance","Coumarin Resistance","Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79001[geneid]~-~608547~-","VKORC1"]
["VKORC1","Warfarin sensitivity","Warfarin Sensitivity","Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2:Autosomal Recessive$Coumarin Resistance:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79001[geneid]~-~608547~-","VKORC1"]
["VLDLR","Cerebellar ataxia with intellectual disability","Cerebellar ataxia;Intellectual Disability","Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive$Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1:Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1874~192977~-","VLDLR"]
["VLDLR","Cerebellar ataxia, mental retardation and dysequilibrium syndrome","Cerebellar ataxia;Intellectual Disability;Dysequilibrium syndrome","Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive$Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1:Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1874~192977~-","VLDLR"]
["VLDLR","Cerebellar hypoplasia and quadrupedal locomotion","Congenital cerebellar hypoplasia;Dysequilibrium syndrome","Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive$Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1:Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1874~192977~-","VLDLR"]
["VLDLR","Dysequilibrium syndrome","Dysequilibrium syndrome","Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive$Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1:Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1874~192977~-","VLDLR"]
["VLDLR","Pontocerebellar hypoplasia, cortical dysplasia, mental retardation and bipedal gait","Pontoneocerebellar hypoplasia;Cortical Dysplasia;Mental retardation;","Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive$Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1:Autosomal Recessive","Cerebellar Hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7436[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1874~192977~-","VLDLR"]
["VMA21","X-linked myopathy with excessive autophagy","Myopathy, X-Linked, with Excessive Autophagy","X-linked Recessive","Myopathy, X-Linked, with Excessive Autophagy:X-linked Recessive","Myopathy, X-Linked, with Excessive Autophagy:X-linked Recessive",null,"-~-~310440~-","VMA21"]
["VMA21","X-linked myopathy with excessive autophagy","NULL","Cannot determine. Need full text PMID 19379691","NULL","NULL",null,"-~-~~-","VMA21"]
["VMD2","Adult vitelliform macular dystrophy","Adult vitelliform macular dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Adult vitelliform maculopathy","Adult vitelliform macular dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Age-related macular degeneration","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Best macular dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Bestrophinopathy","Bestrophinopathy","Autosomal Recessive","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Bulls eye maculopathy","Bull's eye macular dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Juvenile vitelliform macular dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Leber congenital amaurosis","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Macular degeneration, age related","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Multifocal best vitelliform macular dystrophy","Vitelliform dystrophy","Autosomal Recessive","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Multifocal vitelliform dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Nanophthalmos and retinal dystrophy","Simple microphthalmos;Vitreoretinochoroidopathy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Retinal dystrophy","Vitelliform dystrophy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Retinitis pigmentosa","Retinitis pigmentosa","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VMD2","Vitreoretinochoroidopathy, Autosomal Dominant","Vitreoretinochoroidopathy","Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","Vitelliform dystrophy:Autosomal Dominant$Bestrophinopathy:Autosomal Recessive$Bull's eye macular dystrophy:Autosomal Dominant$Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma:Autosomal Dominant$Retinitis pigmentosa:Autosomal Dominant$Adult vitelliform macular dystrophy:Autosomal Dominant$Vitreoretinochoroidopathy:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7439[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417$http://www.ncbi.nlm.nih.gov/books/NBK1167~607854~-","BEST1"]
["VPS13A","Chorea-acanthocytosis","Choreoacanthocytosis","Autosomal Recessive","Choreoacanthocytosis:Autosomal Recessive","Choreoacanthocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23230[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1387~605978~-","VPS13A"]
["VPS13A","Chorea-acanthocytosis with dilated cardiomyopathy & myopathy","Choreoacanthocytosis;Dilated cardiomyopathy;Myopathy","Autosomal Recessive","Choreoacanthocytosis:Autosomal Recessive","Choreoacanthocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23230[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1387~605978~-","VPS13A"]
["VPS13A","Chorea-acanthocytosis with upper motor neuron degeneration","Choreoacanthocytosis;Upper motor neuron disease","Autosomal Recessive","Choreoacanthocytosis:Autosomal Recessive","Choreoacanthocytosis:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23230[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1387~605978~-","VPS13A"]
["VPS13B","Autism","Autistic Disorder","Risk","Cohen syndrome:Autosomal Recessive","Cohen syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=157680[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1482~607817~-","VPS13B"]
["VPS13B","Cohen syndrome","Cohen syndrome","Autosomal Recessive","Cohen syndrome:Autosomal Recessive","Cohen syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=157680[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1482~607817~-","VPS13B"]
["VPS13B","Cohen syndrome, cutis verticis gyrata & sensorineural deafness","Cohen syndrome;Cutis verticis gyrata;Sensorineural hearing loss","Autosomal Recessive","Cohen syndrome:Autosomal Recessive","Cohen syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=157680[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1482~607817~-","VPS13B"]
["VPS13B","Intellectual disability","Intellectual Disability","Risk","Cohen syndrome:Autosomal Recessive","Cohen syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=157680[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1482~607817~-","VPS13B"]
["VPS33B","Arthrogryposis, renal dysfunction and cholestasis","Arthrogryposis renal dysfunction cholestasis syndrome","Autosomal Recessive","Arthrogryposis renal dysfunction cholestasis syndrome:Autosomal Recessive","Arthrogryposis renal dysfunction cholestasis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26276[geneid]~-~608552~-","VPS33B"]
["VPS33B","Renal dysfunction, cholestasis & ichthyosis","Kidney disease;Cholestasis;Congenital ichthyosis of skin","Autosomal Recessive","Arthrogryposis renal dysfunction cholestasis syndrome:Autosomal Recessive","Arthrogryposis renal dysfunction cholestasis syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26276[geneid]~-~608552~-","VPS33B"]
["VPS35","Lewy body disorder","Diffuse Lewy body disease","Autosomal Dominant","Parkinson disease 17:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601501~-","VPS35"]
["VPS35","Parkinson disease","Parkinson's disease","Autosomal Dominant","Parkinson disease 17:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601501~-","VPS35"]
["VPS35","Parkinson disease, late-onset, Autosomal Dominant","Parkinson disease 17;Parkinson's disease","Autosomal Dominant","Parkinson disease 17:Autosomal Dominant$Parkinson's disease:Autosomal Dominant","Parkinson's disease:Autosomal Dominant","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1223~601501~-","VPS35"]
["VPS37A","Spastic paraparesis, complex","Spastic paraplegia","Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","-~-~609927~-","VPS37A"]
["VPS39","Schizophrenia","Schizophrenia","Risk","Schizophrenia:Risk","Schizophrenia:Risk","HIGH","-~-~612188~-","VPS39"]
["VPS45","Neutropaenia, neutrophil dysfunction, bone marrow fibrosis & nephromegaly","Severe congenital neutropenia","Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","HIGH","-~-~610035~-","VPS45"]
["VPS45","Neutropaenia, thrombasthenia & myelofibrosis of infancy","Severe congenital neutropenia","Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","Severe congenital neutropenia:Autosomal Recessive","HIGH","-~-~610035~-","VPS45"]
["VRK1","Pontocerebellar hypoplasia","Pontocerebellar hypoplasia type 1A;Congenital pontocerebellar hypoplasia","Autosomal Recessive","Pontocerebellar hypoplasia type 1A:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7443[geneid]~-~602168~-","VRK1"]
["VRK1","Spinal muscular atrophy with pontocerebellar hypoplasia","Spinal muscular atrophy;Congenital pontocerebellar hypoplasia","Autosomal Recessive","Pontocerebellar hypoplasia type 1A:Autosomal Recessive$Pontoneocerebellar hypoplasia:Autosomal Recessive","Pontoneocerebellar hypoplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7443[geneid]~-~602168~-","VRK1"]
["VSX1","Craniofacial and anterior segment developmental abnormalities","Craniofacial anomalies and anterior segment dysgenesis syndrome","Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus 1:Autosomal Dominant$Keratoconus:Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30813[geneid]~-~605020~-","VSX1"]
["VSX1","Inner retina abnormality","Retinal disorder","Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus 1:Autosomal Dominant$Keratoconus:Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30813[geneid]~-~605020~-","VSX1"]
["VSX1","Keratoconus","Keratoconus","Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus 1:Autosomal Dominant$Keratoconus:Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30813[geneid]~-~605020~-","VSX1"]
["VSX1","Posterior polymorphous dystrophy","Polymorphous corneal dystrophy","Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus 1:Autosomal Dominant$Keratoconus:Autosomal Dominant","Polymorphous corneal dystrophy:Autosomal Dominant$Craniofacial anomalies and anterior segment dysgenesis syndrome:Autosomal Dominant$Keratoconus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=30813[geneid]~-~605020~-","VSX1"]
["VSX2","Anophthalmia, bilateral","Anophthalmos","Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338917[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~142993~-","VSX2"]
["VSX2","Microphthalmia","Microphthalmos","Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338917[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~142993~-","VSX2"]
["VSX2","Microphthalmia, bilateral & coloboma","Microphthalmia, Isolated, with Coloboma 3","Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338917[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~142993~-","VSX2"]
["VSX2","Microphthalmia, cataract and iris abnormality","Microphthalmos;Cataract;Congenital anomaly of iris","Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338917[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~142993~-","VSX2"]
["VSX2","Primary angle closure glaucoma","Primary angle-closure glaucoma","Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","Microphthalmia, Isolated, with Coloboma 3:Autosomal Recessive$Microphthalmos:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=338917[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1378~142993~-","VSX2"]
["VWA3B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","VWA3B"]
["VWF","Altered ristocetin-induced platelet aggregation","von Willebrand disease type IIA","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Defective collagen binding","von Willebrand disease type IICB","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Increased protein cleavage by ADAMTS13","von Willebrand disease type IIA","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Reduced protein cleavage by ADAMTS13","von Willebrand disease type 1","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease","von Willebrand disease type 1","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 1","von Willebrand disease type 1","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2","von Willebrand disease type 2","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2a","von Willebrand disease type IIA","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2b","von Willebrand disease type IIB","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2b-like","von Willebrand disease type IIB","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2c","von Willebrand disease type IIC","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2m","von Willebrand disease type 2M","Autosomal Dominant","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2n","von Willebrand disease type 2N","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2n/1","von Willebrand disease type 1","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2n/1","von Willebrand disease type 2N","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 2u","von Willebrand disease type 2","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand disease 3","von Willebrand disease type 3","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["VWF","Von Willebrand, Normandy variant","von Willebrand disease type 2N","Autosomal Recessive","von Willebrand disease, type 1:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Dominant$von Willebrand disease type 2A:Autosomal Recessive$von Willebrand disease type 2B:Autosomal Dominant$von Willebrand disease type 2B:Autosomal Recessive$von Willebrand disease type 2M:Autosomal Dominant$von Willebrand disease type 2N:Autosomal Recessive$von Willebrand disease type 3:Autosomal Recessive$von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","von Willebrand disease:Autosomal Dominant$von Willebrand disease:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7450[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK7014~613160~-","VWF"]
["vWF-CP","ADAMTS13 deficiency","A disintegrin and metalloproteinase with thrombospondin type 1 motif 13 deficiency (ADAMTS13)","Autosomal Recessive","Familial Thrombotic Thrombocytopenic Purpura:Autosomal Recessive$Thrombotic thrombocytopenic purpura:Autosomal Recessive","Thrombotic thrombocytopenic purpura:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11093[geneid]~-~604134~-","ADAMTS13"]
["vWF-CP","ADAMTS13 deficiency & Upshaw-Schulman syndrome","Upshaw-Schulman syndrome","Autosomal Recessive","Familial Thrombotic Thrombocytopenic Purpura:Autosomal Recessive$Thrombotic thrombocytopenic purpura:Autosomal Recessive","Thrombotic thrombocytopenic purpura:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11093[geneid]~-~604134~-","ADAMTS13"]
["vWF-CP","Thrombotic thrombocytopaenic purpura","Upshaw-Schulman syndrome","Autosomal Recessive","Familial Thrombotic Thrombocytopenic Purpura:Autosomal Recessive$Thrombotic thrombocytopenic purpura:Autosomal Recessive","Thrombotic thrombocytopenic purpura:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11093[geneid]~-~604134~-","ADAMTS13"]
["vWF-CP","Upshaw-Schulman syndrome","Upshaw-Schulman syndrome","Autosomal Recessive","Familial Thrombotic Thrombocytopenic Purpura:Autosomal Recessive$Thrombotic thrombocytopenic purpura:Autosomal Recessive","Thrombotic thrombocytopenic purpura:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11093[geneid]~-~604134~-","ADAMTS13"]
["WAC","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~615049~-","WAC"]
["WAS","Neutropaenia, severe congenital, X-linked","Neutropenia, Severe Congenital, X-Linked;Congenital neutropenia","X-linked Recessive","Neutropenia, Severe Congenital, X-Linked:X-linked Recessive$Congenital neutropenia:X-linked Recessive$Refractory thrombocytopenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Thrombocytopenia, X-Linked, Intermittent:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","Congenital neutropenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7454[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1178~300392~-","WAS"]
["WAS","Thrombocytopaenia","Refractory thrombocytopenia","X-linked Recessive","Neutropenia, Severe Congenital, X-Linked:X-linked Recessive$Congenital neutropenia:X-linked Recessive$Refractory thrombocytopenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Thrombocytopenia, X-Linked, Intermittent:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","Congenital neutropenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7454[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1178~300392~-","WAS"]
["WAS","Thrombotic thrombocytopaenic purpura","Thrombotic thrombocytopenic purpura","X-linked Recessive","Neutropenia, Severe Congenital, X-Linked:X-linked Recessive$Congenital neutropenia:X-linked Recessive$Refractory thrombocytopenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Thrombocytopenia, X-Linked, Intermittent:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","Congenital neutropenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7454[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1178~300392~-","WAS"]
["WAS","Wiskott-Aldrich syndrome","Wiskott-Aldrich syndrome","X-linked Recessive","Neutropenia, Severe Congenital, X-Linked:X-linked Recessive$Congenital neutropenia:X-linked Recessive$Refractory thrombocytopenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Thrombocytopenia, X-Linked, Intermittent:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","Congenital neutropenia:X-linked Recessive$Thrombocytopenia:X-linked Recessive$Wiskott-Aldrich syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7454[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1178~300392~-","WAS"]
["WDFY3","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23001[geneid]~-~-~-","WDFY3"]
["WDR19","Asphyxiating thoracic dystrophy 5","Asphyxiating thoracic dystrophy 5","Autosomal Recessive","Asphyxiating thoracic dystrophy 5:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia 4:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Nephronophthisis 13:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","-~-~608151~-","WDR19"]
["WDR19","Nephronophthisis","Nephronophthisis 13;Nephronophthisis","Autosomal Recessive","Asphyxiating thoracic dystrophy 5:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia 4:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Nephronophthisis 13:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","-~-~608151~-","WDR19"]
["WDR19","Sensenbrenner syndrome","Cranioectodermal dysplasia 4;Cranioectodermal dysplasia","Autosomal Recessive","Asphyxiating thoracic dystrophy 5:Autosomal Recessive$Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia 4:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Nephronophthisis 13:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","Jeune thoracic dystrophy:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Nephronophthisis:Autosomal Recessive","HIGH","-~-~608151~-","WDR19"]
["WDR31","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","WDR31"]
["WDR35","Cranioectodermal dysplasia","Cranioectodermal dysplasia 2;Cranioectodermal dysplasia","Autosomal Recessive","Cranioectodermal dysplasia 2:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Short rib-polydactyly syndrome, type V:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Cranioectodermal dysplasia:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~613602~-","WDR35"]
["WDR35","Sensenbrenner syndrome","Cranioectodermal dysplasia 2;Cranioectodermal dysplasia","Autosomal Recessive","Cranioectodermal dysplasia 2:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Short rib-polydactyly syndrome, type V:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Cranioectodermal dysplasia:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~613602~-","WDR35"]
["WDR35","Short rib-polydactyly syndrome, type V","Short rib-polydactyly syndrome, type V","Autosomal Recessive","Cranioectodermal dysplasia 2:Autosomal Recessive$Cranioectodermal dysplasia:Autosomal Recessive$Short rib-polydactyly syndrome, type V:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","Cranioectodermal dysplasia:Autosomal Recessive$Short rib polydactyly syndrome:Autosomal Recessive","HIGH","-~-~613602~-","WDR35"]
["WDR36","Glaucoma, high tension","Glaucoma 1, Open Angle, G;Open-angle glaucoma","Autosomal Dominant","Glaucoma 1, Open Angle, G:Autosomal Dominant$Open-angle glaucoma:Autosomal Dominant","Open-angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=134430[geneid]~-~609669~-","WDR36"]
["WDR36","Glaucoma, primary open angle","Open-angle glaucoma","Autosomal Dominant","Glaucoma 1, Open Angle, G:Autosomal Dominant$Open-angle glaucoma:Autosomal Dominant","Open-angle glaucoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=134430[geneid]~-~609669~-","WDR36"]
["WDR4","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~605924~-","WDR4"]
["WDR45","Neurodegeneration with brain iron accumulation","Neurodegeneration with brain iron accumulation 5","X-linked Dominant","Neurodegeneration with brain iron accumulation 5:X-linked dominant$Neurodegeneration with brain iron accumulation:X-linked dominant","Neurodegeneration with brain iron accumulation:X-linked dominant","HIGH","-~-~300526~-","WDR45"]
["WDR45","Static encephalopathy of childhood with neurodegeneration in adulthood","Neurodegeneration with brain iron accumulation 5","X-linked Dominant","Neurodegeneration with brain iron accumulation 5:X-linked dominant$Neurodegeneration with brain iron accumulation:X-linked dominant","Neurodegeneration with brain iron accumulation:X-linked dominant","HIGH","-~-~300526~-","WDR45"]
["WDR45L","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~-~-","WDR45L"]
["WDR5","Congenital heart disease","Congenital heart disease","Risk",null,null,"HIGH","-~-~609012~-","WDR5"]
["WDR51A","Primordial dwarfism","Primordial dwarfism","Autosomal Recessive","Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:Autosomal Recessive","Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:Autosomal Recessive","HIGH","-~-~614783~-","POC1A"]
["WDR51A","Short stature, onychodysplasia, facial dysmorphism & hypotrichosis syndrome","Short stature disorder;Onychodysplasia;Congenital anomaly of face;Hypotrichosis","Autosomal Recessive","Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:Autosomal Recessive","Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:Autosomal Recessive","HIGH","-~-~614783~-","POC1A"]
["WDR62","Brain malformations, severe","Congenital anomaly of brain","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 2:Autosomal Recessive$Microcephalus:Autosomal Recessive","Microcephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~613583~-","WDR62"]
["WDR62","Microcephaly and cortical abnormalities","Microcephalus","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 2:Autosomal Recessive$Microcephalus:Autosomal Recessive","Microcephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~613583~-","WDR62"]
["WDR62","Microcephaly, primary","Microcephaly, Primary Autosomal Recessive, 2","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 2:Autosomal Recessive$Microcephalus:Autosomal Recessive","Microcephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~613583~-","WDR62"]
["WDR62","Microcephaly, primary Autosomal Recessive 2","Microcephaly, Primary Autosomal Recessive, 2","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 2:Autosomal Recessive$Microcephalus:Autosomal Recessive","Microcephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~613583~-","WDR62"]
["WDR62","Polymicrogyria","Microgyria","Autosomal Recessive","Microcephaly, Primary Autosomal Recessive, 2:Autosomal Recessive$Microcephalus:Autosomal Recessive","Microcephalus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=284403[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK9587~613583~-","WDR62"]
["WDR65","Van der Woude syndrome","Van der Woude syndrome","Autosomal Dominant","Van der Woude syndrome:Risk","Van der Woude syndrome:Risk","HIGH","-~-~614259~-","WDR65"]
["WDR66","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=144406[geneid]~-~-~-","WDR66"]
["WDR72","Amelogenesis imperfecta","Amelogenesis imperfecta","Autosomal Recessive","Amelogenesis Imperfecta, Hypomaturation Type, IIA3:Autosomal Recessive$Amelogenesis Imperfecta:Autosomal Recessive","Amelogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=256764[geneid]~-~613214~-","WDR72"]
["WDR72","Hypomaturation amelogenesis imperfecta","Amelogenesis Imperfecta, Hypomaturation Type, IIA3;Amelogenesis imperfecta, hypomaturation type","Autosomal Recessive","Amelogenesis Imperfecta, Hypomaturation Type, IIA3:Autosomal Recessive$Amelogenesis Imperfecta:Autosomal Recessive","Amelogenesis Imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=256764[geneid]~-~613214~-","WDR72"]
["WDR81","Cerebellar hypoplasia","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2","Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2:Autosomal Recessive","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2:Autosomal Recessive","HIGH","-~-~614218~-","WDR81"]
["WDR9","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","BRWD1"]
["WFS1","Diabetes, type 1, and sensorineural hearing loss","Diabetes mellitus type 1;Sensorineural hearing loss","Autosomal Recessive","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WFS1","Diabetes, type 2","Diabetes mellitus type 2","Autosomal Recessive","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WFS1","Optic atrophy & sensorineural hearing loss","Sensorineural hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WFS1","Optic atrophy, Autosomal Dominant, with hearing impairment","Sensorineural hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WFS1","Sensorineural hearing loss","Sensorineural hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WFS1","Sensorineural hearing loss, nonsyndromic","Sensorineural hearing loss","Autosomal Dominant","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WFS1","Wolfram syndrome","Diabetes mellitus AND insipidus with optic atrophy AND deafness","Autosomal Recessive","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WFS1","Wolframin variant","Diabetes mellitus AND insipidus with optic atrophy AND deafness","Autosomal Dominant","Deafness:Autosomal Dominant$Wolfram syndrome:Autosomal Recessive$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","Deafness:Autosomal Dominant$Diabetes mellitus AND insipidus with optic atrophy AND deafness:Autosomal Recessive$Wolfram-Like Syndrome, Autosomal Dominant:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7466[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK4144~606201~-","WFS1"]
["WIPF1","Wiskott-Aldrich syndrome","Wiskott-Aldrich syndrome 2;Wiskott-Aldrich syndrome","Autosomal Recessive","Wiskott-Aldrich syndrome:Autosomal Recessive","Wiskott-Aldrich syndrome:Autosomal Recessive","HIGH","-~-~602357~-","WIPF1"]
["WISP3","Pseudorheumatoid dysplasia, progressive","Progressive pseudorheumatoid dysplasia","Autosomal Recessive","Progressive pseudorheumatoid dysplasia:Autosomal Recessive","Progressive pseudorheumatoid dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8838[geneid]~-~603400~-","WISP3"]
["WISP3","Spondyloepiphyseal dysplasia tarda and arthropathy","Progressive pseudorheumatoid dysplasia","Autosomal Recessive","Progressive pseudorheumatoid dysplasia:Autosomal Recessive","Progressive pseudorheumatoid dysplasia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8838[geneid]~-~603400~-","WISP3"]
["WNK1","Neuropathy, hereditary sensory, type II","Hereditary sensory and autonomic neuropathy type II","Autosomal Recessive","Hereditary sensory and autonomic neuropathy type II:Autosomal Recessive$Pseudohypoaldosteronism, Type IIC:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Hereditary sensory and autonomic neuropathy type II:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65125[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK49247$http://www.ncbi.nlm.nih.gov/books/NBK65707~605232~-","WNK1"]
["WNK1","Pseudohypoaldosteronism, Type IIC","Pseudohypoaldosteronism, Type IIC","Autosomal Dominant","Hereditary sensory and autonomic neuropathy type II:Autosomal Recessive$Pseudohypoaldosteronism, Type IIC:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Hereditary sensory and autonomic neuropathy type II:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65125[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK49247$http://www.ncbi.nlm.nih.gov/books/NBK65707~605232~-","WNK1"]
["WNK1","Salt-losing tubulopathy","Salt-wasting syndrome of infancy","Autosomal Recessive","Hereditary sensory and autonomic neuropathy type II:Autosomal Recessive$Pseudohypoaldosteronism, Type IIC:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Hereditary sensory and autonomic neuropathy type II:Autosomal Recessive$Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65125[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK49247$http://www.ncbi.nlm.nih.gov/books/NBK65707~605232~-","WNK1"]
["WNK4","Hypertension","Essential hypertension","Autosomal Dominant","Pseudohypoaldosteronism, Type IIB:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65266[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK65707~601844~-","WNK4"]
["WNK4","Hypertension in pregnancy","Transient hypertension of pregnancy","Autosomal Dominant","Pseudohypoaldosteronism, Type IIB:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65266[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK65707~601844~-","WNK4"]
["WNK4","Pseudohypoaldosteronism 2","Pseudohypoaldosteronism, Type IIB;Pseudohypoaldosteronism, type 2","Autosomal Dominant","Pseudohypoaldosteronism, Type IIB:Autosomal Dominant$Pseudohypoaldosteronism:Autosomal Dominant","Pseudohypoaldosteronism:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=65266[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK65707~601844~-","WNK4"]
["WNT1","Osteogenesis imperfecta, Autosomal Dominant","Osteogenesis imperfecta","Autosomal Dominant","Osteogenesis imperfecta:Autosomal Dominant","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7471[geneid]~-~164820~-","WNT1"]
["WNT1","Osteogenesis imperfecta, Autosomal Recessive","Osteogenesis imperfecta","Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","Osteogenesis imperfecta:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7471[geneid]~-~164820~-","WNT1"]
["WNT10A","Ectodermal dysplasia","Ectodermal dysplasia","Autosomal Recessive","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Selective, 4:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80326[geneid]~-~606268~-","WNT10A"]
["WNT10A","Hypodontia","Tooth Agenesis, Selective, 4;Partial congenital absence of teeth","Autosomal Dominant","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Selective, 4:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80326[geneid]~-~606268~-","WNT10A"]
["WNT10A","Hypodontia, non-syndromic","Tooth Agenesis, Selective, 4;Partial congenital absence of teeth","Autosomal Recessive","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Selective, 4:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80326[geneid]~-~606268~-","WNT10A"]
["WNT10A","Odonto-onycho-dermal dysplasia","Odontoonychodermal dysplasia","Autosomal Recessive","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Selective, 4:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80326[geneid]~-~606268~-","WNT10A"]
["WNT10A","Schopf-Schulz-Passarge syndrome","Schopf-Schulz-Passarge Syndrome","Autosomal Recessive","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Selective, 4:Autosomal Dominant$Tooth Agenesis, Familial:Autosomal Dominant","Odontoonychodermal dysplasia:Autosomal Recessive$Schopf-Schulz-Passarge syndrome:Autosomal Recessive$Tooth Agenesis, Familial:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80326[geneid]~-~606268~-","WNT10A"]
["WNT10B","Obesity","Obesity","Risk","Split-Hand/Foot Malformation 6:Autosomal Recessive$Split-Hand/Foot Malformation:Autosomal Recessive","Split-Hand/Foot Malformation:Autosomal Recessive","HIGH","-~-~601906~-","WNT10B"]
["WNT10B","Split hand/foot malformation","Split-Hand/Foot Malformation","Autosomal Recessive","Split-Hand/Foot Malformation 6:Autosomal Recessive$Split-Hand/Foot Malformation:Autosomal Recessive","Split-Hand/Foot Malformation:Autosomal Recessive","HIGH","-~-~601906~-","WNT10B"]
["WNT3","Tetra-amelia","Tetra-amelia Autosomal Recessive","Autosomal Recessive","Tetra-amelia Autosomal Recessive:Autosomal Recessive","Tetra-amelia Autosomal Recessive:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1276~165330~-","WNT3"]
["WNT3A","Osteoporosis","Osteoporosis","Risk",null,null,"HIGH","-~-~606359~-","WNT3A"]
["WNT4","Mullerian duct abnormality and hyperandrogenism","Mullerian Aplasia and Hyperandrogenism","Autosomal Dominant","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$SERKAL syndrome:Autosomal Recessive$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547~603490~-","WNT4"]
["WNT4","Primary amenorrhea with Mullerian Duct abnormality","Primary physiologic amenorrhea;Mullerian aplasia","Autosomal Dominant","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$SERKAL syndrome:Autosomal Recessive$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547~603490~-","WNT4"]
["WNT4","Rokitansky-Kuster-Hauser syndrome","Rokitansky Kuster Hauser syndrome","Autosomal Dominant","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$SERKAL syndrome:Autosomal Recessive$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547~603490~-","WNT4"]
["WNT4","SERKAL syndrome","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs","Autosomal Recessive","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$SERKAL syndrome:Autosomal Recessive$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","Mullerian Aplasia and Hyperandrogenism:Autosomal Dominant$Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1547~603490~-","WNT4"]
["WNT5A","Robinow syndrome, Autosomal Dominant","Robinow syndrome","Autosomal Dominant","Robinow syndrome:Autosomal Dominant","Robinow syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7474[geneid]~-~164975~-","WNT5A"]
["WNT7A","Al-Awadi-Raas-Rothschild syndrome","Al Awadi syndrome","Autosomal Recessive","Fuhrmann syndrome:Autosomal Recessive$Al Awadi syndrome:Autosomal Recessive","Fuhrmann syndrome:Autosomal Recessive$Al Awadi syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7476[geneid]~-~601570~-","WNT7A"]
["WNT7A","Fuhrmann syndrome","Fuhrmann syndrome","Autosomal Recessive","Fuhrmann syndrome:Autosomal Recessive$Al Awadi syndrome:Autosomal Recessive","Fuhrmann syndrome:Autosomal Recessive$Al Awadi syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7476[geneid]~-~601570~-","WNT7A"]
["WNT7A","Ulnar and fibula absence, with severe limb deficiency","Al Awadi syndrome","Autosomal Recessive","Fuhrmann syndrome:Autosomal Recessive$Al Awadi syndrome:Autosomal Recessive","Fuhrmann syndrome:Autosomal Recessive$Al Awadi syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7476[geneid]~-~601570~-","WNT7A"]
["WNT8A","Breast cancer, non-BRCA1/BRCA2 related","Malignant tumor of breast","Risk",null,null,"HIGH","-~-~606360~-","WNT8A"]
["WRAP53","Dyskeratosis congenita","Dyskeratosis congenita","Autosomal Recessive","Dyskeratosis congenita:Autosomal Recessive","Dyskeratosis congenita:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55135[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK22301~612661~-","WRAP53"]
["WRN","Partial lipodystrophy with insulin resistance & adult progeria Werner syndrome","Partial lipodystrophy;Insulin resistance;Werner syndrome","Autosomal Recessive","Werner syndrome:Autosomal Recessive","Werner syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7486[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1514~604611~-","WRN"]
["WRN","Werner syndrome","Werner syndrome","Autosomal Recessive","Werner syndrome:Autosomal Recessive","Werner syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7486[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1514~604611~-","WRN"]
["WT1","46,XY disorder of sex development","46, XY Disorders of Sex Development","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Denys-Drash syndrome","Drash syndrome","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Diffuse mesangial sclerosis","Diffuse mesangial sclerosis","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Focal segmental glomerulosclerosis","Focal segmental glomerulosclerosis","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Frasier syndrome","Frasier syndrome","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Hypospadias","Hypospadias","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Meacham Syndrome","Meacham Syndrome","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Nephrotic syndrome","Nephrotic syndrome","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Nephrotic syndrome, steroid resistant","Steroid-resistant nephrotic syndrome","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Renal dysfunction & renal blastema","Renal dysfunction;Nodular renal blastema","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Ureteropelvic junction obstruction","Hydronephrosis with ureteropelvic junction obstruction","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Wilms tumour","Nephroblastoma","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Wilms tumour and nephropathy","Nephroblastoma;Nephropathy","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WT1","Wilms tumour, adult","Nephroblastoma","Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","Drash syndrome:Autosomal Dominant$Frasier syndrome:Autosomal Dominant$Meacham syndrome:Autosomal Dominant$Nephrotic syndrome:Autosomal Recessive$Nephroblastoma:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7490[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1294~607102~-","WT1"]
["WWC2","Restless legs syndrome","Restless legs","Risk",null,null,null,"-~-~-~-","WWC2"]
["WWC3","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","WWC3"]
["WWOX","Cancer","Squamous cell carcinoma of esophagus","Autosomal Dominant","Squamous cell carcinoma of esophagus:Autosomal Dominant","Squamous cell carcinoma of esophagus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51741[geneid]~-~605131~-","WWOX"]
["WWOX","Non-small-cell lung cancer","Small cell carcinoma of lung","Autosomal Dominant","Squamous cell carcinoma of esophagus:Autosomal Dominant","Squamous cell carcinoma of esophagus:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51741[geneid]~-~605131~-","WWOX"]
["XBP1","Reduced transactivating function","Major Affective Disorder 7","Risk","Major Affective Disorder 7:Risk","Major Affective Disorder 7:Risk","HIGH","-~-~194355~-","XBP1"]
["XDH","Hypertension","Essential hypertension","Autosomal Recessive","Deficiency of xanthine oxidase:Autosomal Recessive$Xanthinuria:Autosomal Recessive","Xanthinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7498[geneid]~-~607633~-","XDH"]
["XDH","Xanthinuria, type 1","Deficiency of xanthine oxidase","Autosomal Recessive","Deficiency of xanthine oxidase:Autosomal Recessive$Xanthinuria:Autosomal Recessive","Xanthinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7498[geneid]~-~607633~-","XDH"]
["XDH","XDH deficiency","Deficiency of xanthine oxidase","Autosomal Recessive","Deficiency of xanthine oxidase:Autosomal Recessive$Xanthinuria:Autosomal Recessive","Xanthinuria:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7498[geneid]~-~607633~-","XDH"]
["XIAP","Early onset, in Wilson disease","Wilson's disease","Modifier","Lymphoproliferative Syndrome, X-Linked, 2:X-linked Recessive$X-linked lymphoproliferative syndrome:X-linked Recessive","X-linked lymphoproliferative syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300079~-","XIAP"]
["XIAP","Immunodeficiency, X-linked","X-linked severe combined immunodeficiency","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 2:X-linked Recessive$X-linked lymphoproliferative syndrome:X-linked Recessive","X-linked lymphoproliferative syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300079~-","XIAP"]
["XIAP","Lymphoproliferative syndrome","Lymphoproliferative Syndrome, X-Linked, 2;X-linked lymphoproliferative syndrome","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 2:X-linked Recessive$X-linked lymphoproliferative syndrome:X-linked Recessive","X-linked lymphoproliferative syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300079~-","XIAP"]
["XIAP","Lymphoproliferative syndrome, X-linked type 2","Lymphoproliferative Syndrome, X-Linked, 2","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 2:X-linked Recessive$X-linked lymphoproliferative syndrome:X-linked Recessive","X-linked lymphoproliferative syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300079~-","XIAP"]
["XIAP","XIAP deficiency","Lymphoproliferative Syndrome, X-Linked, 2;X-linked lymphoproliferative syndrome","X-linked Recessive","Lymphoproliferative Syndrome, X-Linked, 2:X-linked Recessive$X-linked lymphoproliferative syndrome:X-linked Recessive","X-linked lymphoproliferative syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=331[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1406~300079~-","XIAP"]
["XIST","Short stature, dysmorphism, developmental delay","Short stature disorder;Dysmorphism;Developmental delay","X-linked Dominant","X Inactivation, Familial Skewed, 2:X-linked dominant","X Inactivation, Familial Skewed, 2:X-linked dominant","HIGH","-~-~314670~-","XIST"]
["XIST","X-chromosome inactivation, familial, skewed","X Inactivation, Familial Skewed, 2","X-linked Dominant","X Inactivation, Familial Skewed, 2:X-linked dominant","X Inactivation, Familial Skewed, 2:X-linked dominant","HIGH","-~-~314670~-","XIST"]
["XK","McLeod syndrome","Blood group deletion syndrome","X-linked Recessive","McLeod syndrome:X-linked Recessive$Blood group deletion syndrome:X-linked Recessive","Blood group deletion syndrome:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7504[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1354~314850~-","XK"]
["XPA","Improved adduct removal","NULL","no disease association PMID 15661657","NULL","NULL","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~611153~-","XPA"]
["XPA","Xeroderma pigmentosum ","Xeroderma pigmentosum, group A","Autosomal Recessive","Xeroderma pigmentosum, group A:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~611153~-","XPA"]
["XPC","Bladder cancer","Malignant tumor of urinary bladder","Autosomal Recessive","Xeroderma pigmentosum, group C:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~613208~-","XPC"]
["XPC","Xeroderma pigmentosum ","Xeroderma pigmentosum, group C","Autosomal Recessive","Xeroderma pigmentosum, group C:Autosomal Recessive$Xeroderma pigmentosum:Autosomal Recessive","Xeroderma pigmentosum:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1397~613208~-","XPC"]
["XPNPEP3","NPHP-like kidney disease","Nephronophthisis-like nephropathy 1;Kidney disease","Autosomal Recessive","Nephronophthisis-like nephropathy 1:Autosomal Recessive$Nephropathy:Autosomal Recessive","Nephropathy:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=63929[geneid]~-~613553~-","XPNPEP3"]
["XPO5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~607845~-","XPO5"]
["XRCC1","Altered level of single strand breaks","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~194360~-","XRCC1"]
["XRCC2","Breast cancer","Malignant tumor of breast","Autosomal Dominant","Malignant tumor of breast:Risk$Fanconi's anemia:Risk","Malignant tumor of breast:Risk$Fanconi's anemia:Risk","HIGH","-~-~600375~-","XRCC2"]
["XRCC2","Fanconi anaemia","Fanconi's anemia","Autosomal Recessive","Malignant tumor of breast:Risk$Fanconi's anemia:Risk","Malignant tumor of breast:Risk$Fanconi's anemia:Risk","HIGH","-~-~600375~-","XRCC2"]
["XRCC3","Mitomycin-C resistance","NULL","no disease association PMID 12668615","NULL","NULL","HIGH","-~-~600675~-","XRCC3"]
["XRCC3","XRCC3 deficiency","NULL","no disease association PMID 12668616","NULL","NULL","HIGH","-~-~600675~-","XRCC3"]
["YARS","Charcot-Marie-Tooth disease","Charcot-Marie-Tooth Disease, Dominant Intermediate C;Charcot-Marie-Tooth disease","Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant$Charcot-Marie-Tooth Disease, Dominant Intermediate C:Autosomal Dominant","Charcot-Marie-Tooth disease:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8565[geneid]~-~603623~-","YARS"]
["YARS2","MLASA syndrome","Myopathy, lactic acidosis, and sideroblastic anemia 2;Myopathy with lactic acidosis and sideroblastic anemia","Autosomal Recessive","Myopathy, lactic acidosis, and sideroblastic anemia 2:Autosomal Recessive","Myopathy, lactic acidosis, and sideroblastic anemia 2:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51067[geneid]~-~610957~-","YARS2"]
["YBX2","Male factor infertility","Male infertility","Risk",null,null,"HIGH","-~-~611447~-","YBX2"]
["YWHAE","Left ventricular noncompaction & hypoplasia of the corpus callosum","Left ventricular myocardial noncompaction cardiomyopathy;Hypoplasia of corpus callosum","Autosomal Dominant",null,null,"HIGH","-~-~605066~-","YWHAE"]
["YY1","Mental retardation","Mental retardation","Autosomal Dominant",null,null,"HIGH","-~-~600013~-","YY1"]
["ZAP70","CD8 deficiency","CD8 Deficiency, Familial","Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK20221~176947~-","ZAP70"]
["ZAP70","Immunodeficiency, late onset","Immunodeficiency disorder","Autosomal Dominant","Predominantly T-cell defect:Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK20221~176947~-","ZAP70"]
["ZAP70","Immunodeficiency, severe combined","Severe combined immunodeficiency disease","Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK20221~176947~-","ZAP70"]
["ZAP70","Immunodeficiency, T-cell defect","Immunodeficiency with predominant T-cell defect","Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK20221~176947~-","ZAP70"]
["ZAP70","ZAP70 deficiency","Predominantly T-cell defect","Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","Predominantly T-cell defect:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7535[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK20221~176947~-","ZAP70"]
["ZBTB16","Skeletal defects and genital hypoplasia","Skeletal Defects, Genital Hypoplasia, And Mental Retardation","Autosomal Recessive","Acute promyelocytic leukemia:Risk$Skeletal Defects, Genital Hypoplasia, And Mental Retardation:Autosomal Recessive","Acute promyelocytic leukemia:Risk$Skeletal Defects, Genital Hypoplasia, And Mental Retardation:Autosomal Recessive","HIGH","-~-~176797~-","ZBTB16"]
["ZBTB24","Immunodeficiency, centromeric instability and facial anomalies syndrome 2","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency","Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency:Autosomal Recessive","HIGH","-~-~614064~-","ZBTB24"]
["ZBTB40","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","-~-~612106~-","ZBTB40"]
["ZBTB41","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=360023[geneid]~-~-~-","ZBTB41"]
["ZC3H12B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300889~-","ZC3H12B"]
["ZC3H14","Autism spectrum disorder","Autistic Disorder","Risk","Intellectual disability:Autosomal Recessive","Intellectual disability:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79882[geneid]~-~613279~-","ZC3H14"]
["ZC3H14","Intellectual disability, nonsyndromic, Autosomal Recessive","Intellectual Disability","Autosomal Recessive","Intellectual disability:Autosomal Recessive","Intellectual disability:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=79882[geneid]~-~613279~-","ZC3H14"]
["ZC4H2","Arthrogryposis multiplex congenita","Wieacker syndrome","X-linked Recessive","Wieacker syndrome:X-linked Recessive","Wieacker syndrome:X-linked Recessive","HIGH","-~-~300897~-","ZC4H2"]
["ZCCHC12","Mental retardation","Mental retardation","X-linked Recessive","Mental retardation:X-linked","Mental retardation:X-linked","HIGH","-~-~300701~-","ZCCHC12"]
["ZCCHC16","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ZCCHC16"]
["ZCCHC8","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55596[geneid]~-~-~-","ZCCHC8"]
["ZDHHC9","Mental retardation, X-linked","Mental retardation, X-linked syndromic, Raymond type;Mental retardation","X-linked Recessive","Mental retardation, X-linked syndromic, Raymond type:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51114[geneid]~-~300646~-","ZDHHC9"]
["ZEB1","Corneal dystrophy, Fuchs late-onset","Fuchs' corneal dystrophy","Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Fuchs Endothelial, 6:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Posterior Polymorphous, 3:Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant","HIGH","-~-~189909~-","ZEB1"]
["ZEB1","Keratoconus","Keratoconus","Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Fuchs Endothelial, 6:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Posterior Polymorphous, 3:Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant","HIGH","-~-~189909~-","ZEB1"]
["ZEB1","Keratoconus & Fuchs endothelial corneal dystrophy","Keratoconus;Fuchs' corneal dystrophy","Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Fuchs Endothelial, 6:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Posterior Polymorphous, 3:Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant","HIGH","-~-~189909~-","ZEB1"]
["ZEB1","Posterior Polymorphous Corneal Dystrophy","Polymorphous corneal dystrophy","Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Fuchs Endothelial, 6:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant$Corneal Dystrophy, Posterior Polymorphous, 3:Autosomal Dominant","Fuchs' corneal dystrophy:Autosomal Dominant$Polymorphous corneal dystrophy:Autosomal Dominant","HIGH","-~-~189909~-","ZEB1"]
["ZEB2","Hirschsprung disease-mental retardation syndrome","Mowat-Wilson syndrome","Autosomal Dominant","Mowat-Wilson syndrome:Autosomal Dominant","Mowat-Wilson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9839[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1412~605802~-","ZEB2"]
["ZEB2","Hirschsprung disease-structural eye anomalies","Hirschsprung's disease;Coloboma of eye;Severe myopia","Autosomal Dominant","Mowat-Wilson syndrome:Autosomal Dominant","Mowat-Wilson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9839[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1412~605802~-","ZEB2"]
["ZEB2","Mowat-Wilson syndrome","Mowat-Wilson syndrome","Autosomal Dominant","Mowat-Wilson syndrome:Autosomal Dominant","Mowat-Wilson syndrome:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9839[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1412~605802~-","ZEB2"]
["ZFP14","Colorectal cancer","Colorectal Cancer","Risk",null,null,null,"-~-~-~-","ZFP14"]
["ZFP36","Altered herceptin treatment response","Drug Response","Pharmacogenetic","Drug response:Modifier","Drug response:Modifier","HIGH","-~-~190700~-","ZFP36"]
["ZFP36L1","Butyrate response factor 1 deficiency","NULL","No particular disorder associated","NULL","NULL","HIGH","-~-~601064~-","ZFP36L1"]
["ZFP57","Diabetes mellitus, transient neonatal","Diabetes Mellitus, Transient Neonatal, 1","Autosomal Recessive","Diabetes Mellitus, Transient Neonatal, 1:Autosomal Recessive$Transient neonatal diabetes mellitus:Autosomal Recessive","Transient neonatal diabetes mellitus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=346171[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1534~612192~-","ZFP57"]
["ZFP57","Hypomethylation of imprinted loci in transient neonatal diabetes","Diabetes Mellitus, Transient Neonatal, 1","Autosomal Recessive","Diabetes Mellitus, Transient Neonatal, 1:Autosomal Recessive$Transient neonatal diabetes mellitus:Autosomal Recessive","Transient neonatal diabetes mellitus:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=346171[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1534~612192~-","ZFP57"]
["ZFPL1","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ZFPL1"]
["ZFPM2","Diaphragmatic hernia, congenital","Diaphragmatic Hernia 3;Diaphragmatic hernia","Autosomal Dominant","Diaphragmatic Hernia 3:Autosomal Dominant$Diaphragmatic hernia:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Diaphragmatic hernia:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","-~-~603693~-","ZFPM2"]
["ZFPM2","Double outlet right ventricle","Double outlet right ventricle","Autosomal Dominant","Diaphragmatic Hernia 3:Autosomal Dominant$Diaphragmatic hernia:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Diaphragmatic hernia:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","-~-~603693~-","ZFPM2"]
["ZFPM2","Tetralogy of Fallot","Tetralogy of Fallot","Autosomal Dominant","Diaphragmatic Hernia 3:Autosomal Dominant$Diaphragmatic hernia:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","Diaphragmatic hernia:Autosomal Dominant$Tetralogy of Fallot:Autosomal Dominant","HIGH","-~-~603693~-","ZFPM2"]
["ZFYVE26","Autism","Autistic Disorder","Risk","Spastic paraplegia 15, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23503[geneid]~-~612012~-","ZFYVE26"]
["ZFYVE26","Parkinson disease, atypical juvenile","Atypical Parkinson Disease","Autosomal Recessive","Spastic paraplegia 15, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23503[geneid]~-~612012~-","ZFYVE26"]
["ZFYVE26","Spastic paraplegia","Spastic paraplegia 15, Autosomal Recessive;Spastic paraplegia","Autosomal Recessive","Spastic paraplegia 15, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23503[geneid]~-~612012~-","ZFYVE26"]
["ZFYVE26","Spastic paraplegia with thin corpus callosum","Spastic paraplegia 15, Autosomal Recessive;Spastic paraplegia","Autosomal Recessive","Spastic paraplegia 15, Autosomal Recessive:Autosomal Recessive$Spastic paraplegia:Autosomal Recessive","Spastic paraplegia:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23503[geneid]~-~612012~-","ZFYVE26"]
["ZFYVE27","Spastic paraplegia","Spastic Paraplegia 33, Autosomal Dominant;Spastic paraplegia","Autosomal Dominant","Spastic paraplegia:Autosomal Dominant$Spastic Paraplegia 33, Autosomal Dominant:Autosomal Dominant","Spastic paraplegia:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=118813[geneid]~-~610243~-","ZFYVE27"]
["ZIC2","Holoprosencephaly","Holoprosencephaly","Autosomal Dominant","Holoprosencephaly 5:Autosomal Dominant$Holoprosencephaly:Autosomal Dominant","Holoprosencephaly:Autosomal Dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7546[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1530~603073~-","ZIC2"]
["ZIC3","Cardiac malformation","Congenital anomaly of heart","X-linked Recessive","Heterotaxy, visceral, X-linked:X-linked Recessive$Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7547[geneid]~-~300265~-","ZIC3"]
["ZIC3","Heterotaxy","Situs ambiguus","X-linked Recessive","Heterotaxy, visceral, X-linked:X-linked Recessive$Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7547[geneid]~-~300265~-","ZIC3"]
["ZIC3","Situs abnormality","Situs ambiguus","X-linked Recessive","Heterotaxy, visceral, X-linked:X-linked Recessive$Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7547[geneid]~-~300265~-","ZIC3"]
["ZIC3","VACTERL association","VACTERL association","X-linked Recessive","Heterotaxy, visceral, X-linked:X-linked Recessive$Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","Congenital anomaly of heart:X-linked Recessive$Situs ambiguus:X-linked Recessive$VACTERL association:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7547[geneid]~-~300265~-","ZIC3"]
["ZKSCAN5","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~611272~-","ZKSCAN5"]
["ZMPSTE24","Hutchinson-Gilford progeria syndrome","Hutchinson-Gilford syndrome","Modifier","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10269[geneid]~-~606480~-","ZMPSTE24"]
["ZMPSTE24","Mandibuloacral dysplasia","Mandibuloacral dysplasia with type B lipodystrophy","Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10269[geneid]~-~606480~-","ZMPSTE24"]
["ZMPSTE24","Mandibuloacral dysplasia, early onset","Mandibuloacral dysplasia with type B lipodystrophy","Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10269[geneid]~-~606480~-","ZMPSTE24"]
["ZMPSTE24","Metabolic disease","Metabolic disease","Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10269[geneid]~-~606480~-","ZMPSTE24"]
["ZMPSTE24","Restrictive dermopathy","Lethal tight skin contracture syndrome","Autosomal Dominant","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10269[geneid]~-~606480~-","ZMPSTE24"]
["ZMPSTE24","Restrictive dermopathy","Lethal tight skin contracture syndrome","Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","Mandibuloacral dysplasia with type B lipodystrophy:Autosomal Recessive$Lethal tight skin contracture syndrome:Autosomal Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10269[geneid]~-~606480~-","ZMPSTE24"]
["ZMYM2","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~602221~-","ZMYM2"]
["ZMYM5","Colorectal cancer","Colorectal Cancer","Risk",null,null,null,"-~-~-~-","ZMYM5"]
["ZMYM6","Intellectual disability","Intellectual Disability","Risk",null,null,"HIGH","-~-~613567~-","ZMYM6"]
["ZMYND10","Primary ciliary dyskinesia","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~-~607070~-","ZMYND10"]
["ZMYND10","Situs inversus and congenital athyroid","Immotile cilia syndrome","Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","Immotile cilia syndrome:Autosomal Recessive","HIGH","-~-~607070~-","ZMYND10"]
["ZMYND11","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608668~-","ZMYND11"]
["ZNF141","Postaxial polydactyly type A","Polydactyly, Postaxial","Autosomal Recessive","Polydactyly, Postaxial:Autosomal Recessive","Polydactyly, Postaxial:Autosomal Recessive","HIGH","-~-~194648~-","ZNF141"]
["ZNF157","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~300024~-","ZNF157"]
["ZNF213","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~608387~-","ZNF213"]
["ZNF292","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23036[geneid]~-~-~-","ZNF292"]
["ZNF311","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=282890[geneid]~-~-~-","ZNF311"]
["ZNF335","Autism","Autistic Disorder","Risk","Primary microcephaly:Autosomal Recessive","Primary microcephaly:Autosomal Recessive","HIGH","-~-~610827~-","ZNF335"]
["ZNF335","Microcephaly","Microcephalus","Autosomal Recessive","Microcephalus:Autosomal Recessive","Microcephalus:Autosomal Recessive","HIGH","-~-~610827~-","ZNF335"]
["ZNF407","Intellectual disability and autism","Intellectual Disability;Autistic Disorder","Risk",null,null,null,"-~-~-~-","ZNF407"]
["ZNF408","Exudative vitreoretinopathy","Familial exudative vitreoretinopathy","Autosomal Dominant",null,null,null,"-~-~-~-","ZNF408"]
["ZNF41","Mental retardation","Mental Retardation, X-Linked 89;Mental retardation","X-linked Dominant","Mental Retardation, X-Linked 89:X-linked dominant$Mental retardation:X-linked dominant","Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7592[geneid]~-~314995~-","ZNF41"]
["ZNF420","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=147923[geneid]~-~-~-","ZNF420"]
["ZNF423","Joubert syndrome 19","Familial aplasia of the vermis","Autosomal Dominant","Familial aplasia of the vermis:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","HIGH","-~-~604557~-","ZNF423"]
["ZNF423","Nephronophthisis-related ciliopathy","Nephronophthisis","Autosomal Recessive","Familial aplasia of the vermis:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","Familial aplasia of the vermis:Autosomal Dominant$Nephronophthisis:Autosomal Recessive","HIGH","-~-~604557~-","ZNF423"]
["ZNF45","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~194554~-","ZNF45"]
["ZNF451","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26036[geneid]~-~-~-","ZNF451"]
["ZNF469","Brittle cornea syndrome","Corneal fragility keratoglobus, blue sclerae AND joint hypermobility","Autosomal Recessive","Corneal fragility keratoglobus, blue sclerae AND joint hypermobility:Autosomal Recessive","Corneal fragility keratoglobus, blue sclerae AND joint hypermobility:Autosomal Recessive","HIGH","-~-~612078~-","ZNF469"]
["ZNF513","Retinitis pigmentosa, Autosomal Recessive","Retinitis pigmentosa","Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","Retinitis pigmentosa:Autosomal Recessive","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1417~613598~-","ZNF513"]
["ZNF526","Intellectual disability","Intellectual Disability","Risk","Intellectual disability:Risk","Intellectual disability:Risk","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=116115[geneid]~-~614387~-","ZNF526"]
["ZNF592","CAMOS","Spinocerebellar ataxia, Autosomal Recessive 5","Autosomal Recessive","Spinocerebellar ataxia, Autosomal Recessive 5:Autosomal Recessive$Spinocerebellar ataxia:Autosomal Recessive","Spinocerebellar ataxia:Autosomal Recessive","HIGH","-~-~613624~-","ZNF592"]
["ZNF638","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~614349~-","ZNF638"]
["ZNF642","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ZNF642"]
["ZNF644","High myopia","Severe myopia","Autosomal Dominant","Severe myopia:Autosomal Dominant","Severe myopia:Autosomal Dominant","HIGH","-~-~614159~-","ZNF644"]
["ZNF644","Myopia","Myopia","Autosomal Dominant","Severe myopia:Autosomal Dominant","Severe myopia:Autosomal Dominant","HIGH","-~-~614159~-","ZNF644"]
["ZNF668","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ZNF668"]
["ZNF674","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked 92:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=641339[geneid]~-~300573~-","ZNF674"]
["ZNF683","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ZNF683"]
["ZNF711","Mental retardation, X-linked","Mental retardation","X-linked Recessive","Mental Retardation, X-Linked 97:X-linked Recessive$Mental retardation:X-linked Recessive","Mental retardation:X-linked Recessive","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7552[geneid]~-~314990~-","ZNF711"]
["ZNF750","Seborrhea-like dermatitis with psoriasiform elements","Seborrhea-Like Dermatitis with Psoriasiform Elements","Autosomal Dominant","Seborrhea-Like Dermatitis with Psoriasiform Elements:Autosomal Dominant","Seborrhea-Like Dermatitis with Psoriasiform Elements:Autosomal Dominant","HIGH","-~-~610226~-","ZNF750"]
["ZNF75D","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~314997~-","ZNF75D"]
["ZNF77","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~194551~-","ZNF77"]
["ZNF780B","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ZNF780B"]
["ZNF79","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk","HIGH","-~-~194552~-","ZNF79"]
["ZNF81","Mental retardation, X-linked","Mental retardation","X-linked Dominant","Mental Retardation, X-Linked 45:X-linked dominant$Mental retardation:X-linked dominant","Mental retardation:X-linked dominant","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=347344[geneid]~-~314998~-","ZNF81"]
["ZNF813","Autism","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"http://www.ncbi.nlm.nih.gov/gtr/tests/?term=126017[geneid]~-~-~-","ZNF813"]
["ZPBP","Teratozoospermia","Teratozoospermia","Autosomal Dominant",null,null,"HIGH","-~-~608498~-","ZPBP"]
["ZSCAN29","Autism spectrum disorder","Autistic Disorder","Risk","Autistic Disorder:Risk","Autistic Disorder:Risk",null,"-~-~-~-","ZSCAN29"]

{"sheet":"unstandardized","index":1,"n_rows":14322,"n_cols":3,"rows_kept":14322,"cut":false,"hidden":false,"merged":[]}
["CYP17A1","17 20-lyase deficiency"]
["CYB5A","17 20-lyase deficiency  isolated"]
["CYB5A","17-alpha-hydroxylase/17 20-lyase deficiency"]
["CYP17A1","17-alpha-hydroxylase/17 20-lyase deficiency"]
["KIAA1267","17q21.31 microdeletion syndrome"]
["CYP21A2","21-hydroxylase deficiency  intermediate form"]
["CYP21A2","21-hydroxylase deficiency  non-classical"]
["CYP21A2","21-hydroxylase deficiency  simple virilizing form"]
["CYP21A2","21-hydroxylase deficiency  with salt wasting"]
["CYP21A2","21-hydroxylase deficiency  without salt wasting"]
["CYP21A2","21-hydroxylase polymorphism"]
["CHD7","22q11.2 deletion syndrome"]
["HSD17B10","2-methyl-3-hydroxybutyric aciduria"]
["MCCC1","3 methylcrotonyl-coa carboxylase 1 deficiency"]
["AUH","3-methylglutaconic aciduria"]
["SERAC1","3-methylglutaconic aciduria  impaired oxphos  deafness  encephalopathy  dystonia & leigh-like syndrome"]
["SERAC1","3-methylglutaconic aciduria  sensorineural deafness  hepatopathy  encephalopathy & leigh syndrome"]
["DNAJC19","3-methylglutaconic aciduria type v"]
["OPA3","3-methylglutaconicaciduria  type iii"]
["SRD5A2","3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency"]
["AR","46 xy complete androgen insensitivity"]
["CYB5A","46 xy disorder of sex development"]
["GATA4","46 xy disorder of sex development"]
["MAMLD1","46 xy disorder of sex development"]
["NR5A1","46 xy disorder of sex development"]
["SRY","46 xy disorder of sex development"]
["WT1","46 xy disorder of sex development"]
["NR5A1","46 xy disorder of sex development with anxiety/depression"]
["SRY","46 xy disorder of sex development with bilateral gonadoblastoma"]
["SRY","46 xy gonadal dysgenesis"]
["NR5A1","46 xy sex reversal & asplenia"]
["DHH","46,xy gonadal dysgenesis, complete, dhh-related"]
["SRY","46,xy sex reversal, type 1"]
["NR5A1","46,xy sex reversal, type 3"]
["CBX2","46,xy sex reversal, type 5"]
["SRY","46,xy true hermaphroditism, sry-related"]
["HPD","4-hydroxyphenylpyruvate dioxygenase deficiency"]
["OPLAH","5-oxoprolinase deficiency"]
["PUF60","8q24.3 deletion syndrome"]
["SAA1","aa amyloidosis  association with"]
["ABCA3","abca3 deficiency"]
["CNR1","abdominal adiposity in obese men  association with"]
["ABCC6","abdominal aortic aneurysm"]
["TIMP1","abdominal aortic aneurysm  female  association"]
["LRP1","abdominal aortic aneurysm  increased risk"]
["TIMP2","abdominal aortic aneurysm  male  association"]
["SLC26A4","abolished ion transport activity"]
["PRKACA","abrogated kinase activity"]
["SLC2A1","absence epilepsy  early-onset"]
["CASP1","absent enzyme activity"]
["ADCY10","absorptive hypercalciuria  association with"]
["SLC4A1","acanthocytosis due to band 3 ht"]
["ARX","acc  epilepsy  abnormal genitalia"]
["ARX","acc  infantile spasms & abnormal genitalia"]
["ARX","acc  lissencephaly  seizures & genital hypoplasia"]
["ARX","acc  mental retardation  epilepsy & dyskinetic quadriparesis"]
["KLB","accelerated colonic transit in irritable bowel syndrome  association"]
["CP","aceruloplasminaemia with parkinsonism"]
["ALDH2","acetaldehyde dehydrogenase deficiency  association"]
["KIT","achalasia  association with"]
["AAAS","achalasia-alacrima syndrome"]
["COL2A1","achondrogenesis type 2"]
["FGFR3","achondroplasia, severe, with developmental delay and acanthosis nigricans"]
["PDE6C","achromatopsia  autosomal recessive"]
["PDE6H","achromatopsia  autosomal recessive incomplete"]
["PDE6C","achromatopsia 5"]
["PDE6H","achromatopsia 6"]
["GAA","acid alpha-glucosidase, allele 2"]
["GAA","acid alpha-glucosidase, allele 4"]
["ACP1","acid phosphatase 1, soluble, a/b polymorphism of"]
["IGFALS","acid-labile subunit deficiency  partial"]
["NCSTN","acne inversa  familial"]
["PSEN1","acne inversa  familial"]
["PSENEN","acne inversa  familial"]
["IL4R","acquired immunodeficiency syndrome, slow progression to"]
["ALG10B","acquired long qt syndrome  protection against  association"]
["KCNQ1","acquired susceptibility to long qt syndrome 1"]
["KIT","acral melanoma  increased risk  association with"]
["RAB23","acrocephalopolysyndactyly  type ii"]
["COL3A1","acrogeria  gottron"]
["BMPR1B","acromesomelic chondrodysplasia  genital anomalies"]
["NPR2","acromesomelic dysplasia  maroteaux type"]
["NPR2","acromesomelic dysplasia maroteaux type"]
["CRH","acth deficiency"]
["TBX19","acth deficiency  isolated"]
["MC2R","acth resistance"]
["GNAS","acth-independent macronodular adrenal hyperplasia, somatic"]
["CPB2","acute coronary syndrome  association with"]
["GAS6","acute coronary syndrome  reduced risk  association with"]
["SCN2A","acute encephalitis with refractory  repetitive partial seizures"]
["NFE2L2","acute lung injury  association with"]
["MYLK","acute lung injury  in major trauma  association with"]
["IRAK3","acute lung injury  in sepsis  association with"]
["PAX5","acute lymphoblastic leukaemia"]
["ABCB1","acute lymphoblastic leukaemia  association with"]
["ATF5","acute lymphoblastic leukaemia  association with"]
["RAD50","acute lymphoblastic leukaemia  association with"]
["IRF4","acute lymphoblastic leukaemia  in males  association with"]
["FANCD2","acute lymphoblastic leukaemia  t-cell with severe chemosensitivity"]
["JAK3","acute myeloid leukaemia  association with"]
["SPI1","acute myeloid leukaemia  association with"]
["FAS","acute myeloid leukaemia  increased risk  association with"]
["TYK2","acute myeloid leukaemia  reduced risk  association with"]
["CD33","acute myeloid leukaemia  relapse  increased risk"]
["EPOR","acute myeloid leukemia, m6 type"]
["OLR1","acute myocardial infarction  association with"]
["GBA","acute neuronopathic gaucher's disease"]
["IL8RA","acute pyelonephritis  association with"]
["TLR4","acute pyelonephritis  in children  association with"]
["TLR4","acute pyelonephritis  reduced risk in adults  association with"]
["VEGFA","acute rejection  association with"]
["PI3","acute respiratory distress syndrome  association with"]
["SFTPB","acute respiratory distress syndrome  association with"]
["TBXA2R","acute urticaria  aspirin-intolerant  association"]
["ACADL","acyl-coa dehydrogenase  long chain deficiency"]
["ACAD9","acyl-coa dehydrogenase family, member 9, deficiency of"]
["AER61","adams-oliver syndrome"]
["C3orf64","adams-oliver syndrome"]
["EOGT","adams-oliver syndrome 4"]
["EGFR","adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic"]
["BRAF","adenocarcinoma of lung, somatic"]
["ERBB2","adenocarcinoma of lung, somatic"]
["RAD54L","adenocarcinoma, colonic, somatic"]
["CYP21A2","adenoma, cortisol-producing"]
["MUTYH","adenomatous polyposis  attenuated/muir-torre synd"]
["APC","adenomatous polyposis coli  association with"]
["APC","adenomatous polyposis coli  attenuated"]
["MUTYH","adenomatous polyposis coli  attenuated"]
["APC","adenomatous polyposis coli with congenital cholesteatoma"]
["APC","adenomatous polyposis coli, susceptibility to"]
["ADA","adenosine deaminase 2 allozyme"]
["AK1","adenylate kinase deficiency, hemolytic anemia due to"]
["AHSG","adipocyte insulin action  association with"]
["LIPC","adiposity  severe"]
["MTNR1B","adolescent idiopathic scoliosis  association with"]
["MEN1","adrenal adenoma, somatic"]
["GNAI2","adrenal cortical tumor, somatic"]
["NR5A1","adrenal disease  association with"]
["STAR","adrenal failure  neonatal"]
["MCM4","adrenal failure  short stature & natural killer cell deficiency"]
["NR0B1","adrenal failure without enzymatic defects"]
["STAR","adrenal failure without enzymatic defects"]
["NR5A1","adrenal hyperplasia  congenital lipoid"]
["NR0B1","adrenal hypoplasia  late-onset"]
["MC2R","adrenal hypoplasia  salt-losing"]
["STAR","adrenal insufficiency & 46 xy complete sex reversal"]
["CYP11A1","adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete"]
["TP53","adrenocortical carcinoma  childhood"]
["TP53","adrenocortical carcinoma, pediatric"]
["NR5A1","adrenocortical insufficiency"]
["ABCD1","adrenoleukodystrophy  x-linked"]
["TNC","adult asthma  association with"]
["FAM154A","adult height  association with"]
["KIF18A","adult height  association with"]
["TSSC4","adult height  association with"]
["ALPL","adult hypophosphatasia"]
["GCNT2","adult i blood group with or without congenital cataract"]
["UBR5","adult myoclonic epilepsy  familial"]
["CLN6","adult neuronal ceroid lipofuscinosis"]
["APTX","adult onset ataxia with oculomotor apraxia"]
["GBE1","adult polyglucosan body disease"]
["AMACR","advanced distal colorectal adenoma  increased risk  association"]
["BCL10","advanced germ cell tumors  association with"]
["IL10","advanced liver disease in drinkers  association"]
["PER2","advanced sleep phase syndrome, familial"]
["CSNK1D","advanced sleep phase syndrome, familial, 2"]
["DCP1","adverse cardiovascular outcome in hypertension  association with"]
["FGA","afibrinogenaemia / hypofibrinogenaemia"]
["FGB","afibrinogenaemia / hypofibrinogenaemia"]
["FGG","afibrinogenaemia / hypofibrinogenaemia"]
["CFI","afibrinogenemia"]
["FGA","afibrinogenemia, congenital"]
["FGB","afibrinogenemia, congenital"]
["IGLL1","agammaglobulinaemia  autosomal recessive"]
["BTK","agammaglobulinaemia  x-linked"]
["IGLL1","agammaglobulinemia 2, autosomal recessive"]
["CD79B","agammaglobulinemia 6, autosomal recessive"]
["NRTN","aganglionosis  in hirschsprung disease"]
["PSPN","aganglionosis  in hirschsprung disease"]
["RET","aganglionosis  total colonic"]
["CFI","age related macular degeneration  association with"]
["ARD1A","aged appearance & cardiac arrhythmias  lethal  x-linked"]
["DISC1","agenesis of corpus callosum"]
["C3","age-related macular degeneration  association with"]
["CFI","age-related macular degeneration  association with"]
["CST3","age-related macular degeneration 11"]
["CX3CR1","age-related macular degeneration 12"]
["C2","age-related macular degeneration 14"]
["CFB","age-related macular degeneration 14"]
["FBLN5","age-related macular degeneration 3"]
["CFH","age-related macular degeneration 4"]
["ERCC6","age-related macular degeneration 5"]
["RAX2","age-related macular degeneration 6"]
["HTRA1","age-related macular degeneration 7"]
["ARMS2","age-related macular degeneration 8"]
["ELOVL4","age-related maculopathy  association with"]
["KL","age-related phenotypes  association with"]
["HTR1B","aggressive behaviour  association with"]
["FCAR","aggressive periodontitis  reduced risk  assoc with"]
["TREX1","aicardi goutieres syndrome 1"]
["TREX1","aicardi goutieres syndrome 1, autosomal dominant"]
["RNASEH2B","aicardi goutieres syndrome 2"]
["RNASEH2C","aicardi goutieres syndrome 3"]
["RNASEH2A","aicardi goutieres syndrome 4"]
["SAMHD1","aicardi goutieres syndrome 5"]
["ADAR","aicardi-goutires syndrome"]
["RNASEH2A","aicardi-goutires syndrome"]
["RNASEH2B","aicardi-goutires syndrome"]
["RNASEH2C","aicardi-goutires syndrome"]
["SAMHD1","aicardi-goutires syndrome"]
["TREX1","aicardi-goutires syndrome"]
["PPIA","aids  progression  association with"]
["CCRL2","aids & pneumocystis pneumonia  association with"]
["IL8RA","aids progression  protection  association with"]
["PARD3B","aids progression  protection  association with"]
["PPARGC1B","airway hyperreactivity  in asthma  association with"]
["KCNS3","airway hyperresponsiveness  association with"]
["NFKBIA","airway hyperresponsiveness after viral infection  association with"]
["DNM2","akinesia  joint contractures  hypotonia  skeletal abnormalities & brain/retinal haemorrhages"]
["JAG1","alagille syndrome 1"]
["C10orf11","albinism  autosomal recessive"]
["GPR143","albinism  ocular"]
["OCA2","albinism  ocular"]
["HPS6","albinism  oculocutaneous"]
["OCA2","albinism  oculocutaneous"]
["SLC24A5","albinism  oculocutaneous"]
["SLC45A2","albinism  oculocutaneous"]
["TYR","albinism  oculocutaneous"]
["TYRP1","albinism  oculocutaneous"]
["TYR","albinism  oculocutaneous 1"]
["TYR","albinism  oculocutaneous 1  association with"]
["TYR","albinism  oculocutaneous 1a"]
["TYR","albinism  oculocutaneous 1b"]
["TYRP1","albinism  oculocutaneous 3"]
["OCA2","albinism  oculocutaneous ii"]
["TYRP1","albinism, oculocutaneous, type ii, modifier of"]
["GNAS","albright hereditary osteodystrophy  association with"]
["ALB","albumin adana"]
["ALB","albumin asola"]
["ALB","albumin b"]
["ALB","albumin bazzano"]
["ALB","albumin birmingham"]
["ALB","albumin blenheim"]
["ALB","albumin bremen"]
["ALB","albumin casebrook"]
["ALB","albumin caserta"]
["ALB","albumin castel di sangro"]
["ALB","albumin catania"]
["ALB","albumin coari 1"]
["ALB","albumin cooperstown"]
["ALB","albumin dublin"]
["ALB","albumin fukuoka 1"]
["ALB","albumin fukuoka 2"]
["ALB","albumin ge/ct"]
["ALB","albumin ghent"]
["ALB","albumin hawkes bay"]
["ALB","albumin herborn"]
["ALB","albumin hiroshima 1"]
["ALB","albumin hiroshima 2"]
["ALB","albumin honolulu 1"]
["ALB","albumin honolulu 2"]
["ALB","albumin iowa city 1"]
["ALB","albumin iowa city 2"]
["ALB","albumin komagome 2"]
["ALB","albumin lambadi"]
["ALB","albumin larino"]
["ALB","albumin lille"]
["ALB","albumin maku"]
["ALB","albumin malmo 10"]
["ALB","albumin malmo 47"]
["ALB","albumin malmo 5"]
["ALB","albumin malmo 95"]
["ALB","albumin manaus-1"]
["ALB","albumin mersin"]
["ALB","albumin mexico 1"]
["ALB","albumin mexico 2"]
["ALB","albumin milano fast"]
["ALB","albumin nagano"]
["ALB","albumin nagasaki 1"]
["ALB","albumin nagasaki 2"]
["ALB","albumin nagoya"]
["ALB","albumin naskapi"]
["ALB","albumin new guinea"]
["ALB","albumin niigata"]
["ALB","albumin oliphant"]
["ALB","albumin oriximina-1"]
["ALB","albumin ortonovo"]
["ALB","albumin osaka 1"]
["ALB","albumin osaka 2"]
["ALB","albumin parklands"]
["ALB","albumin phnom penh"]
["ALB","albumin porto alegre 1"]
["ALB","albumin porto alegre 2"]
["ALB","albumin redhill"]
["ALB","albumin roma"]
["ALB","albumin rugby park"]
["ALB","albumin sondria"]
["ALB","albumin tagliacozzo"]
["ALB","albumin taipei"]
["ALB","albumin tochigi"]
["ALB","albumin torino"]
["ALB","albumin tradate 2"]
["ALB","albumin vancouver"]
["ALB","albumin varese"]
["ALB","albumin verona b"]
["ALB","albumin vibo valentia"]
["ALB","albumin yanomama 2"]
["CUBN","albuminuria  association with"]
["ALDH2","alcohol dependence"]
["CHRNA3","alcohol dependence  association with"]
["DRD2","alcohol dependence  association with"]
["GABRR2","alcohol dependence  association with"]
["HTR1B","alcohol dependence  association with"]
["SERINC2","alcohol dependence  association with"]
["SLC29A1","alcohol dependence  association with"]
["TAS2R16","alcohol dependence  risk  association with"]
["TAS2R16","alcohol dependence, susceptibility to"]
["ALDH2","alcohol sensitivity, acute"]
["TH","alcoholism  association with"]
["ADH1C","alcoholism  increased risk  association with"]
["SIGMAR1","alcoholism  protection against  association with"]
["GABRA2","alcoholism, susceptibility to"]
["ALDH9A1","aldh9a1*2 polymorphism"]
["CYP11B2","aldosterone synthase deficiency  type 1"]
["CYP11B2","aldosterone synthase deficiency  type 2"]
["KCNJ5","aldosteronism  early-onset"]
["NQO1","ali after major trauma  reduced risk  association with"]
["ALPP","alkaline phosphatase, placental, allele-3 polymorphism"]
["LTC4S","allergic diseases  association with"]
["HAVCR1","allergic diseases  susceptibility  association with"]
["IL2","allergic disorders  association with"]
["TLR10","allergic rhinitis  reduced risk  association with"]
["IL13","allergic rhinitis, susceptibility to"]
["ICOS","allergic sensitisation  association with"]
["PTGDR","allergy to pollen and mites  association with"]
["ABCC9","allhighlypenetrant"]
["ACTA2","allhighlypenetrant"]
["ACTC1","allhighlypenetrant"]
["ACTG1","allhighlypenetrant"]
["ACTN2","allhighlypenetrant"]
["ANKRD1","allhighlypenetrant"]
["APC","allhighlypenetrant"]
["ATP6V1B1","allhighlypenetrant"]
["BAG3","allhighlypenetrant"]
["BRAF","allhighlypenetrant"]
["BSND","allhighlypenetrant"]
["CASQ2","allhighlypenetrant"]
["CAV3","allhighlypenetrant"]
["CBL","allhighlypenetrant"]
["CCDC50","allhighlypenetrant"]
["CDH23","allhighlypenetrant"]
["CFTR","allhighlypenetrant"]
["CLDN14","allhighlypenetrant"]
["CLRN1","allhighlypenetrant"]
["COCH","allhighlypenetrant"]
["COL11A2","allhighlypenetrant"]
["CRYAB","allhighlypenetrant"]
["CRYM","allhighlypenetrant"]
["CSRP3","allhighlypenetrant"]
["CTF1","allhighlypenetrant"]
["DES","allhighlypenetrant"]
["DFNA5","allhighlypenetrant"]
["DFNB31","allhighlypenetrant"]
["DFNB59","allhighlypenetrant"]
["DIAPH1","allhighlypenetrant"]
["DSC2","allhighlypenetrant"]
["DSG2","allhighlypenetrant"]
["DSP","allhighlypenetrant"]
["DTNA","allhighlypenetrant"]
["EDA","allhighlypenetrant"]
["EGFR","allhighlypenetrant"]
["ELN","allhighlypenetrant"]
["EMD","allhighlypenetrant"]
["ERBB2","allhighlypenetrant"]
["ESRRB","allhighlypenetrant"]
["EYA1","allhighlypenetrant"]
["EYA4","allhighlypenetrant"]
["FBN1","allhighlypenetrant"]
["FHL2","allhighlypenetrant"]
["GATA4","allhighlypenetrant"]
["GATAD1","allhighlypenetrant"]
["GIPC3","allhighlypenetrant"]
["GJB2","allhighlypenetrant"]
["GJB3","allhighlypenetrant"]
["GJB6","allhighlypenetrant"]
["GLA","allhighlypenetrant"]
["GPR98","allhighlypenetrant"]
["GPSM2","allhighlypenetrant"]
["GRHL2","allhighlypenetrant"]
["GRXCR1","allhighlypenetrant"]
["HGF","allhighlypenetrant"]
["HOPX","allhighlypenetrant"]
["HRAS","allhighlypenetrant"]
["ILDR1","allhighlypenetrant"]
["JAG1","allhighlypenetrant"]
["JUP","allhighlypenetrant"]
["KCNE1","allhighlypenetrant"]
["KCNQ1","allhighlypenetrant"]
["KCNQ4","allhighlypenetrant"]
["KRAS","allhighlypenetrant"]
["LAMA4","allhighlypenetrant"]
["LAMP2","allhighlypenetrant"]
["LDB3","allhighlypenetrant"]
["LMNA","allhighlypenetrant"]
["LOXHD1","allhighlypenetrant"]
["LRTOMT","allhighlypenetrant"]
["MAP2K1","allhighlypenetrant"]
["MAP2K2","allhighlypenetrant"]
["MARVELD2","allhighlypenetrant"]
["MLH1","allhighlypenetrant"]
["MSH2","allhighlypenetrant"]
["MSH6","allhighlypenetrant"]
["MSRB3","allhighlypenetrant"]
["MYBPC3","allhighlypenetrant"]
["MYH14","allhighlypenetrant"]
["MYH6","allhighlypenetrant"]
["MYH7","allhighlypenetrant"]
["MYH9","allhighlypenetrant"]
["MYL2","allhighlypenetrant"]
["MYL3","allhighlypenetrant"]
["MYLK2","allhighlypenetrant"]
["MYO15A","allhighlypenetrant"]
["MYO1A","allhighlypenetrant"]
["MYO3A","allhighlypenetrant"]
["MYO6","allhighlypenetrant"]
["MYO7A","allhighlypenetrant"]
["MYOZ2","allhighlypenetrant"]
["MYPN","allhighlypenetrant"]
["NEBL","allhighlypenetrant"]
["NEXN","allhighlypenetrant"]
["NKX2-5","allhighlypenetrant"]
["NRAS","allhighlypenetrant"]
["OTOA","allhighlypenetrant"]
["OTOF","allhighlypenetrant"]
["PCDH15","allhighlypenetrant"]
["PDZD7","allhighlypenetrant"]
["PIK3CA","allhighlypenetrant"]
["PKP2","allhighlypenetrant"]
["PLN","allhighlypenetrant"]
["POU3F4","allhighlypenetrant"]
["POU4F3","allhighlypenetrant"]
["PRKAG2","allhighlypenetrant"]
["PTPN11","allhighlypenetrant"]
["RAF1","allhighlypenetrant"]
["RBM20","allhighlypenetrant"]
["RDX","allhighlypenetrant"]
["RET","allhighlypenetrant"]
["RYR2","allhighlypenetrant"]
["SCN5A","allhighlypenetrant"]
["SDHB","allhighlypenetrant"]
["SDHD","allhighlypenetrant"]
["SERPINB6","allhighlypenetrant"]
["SGCD","allhighlypenetrant"]
["SHOC2","allhighlypenetrant"]
["SLC17A8","allhighlypenetrant"]
["SLC26A4","allhighlypenetrant"]
["SLC26A5","allhighlypenetrant"]
["SOS1","allhighlypenetrant"]
["SPRED1","allhighlypenetrant"]
["TAZ","allhighlypenetrant"]
["TCAP","allhighlypenetrant"]
["TECTA","allhighlypenetrant"]
["TGFBR1","allhighlypenetrant"]
["TGFBR2","allhighlypenetrant"]
["TIMM8A","allhighlypenetrant"]
["TJP2","allhighlypenetrant"]
["TMC1","allhighlypenetrant"]
["TMEM127","allhighlypenetrant"]
["TMEM43","allhighlypenetrant"]
["TMIE","allhighlypenetrant"]
["TMPO","allhighlypenetrant"]
["TMPRSS3","allhighlypenetrant"]
["TNNC1","allhighlypenetrant"]
["TNNI3","allhighlypenetrant"]
["TNNT2","allhighlypenetrant"]
["TP53","allhighlypenetrant"]
["TPM1","allhighlypenetrant"]
["TPRN","allhighlypenetrant"]
["TRIOBP","allhighlypenetrant"]
["TTN","allhighlypenetrant"]
["TTR","allhighlypenetrant"]
["USH1C","allhighlypenetrant"]
["USH1G","allhighlypenetrant"]
["USH2A","allhighlypenetrant"]
["VCL","allhighlypenetrant"]
["VHL","allhighlypenetrant"]
["WFS1","allhighlypenetrant"]
["ITGA2B","alloimmune thrombocytopenia  fetomaternal"]
["ITGA2B","alloimmune thrombocytopenia  neonatal"]
["ITGB3","alloimmune thrombocytopenia  neonatal"]
["TAS2R43","aloin and saccharin taste sensitivity  association"]
["RBM28","alopecia  neurological defects and endocrinopathy syndrome"]
["IL1RN","alopecia areata  association with"]
["AIRE","alopecia universalis  association with"]
["NOTCH4","alopecia universalis  association with"]
["HR","alopecia universalis congenita"]
["HBA2","alpha thalassemia"]
["HBB","alpha thalassemia"]
["ADRA2A","alpha-2a adrenergic receptor, overexpression  or type 2 diabetes susceptibility"]
["A2M","alpha-2-macroglobulin polymorphism"]
["HBA2","alpha-plus-thalassemia"]
["ATRX","alpha-thalassemia myelodysplasia syndrome, somatic"]
["HBA2","alpha-thalassemia, dutch type"]
["HBA2","alpha-thalassemia-2, nondeletional"]
["COL4A5","alport syndrome  x-linked"]
["COL4A3","alport syndrome, autosomal dominant"]
["COL4A3","alport syndrome, autosomal recessive"]
["COL4A4","alport syndrome, autosomal recessive"]
["COL4A5","alport syndrome, x-linked recessive"]
["ALPP","alpp*3"]
["ALMS1","alstrom syndrome"]
["CYP2B6","altered"]
["OPN1LW","altered absorption spectrum"]
["CDKN1A","altered activity"]
["CYB5R3","altered activity"]
["CYP2A6","altered activity"]
["CYP3A4","altered activity"]
["GPBAR1","altered activity"]
["GRK4","altered activity"]
["KIR2DL1","altered activity"]
["MTRR","altered activity"]
["SLC34A1","altered activity"]
["TLR3","altered activity"]
["TP53","altered activity"]
["TLR3","altered activity  association with"]
["XPNPEP2","altered aminopeptidase p activity"]
["NR1I2","altered basal and/or induced transactivation  association"]
["BCMO1","altered beta-carotene metabolism  association with"]
["OPRM1","altered beta-endorphin binding  association with"]
["APOB","altered binding affinity"]
["CFB","altered binding affinity"]
["CYP1A2","altered catalytic activity"]
["CYP2C19","altered catalytic activity"]
["TBXAS1","altered catalytic activity"]
["CETP","altered cetp activity"]
["KCNA5","altered channel function"]
["RYR2","altered channel function"]
["C4BPA","altered cofactor function"]
["CD46","altered cofactor function"]
["CRP","altered crp levels"]
["CYP2B","altered cyp2b6 expression"]
["TGFB1","altered dna-protein complex formation"]
["MSH5","altered double-strand break repair"]
["CCKBR","altered drug efficacy  association with"]
["AANAT","altered enzyme activity"]
["ASMT","altered enzyme activity"]
["CBS","altered enzyme activity"]
["COMT","altered enzyme activity"]
["CYP26A1","altered enzyme activity"]
["CYP2B6","altered enzyme activity"]
["CYP3A7","altered enzyme activity"]
["FTO","altered enzyme activity"]
["GSTO1","altered enzyme activity"]
["GSTZ1","altered enzyme activity"]
["HVCN1","altered enzyme activity"]
["MGMT","altered enzyme activity"]
["NR1I3","altered enzyme activity"]
["OGG1","altered enzyme activity"]
["POR","altered enzyme activity"]
["UGT1A3","altered enzyme activity"]
["UGT1A6","altered enzyme activity"]
["UGT2A1","altered enzyme activity"]
["CYP11B1","altered enzyme function"]
["AFF2","altered expression"]
["CFTR","altered expression"]
["FCGR2A","altered expression"]
["FXN","altered expression"]
["NPAS2","altered expression"]
["LRP1","altered factor viii activity"]
["BRCA2","altered function"]
["CACNA1A","altered function"]
["CKB","altered function"]
["ClC-2","altered function"]
["CLCN2","altered function"]
["FCN3","altered function"]
["GSTT1","altered function"]
["P2RX7","altered function"]
["UTF1","altered function"]
["F5","altered fv1/fv2 ratio"]
["BHMT","altered gene expression"]
["ESR1","altered gene expression"]
["F3","altered gene expression"]
["IL6","altered gene expression"]
["UGT2B15","altered gene expression in liver"]
["NR3C1","altered glucocorticoid sensitivity"]
["LIG3","altered level of single strand breaks"]
["RPA4","altered level of single strand breaks"]
["XRCC1","altered level of single strand breaks"]
["CTNND2","altered localisation"]
["SOD3","altered lung function  association with"]
["PRDM9","altered meiotic recombination hotspot usage"]
["SPRY3","altered meiotic recombination hotspot usage"]
["HNF4A","altered micro-rna binding"]
["XIAP","altered micro-rna binding"]
["CBR1","altered mirna mediated expression"]
["KIT","altered mirna target gene mrna duplex conformation"]
["HLA-G","altered mirna targeting  association with"]
["MFN2","altered mitochondrial dynamics"]
["UGT2B7","altered mrna expression"]
["AARS","altered mrna folding"]
["RPA1","altered mrna folding"]
["MYH11","altered myosin contractile function"]
["ADAR2g","altered p53 binding"]
["EOMES","altered p53 binding"]
["SLC22A12","altered p53 binding"]
["DCC","altered p53 transactivation"]
["PIK3CG","altered platelet volume"]
["BRCA1","altered promoter activity"]
["BTC","altered promoter activity"]
["CST3","altered promoter activity"]
["DLD","altered promoter activity"]
["ERCC1","altered promoter activity"]
["FCN2","altered promoter activity"]
["GABRA1","altered promoter activity"]
["GSTA1","altered promoter activity"]
["HNRNPH3","altered promoter activity"]
["HSPA1B","altered promoter activity"]
["KCNJ15","altered promoter activity"]
["KIAA0513","altered promoter activity"]
["KIR3DL1","altered promoter activity"]
["MDH1","altered promoter activity"]
["MMP3","altered promoter activity"]
["PCSK1","altered promoter activity"]
["PTPRCAP","altered promoter activity"]
["SERPINF1","altered promoter activity"]
["STAR","altered promoter activity"]
["TF","altered promoter activity"]
["UGT2B7","altered promoter activity"]
["FTL","altered protein folding"]
["KLK3","altered psa level"]
["OR4X1","altered pulmonary function  association with"]
["MTNR1A","altered receptor function"]
["NPBWR1","altered receptor function"]
["FCGR2A","altered receptor signalling"]
["NID1","altered recombination frequency"]
["AKR1C2","altered reductase activity"]
["MSH5","altered response to dsb-inducing agents"]
["FLT1","altered response to p53"]
["HLA-DRB1","altered specificity"]
["PRM1","altered sperm morphology  association with"]
["AMACR","altered splicing"]
["ATP5SL","altered splicing"]
["HMGCR","altered splicing"]
["KRT31","altered splicing"]
["NEIL1","altered splicing"]
["PARP2","altered splicing"]
["RPTOR","altered splicing"]
["CD33","altered splicing efficiency"]
["CYP11B2","altered steroid production"]
["CYP4F12","altered substrate specificity"]
["SLC13A2","altered substrate specificity"]
["SLC10A1","altered substrate uptake"]
["CD207","altered sugar binding activity"]
["CYP2E1","altered targeting efficiency"]
["ADM","altered transcriptional activity"]
["AKT1","altered transcriptional activity"]
["ALOX15","altered transcriptional activity"]
["FCER2","altered transcriptional activity"]
["GNAI2","altered transcriptional activity"]
["HLA-DMB","altered transcriptional activity"]
["HMGCR","altered transcriptional activity"]
["IL6","altered transcriptional activity"]
["PDYN","altered transcriptional activity"]
["PICK1","altered transcriptional activity"]
["SEL1L","altered transcriptional activity"]
["SPP1","altered transcriptional activity"]
["TP53","altered transcriptional activity"]
["ESR1","altered transcriptional regulation"]
["POU5F1","altered translation"]
["EGFR","altered transmembrane signaling"]
["ABCB1","altered transport activity"]
["ABCC2","altered transport activity"]
["OATP","altered transport activity"]
["SLC47A1","altered transport activity"]
["SLCO1B1","altered transport activity"]
["ACSM2B","altered triglyceride level"]
["VWF","altered vwf antigen/fviii coagulant activity"]
["ATP1A3","alternating hemiplegia of childhood 2"]
["FOXF1","alveolar capillary dysplasia with misalignment of pulmonary veins"]
["LYZ","alys amyloidosis  systemic"]
["NEDD9","alzheimer and parkinson disease  association with"]
["CALHM1","alzheimer disease"]
["PSENEN","alzheimer disease"]
["VCP","alzheimer disease"]
["A2M","alzheimer disease  association with"]
["APH1A","alzheimer disease  association with"]
["APP","alzheimer disease  association with"]
["ATP7B","alzheimer disease  association with"]
["BDNF","alzheimer disease  association with"]
["BLMH","alzheimer disease  association with"]
["CHAT","alzheimer disease  association with"]
["CLU","alzheimer disease  association with"]
["CTSD","alzheimer disease  association with"]
["CYP46A1","alzheimer disease  association with"]
["GSK3B","alzheimer disease  association with"]
["IL6R","alzheimer disease  association with"]
["MAPK8IP1","alzheimer disease  association with"]
["MAPT","alzheimer disease  association with"]
["MME","alzheimer disease  association with"]
["MS4A6E","alzheimer disease  association with"]
["NCSTN","alzheimer disease  association with"]
["OTC","alzheimer disease  association with"]
["PICALM","alzheimer disease  association with"]
["PIN1","alzheimer disease  association with"]
["PSEN1","alzheimer disease  association with"]
["SERPINA3","alzheimer disease  association with"]
["SORL1","alzheimer disease  association with"]
["TF","alzheimer disease  association with"]
["PSEN1","alzheimer disease  ataxic variant"]
["PSEN2","alzheimer disease  atypical"]
["PIN1","alzheimer disease  delayed onset  association with"]
["PSEN1","alzheimer disease  early onset"]
["PSEN2","alzheimer disease  early onset"]
["SORL1","alzheimer disease  early onset"]
["PSEN1","alzheimer disease  early onset & presenile dementia"]
["PSEN1","alzheimer disease  early onset & spastic paraparesis"]
["PSEN1","alzheimer disease  early-onset"]
["APBB3","alzheimer disease  early-onset  decreased risk  association"]
["APOE","alzheimer disease  increased risk"]
["GRN","alzheimer disease  increased risk"]
["TREM2","alzheimer disease  increased risk"]
["MPO","alzheimer disease  increased risk  association"]
["APOE","alzheimer disease  increased risk  association with"]
["BACE1","alzheimer disease  increased risk  association with"]
["CALHM1","alzheimer disease  increased risk  association with"]
["CD33","alzheimer disease  increased risk  association with"]
["CTNNA3","alzheimer disease  increased risk  association with"]
["CYP19A1","alzheimer disease  increased risk  association with"]
["GRIN2B","alzheimer disease  increased risk  association with"]
["LRP2","alzheimer disease  increased risk  association with"]
["MS4A6A","alzheimer disease  increased risk  association with"]
["ADAM10","alzheimer disease  late onset"]
["DAPK1","alzheimer disease  late onset  association with"]
["PLAU","alzheimer disease  late onset  protection against"]
["ABCA7","alzheimer disease  late-onset  association with"]
["ACAN","alzheimer disease  late-onset  association with"]
["GALP","alzheimer disease  late-onset  association with"]
["LRP6","alzheimer disease  late-onset  association with"]
["MYH13","alzheimer disease  late-onset  association with"]
["PGBD1","alzheimer disease  late-onset  association with"]
["TOMM40","alzheimer disease  late-onset  association with"]
["TRAK2","alzheimer disease  late-onset  association with"]
["IDE","alzheimer disease  late-onset  decreased risk"]
["TFAM","alzheimer disease  late-onset  reduced risk  association with"]
["APP","alzheimer disease  protection against"]
["TFCP2","alzheimer disease  protection against  association"]
["ADAM9","alzheimer disease  reduced risk  association with"]
["ARMS2","alzheimer disease  reduced risk  association with"]
["OLR1","alzheimer disease  reduced risk  association with"]
["SERPINA3","alzheimer disease  reduced risk  association with"]
["BDNF","alzheimer disease  sporadic late onset  association with"]
["APOE","alzheimer disease  susceptibility to  association with"]
["APOE","alzheimer disease 2, due to apoe4 isoform"]
["PSENEN","alzheimer disease in e4 carriers  association"]
["PRNP","alzheimer disease, early-onset, susceptibility to"]
["PSEN1","alzheimer disease, familial, 3, with spastic paraparesis and apraxia"]
["PSEN1","alzheimer disease, familial, 3, with unusual plaques"]
["PSEN1","alzheimer disease, familial, with spastic paraparesis and unusual plaques"]
["NOS3","alzheimer disease, late-onset, susceptibility to"]
["A2M","alzheimer disease, susceptibility to"]
["HFE","alzheimer disease, susceptibility to"]
["TF","alzheimer disease, susceptibility to"]
["VEGFA","alzheimer disease, susceptibility to"]
["APP","alzheimer disease, type 1"]
["PSEN1","alzheimer disease, type 3"]
["PSEN1","alzheimer disease, type 4"]
["PSEN2","alzheimer disease, type 4"]
["CYP19A1","alzheimer's  in apoe4 carriers  increased risk  association"]
["GAB2","alzheimer's  in apoe4 carriers  increased risk  association"]
["NRG1","alzheimers disease  association with"]
["ABCA1","alzheimer's disease  association with"]
["LRP1","alzheimer's disease  association with"]
["FGF1","alzheimer's disease  increased risk  association with"]
["ECE1","ambulatory blood pressure  association with"]
["WNK1","ambulatory blood pressure variation  association with"]
["MPL","amegakaryocytic thrombocytopaenia  congenital"]
["ENAM","amelogenesis imperfecta  autosomal dominant"]
["LAMB3","amelogenesis imperfecta  autosomal dominant"]
["FAM83H","amelogenesis imperfecta  hypocalcified"]
["ENAM","amelogenesis imperfecta  hypoplastic"]
["ENAM","amelogenesis imperfecta - hypoplastic autosomal dominant - local"]
["FAM83H","amelogenesis imperfecta  hypoplastic local"]
["KLK4","amelogenesis imperfecta pigmented hypomaturation type"]
["C4orf26","amelogenesis imperfecta, hypomaturation type, iia4"]
["AMELX","amelogenesis imperfecta, type ie"]
["FAM83H","amelogenesis imperfecta, type iii, localized"]
["ACY1","aminoacylase 1 deficiency"]
["DHTKD1","aminoadipic aciduria"]
["ALAD","aminolevulinate dehydratase, alad*1/alad*2 polymorphism"]
["XPNPEP2","aminopeptidase p  reduced activity"]
["CEBPA","aml - acute myeloid leukemia"]
["TTR","amyloid cardiomyopathy, transthyretin-related"]
["APOA1","amyloid polyneuropathy-nephropathy, iowa type"]
["TTR","amyloidogenic transthyretin amyloidosis"]
["TTR","amyloidosis  cardiac"]
["TTR","amyloidosis  cardiac  late-onset"]
["APOA1","amyloidosis  cardiac and cutaneous"]
["APOA1","amyloidosis  cardiac and systemic"]
["TTR","amyloidosis  meningocerebrovascular"]
["TTR","amyloidosis  modifier of"]
["TTR","amyloidosis  oculoleptomeningeal"]
["IL31RA","amyloidosis  primary cutaneous"]
["OSMR","amyloidosis  primary cutaneous"]
["APOA2","amyloidosis  renal"]
["FGA","amyloidosis  renal"]
["LYZ","amyloidosis  renal"]
["MEFV","amyloidosis  renal  association with"]
["B2M","amyloidosis  systemic"]
["LYZ","amyloidosis  systemic"]
["TTR","amyloidosis  transthyretin"]
["APOA1","amyloidosis iv, formerly"]
["GSN","amyloidosis, familial, finnish type"]
["TTR","amyloidosis, hereditary, transthyretin-related, modifier of"]
["TTR","amyloidosis, leptomeningeal, transthyretin-related"]
["APOA1","amyloidosis, van allen type"]
["KIAA1840","amyotrophic lateral sclerosis"]
["RGNEF","amyotrophic lateral sclerosis"]
["SMA","amyotrophic lateral sclerosis"]
["SPG11","amyotrophic lateral sclerosis"]
["ANG","amyotrophic lateral sclerosis  association with"]
["APEX1","amyotrophic lateral sclerosis  association with"]
["CHGB","amyotrophic lateral sclerosis  association with"]
["DPYSL3","amyotrophic lateral sclerosis  association with"]
["TARDBP","amyotrophic lateral sclerosis  association with"]
["TARDBP","amyotrophic lateral sclerosis  flail arm variant"]
["ALAD","amyotrophic lateral sclerosis  increased risk  association with"]
["KIAA1840","amyotrophic lateral sclerosis  juvenile"]
["SIGMAR1","amyotrophic lateral sclerosis  juvenile"]
["FUS","amyotrophic lateral sclerosis  juvenile with basophilic inclusion"]
["ANG","amyotrophic lateral sclerosis  modifier of"]
["CHMP2B","amyotrophic lateral sclerosis  pma variant"]
["EPHA4","amyotrophic lateral sclerosis  reduced disease severity"]
["ZNF512B","amyotrophic lateral sclerosis  susceptibility to"]
["SOD1","amyotrophic lateral sclerosis 1, autosomal recessive"]
["VCP","amyotrophic lateral sclerosis 14 without frontotemporal dementia"]
["VCP","amyotrophic lateral sclerosis 14, with or without frontotemporal dementia"]
["CHMP2B","amyotrophic lateral sclerosis 17"]
["PFN1","amyotrophic lateral sclerosis 18"]
["SETX","amyotrophic lateral sclerosis 4  juvenile"]
["VEGFA","amyotrophic lateral sclerosis in males, susceptibility to"]
["SOD1","amyotrophic lateral sclerosis type 1"]
["TARDBP","amyotrophic lateral sclerosis type 10"]
["FIG4","amyotrophic lateral sclerosis type 11"]
["OPTN","amyotrophic lateral sclerosis type 12"]
["ERBB4","amyotrophic lateral sclerosis type 19"]
["ALS2","amyotrophic lateral sclerosis type 2"]
["SETX","amyotrophic lateral sclerosis type 4"]
["FUS","amyotrophic lateral sclerosis type 6"]
["VAPB","amyotrophic lateral sclerosis type 8"]
["ANG","amyotrophic lateral sclerosis type 9"]
["DCTN1","amyotrophic lateral sclerosis, susceptibility to"]
["PRPH","amyotrophic lateral sclerosis, susceptibility to"]
["VAPB","amyotrophic lateral sclerosis, typical"]
["TRPM7","amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to"]
["SEC23B","anaemia  dyserythropoietic congenital  type ii"]
["KIF23","anaemia  dyserythropoietic congenital  type iii"]
["REN","anaemia  hyperuricaemia and chronic kidney disease"]
["STEAP3","anaemia  hypochromic"]
["HBB","anaemia  hypochromic microcytic"]
["SLC11A2","anaemia  hypochromic microcytic"]
["REN","anaemia  hypouricosuric hyperuricaemia and kidney failure"]
["ALB","analbuminemia, american indian type"]
["NLRP3","anaphylaxis  food-induced  association with"]
["FCGR2A","anaphylaxis  in hypogammaglobulinaemia  association with"]
["IL10","anca-negative churg-strauss syndrome  association"]
["AR","androgen insensitivity syndrome  partial"]
["AR","androgen insensitivity, complete"]
["AR","androgen insensitivity, partial, with breast cancer"]
["MC2R","androgen secretion  association with"]
["AR","androgenetic alopecia  reduced risk  association with"]
["ABCB7","anemia sideroblastic and spinocerebellar ataxia"]
["CDAN1","anemia, congenital dyserythropoietic, type i"]
["KLF1","anemia, dyserythropoietic congenital, type iv"]
["ALAS2","anemia, hereditary sideroblastic, late-onset"]
["ALAS2","anemia, hereditary sideroblastic, pyridoxine refractory"]
["SPTB","anemia, neonatal hemolytic, fatal and near-fatal"]
["G6PD","anemia, nonsepherocytic hemolytic, due to g6pd deficiency"]
["G6PD","anemia, nonspherocytic hemolytic, due to g6pd deficiency"]
["GLRX5","anemia, sideroblastic, pyridoxine-refractory, autosomal recessive"]
["SLC25A38","anemia, sideroblastic, pyridoxine-refractory, autosomal recessive"]
["F12","angioedema  hereditary"]
["SERPING1","angioedema  hereditary"]
["MEN1","angiofibroma, somatic"]
["ABCC6","angioid streaks"]
["ABCC6","angioid streaks  macular dysfunction and generalised retinal involvement"]
["COL4A1","angiopathy  nephropathy  aneurysms & muscle cramps"]
["ACE","angiotensin i-converting enzyme, benign serum increase"]
["IKBKG","anhidrotic ectodermal dysplasia with immune deficiency"]
["PAX6","aniridia, atypical"]
["PAX6","aniridia, cerebellar ataxia, and mental retardation"]
["CARD9","ankylosing spondylitis  association with"]
["ERAP1","ankylosing spondylitis  association with"]
["PSMD7","ankylosing spondylitis  association with"]
["SNAPC4","ankylosing spondylitis  association with"]
["MICA","ankylosing spondylitis  early onset  association with"]
["ERAP1","ankylosing spondylitis  reduced risk  association with"]
["GDF6","anophthalmia  bilateral"]
["OTX2","anophthalmia  bilateral"]
["VSX2","anophthalmia  bilateral"]
["SOX2","anophthalmia  hearing loss and brain abnormalities"]
["NR5A1","anorchia  bilateral"]
["POMC","anorexia nervosa"]
["GPR55","anorexia nervosa  association with"]
["HTR2A","anorexia nervosa  association with"]
["OPRD1","anorexia nervosa  association with"]
["BDNF","anorexia nervosa 2"]
["PROK2","anosmia  isolated congenital"]
["EYA1","anterior segment anomalies"]
["EYA1","anterior segment anomalies and cataract"]
["FOXC1","anterior segment defect  with glaucoma"]
["ANTXR2","anthrax toxin sensitivity  association with"]
["AIF1","anticentromere antibody positive systemic sclerosis  association"]
["SERPINA3","antichymotrypsin bochum 1"]
["SERPINA3","antichymotrypsin bonn 1"]
["SERPINA3","antichymotrypsin isehara 1"]
["SERPINA3","antichymotrypsin signal peptide polymorphism"]
["SLC6A11","antiepileptic drug pharmacoresistance  association with"]
["ERMAP","antigen in scianna blood group system"]
["AMH","anti-mullerian hormone bruxelles"]
["APOH","antiphospholipid syndrome  association with"]
["SERPINF2","anti-plasmin deficiency, congenital"]
["SERPINC1","antithrombin deficiency  type 1"]
["SERPINA1","'antithrombin' pittsburgh"]
["SERPINA1","antitrypsin m2 variant"]
["POR","antley-bixler syndrome with genital anomalies and disordered steroidogenesis"]
["FGFR2","antley-bixler syndrome without genital anomalies or disordered steroidogenesis"]
["NGF","anxiety-related traits  gender-dependent  association with"]
["MYH11","aortic aneurysm  familial thoracic 4"]
["FBN1","aortic aneurysm  thoracic"]
["TGFBR1","aortic aneurysm  thoracic"]
["TGFBR2","aortic aneurysm  thoracic"]
["ACTA2","aortic aneurysm, familial thoracic 6"]
["PRKG1","aortic aneurysm, familial thoracic 8"]
["TGFBR3","aortic dilation"]
["NOTCH1","aortic valve stenosis  tricuspid  calcific"]
["FOXE3","aphakia  congenital  primary"]
["GRN","aphasia  progressive nonfluent"]
["MAPT","aphasia  progressive nonfluent"]
["GRN","aphasia  progressive semantic"]
["PRNP","aphasia, primary progressive, susceptibility to"]
["SRP72","aplastic anaemia / myelodysplasia"]
["PRF1","aplastic anemia"]
["PRF1","aplastic anemia, susceptibility to"]
["SBDS","aplastic anemia, susceptibility to"]
["BCHE","apnea, postanesthetic, due to bche, atypical-1"]
["ABCC11","apocrine gland secretion, variation in"]
["APOE","apoe kyoto"]
["APOE","apoe sendai"]
["APOE","apoe2 isoforms"]
["APOE","apoe2 variant"]
["APOE","apoe2-dunedin"]
["APOE","apoe3"]
["APOE","apoe3 variant"]
["APOE","apoe3-washington"]
["APOE","apoe4"]
["APOE","apoe4 variant"]
["APOH","apoh polymorphism"]
["APOA4","apolipoprotein a4 variant"]
["APOA1","apolipoprotein a-i"]
["APOA4","apolipoprotein a-iv polymorphism, apoa4*1/apoa4*2"]
["APOA4","apolipoprotein a-iv rare variant, apoa4*3"]
["APOC2","apolipoprotein c-ii"]
["APOC2","apolipoprotein c-ii variant"]
["APOC3","apolipoprotein c-iii, nonglycosylated"]
["APOH","apolipoprotein h deficiency  association with"]
["APOE","apolipoproteinemia e1"]
["GZMB","apoptosis  unable to induce  association with"]
["HSD11B2","apparent mineralocorticoid excess, mild"]
["APRT","aprt deficiency"]
["APRT","aprt deficiency, japanese type"]
["AQP1","aquaporin 1 deficiency"]
["CDA","ara-c resistance  association with"]
["CDA","ara-c sensitivity  association with"]
["GATM","arginine glycine amidinotransferase deficiency"]
["ASL","argininosuccinate lyase deficiency  variant"]
["KCNE3","arrhythmia"]
["SCN5A","arrhythmia  lidocaine-induced"]
["FLNC","arrhythmia & myofibrillar myopathy  late-onset"]
["DSP","arrhythmogenic right ventricular cardiomyopathy"]
["RYR2","arrhythmogenic right ventricular cardiomyopathy  association with"]
["DSG2","arrhythmogenic right ventricular cardiomyopathy, type 10"]
["DSC2","arrhythmogenic right ventricular cardiomyopathy, type 11"]
["RYR2","arrhythmogenic right ventricular cardiomyopathy, type 2"]
["TMEM43","arrhythmogenic right ventricular cardiomyopathy, type 5"]
["DSP","arrhythmogenic right ventricular cardiomyopathy, type 8"]
["PKP2","arrhythmogenic right ventricular cardiomyopathy, type 9"]
["DSC2","arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair"]
["MCM5","ars121-specific minichromosome retention"]
["NT5E","arterial & joint calcifications  symptomatic"]
["MMP9","arterial stiffness  association with"]
["PRF1","arthritis  juvenile"]
["IL20","arthritis  systemic juvenile idiopathic  association with"]
["ECEL1","arthrogryposis  distal"]
["MYH3","arthrogryposis  distal  type 1"]
["MYH3","arthrogryposis  distal  type 2a"]
["MYH3","arthrogryposis  distal  type 2b"]
["C18orf30","arthrogryposis  distal  type 5"]
["FAM38B","arthrogryposis  distal  type 5"]
["ECEL1","arthrogryposis  distal  type 5d"]
["MYH3","arthrogryposis  distal 2b & myosin myopathy"]
["C14orf133","arthrogryposis  renal dysfunction and cholestasis"]
["VPS33B","arthrogryposis  renal dysfunction and cholestasis"]
["GLE1","arthrogryposis & hypoplasia"]
["TPM2","arthrogryposis multiplex congenita distal type 1"]
["VIPAS39","arthrogryposis, renal dysfunction, and cholestasis 2"]
["ARSA","arylsulfatase a polymorphism"]
["ARSA","arylsulfatase a pseudodeficiency"]
["ARSA","arylsulfatase a, allele a"]
["ARSA","arylsulphatase a pseudodeficiency  association"]
["AGA","aspartylglucosaminuria, finnish type"]
["AGA","aspartylglycosaminuria"]
["NLGN3","asperger syndrome x-linked 1"]
["S100B","aspergillosis in stem cell transplant recipients  association with"]
["CLEC7A","aspergillosis, susceptibility to"]
["IFT172","asphyxiating thoracic dystrophy"]
["IFT172","asphyxiating thoracic dystrophy/joubert syndrome"]
["CCR3","aspirin-exacerbated respiratory disease  association with"]
["RPSA","asplenia  isolated congenital"]
["TEKT2","asthenozoospermia  non-syndromic"]
["IL12B","asthma  allergic  association with"]
["TBX21","asthma  aspirin-induced  association with"]
["MS4A2","asthma  aspirin-intolerant"]
["CEP68","asthma  aspirin-intolerant  association with"]
["LTC4S","asthma  aspirin-intolerant  association with"]
["SLC6A12","asthma  aspirin-intolerant  association with"]
["STK10","asthma  aspirin-intolerant  reduced risk"]
["PTGER2","asthma  asprin-intolerant  association with"]
["CCL26","asthma  association with"]
["CD86","asthma  association with"]
["CTLA4","asthma  association with"]
["CYSLTR1","asthma  association with"]
["HLX","asthma  association with"]
["IL13","asthma  association with"]
["MYLK","asthma  association with"]
["ORMDL3","asthma  association with"]
["PTGDR","asthma  association with"]
["SPINK5","asthma  association with"]
["TLR2","asthma  association with"]
["ZPBP2","asthma  association with"]
["CCL7","asthma  atopic  association with"]
["CHIA","asthma  atopic  association with"]
["IL21","asthma  atopic  association with"]
["IL4R","asthma  atopic  association with"]
["LTA","asthma  atopic  association with"]
["MMP9","asthma  atopic  association with"]
["MS4A2","asthma  atopic  association with"]
["NFKBIA","asthma  atopic  protection  association with"]
["CHIA","asthma  bronchial  association with"]
["TLR6","asthma  decreased risk  association with"]
["TRPV1","asthma  decreased risk  association with"]
["S1PR1","asthma  in european americans  association with"]
["CSF1R","asthma  increased risk  association with"]
["FRMD6","asthma  increased risk  association with"]
["GSDMA","asthma  increased risk  association with"]
["GSDMB","asthma  increased risk  association with"]
["IL4R","asthma  increased risk  association with"]
["ITK","asthma  increased risk  association with"]
["SCGB1A1","asthma  increased risk  association with"]
["SCGB3A2","asthma  increased risk  association with"]
["ADRB2","asthma  nocturnal  association with"]
["IRAK3","asthma  predisposition to"]
["CAT","asthma  protection against  association with"]
["CHIA","asthma  protection against  association with"]
["IL17RB","asthma  protection against  association with"]
["IL17F","asthma  reduced risk  association with"]
["PDCD4","asthma  severe"]
["S1PR1","asthma  severe  in african americans  association with"]
["CHI3L1","asthma  susceptibility to  association with"]
["HAVCR1","asthma  susceptibility to  association with"]
["PLA2G7","asthma and atopy  association with"]
["PLA2G7","asthma and atopy, susceptibility to"]
["KCNMB1","asthma severity in males  association with"]
["IL4R","asthma, atopic"]
["HNMT","asthma, susceptibility to"]
["IL13","asthma, susceptibility to"]
["IL4R","asthma, susceptibility to"]
["SPINK5","asthma, susceptibility to"]
["NPSR1","asthma-related traits, susceptibility to, 2"]
["IRAK3","asthma-related traits, susceptibility to, 5"]
["NF1","astrocytoma  pilocytic"]
["BRAF","astrocytoma, low-grade, somatic"]
["CA8","ataxia  cerebellar hypoplasia"]
["SACS","ataxia  early-onset"]
["APTX","ataxia  early-onset  with ocular motor apraxia & hypoalbuminaemia"]
["POLG","ataxia  epilepsy & cataract"]
["TTPA","ataxia  isolated vitamin e deficiency"]
["TTPA","ataxia  isolated vitamin e deficiency & retinitis pigmentosa"]
["CACNA1A","ataxia  mental retardation and dyskinesia"]
["KIAA0226","ataxia  recessive"]
["FAM36A","ataxia and muscle hypotonia"]
["TTPA","ataxia and retinitis pigmentosa with isolated vitamin e deficiency"]
["ATM","ataxia telangiectasia  atypical"]
["ATM","ataxia telangiectasia  late-onset variant"]
["ATM","ataxia telangiectasia  mild"]
["ATM","ataxia telangiectasia  variant"]
["SETX","ataxia with oculomotor apraxia"]
["TTPA","ataxia, friedreich-like, with isolated vitamin e deficiency"]
["MTPAP","ataxia, spastic, 4, autosomal recessive"]
["SETX","ataxia-ocular apraxia 2  atypical"]
["ATM","ataxia-telangiectasia variant"]
["ATM","ataxia-telangiectasia without immunodeficiency"]
["MRE11A","ataxia-telangiectasia-like disorder"]
["GH1","ateleiotic dwarfism"]
["FLNB","atelosteogenesis type 1"]
["FLNB","atelosteogenesis type 3"]
["HOXA1","athabaskan brainstem dysgenesis syndrome  abds"]
["GJA4","atherosclerosis  association with"]
["SELE","atherosclerosis  association with"]
["ZNF202","atherosclerosis  association with"]
["LMNA","atherosclerosis  diabetes mellitus & steatosis hepatis"]
["APH1B","atherosclerosis  in males  association with"]
["PCSK9","atherosclerosis  severity  association with"]
["TNFSF4","atherosclerosis  susceptibility  association with"]
["VEGFA","atherosclerosis, susceptibility to"]
["CXCL16","atherosclerotic stenosis  increased severity  association with"]
["IRAK1","atherothrombotic cerebral infarction  association with"]
["ARHGEF10","atherothrombotic stroke  increased risk  association with"]
["NAT2","atopic asthma  association with"]
["INPP4A","atopic asthma  reduced risk  association with"]
["MS4A2","atopic asthma, susceptibility to"]
["CCL5","atopic dermatitis  association with"]
["COL29A1","atopic dermatitis  association with"]
["FCER1A","atopic dermatitis  association with"]
["IL12RB1","atopic dermatitis  association with"]
["IL4R","atopic dermatitis  association with"]
["IRF2","atopic dermatitis  association with"]
["PHF11","atopic dermatitis  childhood  association with"]
["IL9","atopic dermatitis  increased susceptibility  assoc with"]
["CSTA","atopic dermatitis  reduced risk  association with"]
["IL12B","atopic dermatitis and psoriasis vulgaris  susceptibility  association"]
["MS4A2","atopy"]
["CYSLTR1","atopy  association with"]
["CYSLTR2","atopy  association with"]
["F2RL1","atopy  association with"]
["IL4R","atopy  association with"]
["MS4A2","atopy  association with"]
["SART1","atopy  association with"]
["SELP","atopy  increased risk  association with"]
["SPINK5","atopy  maternally inherited  association with"]
["IL4R","atopy  reduced risk  association with"]
["IL4R","atopy, resistance to"]
["IL4R","atopy, susceptibility to"]
["SELP","atopy, susceptibility to"]
["SPINK5","atopy, susceptibility to"]
["CYP7A1","atorvastatin response  association with"]
["TF","atransferrinemia"]
["HCN4","atrial fibrillation"]
["JPH2","atrial fibrillation"]
["AGTR1","atrial fibrillation  association with"]
["GJA5","atrial fibrillation  association with"]
["KCNE4","atrial fibrillation  association with"]
["KCNH2","atrial fibrillation  association with"]
["KCNE1","atrial fibrillation  early-onset"]
["KCNE3","atrial fibrillation  familial"]
["SCN1B","atrial fibrillation  increased susceptibility"]
["KCND3","atrial fibrillation  lone  early-onset"]
["KCNQ1","atrial fibrillation  susceptibility to"]
["SCN10A","atrial fibrillation & slow ventricular rates"]
["KCNQ1","atrial fibrillation and bradycardia"]
["SCN5A","atrial fibrillation, familial, 10"]
["SCN1B","atrial fibrillation, familial, 13"]
["SCN2B","atrial fibrillation, familial, 14"]
["KCNJ2","atrial fibrillation, familial, 9"]
["PRKAR1A","atrial myxoma, familial"]
["ACTC1","atrial septal defect 5"]
["NKX2-5","atrial septal defect 7 with or without atrioventricular conduction defects"]
["NKX2-5","atrial septal defect with atrioventricular conduction defects, somatic"]
["TBX20","atrial septal defects  patent foramen ovale & cardiac valve defec"]
["GJA5","atrial standstill  association with"]
["SCN5A","atrioventricular block  idiopathic"]
["COL6A1","atrioventricular septal defect  down-syndrome-associated"]
["COL6A2","atrioventricular septal defect  down-syndrome-associated"]
["COL6A3","atrioventricular septal defect  down-syndrome-associated"]
["CRELD2","atrioventricular septal defect  down-syndrome-associated"]
["FBLN2","atrioventricular septal defect  down-syndrome-associated"]
["FRZB","atrioventricular septal defect  down-syndrome-associated"]
["GATA5","atrioventricular septal defect  down-syndrome-associated"]
["CRELD1","atrioventricular septal defect 2"]
["GATA4","atrioventricular septal defect 4"]
["GJA1","atrioventricular septal defect and common atrioventricular junction"]
["NKX2-5","atrioventricular septal defect, somatic"]
["ATRX","atr-x syndrome"]
["ATRX","atrx syndrome  atypical"]
["STS","attention deficit hyperactivity disorder  association with"]
["TPH2","attention deficit-hyperactivity disorder 7"]
["SLC6A3","attention-deficit hyperactivity disorder  association"]
["DRD4","attention-deficit hyperactivity disorder  association with"]
["SLC6A2","attention-deficit hyperactivity disorder  association with"]
["PIK3CB","attenuated insulin resistance in obese children  association with"]
["BAAT","atypical hemolytic-uremic syndrome 1"]
["CFH","atypical hemolytic-uremic syndrome 1"]
["CD46","atypical hemolytic-uremic syndrome 2"]
["CFI","atypical hemolytic-uremic syndrome 3"]
["CFB","atypical hemolytic-uremic syndrome 4"]
["C3","atypical hemolytic-uremic syndrome 5"]
["THBD","atypical hemolytic-uremic syndrome 6"]
["IFNGR1","atypical mycobacterial infection, disseminated familial"]
["CPOX","atypical porphyrinogenic response to mercury  association with"]
["MECP2","atypical rett syndrome"]
["GRIN2A","atypical rolandic epilepsy  absence epilepsy"]
["GRIN2A","atypical rolandic epilepsy  verbal dyspraxia"]
["BCAM","auberger blood group polymorphism au"]
["OTOF","auditory neuropathy  temperature-sensitive"]
["OTOF","auditory neuropathy, autosomal recessive, 1"]
["TSHZ1","aural atresia  congenital"]
["GNAI3","auriculocondylar syndrome 1"]
["PLCB4","auriculocondylar syndrome 2"]
["BRUNOL6","autism"]
["FREQ","autism"]
["IKIP","autism"]
["L3MBTL","autism"]
["PCDHA13","autism"]
["PIWIL4","autism"]
["ST3GAL6","autism"]
["GABRB3","autism  association with"]
["GLO1","autism  association with"]
["HTR3C","autism  association with"]
["HTR5A","autism  association with"]
["LAMB1","autism  association with"]
["MET","autism  association with"]
["NRP2","autism  association with"]
["SEZ6L2","autism  association with"]
["SLC6A4","autism  association with"]
["TAF1C","autism  association with"]
["TDO2","autism  association with"]
["KCNJ10","autism  seizures & intellectual disability"]
["CNTNAP2","autism 15"]
["SLC9A9","autism 16"]
["ACTR3B","autism spectrum disorder"]
["ANK3","autism spectrum disorder"]
["ARL6IP6","autism spectrum disorder"]
["ATP1B4","autism spectrum disorder"]
["BCORL1","autism spectrum disorder"]
["C12orf64","autism spectrum disorder"]
["C17orf57","autism spectrum disorder"]
["C20orf71","autism spectrum disorder"]
["CCL26","autism spectrum disorder"]
["CHD2","autism spectrum disorder"]
["CHD7","autism spectrum disorder"]
["CNTN4","autism spectrum disorder"]
["DKFZp761I1011","autism spectrum disorder"]
["DNMT3A","autism spectrum disorder"]
["FLJ35220","autism spectrum disorder"]
["GPR81","autism spectrum disorder"]
["HTR3A","autism spectrum disorder"]
["ITIH5L","autism spectrum disorder"]
["KIAA1679","autism spectrum disorder"]
["KIAA1977","autism spectrum disorder"]
["MGC26733","autism spectrum disorder"]
["NESG1","autism spectrum disorder"]
["PRICKLE2","autism spectrum disorder"]
["WDSOF1","autism spectrum disorder"]
["ASMT","autism spectrum disorder  association with"]
["EN2","autism spectrum disorder  association with"]
["HOXA1","autism spectrum disorder  association with"]
["MBD5","autism spectrum disorder  association with"]
["SLC35A3","autism spectrum disorder  epilepsy & arthrogryposis"]
["OXTR","autism spectrum disorder  increased risk"]
["CNTNAP2","autism spectrum disorder  modifier of"]
["TSC1","autism spectrum disorders"]
["TSC2","autism spectrum disorders"]
["PTEN","autism spectrum disorders  developmental delay and macrocephaly"]
["ITGB3","autism, association with, 7"]
["CHD8","autism, susceptibility to, 18"]
["NLGN3","autism, susceptibility to, x-linked 1"]
["MECP2","autism, susceptibility to, x-linked 3"]
["SCN1A","autistic disorder of childhood onset"]
["CD226","autoimmune disease  association with"]
["BCL2","autoimmune disease  resistance to  association"]
["SIAE","autoimmune disease 6"]
["SIAE","autoimmune disease predisposition  association with"]
["FCRL3","autoimmune diseases  association with"]
["FASLG","autoimmune lymphoproliferative syndrome  type 1b"]
["CASP10","autoimmune lymphoproliferative syndrome ii  association with"]
["FAS","autoimmune lymphoproliferative syndrome, type 1a"]
["CASP10","autoimmune lymphoproliferative syndrome, type 2"]
["NRAS","autoimmune lymphoproliferative syndrome, type iv"]
["FCRL3","autoimmune pancreatitis  association with"]
["AIRE","autoimmune polyendocrinopathy syndrome, type i"]
["AIRE","autoimmune polyglandular syndrome type 1, autosomal dominant"]
["TG","autoimmune thyroid disease  association with"]
["ZFAT","autoimmune thyroid disease  association with"]
["TG","autoimmune thyroid disease 3"]
["PLCG2","autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated"]
["NLRP12","autoinflammatory disease  cold-induced"]
["RET","autonomic control  congenital failure of"]
["EDARADD","autosomal dominant hypohidrotic ectodermal dysplasia"]
["POLG","autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 1"]
["SLC25A4","autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 2"]
["C10orf2","autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 3"]
["POLG2","autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 4"]
["RRM2B","autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 5"]
["TUBB4A","autosomal dominant torsion dystonia 4"]
["TGM1","autosomal recessive congenital ichthyosis 1"]
["ALOX12B","autosomal recessive congenital ichthyosis 2"]
["ALOXE3","autosomal recessive congenital ichthyosis 3"]
["ABCA12","autosomal recessive congenital ichthyosis 4a"]
["ABCA12","autosomal recessive congenital ichthyosis 4b"]
["CYP4F22","autosomal recessive congenital ichthyosis 5"]
["NIPAL4","autosomal recessive congenital ichthyosis 6"]
["EFEMP2","autosomal recessive cutis laxa type 1b"]
["PYCR1","autosomal recessive cutis laxa type 2b"]
["PYCR1","autosomal recessive cutis laxa type 3b"]
["EFEMP2","autosomal recessive cutis laxa type ia"]
["FBLN5","autosomal recessive cutis laxa type ia"]
["PMP22","autosomal recessive dejerine-sottas syndrome"]
["PRX","autosomal recessive dejerine-sottas syndrome"]
["EDARADD","autosomal recessive hypohidrotic ectodermal dysplasia syndrome"]
["DMP1","autosomal recessive hypophosphatemic vitamin d refractory rickets"]
["COL2A1","avascular necrosis of the femoral head, primary"]
["FOXC1","axenfeld anomaly  with atrial septal defect"]
["FOXC1","axenfeld anomaly  with glaucoma"]
["SH3PXD2B","axenfeld-rieger anomaly"]
["PITX2","axenfeld-rieger syndrome type 1"]
["FOXC1","axenfeld-rieger syndrome type 3"]
["RYR1","axial myopathy  late-onset"]
["ABCC11","axillary odor"]
["TRIM2","axonal neuropathy  early-onset"]
["MFN2","axonal neuropathy  severe  early-onset"]
["RAC1","azathioprine haematotoxicity in tpmt carriers  association with"]
["FKBP6","azoospermia"]
["DAZL","azoospermia  association with"]
["AR","azoospermia  hypergonadotropic"]
["FKBP6","azoospermia  non-obstructive"]
["PRDM9","azoospermia  non-obstructive"]
["SOHLH1","azoospermia  non-obstructive"]
["PRDM9","azoospermia by meiotic arrest  association with"]
["PMS2","azoospermia/oligozoospermia  association with"]
["CISH","bacteraemia  malaria  and tuberculosis  susceptibility to  association with"]
["TIRAP","bacteremia, resistance to"]
["CISH","bacteremia, susceptibility to, 2"]
["TLR2","bacterial infection  association with"]
["ASXL3","bainbridge-ropers syndrome"]
["ITGA2B","bak platelet-specific antigen"]
["RECQL4","baller-gerold syndrome"]
["SLC4A1","band 3 memphis"]
["OCLN","band-like calcification  simplified gyration & polymicrogyria"]
["ARL6IP6","bardet-biedl like features"]
["NPHP4","bardet-biedl like features"]
["BBS1","bardet-biedl syndrome 1"]
["ARL6","bardet-biedl syndrome 1, modifier of"]
["MKKS","bardet-biedl syndrome 1, modifier of"]
["BBS10","bardet-biedl syndrome 10"]
["BBS12","bardet-biedl syndrome 12"]
["WDPCP","bardet-biedl syndrome 12, modifier of"]
["TMEM67","bardet-biedl syndrome 14, modifier of"]
["BBS2","bardet-biedl syndrome 2"]
["ARL6","bardet-biedl syndrome 3"]
["BBS4","bardet-biedl syndrome 4"]
["BBS5","bardet-biedl syndrome 5"]
["BBS1","bardet-biedl syndrome 7"]
["BBS7","bardet-biedl syndrome 7"]
["BBS9","bardet-biedl syndrome 9"]
["CCDC28B","bardet-biedl syndrome modifier  association with"]
["CIITA","bare lymphocyte syndrome  complementation group a"]
["RFXANK","bare lymphocyte syndrome  complementation group b"]
["RFXAP","bare lymphocyte syndrome  complementation group d"]
["TAP2","bare lymphocyte syndrome  type i"]
["CIITA","bare lymphocyte syndrome type 2, complementation group a"]
["RFX5","bare lymphocyte syndrome type 2, complementation group e"]
["ASCC1","barrett esophagus/esophageal adenocarcinoma"]
["MSR1","barrett esophagus/esophageal adenocarcinoma"]
["CTHRC1","barrett oesophagus/oesophageal adenocarcinoma"]
["TAZ","barth syndrome  atypical"]
["CLCNKB","bartter syndrome  antenatal"]
["KCNJ1","bartter syndrome  antenatal"]
["SLC12A1","bartter syndrome  antenatal"]
["SLC12A1","bartter syndrome  type i"]
["KCNJ1","bartter syndrome  type ii"]
["CLCNKA","bartter syndrome 4  digenic"]
["SLC12A1","bartter syndrome antenatal type 1"]
["KCNJ1","bartter syndrome antenatal type 2"]
["CLCNKB","bartter syndrome type 3"]
["BSND","bartter syndrome type 4"]
["CLCNKB","bartter syndrome, type 3, with hypocalciuria"]
["TP53","basal cell carcinoma  increased risk  association with"]
["ERCC2","basal cell carcinoma  reduced risk  association with"]
["KRT5","basal cell carcinoma  reduced risk  association with"]
["TP53BP1","basal cell carcinoma  reduced risk  association with"]
["RASA1","basal cell carcinoma, somatic"]
["SMO","basal cell carcinoma, sporadic"]
["TP53","basal cell carcinoma, susceptibility to, 7"]
["PDGFB","basal ganglia calcification  idiopathic"]
["PDGFRB","basal ganglia calcification  idiopathic"]
["SLC20A2","basal ganglia calcification  idiopathic"]
["PDGFB","basal ganglia calcification, idiopathic, 5"]
["SLC19A3","basal ganglia disease  biotin-responsive"]
["ATM","b-cell non-hodgkin lymphoma, somatic"]
["IFNGR1","bcg infection, tuberculoid, antibiotic-responsive"]
["BCHE","bche*243m"]
["BCHE","bche*390v"]
["BCHE","bche*539t"]
["BCHE","bche*70g"]
["BCHE","bche, dibucaine-resistant i"]
["BCHE","bche, fluoride 1"]
["BCHE","bche, fluoride 2"]
["BCHE","bche, fluoride-resistant i"]
["BCHE","bche, fluoride-resistant ii"]
["BCHE","bche, j variant"]
["BCHE","bche, k variant"]
["BCHE","bche, quantitative j variant"]
["BCHE","bche, quantitative k polymorphism"]
["FGFR3","beare-stevenson syndrome-like anomalies"]
["THOC6","beaulieu-boycott-innes syndrome"]
["CDKN1C","beckwith-wiedemann syndrome with cleft palate  sensorineural hearing loss & supernumerary flexion creases"]
["PDGFRL","behcet disease  association with"]
["ROCK2","behcet disease  association with"]
["UBAC2","behcet disease  association with"]
["HLA-E","behcet disease  reduced risk  association with"]
["IL17F","behcet disease  reduced risk  association with"]
["ICAM1","behcet's disease  association with"]
["XRCC1","benign breast disease  association with"]
["PRLR","benign breast tumours  association with"]
["GRIN2A","benign epilepsy with centrotemporal spikes"]
["COL4A3","benign familial hematuria"]
["COL4A4","benign familial hematuria"]
["KCNQ2","benign familial neonatal seizures 1"]
["KCNQ3","benign familial neonatal seizures 2"]
["SCN2A","benign familial neonatal-infantile seizures"]
["COL4A5","benign haematuria"]
["ATP8B1","benign recurrent intrahepatic cholestasis 1"]
["NQO1","benzene toxicity, susceptibility to"]
["GP9","bernard-soulier syndrome type c"]
["GP1BA","bernard-soulier syndrome, type a1"]
["GP1BA","bernard-soulier syndrome, type a2, autosomal dominant"]
["HLA-DPB1","beryllium disease  chronic  association with"]
["BEST1","best vitelliform macular dystrophy"]
["VMD2","best vitelliform macular dystrophy"]
["BEST1","best vitelliform macular dystrophy, multifocal"]
["BEST1","bestrophinopathy  angle-closure glaucoma  hyperopia & cataracts"]
["BEST1","bestrophinopathy, autosomal recessive"]
["HBB","beta thalassemia intermedia"]
["HBB","beta thalassemia major"]
["HBB","beta0^ thalassemia"]
["ADRB2","beta-2-adrenoreceptor agonist, reduced response to"]
["HBB","beta-e-thalassemia"]
["TAS2R16","beta-glycopyranoside tasting"]
["HEXA","beta-hexosaminidase a, pseudodeficiency of"]
["HBB","beta-houston-thalassemia"]
["HIBCH","beta-hydroxyisobutyryl-coa deacylase deficiency"]
["HBB","beta-knossos-thalassemia"]
["HBB","beta-malay-thalassemia"]
["HBB","beta-plus-thalassemia"]
["HBB","beta-plus-thalassemia, dominant"]
["HBB","beta-showa-yakushiji thalassemia"]
["HBB","beta-thalassemia dominant"]
["HBB","beta-thalassemia intermedia, dominant"]
["HBB","beta-thalassemia, dominant inclusion body type"]
["HBB","beta-thalassemia, lermontov type"]
["COL6A2","bethlem myopathy, autosomal recessive"]
["CFB","bf*fa/s"]
["ERCC2","bids brittle hair-impaired intellect-decreased fertility-short stature syndrome"]
["ERCC3","bids brittle hair-impaired intellect-decreased fertility-short stature syndrome"]
["FREM1","bifid nose  renal agenesis & anorectal malformations syndrome"]
["HOXB1","bilateral facial palsy  hearing loss & strabismus"]
["GDF1","bilateral right-sidedness sequence"]
["BAAT","bile acid amidation defect"]
["SLC10A2","bile acid malabsorption  primary"]
["AKR1D1","bile acid synthesis defect, congenital, 2"]
["JAG1","biliary atresia  extrahepatic"]
["UGT1A1","bilirubin, serum level of, quantitative trait locus 1"]
["BTD","biotinidase deficiency  partial"]
["COMT","bipolar affective disorder  association with"]
["HTR2C","bipolar affective disorder  association with"]
["HTR3A","bipolar affective disorder  association with"]
["MLC1","bipolar affective disorder  association with"]
["SSTR5","bipolar affective disorder  association with"]
["TPH2","bipolar affective disorder  association with"]
["VAMP7","bipolar affective disorder  association with"]
["ITGA9","bipolar affective disorder  increased risk  assoc with"]
["S100B","bipolar affective disorder  increased risk  assoc with"]
["BDNF","bipolar affective disorder, susceptibility to"]
["TPH2","bipolar affective disorder, susceptibility to"]
["GSK3B","bipolar disorder  age of onset  association with"]
["ADRBK2","bipolar disorder  association with"]
["BCR","bipolar disorder  association with"]
["CNR2","bipolar disorder  association with"]
["DSCAM","bipolar disorder  association with"]
["ERBB4","bipolar disorder  association with"]
["HSP90B1","bipolar disorder  association with"]
["HSPA5","bipolar disorder  association with"]
["IMPA2","bipolar disorder  association with"]
["MAOA","bipolar disorder  association with"]
["OTX2","bipolar disorder  association with"]
["SLC12A6","bipolar disorder  association with"]
["SLC18A1","bipolar disorder  association with"]
["XBP1","bipolar disorder  increased risk  association with"]
["PIK3C3","bipolar disorder/schizophrenia association with"]
["HTR2A","bipolar i disorder  association with"]
["CD207","birbeck granule deficiency"]
["BHD","birt-hogg-dub syndrome"]
["H19","birthweight  association with"]
["BCS1L","bjornstad syndrome with mild mitochondrial complex iii deficiency"]
["EGFR","bladder cancer  association with"]
["HRAS","bladder cancer  association with"]
["OGG1","bladder cancer  association with"]
["XPC","bladder cancer  increased risk"]
["ARL6IP5","bladder cancer  increased risk  association with"]
["DDX20","bladder cancer  increased risk  association with"]
["ERCC4","bladder cancer  increased risk  association with"]
["ERCC6","bladder cancer  increased risk  association with"]
["HOXB5","bladder cancer  increased risk  association with"]
["MDM2","bladder cancer  increased risk  association with"]
["PARP1","bladder cancer  increased risk  association with"]
["PSCA","bladder cancer  increased risk  association with"]
["SLC23A1","bladder cancer  increased risk  association with"]
["XRCC4","bladder cancer  increased risk  association with"]
["UGT1A6","bladder cancer  protection against  association with"]
["ZNF350","bladder cancer  reduced risk  association with"]
["PTGS2","bladder cancer  risk  association with"]
["TNFRSF10A","bladder cancer  susceptibility to  assoc with"]
["UGT2B7","bladder cancer in benzidine-exposed workers  association with"]
["TEP1","bladder cancer risk  association with"]
["FGFR3","bladder cancer, somatic"]
["HRAS","bladder cancer, somatic"]
["KRAS","bladder cancer, somatic"]
["KRAS","bladder cancer, transitional cell, somatic"]
["LRIG2","bladder disease  non-syndromic"]
["DICER1","blastoma  pleuropulmonary"]
["KIAA0928","blastoma  pleuropulmonary"]
["BLMH","bleomycin hydrolase polymorphism"]
["FOXL2","blepharophimosis, ptosis, and epicanthus inversus"]
["FOXL2","blepharophimosis, ptosis, and epicanthus inversus, type i"]
["FOXL2","blepharophimosis, ptosis, and epicanthus inversus, type ii"]
["THAP1","blepharospasm  benign essential"]
["ABO","blood group a2"]
["ABO","blood group b"]
["ABO","blood group cis-ab"]
["GYPA","blood group erik"]
["SEMA7A","blood group, john milton hagen system"]
["ABCG2","blood group, junior system"]
["SLC4A1","blood group--froese"]
["KLF1","blood group--lutheran inhibitor"]
["BCAM","blood group--lutheran null"]
["BSG","blood group--ok"]
["SLC4A1","blood group--waldner type"]
["GYPC","blood group--webb antigen wb"]
["SLC4A1","blood group--wright antigen"]
["DBH","blood pressure  association with"]
["MMP3","blood pressure  association with"]
["NPPC","blood pressure  association with"]
["WNK1","blood pressure  association with"]
["NPY1R","blood pressure variation  association with"]
["NR3C2","blood pressure variation in response to potassium  association with"]
["OCA2","blue eye colour  association with"]
["HTR2C","bmi  association with"]
["LAMA5","body composition in african american women  association with"]
["ADCY3","body mass index  association with"]
["MTCH2","body mass index  association with"]
["SH2B1","body mass index  association with"]
["FFAR4","body mass index quantitative trait locus 10"]
["PCSK1","body mass index quantitative trait locus 12"]
["UCP2","body mass index quantitative trait locus 4"]
["MC3R","body mass index quantitative trait locus 9"]
["FTO","body mass index variability  association with"]
["PPARG","body mass index, modifier of"]
["FUT1","bombay phenotype"]
["BMP1","bone fragility  autosomal recessive"]
["ADAMTS18","bone mass  association with"]
["BMP2","bone mass  association with"]
["TCIRG1","bone mass  association with"]
["FGF2","bone mineral density  association with"]
["FGFBP1","bone mineral density  association with"]
["FZD1","bone mineral density  association with"]
["PLOD1","bone mineral density  association with"]
["PRDM2","bone mineral density  association with"]
["WNT16","bone mineral density  association with"]
["POSTN","bone mineral density and vertebral fracture  association with"]
["TNFSF11","bone mineral density in osteoporosis  association with"]
["CALCR","bone mineral density quantitative trait locus 15"]
["WNT1","bone mineral density quantitative trait locus 16"]
["LGR4","bone mineral density quantitative trait locus 17"]
["SH3PXD2B","borrone di rocco crovato syndrome"]
["HOXA1","bosley-salih-alorainy syndrome  bsas"]
["EMG1","bowen-conradi syndrome"]
["GDF5","brachydactyly  type a1"]
["GDF5","brachydactyly  type a2"]
["NOG","brachydactyly  type b"]
["ROR2","brachydactyly  type b"]
["GDF5","brachydactyly  type c"]
["GDF5","brachydactyly  type c with angel-shaped phalanx"]
["ROR2","brachydactyly type b1"]
["NOG","brachydactyly type b2"]
["HOXD13","brachydactyly type d"]
["HOXD13","brachydactyly type e1"]
["PTHLH","brachydactyly type e2"]
["GDF5","brachydactyly, type a1, c"]
["TRPV4","brachyolmia  autosomal dominant"]
["TRPV4","brachyrachia"]
["MMP3","brain arteriovenous malfomations  association with"]
["PCK1","brain atrophy in multiple sclerosis  association with"]
["APLNR","brain infarction  association with"]
["WDR62","brain malformations  severe"]
["BCKDK","branched-chain ketoacid dehydrogenase kinase deficiency"]
["EYA1","branchiootorenal syndrome with cataract"]
["BRCA1","brca1 and brca2 hereditary breast and ovarian cancer"]
["BRCA2","brca1 and brca2 hereditary breast and ovarian cancer"]
["KRAS","breast adenocarcinoma, somatic"]
["ERBB4","breast and colorectal cancer  association with"]
["TERT","breast and ovarian cancer  increased risk"]
["BTBD12","breast and/or ovarian cancer"]
["CHEK2","breast and/or ovarian cancer"]
["RAD51L3","breast and/or ovarian cancer"]
["TOPBP1","breast and/or ovarian cancer  increased risk  association with"]
["RAD51L3","breast and/or ovarian cancer  susceptibility to"]
["PALB2","breast and/or pancreatic cancer"]
["KILLIN","breast cancer"]
["PML","breast cancer"]
["SETD8","breast cancer  age of onset  association with"]
["AKAP13","breast cancer  association with"]
["ATM","breast cancer  association with"]
["BARD1","breast cancer  association with"]
["BRCA2","breast cancer  association with"]
["BRIP1","breast cancer  association with"]
["CDKN1A","breast cancer  association with"]
["CHDH","breast cancer  association with"]
["CHEK2","breast cancer  association with"]
["EGFR","breast cancer  association with"]
["ESR1","breast cancer  association with"]
["FANCA","breast cancer  association with"]
["IQGAP1","breast cancer  association with"]
["KLK3","breast cancer  association with"]
["PPP2R1B","breast cancer  association with"]
["TGFBR1","breast cancer  association with"]
["TNFSF10","breast cancer  association with"]
["TOX3","breast cancer  association with"]
["UBE2I","breast cancer  association with"]
["XRCC2","breast cancer  association with"]
["ATM","breast cancer  bilateral  association with"]
["GEN1","breast cancer  bilateral  association with"]
["ATM","breast cancer  contralateral  reduced risk  association with"]
["CYP19A1","breast cancer  decreased risk  association with"]
["GHRHR","breast cancer  decreased risk  association with"]
["NQO2","breast cancer  decreased risk  association with"]
["BRCA1","breast cancer  descreased risk  association with"]
["LHCGR","breast cancer  earlier onset  association with"]
["BRCA1","breast cancer  early-onset"]
["BRCA2","breast cancer  early-onset"]
["PRKAG2","breast cancer  er negative  association with"]
["WRAP53","breast cancer  er negative  association with"]
["ANKLE1","breast cancer  hormone receptor-negative  reduced risk"]
["IL21","breast cancer  improved prognosis  association with"]
["BARD1","breast cancer  increased risk"]
["FOXP3","breast cancer  increased risk"]
["IL2RA","breast cancer  increased risk"]
["PALB2","breast cancer  increased risk"]
["TERT","breast cancer  increased risk"]
["TP53","breast cancer  increased risk"]
["ZNF365","breast cancer  increased risk"]
["ALCAM","breast cancer  increased risk  association with"]
["BMPR1B","breast cancer  increased risk  association with"]
["CYP3A5","breast cancer  increased risk  association with"]
["DMBT1","breast cancer  increased risk  association with"]
["EPCAM","breast cancer  increased risk  association with"]
["ERBB2","breast cancer  increased risk  association with"]
["FANCD2","breast cancer  increased risk  association with"]
["LGALS3","breast cancer  increased risk  association with"]
["LIN28","breast cancer  increased risk  association with"]
["MYC","breast cancer  increased risk  association with"]
["NG36/G9a","breast cancer  increased risk  association with"]
["RAD51L3","breast cancer  increased risk  association with"]
["RYR3","breast cancer  increased risk  association with"]
["XRCC1","breast cancer  increased risk  association with"]
["LOX","breast cancer  increased risk  in african american women  association with"]
["RAD51","breast cancer  increased risk in brca2 carriers  association with"]
["CDH1","breast cancer  lobular"]
["AR","breast cancer  male"]
["BRCA2","breast cancer  male"]
["PALB2","breast cancer  male"]
["RAD51L1","breast cancer  male  association with"]
["AXIN1","breast cancer  non-brca1/brca2 related"]
["CNTROB","breast cancer  non-brca1/brca2 related"]
["FANCM","breast cancer  non-brca1/brca2 related"]
["MAPKAP1","breast cancer  non-brca1/brca2 related"]
["PTPRF","breast cancer  non-brca1/brca2 related"]
["S1PR3","breast cancer  non-brca1/brca2 related"]
["SLBP","breast cancer  non-brca1/brca2 related"]
["TIMP3","breast cancer  non-brca1/brca2 related"]
["TNFSF8","breast cancer  non-brca1/brca2 related"]
["UBA3","breast cancer  non-brca1/brca2 related"]
["WNT8A","breast cancer  non-brca1/brca2 related"]
["CCND1","breast cancer  oestrogen receptor-positive  association with"]
["SHBG","breast cancer  oestrogen-dependence  association with"]
["BRCA1","breast cancer  protection against  association with"]
["POLG","breast cancer  protection against  association with"]
["XRCC3","breast cancer  protection against  association with"]
["ZNF350","breast cancer  protection against  association with"]
["TERT","breast cancer  reduced risk"]
["ATG10","breast cancer  reduced risk  association with"]
["BARD1","breast cancer  reduced risk  association with"]
["CASP8","breast cancer  reduced risk  association with"]
["COMT","breast cancer  reduced risk  association with"]
["DNMT3B","breast cancer  reduced risk  association with"]
["EHMT1","breast cancer  reduced risk  association with"]
["GSTM1","breast cancer  reduced risk  association with"]
["MDM2","breast cancer  reduced risk  association with"]
["MIIP","breast cancer  reduced risk  association with"]
["MMP7","breast cancer  reduced risk  association with"]
["NCOA3","breast cancer  reduced risk  association with"]
["TERT","breast cancer  reduced risk in brca1 carriers"]
["BRCA2","breast cancer  sporadic  protection against"]
["PHB","breast cancer  susceptibility association with"]
["ATM","breast cancer  susceptibility to"]
["BRCA1","breast cancer  susceptibility to"]
["RAD51L3","breast cancer  susceptibility to"]
["EDNRA","breast cancer  susceptibility to  association with"]
["ROPN1L","breast cancer  susceptibility to  association with"]
["ZNF577","breast cancer  susceptibility to  association with"]
["BRCA1","breast cancer  triple-negative"]
["BRCA2","breast cancer  triple-negative"]
["TP53","breast cancer ?"]
["BRCA2","breast cancer in radiographers  decreased risk"]
["RRP1B","breast cancer progression  association with"]
["ABCG2","breast cancer resistance protein deficiency  association with"]
["BRCA2","breast cancer risk  association with"]
["RAB28","breast cancer risk  association with"]
["ATM","breast cancer risk in older women  association"]
["WRN","breast cancer risk in radiographers  association with"]
["BRIP1","breast cancer, early-onset"]
["RAD54L","breast cancer, invasive ductal"]
["TGFB1","breast cancer, invasive, susceptibility to"]
["NQO1","breast cancer, post-chemotherapy poor survival in"]
["CASP8","breast cancer, protection against"]
["AKT1","breast cancer, somatic"]
["PIK3CA","breast cancer, somatic"]
["TP53","breast cancer, somatic"]
["APC","breast cancer, susceptibility to"]
["ATM","breast cancer, susceptibility to"]
["BARD1","breast cancer, susceptibility to"]
["CHEK2","breast cancer, susceptibility to"]
["CYP17A1","breast cancer, susceptibility to"]
["PALB2","breast cancer, susceptibility to"]
["PHB","breast cancer, susceptibility to"]
["CYP1B1","breast or lung cancer  association with"]
["LDLRAD1","breast or prostate cancer  increased risk"]
["BRCA1","breast-ovarian cancer, familial 1"]
["BRCA2","breast-ovarian cancer, familial 2"]
["RAD51C","breast-ovarian cancer, familial 3"]
["RAD51D","breast-ovarian cancer, familial 4"]
["HBG1","british hpfh"]
["GLI3","broad thumbs  postaxial polydactyly & variable syndactyly of hands/feet"]
["ALOX5","bronchial asthma  association with"]
["IL4","bronchial asthma  association with"]
["TBXA2R","bronchial asthma  association with"]
["TSLP","bronchial asthma  association with"]
["IL18","bronchial asthma  severity  association with"]
["SLC26A9","bronchiectasis  diffuse ideopathic"]
["CFTR","bronchiectasis with or without elevated sweat chloride 1, modifier of"]
["SCNN1A","bronchiectasis with or without elevated sweat chloride 2"]
["SCNN1G","bronchiectasis with or without elevated sweat chloride 3"]
["CFTR","bronchitis"]
["DAG1","bronchopulmonary dysplasia in premature newborns  association"]
["C20orf54","brown-vialetto-van laere / fazio-londe syndrome"]
["GPR172A","brown-vialetto-van laere syndrome"]
["SLC52A2","brown-vialetto-van laere syndrome 2"]
["FKBP10","bruck syndrome 1"]
["PKP2","brugada syndrome"]
["SCN5A","brugada syndrome  lidocaine-induced"]
["KCNH2","brugada syndrome  phenotype modifier"]
["SCN5A","brugada syndrome 1"]
["JAK2","budd-chiari syndrome, susceptibility to, somatic"]
["BDNF","bulimia nervosa 2"]
["BEST1","bulls eye maculopathy"]
["BEST1","bull's eye maculopathy"]
["SLC11A1","buruli ulcer, susceptibility to"]
["ZFP36L1","butyrate response factor 1 deficiency"]
["BCHE","butyrylcholinesterase deficiency, fluoride-resistant, japanese type"]
["C1QA","c1q deficiency"]
["C1QA","c1q deficiency  type a"]
["C1QB","c1q deficiency  type b"]
["C1QC","c1q deficiency  type c"]
["C1S","c1s deficiency"]
["C3","c3 polymorphism, hav 4-1 plus/minus type"]
["OR2J3","c3hex, ability to smell"]
["C3","c3s/c3f polymorphism"]
["C6","c6 a/b polymorphism"]
["C7","c7 and c6 deficiency, combined subtotal"]
["ITGB3","ca/tu alloantigen polymorphism"]
["HNF1A","cadiovascular disease  increased risk  association with"]
["NF1","caf-au-lait macules with pulmonary stenosis"]
["MSH6","cafe-au-lait  oligodendroglioma  rectal cancer"]
["MTNR1A","calcium nephrolithiasis  association with"]
["FGF23","calcium nephrolithiasis with renal phosphate leak  association with"]
["SOX9","campomelic dysplasia with small patella syndrome"]
["FGFR3","camptodactyly  tall stature and hearing loss syndrome"]
["FGFR3","camptodactyly, tall stature, and hearing loss syndrome"]
["ASPA","canavan disease, mild"]
["CENPE","cancer"]
["FGFR4","cancer  accelerated progression  association with"]
["ARL11","cancer  association with"]
["CDKN1A","cancer  association with"]
["RASSF1","cancer  increased risk  association with"]
["TYK2","cancer  predisposition to"]
["TGFBR1","cancer  risk  association with"]
["KITLG","cancer  susceptibility to"]
["CHEK2","cancer of multiple types, susceptibility to"]
["FGFR4","cancer progression and tumor cell motility"]
["GSTO1","cancer risk  association with"]
["OGG1","cancer susceptibility  association with"]
["MDM2","cancer suseptibility  association with"]
["CARD9","candidiasis, familial, 2"]
["CLEC7A","candidiasis, familial, 4"]
["ABCC9","cant syndrome"]
["TPM3","cap myopathy 1"]
["TPM2","cap myopathy 2"]
["SMARCAD1","capecitabine sensitivity  association with"]
["RASA1","capillary malformation without arteriovenous malformation"]
["RASA1","capillary malformations  multifocal"]
["GNAQ","capillary malformations, congenital, 1, somatic, mosaic"]
["PMM2","carbohydrate-deficient glycoprotein syndrome type i"]
["CA1","carbonic anhydrase i deficiency"]
["CA1","carbonic anhydrase i, guam"]
["CA2","carbonic anhydrase ii variant"]
["GLO1","carbonyl stress in schizophrenia  association with"]
["CES1","carboxylesterase 1 deficiency  association with"]
["CPA1","carboxypeptidase deficiency"]
["CYP21A2","carcinoma, adrenocortical, androgen-secreting"]
["CARD11","card11 immunodeficiency"]
["CASQ2","cardiac arrhythmia"]
["DSG2","cardiac arrhythmia"]
["JUP","cardiac arrhythmia"]
["KCNE1","cardiac arrhythmia"]
["KCNH2","cardiac arrhythmia"]
["KCNJ2","cardiac arrhythmia"]
["KCNQ1","cardiac arrhythmia"]
["LIG3","cardiac arrhythmia"]
["NOS1AP","cardiac arrhythmia"]
["NPPA","cardiac arrhythmia"]
["SCN1B","cardiac arrhythmia"]
["SCN5A","cardiac arrhythmia"]
["SCN5A","cardiac arrhythmia  increased risk  association"]
["ANK2","cardiac arrhythmia, ankyrin b-related"]
["SCN5A","cardiac conduction defect, nonprogressive"]
["SCN5A","cardiac conduction defect, nonspecific"]
["AKAP10","cardiac conduction defect, susceptibility to"]
["TRPM4","cardiac conduction disease  isolated"]
["AKAP10","cardiac disease  susceptibility to  association"]
["MYH6","cardiac dysrhythmia"]
["TTN","cardiac dysrhythmia"]
["TFAM","cardiac hypertrophy"]
["TFB1M","cardiac hypertrophy"]
["NFATC4","cardiac hypertrophy  protection  association"]
["MYOCD","cardiac malformation  association with"]
["NOS1AP","cardiac repolarisation  association with"]
["SCO2","cardioencephalomyopathy  early-onset"]
["SCO2","cardioencephalomyopathy  fatal infantile"]
["COX15","cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2"]
["KRAS","cardiofaciocutaneous syndrome 2"]
["MAP2K1","cardiofaciocutaneous syndrome 3"]
["MAP2K2","cardiofaciocutaneous syndrome 4"]
["ABCC9","cardiomyopathy"]
["ACTN2","cardiomyopathy"]
["ALMS1","cardiomyopathy"]
["APOA1","cardiomyopathy"]
["CAV3","cardiomyopathy"]
["CSRP3","cardiomyopathy"]
["DES","cardiomyopathy"]
["DSC2","cardiomyopathy"]
["DSG2","cardiomyopathy"]
["DSP","cardiomyopathy"]
["DTNA","cardiomyopathy"]
["EMD","cardiomyopathy"]
["EYA4","cardiomyopathy"]
["FKTN","cardiomyopathy"]
["GLA","cardiomyopathy"]
["LDB3","cardiomyopathy"]
["LMNA","cardiomyopathy"]
["MYH6","cardiomyopathy"]
["MYLK2","cardiomyopathy"]
["PKP2","cardiomyopathy"]
["RYR2","cardiomyopathy"]
["SCN5A","cardiomyopathy"]
["SGCD","cardiomyopathy"]
["TMEM43","cardiomyopathy"]
["TMPO","cardiomyopathy"]
["TNNT2","cardiomyopathy"]
["VCL","cardiomyopathy"]
["DSP","cardiomyopathy  arrhythmogenic  left-dominant"]
["DSP","cardiomyopathy  arrhythmogenic left ventricular"]
["DSG2","cardiomyopathy  arrhythmogenic right ventricular"]
["DSP","cardiomyopathy  arrhythmogenic right ventricular"]
["JUP","cardiomyopathy  arrhythmogenic right ventricular"]
["NPPA","cardiomyopathy  atrial dilated"]
["ABCC9","cardiomyopathy  dilated"]
["ACTC1","cardiomyopathy  dilated"]
["ACTN2","cardiomyopathy  dilated"]
["ANKRD1","cardiomyopathy  dilated"]
["BAG3","cardiomyopathy  dilated"]
["CHRM2","cardiomyopathy  dilated"]
["CRYAB","cardiomyopathy  dilated"]
["CSRP3","cardiomyopathy  dilated"]
["CTF1","cardiomyopathy  dilated"]
["DES","cardiomyopathy  dilated"]
["DMD","cardiomyopathy  dilated"]
["DOLK","cardiomyopathy  dilated"]
["DSC2","cardiomyopathy  dilated"]
["DSG2","cardiomyopathy  dilated"]
["DSP","cardiomyopathy  dilated"]
["EMD","cardiomyopathy  dilated"]
["FHOD3","cardiomyopathy  dilated"]
["FKTN","cardiomyopathy  dilated"]
["FLT1","cardiomyopathy  dilated"]
["GATA4","cardiomyopathy  dilated"]
["GATAD1","cardiomyopathy  dilated"]
["ILK","cardiomyopathy  dilated"]
["LAMA4","cardiomyopathy  dilated"]
["LAMP2","cardiomyopathy  dilated"]
["LDB3","cardiomyopathy  dilated"]
["LMNA","cardiomyopathy  dilated"]
["MURC","cardiomyopathy  dilated"]
["MYBPC3","cardiomyopathy  dilated"]
["MYH6","cardiomyopathy  dilated"]
["MYH7","cardiomyopathy  dilated"]
["MYPN","cardiomyopathy  dilated"]
["NEBL","cardiomyopathy  dilated"]
["NEXN","cardiomyopathy  dilated"]
["PDLIM3","cardiomyopathy  dilated"]
["PKP2","cardiomyopathy  dilated"]
["PLN","cardiomyopathy  dilated"]
["PRDM16","cardiomyopathy  dilated"]
["PSEN1","cardiomyopathy  dilated"]
["RBM20","cardiomyopathy  dilated"]
["SCN5A","cardiomyopathy  dilated"]
["SGCD","cardiomyopathy  dilated"]
["SYNE1","cardiomyopathy  dilated"]
["TAZ","cardiomyopathy  dilated"]
["TCAP","cardiomyopathy  dilated"]
["TCF21","cardiomyopathy  dilated"]
["TMPO","cardiomyopathy  dilated"]
["TNNC1","cardiomyopathy  dilated"]
["TNNI3","cardiomyopathy  dilated"]
["TNNT2","cardiomyopathy  dilated"]
["TPM1","cardiomyopathy  dilated"]
["TTN","cardiomyopathy  dilated"]
["TXNRD2","cardiomyopathy  dilated"]
["VCL","cardiomyopathy  dilated"]
["PSEN1","cardiomyopathy  dilated  and heart failure"]
["HSPB7","cardiomyopathy  dilated  association with"]
["BAG3","cardiomyopathy  dilated  increased risk"]
["BAG3","cardiomyopathy  dilated  reduced risk"]
["LAMA2","cardiomyopathy  dilated  type 1a"]
["LMNA","cardiomyopathy  dilated  with conduction defect  type 1a"]
["LMNA","cardiomyopathy  dilated & cardiac conduction disease"]
["NEBL","cardiomyopathy  dilated & endocardial fibroelastosis"]
["MYPN","cardiomyopathy  dilated / hypertrophic"]
["TPM1","cardiomyopathy  dilated non-compaction"]
["LMNA","cardiomyopathy  dilated with partial atrial standstill"]
["ACTC1","cardiomyopathy  hypertrophic"]
["ACTN2","cardiomyopathy  hypertrophic"]
["ANKRD1","cardiomyopathy  hypertrophic"]
["BRAF","cardiomyopathy  hypertrophic"]
["CASQ2","cardiomyopathy  hypertrophic"]
["CRYAB","cardiomyopathy  hypertrophic"]
["CSRP3","cardiomyopathy  hypertrophic"]
["DES","cardiomyopathy  hypertrophic"]
["FHL1","cardiomyopathy  hypertrophic"]
["FXN","cardiomyopathy  hypertrophic"]
["GLA","cardiomyopathy  hypertrophic"]
["JPH2","cardiomyopathy  hypertrophic"]
["KLF10","cardiomyopathy  hypertrophic"]
["MAP2K1","cardiomyopathy  hypertrophic"]
["MAP2K2","cardiomyopathy  hypertrophic"]
["MRPL3","cardiomyopathy  hypertrophic"]
["MYBPC3","cardiomyopathy  hypertrophic"]
["MYH6","cardiomyopathy  hypertrophic"]
["MYH7","cardiomyopathy  hypertrophic"]
["MYL2","cardiomyopathy  hypertrophic"]
["MYL3","cardiomyopathy  hypertrophic"]
["MYLK2","cardiomyopathy  hypertrophic"]
["MYOM1","cardiomyopathy  hypertrophic"]
["MYOZ2","cardiomyopathy  hypertrophic"]
["MYPN","cardiomyopathy  hypertrophic"]
["NEXN","cardiomyopathy  hypertrophic"]
["OBSCN","cardiomyopathy  hypertrophic"]
["PDLIM3","cardiomyopathy  hypertrophic"]
["PLN","cardiomyopathy  hypertrophic"]
["PRKAG2","cardiomyopathy  hypertrophic"]
["RAF1","cardiomyopathy  hypertrophic"]
["SOS1","cardiomyopathy  hypertrophic"]
["TCAP","cardiomyopathy  hypertrophic"]
["TNNC1","cardiomyopathy  hypertrophic"]
["TNNI3","cardiomyopathy  hypertrophic"]
["TNNT2","cardiomyopathy  hypertrophic"]
["TPM1","cardiomyopathy  hypertrophic"]
["TTN","cardiomyopathy  hypertrophic"]
["VCL","cardiomyopathy  hypertrophic"]
["FHOD3","cardiomyopathy  hypertrophic  association with"]
["TNNT2","cardiomyopathy  hypertrophic  association with"]
["CALM3","cardiomyopathy  hypertrophic  modifier of  association with"]
["MYO6","cardiomyopathy  hypertrophic with deafness"]
["MYH7","cardiomyopathy  hypertrophic/dilated"]
["CALR3","cardiomyopathy  hypertropic"]
["SRI","cardiomyopathy  hypertropic"]
["MIB1","cardiomyopathy  left ventricular noncompaction"]
["MYBPC3","cardiomyopathy  left ventricular noncompaction"]
["MYH7B","cardiomyopathy  left ventricular noncompaction"]
["PLN","cardiomyopathy  modifier of"]
["NDUFS7","cardiomyopathy  neonatal"]
["MYH7","cardiomyopathy  non-compaction"]
["ACTC1","cardiomyopathy  non-compaction  left ventricular"]
["CASQ2","cardiomyopathy  non-compaction  left ventricular"]
["MYH7","cardiomyopathy  non-compaction  left ventricular"]
["TPM1","cardiomyopathy  non-compaction  left ventricular"]
["ACTC1","cardiomyopathy  restrictive"]
["MYH7","cardiomyopathy  restrictive"]
["MYL2","cardiomyopathy  restrictive"]
["MYPN","cardiomyopathy  restrictive"]
["TNNI3","cardiomyopathy  restrictive"]
["TNNT2","cardiomyopathy  restrictive"]
["TPM1","cardiomyopathy  restrictive"]
["DES","cardiomyopathy  restrictive with atrioventricular block"]
["TAZ","cardiomyopathy  x-linked infantile"]
["DSG2","cardiomyopathy, dilated, 1bb, susceptibility to"]
["MYPN","cardiomyopathy, dilated, 1kk"]
["PRDM16","cardiomyopathy, dilated, 1ll"]
["DMD","cardiomyopathy, dilated, 3b"]
["LMNA","cardiomyopathy, dilated, with hypergonadotripic hypogonadism"]
["CAV3","cardiomyopathy, familial hypertrophic"]
["MYPN","cardiomyopathy, familial hypertrophic, 22"]
["MYPN","cardiomyopathy, familial restrictive, 4"]
["MYLK2","cardiomyopathy, hypertrophic, midventricular, digenic"]
["ACTA2","cardiovascular  autonomic & brain anomalies"]
["F3","cardiovascular death  association with"]
["PTGIR","cardiovascular disease  accelerated course  association"]
["MTHFR","cardiovascular disease  association with"]
["PLA2G7","cardiovascular disease  association with"]
["TUBB1","cardiovascular disease  reduced risk  association with"]
["SMAD6","cardiovascular malformation  congenital"]
["PRKAR1A","carney complex  type 1"]
["SLC22A5","carnitine deficiency  primary"]
["SLC22A5","carnitine deficiency  systemic primary"]
["ACADVL","carnitine palmitoyltransferase 2 deficiency  partial"]
["CNDP1","carnosinase deficiency  association with"]
["VLDLR","carotid artery disease  association with"]
["SAA2","carotid intima media thickness  association with"]
["ALOX15","carotid plaque  in coronary heart disease  association with"]
["APOH","carotid plaques  protection against in sle  association with"]
["HABP2","carotid stenosis  association with"]
["HABP2","carotid stenosis, susceptibility to"]
["TTR","carpal tunnel syndrome, familial"]
["MEGF8","carpenter syndrome 2"]
["RMRP","cartilage-hair hypoplasia  omenn syndrome & cd8 lymphopenia"]
["CASP8","caspase-8 deficiency"]
["CRYGD","cataract  aculeiform"]
["GALK1","cataract  age related"]
["IDO1","cataract  age related"]
["SLC16A12","cataract  age related"]
["HSF4","cataract  age-related"]
["GALK1","cataract  age-related  increased risk"]
["CRYBA1","cataract  autosomal dominant"]
["CRYBA2","cataract  autosomal dominant"]
["CRYBB1","cataract  autosomal dominant"]
["CRYBB2","cataract  autosomal dominant"]
["CRYBB3","cataract  autosomal dominant"]
["CRYGC","cataract  autosomal dominant"]
["EYA1","cataract  autosomal dominant"]
["GJA8","cataract  autosomal dominant"]
["MIP","cataract  autosomal dominant"]
["CRYBB1","cataract  autosomal recessive"]
["CRYBB3","cataract  autosomal recessive"]
["HSF4","cataract  autosomal recessive"]
["FTL","cataract  bilateral"]
["CRYGS","cataract  bilateral congenital"]
["CRYBB2","cataract  bilateral congenital posterior subcapsular"]
["CRYBB2","cataract  central nuclear"]
["MIP","cataract  cerulean"]
["CRYAB","cataract  congenital"]
["CRYGS","cataract  congenital"]
["FOXE3","cataract  congenital"]
["GALK1","cataract  congenital"]
["GJA8","cataract  congenital"]
["AGK","cataract  congenital  autosomal recessive"]
["GJA8","cataract  congenital & microcornea"]
["CRYAB","cataract  congenital nuclear"]
["GJA8","cataract  congenital nuclear"]
["PITX3","cataract  congenital posterior polar"]
["CRYGC","cataract  coppock-like"]
["CRYGD","cataract  coralliform"]
["GJA8","cataract  full moon with y-sutural opacities"]
["CRYAB","cataract  juvenile"]
["SLC16A12","cataract  juvenile with microcornea and renal glucosuria"]
["CRYAB","cataract  lamellar"]
["CRYBA4","cataract  lamellar"]
["HSF4","cataract  lamellar"]
["MIP","cataract  lamellar"]
["GJA8","cataract  lamellar pulverulent"]
["HSF4","cataract  marner"]
["CRYAA","cataract  nuclear"]
["MIP","cataract  nuclear"]
["GJA3","cataract  nuclear pulverulent & posterior polar"]
["MAF","cataract  ocular anterior dysgenesis and coloboma"]
["CRYAB","cataract  pediatric"]
["CRYGD","cataract  pediatric"]
["CRYGS","cataract  pediatric"]
["GJA8","cataract  perinuclear"]
["MIP","cataract  polymorphic and lamellar"]
["BFSP2","cataract  progressive  juvenile onset"]
["PAX6","cataract  secondary glaucoma"]
["HSF4","cataract  total white"]
["GJA8","cataract  triangular"]
["PAX6","cataract  with nystagmus"]
["CRYGD","cataract  with protein crystallisation"]
["CRYBA1","cataract  y-suture"]
["GJA8","cataract  zonular nuclear pulverulent"]
["CRYGC","cataract  zonular pulverulent"]
["GJA3","cataract  zonular pulverulent"]
["GJA8","cataract  zonular pulverulent"]
["CRYBA1","cataract  zonular with sutural opacities"]
["GJA8","cataract 1"]
["MIP","cataract 15, multiple types"]
["LIM2","cataract 19"]
["CRYGC","cataract 2, coppock-like"]
["CRYBB2","cataract 3"]
["CRYGB","cataract 39, multiple types"]
["CRYGD","cataract 4"]
["EPHA2","cataract 6"]
["EPHA2","cataract 6, age-related cortical"]
["CRYAA","cataract 9, autosomal recessive"]
["CRYAA","cataract, autosomal dominant"]
["BFSP2","cataract, autosomal dominant, multiple types 1"]
["CRYAA","cataract, autosomal dominant, multiple types, with microcornea"]
["PITX3","cataract, congenital"]
["CRYBB3","cataract, congenital nuclear, autosomal recessive 2"]
["CRYBB1","cataract, congenital nuclear, autosomal recessive 3"]
["SLC16A12","cataract, juvenile, with microcornea and renal glucosuria"]
["CRYBA4","cataract, lamellar 2"]
["CRYGS","cataract, membranous"]
["SIX6","cataract, microphthalmia and nystagmus"]
["VIM","cataract, nuclear diffuse nonprogressive"]
["CHMP4B","cataract, posterior polar, 3"]
["MAF","cataract, pulverulent, juvenile-onset"]
["HSF4","cataract, zonular"]
["CTDP1","cataracts  facial dysmorphism  neuropathy"]
["PAX6","cataracts, congenital, with late-onset corneal dystrophy"]
["COMT","catechol-o-methyltransferase polymorphism"]
["VANGL1","caudal regression syndrome"]
["EYA1","cayler's cardiofacial syndrome"]
["CCR5","ccr5 polymorphism, african-american"]
["CCR5","ccr5 polymorphism, oriental 2"]
["UNC119","cd4 lymphopenia  idiopathic"]
["FCGR1A","cd64 deficiency, familial"]
["CDKL5","cdkl5 disorder"]
["IL18RAP","celiac disease  association with"]
["SH2B3","celiac disease  association with"]
["UBD","celiac disease  association with"]
["MYO9B","celiac disease  increased risk  association with"]
["CTLA4","celiac disease 3"]
["MT2A","cellular response to cadmium  association with"]
["RYR1","central core disease, autosomal recessive"]
["EDN3","central hypoventilation syndrome"]
["RET","central hypoventilation syndrome, congenital, with hirschsprung disease"]
["KISS1","central precocious puberty  association with"]
["KISS1R","central precocious puberty  association with"]
["KISS1","central precocious puberty  idiopathic"]
["TTN","centronuclear myopathy"]
["DNM2","centronuclear myopathy  late-onset"]
["DNM2","centronuclear myopathy  neonatal-onset"]
["CABC1","cerebellar ataxia  adult-onset"]
["PLEKHG4","cerebellar ataxia  autosomal dominant"]
["ANO10","cerebellar ataxia  autosomal recessive"]
["PXMP3","cerebellar ataxia  autosomal recessive"]
["GRM1","cerebellar ataxia  autosomal recessive congenital"]
["ATCAY","cerebellar ataxia  cayman type"]
["DNMT1","cerebellar ataxia  deafness & narcolepsy"]
["CA8","cerebellar ataxia  mental retardation & dysequilibrium syndrome 3"]
["ATP8A2","cerebellar ataxia  mental retardation and dysequilibrium syndrome"]
["VLDLR","cerebellar ataxia  mental retardation and dysequilibrium syndrome"]
["ATP2B3","cerebellar ataxia  x-linked"]
["VLDLR","cerebellar ataxia and mental retardation with quadrupedal locomotion 1"]
["POLG","cerebellar ataxia infantile with progressive external ophthalmoplegia"]
["ATP8A2","cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4"]
["ACO2","cerebellar-retinal degeneration  infantile"]
["APP","cerebral amyloid angiopathy, app-related"]
["APP","cerebral amyloid angiopathy, app-related, piedmont variant"]
["FGF14","cerebral ataxia  autosomal dominant"]
["TMPRSS4","cerebral atrophy  autosomal recessive"]
["KRIT1","cerebral cavernous malformations 1"]
["SLC6A8","cerebral creatine deficiency  x-linked"]
["FOLR1","cerebral folate deficiency"]
["FGB","cerebral infarction  association with"]
["PRKCH","cerebral infarction  association with"]
["PRKCH","cerebral infarction, susceptibility to"]
["PROZ","cerebral ischaemia  protection against  association"]
["IFNAR1","cerebral malaria  association with"]
["TNF","cerebral malaria  association with"]
["IFNB1","cerebral malaria  predisposition to"]
["ICAM1","cerebral malaria  predisposition to  association"]
["KCNC3","cerebral palsy  ataxic"]
["GAD1","cerebral palsy  spastic  symmetric  autosomal recessive"]
["CTC1","cerebroretinal microangiopathy with calcifications and cysts"]
["CYP27A1","cerebrotendinous xanthomatosis  with parkinsonism"]
["PPT1","ceroid lipofuscinosis neuronal 1"]
["CTSD","ceroid lipofuscinosis neuronal 10"]
["CLN5","ceroid lipofuscinosis neuronal 5"]
["CLN6","ceroid lipofuscinosis neuronal 6"]
["MFSD8","ceroid lipofuscinosis neuronal 7"]
["CLN8","ceroid lipofuscinosis neuronal 8"]
["GRN","ceroid lipofuscinosis, neuronal, 11"]
["CTSF","ceroid lipofuscinosis, neuronal, 13"]
["CLN3","ceroid lipofuscinosis, neuronal, 3, protracted"]
["CLN8","ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant"]
["CP","ceruloplasmin belfast"]
["COL5A1","cervical artery dissection  increased risk"]
["COL5A2","cervical artery dissection  increased risk"]
["TGFBR2","cervical artery dissection  spontaneous"]
["TMC8","cervical cancer  association with"]
["BRCA1","cervical cancer  decreased risk  association with"]
["IGF1","cervical cancer  increased risk  association with"]
["IL12A","cervical cancer  increased risk  association with"]
["LAMB3","cervical cancer  increased risk  association with"]
["TNFAIP8","cervical cancer  increased risk  association with"]
["BCL2","cervical cancer  papilloma virus related  association with"]
["FGFR3","cervical cancer, somatic"]
["TP53","cervical cancer, somatic"]
["ERAP1","cervical carcinoma  association with"]
["MGMT","cervical carcinoma  increased risk  association with"]
["ERAP1","cervical carcinoma survival  association with"]
["CIZ1","cervical dystonia  primary"]
["HBEGF","cfhr5 nephropathy  modifier of"]
["CFTR","cftr-related disorder"]
["SCN9A","channelopathy-associated insensitivity to pain"]
["MED25","charcot-marie-tooth disease  2b2"]
["GDAP1","charcot-marie-tooth disease  autosomal dominant"]
["GDAP1","charcot-marie-tooth disease  autosomal recessive"]
["AARS","charcot-marie-tooth disease  axonal"]
["DYNC1H1","charcot-marie-tooth disease  axonal"]
["GDAP1","charcot-marie-tooth disease  axonal"]
["GJB1","charcot-marie-tooth disease  axonal"]
["LRSAM1","charcot-marie-tooth disease  axonal"]
["MFN2","charcot-marie-tooth disease  axonal"]
["TRPV4","charcot-marie-tooth disease  axonal"]
["HSPB1","charcot-marie-tooth disease  axonal  type 2f"]
["EGR2","charcot-marie-tooth disease  demyelinating"]
["GJB1","charcot-marie-tooth disease  demyelinating"]
["MPZ","charcot-marie-tooth disease  demyelinating"]
["GNB4","charcot-marie-tooth disease  dominant intermediate"]
["MFN2","charcot-marie-tooth disease  early onset axonal"]
["GJB1","charcot-marie-tooth disease  intermediate"]
["MFN2","charcot-marie-tooth disease  intermediate"]
["PLEKHG5","charcot-marie-tooth disease  intermediate"]
["FBLN5","charcot-marie-tooth disease  spinal"]
["GJB1","charcot-marie-tooth disease  x-linked"]
["PDK3","charcot-marie-tooth disease  x-linked"]
["GJB1","charcot-marie-tooth disease  x-linked type 1"]
["MFN2","charcot-marie-tooth disease 1  early onset"]
["MPZ","charcot-marie-tooth disease 2  association with"]
["MFN2","charcot-marie-tooth disease 2a  early-onset"]
["GDAP1","charcot-marie-tooth disease 2k  axonal"]
["GDAP1","charcot-marie-tooth disease 4a  early onset axonal"]
["SBF1","charcot-marie-tooth disease 4b3"]
["MPZ","charcot-marie-tooth disease dominant intermediate 3"]
["RAB7A","charcot-marie-tooth disease type 2b"]
["LMNA","charcot-marie-tooth disease type 2b1"]
["MED25","charcot-marie-tooth disease type 2b2"]
["TRPV4","charcot-marie-tooth disease type 2c"]
["GARS","charcot-marie-tooth disease type 2d"]
["NEFL","charcot-marie-tooth disease type 2e"]
["HSPB1","charcot-marie-tooth disease type 2f"]
["MPZ","charcot-marie-tooth disease type 2i"]
["MPZ","charcot-marie-tooth disease type 2j"]
["GDAP1","charcot-marie-tooth disease type 2k"]
["SBF2","charcot-marie-tooth disease type 4b2 with early-onset glaucoma"]
["TRIM2","charcot-marie-tooth disease, axonal, type 2r"]
["GDAP1","charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive"]
["GDAP1","charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4a"]
["DNM2","charcot-marie-tooth disease, dominant intermediate b, with neutropenia"]
["KARS","charcot-marie-tooth disease, recessive intermediate b"]
["PLEKHG5","charcot-marie-tooth disease, recessive intermediate b"]
["PMP22","charcot-marie-tooth disease, type 1a, autosomal recessive"]
["PMP22","charcot-marie-tooth disease, type 1a, with focally folded myelin sheaths"]
["MPZ","charcot-marie-tooth disease, type 1b, with focally folded myelin sheaths"]
["KIF1B","charcot-marie-tooth disease, type 2a1"]
["MFN2","charcot-marie-tooth disease, type 2a2"]
["DNM2","charcot-marie-tooth disease, type 2m"]
["AARS","charcot-marie-tooth disease, type 2n"]
["GDAP1","charcot-marie-tooth disease, type 4a"]
["EGR2","charcot-marie-tooth disease, type id"]
["PMP22","charcot-marie-tooth disease, type ie"]
["NEFL","charcot-marie-tooth disease, type if"]
["PRX","charcot-marie-tooth disease, type ivf"]
["PDK3","charcot-marie-tooth disease, x-linked dominant, 6"]
["AIFM1","charcot-marie-tooth disease, x-linked recessive, type 4"]
["PRPS1","charcot-marie-tooth disease, x-linked recessive, type 5"]
["CHD7","charge association"]
["SEMA3E","charge association"]
["LYST","chdiak-higashi syndrome"]
["BCHE","che*243m"]
["BCHE","che*390v"]
["BCHE","che*539t"]
["BCHE","che*70g"]
["LYST","chediak-higashi syndrome, adult type"]
["LYST","chediak-higashi syndrome, childhood type"]
["TREX1","chilblain lupus  familial"]
["EBP","child syndrome"]
["ClC-2","childhood absence epilepsy  association with"]
["PRF1","childhood acute lymphoblastic leukemia  association with"]
["CNTNAP1","childhood apraxia of speech"]
["CNTNAP2","childhood apraxia of speech"]
["FOXP1","childhood apraxia of speech"]
["ATG5","childhood asthma  association with"]
["ATG5","childhood asthma  reduced risk  association with"]
["ALPL","childhood hypophosphatasia"]
["CNR2","childhood immune thrombocytopenic purpura  association with"]
["ABCB4","cholecystitis"]
["CCKAR","cholecystokinin a receptor polymorphism"]
["ABCG5","cholelithiasis  association with"]
["ABCB4","cholestasis  anicteric"]
["ABCB11","cholestasis  drug-induced"]
["ABCB4","cholestasis  drug-induced"]
["ABCB11","cholestasis  drug-induced  association with"]
["NR1H4","cholestasis  infantile"]
["ABCB11","cholestasis  intrahepatic"]
["ABCB4","cholestasis  intrahepatic"]
["ATP8B1","cholestasis  intrahepatic"]
["JAG1","cholestasis  intrahepatic"]
["CYP7B1","cholestasis  severe"]
["ABCB11","cholestasis, benign recurrent intrahepatic 2"]
["ABCB4","cholestasis, intrahepatic, of pregnancy 3"]
["GHRL","cholesterol level  association with"]
["STAR","cholesterol monooxygenase"]
["PEMT","choline requirement  association with"]
["ANKH","chondrocalcinosis  sporadic  association with"]
["ANKH","chondrocalcinosis 2, sporadic"]
["CHST3","chondrodysplasia  chst3-related"]
["GDF5","chondrodysplasia  grebe type"]
["PTH1R","chondrodysplasia blomstrand type"]
["ARSE","chondrodysplasia punctata  x-linked"]
["EBP","chondrodysplasia punctata  x-linked"]
["ARSE","chondrodysplasia punctata 1, x-linked recessive"]
["EBP","chondrodysplasia punctata 2 x-linked dominant"]
["EBP","chondrodysplasia punctata 2, x-linked dominant, atypical"]
["EXT2","chondrosarcoma"]
["T","chordoma  increased risk"]
["NKX2-1","choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress"]
["TP53","choroid plexus carcinoma  childhood"]
["PRPH2","choroidal dystrophy, central areolar 2"]
["SLC9A6","christianson syndrome"]
["EHMT1","chromosome 9q deletion syndrome"]
["BCAP31","chromosome xq28 deletion syndrome"]
["COL5A1","chronic achilles tendinopathy  association with"]
["G6PD","chronic granuloma and hemolytic anemia"]
["NCF1","chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1"]
["NCF2","chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2"]
["CYBB","chronic granulomatous disease, x-linked"]
["TLR7","chronic hcv infection in females  association with"]
["AGTR1","chronic kidney disease  association with"]
["ROCK2","chronic kidney disease  in individuals with low triglycerides  association"]
["P2RX7","chronic lymphocytic leukaemia  association with"]
["FARP2","chronic lymphocytic leukaemia risk  association with"]
["NF1","chronic myelogenous leukaemia  juvenile"]
["TFAR19","chronic myelogenous leukemia  association with"]
["GATA2","chronic myeloid leukaemia  progression to blast crisis"]
["ABL1","chronic myeloid leukemia, resistant to imatinib"]
["DEFB1","chronic obstructive pulmonary disease  association"]
["ADAM33","chronic obstructive pulmonary disease  association with"]
["COL4A3","chronic obstructive pulmonary disease  association with"]
["CSF2","chronic obstructive pulmonary disease  association with"]
["SERPINA1","chronic obstructive pulmonary disease  association with"]
["MSR1","chronic obstructive pulmonary disease  in smokers  association with"]
["TGFB1","chronic obstructive pulmonary disease  in smokers  association with"]
["CPA1","chronic pancreatitis  early onset"]
["CD14","chronic periodontitis  severity  association with"]
["DNAH5","chronic rhinosinusitis and primary ciliary dyskinesia"]
["C14orf104","ciliary dyskinesia  primary"]
["DNAI1","ciliary dyskinesia  primary"]
["DNAI2","ciliary dyskinesia  primary"]
["RSPH4A","ciliary dyskinesia  primary"]
["RSPH9","ciliary dyskinesia  primary"]
["TXNDC3","ciliary dyskinesia  primary"]
["DNAAF2","ciliary dyskinesia, primary, 10"]
["CCDC40","ciliary dyskinesia, primary, 15"]
["CCDC103","ciliary dyskinesia, primary, 17"]
["HEATR2","ciliary dyskinesia, primary, 18"]
["LRRC6","ciliary dyskinesia, primary, 19"]
["DNAAF3","ciliary dyskinesia, primary, 2"]
["CCDC114","ciliary dyskinesia, primary, 20"]
["N/A","ciliary dyskinesia, primary, 21"]
["ZMYND10","ciliary dyskinesia, primary, 22"]
["DNAH5","ciliary dyskinesia, primary, 3"]
["DNAH11","ciliary dyskinesia, primary, 7"]
["CNTF","ciliary neurotrophic factor deficiency"]
["CDKN1A","cip1/waf1 tumor-associated polymorphism 1"]
["CCBP2","circulating monocyte count  association with"]
["AFP","cirrhosis  association with"]
["TERT","cirrhosis  association with"]
["LYPLAL1","cirrhosis  nonalcoholic steatohepatitis-related"]
["PNPLA3","cirrhosis  nonalcoholic steatohepatitis-related"]
["KRT18","cirrhosis, cryptogenic"]
["KRT8","cirrhosis, cryptogenic"]
["KRT18","cirrhosis, noncryptogenic, susceptibility to"]
["KRT8","cirrhosis, noncryptogenic, susceptibility to"]
["SLC25A13","citrullinaemia  adult onset  type ii"]
["ASS1","citrullinemia type i"]
["SLC25A13","citrullinemia type ii"]
["ASS1","citrullinemia, mild"]
["GPM6A","claustrophobia  association with"]
["HNF1A","clear cell carcinoma of kidney"]
["IRF6","cleft lip  association with"]
["TGFB1","cleft lip  association with"]
["MSX1","cleft lip  incomplete"]
["ARHGAP29","cleft lip  non-syndromic"]
["TP63","cleft lip  non-syndromic"]
["PVRL1","cleft lip / palate  association with"]
["BMP4","cleft lip and palate  nonsyndromic"]
["ARHGAP29","cleft lip and palate  non-syndromic"]
["BMP4","cleft lip and palate  nonsyndromic  increased risk"]
["MSX1","cleft lip and palate with tooth agenesis  association with"]
["MTHFR","cleft lip and/or palate  increased risk"]
["MSX1","cleft lip with or without cleft palate  association"]
["PDGFC","cleft lip with or without cleft palate  association"]
["MSX1","cleft lip with or without cleft palate  nonsyndromic"]
["PAX9","cleft lip with or without cleft palate  nonsyndromic"]
["PVRL1","cleft lip with or without cleft palate  nonsyndromic"]
["IRF6","cleft lip/palate  association with"]
["PVRL1","cleft lip/palate-ectodermal dysplasia syndrome"]
["TP63","cleft palate  hypohidrosis and oligodontia"]
["PDGFRA","cleft palate  isolated"]
["PIGA","cleft palate  neonatal seizures  contractures and central nervous system malformations"]
["FOXE1","cleft palate  non-syndromic"]
["TBX22","cleft palate  non-syndromic"]
["SATB2","cleft palate  osteoporosis and cognitive defects"]
["TBX22","cleft palate and ankyloglossia  association with"]
["ASXL1","c-like syndrome"]
["PPIA","clinical nephrotoxicity in transplant patients  association with"]
["CYP2C19","clopidogrel response"]
["HTR6","clozapine response  association with"]
["HCRTR2","cluster headache  association with"]
["MCTP2","coarctation of the aorta"]
["TBL1Y","coarctation of the aorta  non-syndromic"]
["SOX10","cochlear nerve aplasia  cns hypomyelination  & hyperpigmentation"]
["ERCC8","cockayne syndrome type a"]
["ERCC6","cockayne syndrome, type b"]
["TP53","codon 72 polymorphism,"]
["PDSS1","coenzyme q10 deficiency, primary, 2"]
["PDSS2","coenzyme q10 deficiency, primary, 3"]
["COQ9","coenzyme q10 deficiency, primary, 5"]
["COQ6","coenzyme q10 deficiency, primary, 6"]
["SMARCA2","coffin-siris syndrome"]
["DCLK1","cognitive ability  association with"]
["FARS2","cognitive deficit in schizophrenia  association with"]
["LYRM4","cognitive deficit in schizophrenia  association with"]
["C8orf41","cognitive impairment  short stature & dysmorphisms"]
["VPS13B","cohen syndrome  cutis verticis gyrata & sensorineural deafness"]
["ABCB1","colchicine resistance"]
["ENPP1","cole disease"]
["COL4A5","collagen iv nephropathy"]
["COL3A1","collagen type iii polymorphism"]
["ALOX12B","collodian membrane  self-healing"]
["TGM1","collodion  self-healing"]
["ALOX12B","collodion membrane  self-healing"]
["PIGL","colobomas  heart defects  ichthyosiform dermatosis  mental retardation & ear anomalies"]
["CCNA2","colon  liver and lung cancer  increased risk  association with"]
["DNMT3B","colon adenocarcinoma  reduced risk  association"]
["PML","colon cancer"]
["MBL2","colon cancer  association with"]
["MSH3","colon cancer  association with"]
["MSH6","colon cancer  breast cancer  leukaemia"]
["PIK3R1","colon cancer  increased risk  association with"]
["SRC","colon cancer, advanced"]
["MSH6","colon cancer, hereditary nonpolyposis, type 5"]
["TGFBR2","colon cancer, hereditary nonpolyposis, type 6, somatic"]
["BRAF","colon cancer, somatic"]
["PPARG","colon cancer, somatic"]
["PTPRJ","colon cancer, somatic"]
["AURKA","colon cancer, susceptibility to"]
["ODC1","colonic adenoma recurrence, reduced risk of"]
["IL18","colonic disease in card15 mutation positive individuals  association"]
["OPN1MW","colorblindness, partial, deutan series"]
["APEX1","colorectal adenoma  association with"]
["OGG1","colorectal adenoma  association with"]
["PARP1","colorectal adenoma  association with"]
["SLC10A2","colorectal adenoma  increased risk  association with"]
["CASR","colorectal adenoma  risk  association with"]
["MYC","colorectal and prostate cancer  association with"]
["BCLAF1","colorectal cancer"]
["BGLAP","colorectal cancer"]
["BRCA1","colorectal cancer"]
["DCLRE1A","colorectal cancer"]
["POLE1","colorectal cancer"]
["CDC25C","colorectal cancer  age of onset  association with"]
["IGFBP3","colorectal cancer  association with"]
["MMP2","colorectal cancer  association with"]
["MSH6","colorectal cancer  association with"]
["OGG1","colorectal cancer  association with"]
["POU5F1B","colorectal cancer  association with"]
["REST","colorectal cancer  association with"]
["MLH1","colorectal cancer  early onset"]
["MSH2","colorectal cancer  early onset"]
["MSH6","colorectal cancer  early onset"]
["KIAA0334","colorectal cancer  improved survival  association with"]
["MLH3","colorectal cancer  increased risk"]
["AGXT2L1","colorectal cancer  increased risk  association with"]
["AKAP9","colorectal cancer  increased risk  association with"]
["ANXA11","colorectal cancer  increased risk  association with"]
["AOAH","colorectal cancer  increased risk  association with"]
["ASCC3","colorectal cancer  increased risk  association with"]
["BCL2A1","colorectal cancer  increased risk  association with"]
["BMP2","colorectal cancer  increased risk  association with"]
["BMP4","colorectal cancer  increased risk  association with"]
["BST1","colorectal cancer  increased risk  association with"]
["C11orf93","colorectal cancer  increased risk  association with"]
["CA6","colorectal cancer  increased risk  association with"]
["CD86","colorectal cancer  increased risk  association with"]
["CDC6","colorectal cancer  increased risk  association with"]
["CDH1","colorectal cancer  increased risk  association with"]
["CHIT1","colorectal cancer  increased risk  association with"]
["CYP2W1","colorectal cancer  increased risk  association with"]
["DHX36","colorectal cancer  increased risk  association with"]
["DNAH9","colorectal cancer  increased risk  association with"]
["DTNBP1","colorectal cancer  increased risk  association with"]
["EIF3H","colorectal cancer  increased risk  association with"]
["ERCC6","colorectal cancer  increased risk  association with"]
["EXO1","colorectal cancer  increased risk  association with"]
["FREM2","colorectal cancer  increased risk  association with"]
["GOLGA5","colorectal cancer  increased risk  association with"]
["GREM1","colorectal cancer  increased risk  association with"]
["HIF1AN","colorectal cancer  increased risk  association with"]
["ICAM5","colorectal cancer  increased risk  association with"]
["IFIH1","colorectal cancer  increased risk  association with"]
["INSR","colorectal cancer  increased risk  association with"]
["ITGAE","colorectal cancer  increased risk  association with"]
["JUN","colorectal cancer  increased risk  association with"]
["LAMA5","colorectal cancer  increased risk  association with"]
["LRP2","colorectal cancer  increased risk  association with"]
["MED13L","colorectal cancer  increased risk  association with"]
["MEP1B","colorectal cancer  increased risk  association with"]
["MFI2","colorectal cancer  increased risk  association with"]
["MPP3","colorectal cancer  increased risk  association with"]
["MSH3","colorectal cancer  increased risk  association with"]
["MTHFD1","colorectal cancer  increased risk  association with"]
["MYBPC1","colorectal cancer  increased risk  association with"]
["MYO18B","colorectal cancer  increased risk  association with"]
["NAV2","colorectal cancer  increased risk  association with"]
["NFKBIA","colorectal cancer  increased risk  association with"]
["PAK7","colorectal cancer  increased risk  association with"]
["PARP1","colorectal cancer  increased risk  association with"]
["POLS","colorectal cancer  increased risk  association with"]
["PSMB9","colorectal cancer  increased risk  association with"]
["REV3L","colorectal cancer  increased risk  association with"]
["RHPN2","colorectal cancer  increased risk  association with"]
["SLC8A1","colorectal cancer  increased risk  association with"]
["SMAD7","colorectal cancer  increased risk  association with"]
["TERT","colorectal cancer  increased risk  association with"]
["TLR1","colorectal cancer  increased risk  association with"]
["TPK1","colorectal cancer  increased risk  association with"]
["TRERF1","colorectal cancer  increased risk  association with"]
["WNK1","colorectal cancer  increased risk  association with"]
["XPC","colorectal cancer  increased risk  association with"]
["CDK5RAP3","colorectal cancer  late-onset  association with"]
["APC","colorectal cancer  non-polyposis"]
["BMPR1A","colorectal cancer  non-polyposis"]
["EXO1","colorectal cancer  non-polyposis"]
["MLH1","colorectal cancer  non-polyposis"]
["MLH3","colorectal cancer  non-polyposis"]
["MSH2","colorectal cancer  non-polyposis"]
["MSH6","colorectal cancer  non-polyposis"]
["PMS1","colorectal cancer  non-polyposis"]
["PMS2","colorectal cancer  non-polyposis"]
["TGFBR2","colorectal cancer  non-polyposis"]
["MSH2","colorectal cancer  non-polyposis  association"]
["MSH2","colorectal cancer  non-polyposis  early-onset"]
["MLH1","colorectal cancer  non-polyposis with increased risk of urothelial cancer"]
["MSH2","colorectal cancer  non-polyposis with increased risk of urothelial cancer"]
["PLD2","colorectal cancer  predisposition  association"]
["APC","colorectal cancer  predisposition to  association"]
["BHD","colorectal cancer  reduced risk  association"]
["CHFR","colorectal cancer  reduced risk  association with"]
["CYP1A1","colorectal cancer  reduced risk  association with"]
["EXO1","colorectal cancer  reduced risk  association with"]
["MAP2K4","colorectal cancer  reduced risk  association with"]
["DCC","colorectal cancer  risk  association with"]
["PTGS2","colorectal cancer  risk  association with"]
["APC","colorectal cancer  severe phenotype  association with"]
["MLH1","colorectal cancer  young-onset"]
["GALNT12","colorectal cancer 1"]
["POLD1","colorectal cancer 10"]
["BUB1","colorectal cancer with chromosomal instability"]
["MSH2","colorectal cancer, hereditary, nonpolyposis, type 1"]
["PKHD1","colorectal cancer, protection against"]
["AKT1","colorectal cancer, somatic"]
["APC","colorectal cancer, somatic"]
["AXIN2","colorectal cancer, somatic"]
["BUB1B","colorectal cancer, somatic"]
["CTNNB1","colorectal cancer, somatic"]
["DLC1","colorectal cancer, somatic"]
["EP300","colorectal cancer, somatic"]
["FGFR3","colorectal cancer, somatic"]
["FLCN","colorectal cancer, somatic"]
["MCC","colorectal cancer, somatic"]
["PDGFRL","colorectal cancer, somatic"]
["PIK3CA","colorectal cancer, somatic"]
["MLH1","colorectal cancer, sporadic, susceptibility to"]
["CHEK2","colorectal cancer, susceptibility to"]
["TLR4","colorectal cancer, susceptibility to"]
["POLE","colorectal cancer, susceptibility to, 12"]
["PTGS2","colorectal neoplasia  reduced risk  association"]
["GH1","colorectal neoplasia  reduced risk  association with"]
["ABCC11","colostrum secretion"]
["CNGA3","colour-blindness  total"]
["AQP1","colton blood group polymorphism"]
["AQP1","colton-null"]
["LMAN1","combined deficiency of factor v and factor viii, 1"]
["IL2RG","combined immunodeficiency, x-linked"]
["MRPL44","combined oxidative phosphorylation deficiency 16"]
["ELAC2","combined oxidative phosphorylation deficiency 17"]
["AARS2","combined oxidative phosphorylation deficiency 8"]
["CYP17A1","combined partial 17-alpha-hydroxylase/17,20-lyase deficiency"]
["ABCA3","combined pulmonary fibrosis and emphysaema syndrome"]
["TNFRSF13B","common variable agammaglobulinemia"]
["C6","complement c6 deficiency  subtotal"]
["SERPING1","complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor"]
["C7","complement component 7 deficiency"]
["C8B","complement component 8 deficiency type 2"]
["C8A","complement component 8, alpha subunit, a/b polymorphism"]
["C9","complement component 9 deficiency"]
["CFD","complement factor d deficiency"]
["CFI","complement factor i deficiency  association with"]
["CYP17A1","complete combined 17-alpha-hydroxylase/17,20-lyase deficiency"]
["SERPINA7","complete deficiency 5"]
["NDUFS4","complex 1 and 3 deficiency  combined"]
["EMD","conduction cardiomyopathy"]
["PCDH21","cone dystrophy"]
["GUCA1A","cone dystrophy  autosomal dominant"]
["GUCY2D","cone dystrophy  autosomal dominant"]
["PITPNM3","cone dystrophy  autosomal dominant"]
["ABCA4","cone dystrophy  autosomal recessive"]
["CNGB3","cone dystrophy  autosomal recessive"]
["KCNV2","cone dystrophy  autosomal recessive"]
["PDE6C","cone dystrophy  early-onset"]
["OPN1MW","cone dystrophy 5, x-linked"]
["GNAT2","cone-rod degeneration"]
["GUCY2D","cone-rod degeneration  autosomal dominant"]
["BBS12","cone-rod dystrophy"]
["C21orf2","cone-rod dystrophy"]
["CACNA1F","cone-rod dystrophy"]
["CNNM4","cone-rod dystrophy"]
["ABCA4","cone-rod dystrophy  autosomal recessive"]
["RAB28","cone-rod dystrophy  autosomal recessive"]
["CRB1","cone-rod dystrophy  early-onset"]
["RPE65","cone-rod dystrophy  early-onset  severe"]
["UNC119","cone-rod dystrophy  late-onset"]
["RLBP1","cone-rod dystrophy  newfoundland type"]
["OPN1LW","cone-rod dystrophy  x-linked"]
["OPN1MW","cone-rod dystrophy  x-linked"]
["RAB28","cone-rod dystrophy 18"]
["CRX","cone-rod dystrophy 2"]
["GUCY2D","cone-rod dystrophy 6"]
["ADAM9","cone-rod dystrophy 9"]
["CNNM4","cone-rod dystrophy amelogenesis imperfecta"]
["ADAM9","cone-rod dystrophy with retinal dystrophy  early-onset"]
["AIPL1","cone-rod dystrophy, aipl1-related"]
["RPGR","cone-rod dystrophy, x-linked 1"]
["CYP11B1","congenital adrenal hyperplasia"]
["CYP21A2","congenital adrenal hyperplasia"]
["HSD3B2","congenital adrenal hyperplasia"]
["ACTA2","congenital aneurysm of ascending aorta"]
["FOXP1","congenital atresia of mitral valve"]
["CFTR","congenital bilateral absence of the vas deferens"]
["OCRL","congenital cataract"]
["GJA3","congenital cataract  coppock-like"]
["CRYAA","congenital cataract type  association with"]
["SLC33A1","congenital cataracts  hearing loss and low serum copper and ceruloplasmin"]
["ASCL1","congenital central hypoventilation"]
["BDNF","congenital central hypoventilation"]
["GDNF","congenital central hypoventilation"]
["SLC46A1","congenital defect of folate absorption"]
["ALG1","congenital disorder of glycosylation"]
["ALG8","congenital disorder of glycosylation"]
["GMPPA","congenital disorder of glycosylation"]
["STT3B","congenital disorder of glycosylation"]
["DPAGT1","congenital disorder of glycosylation 1"]
["ALG6","congenital disorder of glycosylation 1c  mild"]
["ALG6","congenital disorder of glycosylation 1c  modifier of"]
["DPM1","congenital disorder of glycosylation 1e  assoc"]
["ALG6","congenital disorder of glycosylation type 1c"]
["ALG3","congenital disorder of glycosylation type 1d"]
["ALG12","congenital disorder of glycosylation type 1g"]
["ALG9","congenital disorder of glycosylation type 1l"]
["DOLK","congenital disorder of glycosylation type 1m"]
["RFT1","congenital disorder of glycosylation type 1n"]
["DPM3","congenital disorder of glycosylation type 1o"]
["ALG11","congenital disorder of glycosylation type 1p"]
["SRD5A3","congenital disorder of glycosylation type 1q"]
["ALG13","congenital disorder of glycosylation type 1s"]
["PGM1","congenital disorder of glycosylation type 1t"]
["DPM2","congenital disorder of glycosylation type 1u"]
["NGLY1","congenital disorder of glycosylation type 1v"]
["MOGS","congenital disorder of glycosylation type 2b"]
["SLC35C1","congenital disorder of glycosylation type 2c"]
["COG8","congenital disorder of glycosylation type 2h"]
["COG4","congenital disorder of glycosylation type 2j"]
["C15orf41","congenital dysorythropoietic anaemia type 1"]
["AGPAT2","congenital generalized lipodystrophy type 1"]
["BSCL2","congenital generalized lipodystrophy type 2"]
["CFC1","congenital heart defects"]
["FOXP1","congenital heart defects"]
["NKX2-5","congenital heart defects"]
["ZIC3","congenital heart defects, multiple types, 1, x-linked"]
["DAPK3","congenital heart disease"]
["NARG1","congenital heart disease"]
["TRFP","congenital heart disease"]
["TMEM121","congenital heart disease  association with"]
["NKX2-5","congenital heart disease  non-syndromic"]
["CHD7","congenital heart disease  protection  asssociation with"]
["NKX2-5","congenital heart disease & cardiomyopathy  adult-onset"]
["TAB2","congenital heart disease, multiple types, 2"]
["CCR2","congenital human immunodeficiency virus"]
["CCR5","congenital human immunodeficiency virus"]
["TLR3","congenital human immunodeficiency virus"]
["SCN11A","congenital indifference to pain"]
["SCN9A","congenital indifference to pain  partial"]
["STAR","congenital lipoid adrenal hyperplasia  nonclassical"]
["LAMA2","congenital muscular dystrophy due to partial lama2 deficiency"]
["LMNA","congenital muscular dystrophy, lmna-related"]
["FKRP","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a5"]
["TMEM5","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a10"]
["B3GALNT2","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a11"]
["POMT2","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a2"]
["POMGNT1","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a3"]
["FKTN","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a4"]
["LARGE","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a6"]
["ISPD","congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a7"]
["POMT1","congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b1"]
["GMPPB","congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b14"]
["POMT2","congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b2"]
["POMGNT1","congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b3"]
["FKRP","congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b5"]
["LARGE","congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b6"]
["FKTN","congenital muscular dystrophy-dystroglycanopathy without mental retardation, type b4"]
["FKRP","congenital muscular dystrophy-dystroglycanopathy without mental retardation, type b5"]
["ALG14","congenital myasthenic syndrome"]
["GFPT1","congenital myasthenic syndrome  limb-girdle"]
["COX10","congenital myasthenic syndrome, acetazolamide-responsive"]
["COX15","congenital myasthenic syndrome, acetazolamide-responsive"]
["SCN4A","congenital myasthenic syndrome, acetazolamide-responsive"]
["MYH7","congenital myopathy with fiber type disproportion"]
["RYR1","congenital myopathy with fiber type disproportion"]
["SEPN1","congenital myopathy with fiber type disproportion"]
["NPHS1","congenital nephrotic syndrome  finnish type"]
["PAX6","congenital ocular coloboma"]
["CLMP","congenital short bowel syndrome"]
["RHO","congenital stationary night blindness, autosomal dominant 1"]
["PDE6B","congenital stationary night blindness, autosomal dominant 2"]
["GNAT1","congenital stationary night blindness, autosomal dominant 3"]
["NYX","congenital stationary night blindness, type 1a"]
["GRM6","congenital stationary night blindness, type 1b"]
["TRPM1","congenital stationary night blindness, type 1c"]
["GPR179","congenital stationary night blindness, type 1e"]
["LRIT3","congenital stationary night blindness, type 1f"]
["CACNA1F","congenital stationary night blindness, type 2a"]
["CACNA1F","congenital stationary night blindness, type 2a, severe"]
["CABP4","congenital stationary night blindness, type 2b"]
["DCN","congenital stromal corneal dystrophy"]
["ADRA2C","congestive heart failure and beta-blocker response, modifier of"]
["ADRB1","congestive heart failure and beta-blocker response, modifier of"]
["TBX1","conotruncal anomaly face syndrome/velocardiofacial syndrome"]
["CPOX","coproporphyria, digenic"]
["MYH7","core myopathy  dilated cardiomyopathy  respiratory failure & scoliosis"]
["TGFBI","corneal dystrophy  avellino"]
["TGFBI","corneal dystrophy  combined granular-lattice type  variant of"]
["TGFBI","corneal dystrophy  epithelial basement membrane"]
["SLC4A11","corneal dystrophy  fuchs endothelial"]
["ZEB1","corneal dystrophy  fuchs late-onset"]
["TACSTD2","corneal dystrophy  gelatinous drop-like"]
["TGFBI","corneal dystrophy  granular"]
["TGFBI","corneal dystrophy  granular type i"]
["TGFBI","corneal dystrophy  lattice intermediate type i/iiia"]
["TGFBI","corneal dystrophy  lattice type"]
["TGFBI","corneal dystrophy  lattice type  with deep deposits"]
["TGFBI","corneal dystrophy  lattice type i"]
["TGFBI","corneal dystrophy  lattice type iiia"]
["TGFBI","corneal dystrophy  map-like"]
["KRT12","corneal dystrophy  meesmann"]
["KRT3","corneal dystrophy  meesmann"]
["TGFBI","corneal dystrophy  reis-buckler"]
["TGFBI","corneal dystrophy  thiel-behnke"]
["COL8A2","corneal dystrophy fuchs endothelial 1"]
["TGFBI","corneal dystrophy, groenouw type i"]
["COL8A2","corneal dystrophy, polymorphous posterior, 2"]
["TGFBI","corneal epithelial dystrophy"]
["NLRP1","corneal intraepithelial dyskeratosis and ectodermal dysplasia"]
["HDAC8","cornelia de lange syndrome 5"]
["EPHX2","coronary artery calcification  in african americans  association with"]
["ALOX15","coronary artery disease  association with"]
["CDKN2BAS","coronary artery disease  association with"]
["CYP2J2","coronary artery disease  association with"]
["F13B","coronary artery disease  association with"]
["FGFR4","coronary artery disease  association with"]
["GATA2","coronary artery disease  association with"]
["IL1RL1","coronary artery disease  association with"]
["IL33","coronary artery disease  association with"]
["LIPC","coronary artery disease  association with"]
["LRP8","coronary artery disease  association with"]
["MKL1","coronary artery disease  association with"]
["MTRR","coronary artery disease  association with"]
["THBS1","coronary artery disease  association with"]
["LRP6","coronary artery disease  early-onset"]
["ABCG8","coronary artery disease  increased risk  association with"]
["CYBA","coronary artery disease  increased risk  association with"]
["IL5","coronary artery disease  increased risk  association with"]
["LIPA","coronary artery disease  increased risk  association with"]
["TRIB1","coronary artery disease  increased risk  association with"]
["CYBA","coronary artery disease  lower risk  association"]
["PON2","coronary artery disease  lower risk  association"]
["ITGA2","coronary artery disease  protection  association with"]
["TERT","coronary artery disease  protection against  association with"]
["ABCG1","coronary artery disease  reduced risk  association with"]
["NAMPT","coronary artery disease  reduced risk  association with"]
["ABCG1","coronary artery disease  severity  in japanese men  association with"]
["MTR","coronary artery disease in smokers  association"]
["LRP6","coronary artery disease, autosomal dominant 2"]
["CX3CR1","coronary artery disease, resistance to"]
["IRS1","coronary artery disease, susceptibility to"]
["PON1","coronary artery disease, susceptibility to"]
["MEF2A","coronary artery disease/myocardial infarction"]
["NOS3","coronary artery spasm 1, susceptibility to"]
["PON1","coronary artery spasm 2, susceptibility to"]
["ARHGAP9","coronary artery spasm 3, susceptibility to"]
["MMP9","coronary atherosclerosis  severe  association with"]
["KDR","coronary heart disease  association with"]
["KIF6","coronary heart disease  association with"]
["MYH15","coronary heart disease  association with"]
["SNX19","coronary heart disease  association with"]
["HSPA8","coronary heart disease  decreased risk  association with"]
["EPHX2","coronary heart disease  in caucasians  association with"]
["ABCA1","coronary heart disease  increased risk  association with"]
["CXCL16","coronary heart disease  increased risk  association with"]
["CYP3A4","coronary heart disease  increased risk  association with"]
["MTHFR","coronary heart disease  increased risk  association with"]
["MTRR","coronary heart disease  increased risk  association with"]
["CYP2C8","coronary heart disease  increased risk in smokers  association"]
["ABCA1","coronary heart disease  premature  association with"]
["PCSK9","coronary heart disease  reduced risk  association with"]
["PON1","coronary heart disease  reduced risk  association with"]
["SELL","coronary heart disease  reduced risk  association with"]
["ABCA1","coronary heart disease in familial hypercholesterolemia, protection against"]
["IRF8","coronary heart disease in sle  association with"]
["NOS3","coronary spasm  association with"]
["ARHGAP9","coronary spastic angina  association with"]
["WRN","coronary stenosis  reduced risk  association with"]
["ITGB3","coronary thrombosis  association with"]
["L1CAM","corpus callosum, partial agenesis of, x-linked"]
["WNT16","cortical bone thickness/bone mineral density  association with"]
["MAPT","corticobasal degeneration"]
["CYP11B2","corticosterone methyloxidase type 1 deficiency"]
["CYP11B2","corticosterone methyloxidase type 2 deficiency"]
["H6PD","cortisone reductase deficiency  partial"]
["HRAS","costello syndrome, severe"]
["SDHD","cowden disease 3"]
["AKT1","cowden disease 6"]
["SDHB","cowden syndrome  modifier of"]
["COL2A1","coxa plana"]
["MCPH1","cranial volume  association with"]
["SOST","craniodiaphyseal dysplasia  autosomal dominant"]
["IFT122","cranioectodermal dysplasia 1"]
["TMCO1","craniofacial dysmorphism  skeletal anomalies & mental retardation"]
["FGFR2","craniofacial-skeletal-dermatologic dysplasia"]
["ANKH","craniometaphyseal dysplasia, autosomal dominant"]
["MSX2","craniosynostosis  boston-type"]
["ERF","craniosynostosis  complex"]
["IL11RA","craniosynostosis  delayed tooth eruption & supernumerary teeth"]
["FREM1","craniosynostosis  isolated metopic"]
["ALX4","craniosynostosis  nonsymdromic"]
["FGFR2","craniosynostosis  predisposition to"]
["TWIST1","craniosynostosis 1"]
["MSX2","craniosynostosis 2"]
["ERF","craniosynostosis 4"]
["FGFR2","craniosynostosis, nonclassifiable autosomal dominant"]
["FGFR2","craniosynostosis, nonsyndromic unicoronal"]
["CAV3","creatine phosphokinase, elevated serum"]
["PRND","creutzfeldt-jakob disease  association with"]
["BACE1","creutzfeldt-jakob disease  sporadic  increased risk"]
["SPRN","creutzfeldt-jakob disease  variant"]
["PRNP","creutzfeldt-jakob syndrome  protection  association with"]
["PRNP","creutzfeldt-jakob syndrome  sporadic  association"]
["UGT1A1","crigler najjar syndrome, type 1"]
["UGT1A3","crigler najjar syndrome, type 1"]
["UGT1A3","crigler-najjar syndrome, type ii"]
["NELL1","crohn disease  association with"]
["CLEC2D","crohn's disease  association with"]
["IL16","crohn's disease  association with"]
["NCF4","crohn's disease  association with"]
["NLRP3","crohn's disease  association with"]
["PTGER4","crohn's disease  association with"]
["PTPN2","crohn's disease  association with"]
["NR2A1","crohn's disease  childhood onset  association with"]
["NCF4","crohn's disease  ileal  association with"]
["PGLYRP2","crohn's disease  increased risk"]
["PGLYRP4","crohn's disease  increased risk"]
["ATG16L1","crohn's disease  increased risk  association with"]
["CALCOCO2","crohn's disease  increased risk  association with"]
["HEATR3","crohn's disease  increased risk  association with"]
["PRDM1","crohn's disease  increased risk  association with"]
["IL10RA","crohn's disease  neonatal onset"]
["IL23R","crohn's disease  protection against"]
["SLC22A4","crohn's disease  susceptibility  association with"]
["SLC22A5","crohn's disease  susceptibility  association with"]
["CARD15","crohn's disease  susceptibility to"]
["IL23R","crohn's disease  susceptibility to"]
["NOD2","crohn's disease  susceptibility to"]
["CARD15","crohn's disease  susceptibility to  association"]
["IRGM","crohn's disease  susceptibility to  association"]
["NOD2","crohn's disease  susceptibility to  association"]
["TNFSF15","crohn's disease  susceptibility to  association"]
["NOD2","crohn's disease  susceptibility to  association with"]
["PGLYRP2","crohn's disease and ulcerative colitis  reduced risk"]
["CD55","cromer blood group system"]
["TNFSF13B","cryoglobulinemia  predisposition  association with"]
["SLC2A1","cryohydrocytosis  stomatin-deficient"]
["NLRP3","cryopyrin-associated periodic syndrome  atypical"]
["SEMA3A","crypt frequency in the iris  association with"]
["INSL3","cryptorchidism, unilateral or bilateral"]
["RXFP2","cryptorchidism, unilateral or bilateral"]
["NOG","cushing's symphalangism"]
["STK11","cutaneous malignant melanoma 1"]
["DUSP14","cutaneous melanoma  reduced risk"]
["MAFF","cutaneous melanoma  reduced risk"]
["BMP4","cutaneous melanoma  susceptibility to  association with"]
["EFEMP2","cutis laxa  arachnodactyly & vascular abnormalities"]
["PYCR1","cutis laxa  autosomal recessive"]
["ATP6V0A2","cutis laxa  autosomal recessive  type 2"]
["PYCR1","cutis laxa  autosomal recessive  type 2"]
["ALDH18A1","cutis laxa  autosomal recessive  type 3a"]
["ATP6V0A2","cutis laxa  dandy-walker malformation & microcephaly"]
["ATP6V0A2","cutis laxa  large anterior fontanel  asd  vsd  downslanting palpebral fissures & hernia"]
["LTBP4","cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities"]
["ALDH18A1","cutis laxa-corneal clouding-oligophrenia syndrome"]
["HBG2","cyanosis, transient neonatal"]
["CYBA","cyba polymorphism"]
["CYLD","cylindromatosis  familial"]
["CYP2A6","cyp2a6*11"]
["CYP2A6","cyp2a6, v1"]
["CYP2C8","cyp2c8 deficiency  association with"]
["CYP2E1","cyp2e1*6 allele"]
["CYP2F1","cyp2f1 deficiency"]
["CYP3A4","cyp3a4 promoter polymorphism"]
["CYP3A4","cyp3a4 variant"]
["CYP3A43","cyp3a43 null allele"]
["CYP3A4","cyp3a4-v"]
["CYP3A5","cyp3a5 deficiency  association with"]
["CYP4B1","cyp4b1 null allele"]
["CYP2A6","cypa6*2"]
["TGFB1","cystic fibrosis"]
["CFTR","cystic fibrosis  atypical"]
["CLCA1","cystic fibrosis  modifier of"]
["SCNN1A","cystic fibrosis  non-classic"]
["SCNN1B","cystic fibrosis  non-classic"]
["CFTR","cystic fibrosis & sickle cell-beta thalassaemia"]
["CHI3L1","cystic fibrosis lung disease  modifier of"]
["CFTR","cystic fibrosis related disorder"]
["FAS","cystic fibrosis severity  association with"]
["CTNS","cystinosis  benign"]
["CTNS","cystinosis  intermediate"]
["CTNS","cystinosis  late onset"]
["CTNS","cystinosis  nephropathic"]
["CTNS","cystinosis  nephropathic infantile"]
["CTNS","cystinosis  nephropathic infantile with congenital heart malformations"]
["CTNS","cystinosis  nephropathic juvenile"]
["CTNS","cystinosis  nephropathic late-onset"]
["CTNS","cystinosis  non-classical"]
["CTNS","cystinosis, atypical nephropathic"]
["SLC7A9","cystinuria  non-type i"]
["SLC7A9","cystinuria  type i"]
["SLC7A9","cystinuria  type i/iii"]
["SURF1","cytochrome c oxidase deficiency  association with"]
["GBA3","cytosolic beta-glucosidase deficiency  association"]
["COL2A1","czech dysplasia metatarsal type"]
["IDH2","d-2-hydroxyglutaric aciduria  type ii"]
["D2HGDH","d-2-hydroxyglutaric aciduria 1"]
["NPHP3","dandy-walker cyst with renal-hepatic-pancreatic dysplasia"]
["ATP2A2","darier disease  comedonal"]
["ATP2A2","darier disease, acral hemorrhagic type"]
["ATP2A2","darier disease, segmental"]
["ASIP","dark hair and brown eyes  association with"]
["OCA2","darker eye colour  association with"]
["DCLRE1C","dclre1c deficiency"]
["APOD","deafness"]
["ATP6V1B1","deafness"]
["C12orf64","deafness"]
["CCS","deafness"]
["CLU","deafness"]
["COL11A1","deafness"]
["COL2A1","deafness"]
["COL4A3","deafness"]
["COL4A4","deafness"]
["COL4A5","deafness"]
["COL9A1","deafness"]
["COL9A3","deafness"]
["EDN3","deafness"]
["EDNRB","deafness"]
["EYA1","deafness"]
["FBXO2","deafness"]
["KCNQ1","deafness"]
["LHFP","deafness"]
["LRP1","deafness"]
["MIA","deafness"]
["NDP","deafness"]
["TCOF1","deafness"]
["GRHL2","deafness  autosomal dominant"]
["TECTA","deafness  autosomal dominant"]
["TECTA","deafness  autosomal dominant 12"]
["COL11A2","deafness  autosomal dominant 13"]
["MYH9","deafness  autosomal dominant 17"]
["KCNQ4","deafness  autosomal dominant 2"]
["MYO6","deafness  autosomal dominant 22"]
["GJB2","deafness  autosomal dominant 3"]
["GJB6","deafness  autosomal dominant 3"]
["TECTA","deafness  autosomal dominant 8"]
["CLDN14","deafness  autosomal recessive"]
["DFNB31","deafness  autosomal recessive"]
["GJA1","deafness  autosomal recessive"]
["MYO6","deafness  autosomal recessive"]
["OTOA","deafness  autosomal recessive"]
["GJB2","deafness  autosomal recessive 1"]
["CDH23","deafness  autosomal recessive 12"]
["ATP2B2","deafness  autosomal recessive 12  modifier of"]
["TECTA","deafness  autosomal recessive 21"]
["OTOF","deafness  autosomal recessive 9"]
["SLC26A4","deafness  bilateral  with inner ear malformation"]
["TMPRSS3","deafness  childhood onset"]
["ACTG1","deafness  dominant progressive"]
["BSND","deafness  nonsyndromic"]
["C9orf75","deafness  nonsyndromic"]
["CDH23","deafness  nonsyndromic"]
["CIB2","deafness  nonsyndromic"]
["ELMOD3","deafness  nonsyndromic"]
["MYO7A","deafness  nonsyndromic"]
["SLC17A8","deafness  nonsyndromic"]
["CDH23","deafness  non-syndromic"]
["COCH","deafness  non-syndromic"]
["DFNB31","deafness  non-syndromic"]
["ESRRB","deafness  non-syndromic"]
["GPR98","deafness  non-syndromic"]
["LRTOMT","deafness  non-syndromic"]
["MARVELD2","deafness  non-syndromic"]
["MYO15A","deafness  non-syndromic"]
["MYO6","deafness  non-syndromic"]
["MYO7A","deafness  non-syndromic"]
["OTOF","deafness  non-syndromic"]
["PCDH15","deafness  non-syndromic"]
["POU4F3","deafness  non-syndromic"]
["SLC26A5","deafness  non-syndromic"]
["STRC","deafness  non-syndromic"]
["TECTA","deafness  non-syndromic"]
["TMC1","deafness  non-syndromic"]
["TRIOBP","deafness  non-syndromic"]
["USH2A","deafness  non-syndromic"]
["COCH","deafness  non-syndromic  autosomal dominant"]
["DFNA5","deafness  non-syndromic  autosomal dominant"]
["GJB3","deafness  non-syndromic  autosomal dominant"]
["MYO7A","deafness  non-syndromic  autosomal dominant"]
["POU4F3","deafness  non-syndromic  autosomal dominant"]
["TMC1","deafness  non-syndromic  autosomal dominant"]
["DIAPH1","deafness  non-syndromic  autosomal dominant 1"]
["GJB3","deafness  non-syndromic  autosomal recessive"]
["MSRB3","deafness  non-syndromic  autosomal recessive"]
["MYO15A","deafness  non-syndromic  autosomal recessive"]
["MYO7A","deafness  non-syndromic  autosomal recessive"]
["OTOF","deafness  non-syndromic  autosomal recessive"]
["PCDH15","deafness  non-syndromic  autosomal recessive"]
["SLC26A4","deafness  non-syndromic  autosomal recessive"]
["TMC1","deafness  non-syndromic  autosomal recessive"]
["TMPRSS3","deafness  non-syndromic  autosomal recessive"]
["GJB2","deafness  nonsyndromic sensorineural"]
["SLC17A8","deafness  nonsyndromic sensorineural 25"]
["MYO7A","deafness  sensorineural non-syndromic 11"]
["GJB2","deafness  unilateral"]
["FGF3","deafness with labyrinthine aplasia microtia and microdontia"]
["ACTG1","deafness, autosomal dominant 20"]
["CRYM","deafness, autosomal dominant nonsyndromic"]
["DSPP","deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1"]
["GJB3","deafness, autosomal recessive"]
["OTOG","deafness, autosomal recessive 18b"]
["RDX","deafness, autosomal recessive 24"]
["GRXCR1","deafness, autosomal recessive 25"]
["CLDN14","deafness, autosomal recessive 29"]
["DFNB59","deafness, autosomal recessive 59"]
["PNPT1","deafness, autosomal recessive 70"]
["MSRB3","deafness, autosomal recessive 74"]
["TPRN","deafness, autosomal recessive 79"]
["TMPRSS3","deafness, autosomal recessive 8"]
["CLPP","deafness, autosomal recessive 81"]
["OTOGL","deafness, autosomal recessive 84b"]
["ELMOD3","deafness, autosomal recessive 88"]
["KARS","deafness, autosomal recessive 89"]
["SERPINB6","deafness, autosomal recessive 91"]
["GJB2","deafness, digenic, gjb2/gjb3"]
["GJB2","deafness, digenic, gjb2/gjb6"]
["TRMU","deafness, mitochondrial, modifier of"]
["MARVELD2","deafness, neurosensory, autosomal recessive 49"]
["MYO15A","deafness, with smith-magenis syndrome"]
["ESPN","deafness, without vestibular involvement, autosomal dominant"]
["GJB2","deafness, x-linked 2"]
["CYP2D6","debrisoquine, poor metabolism of"]
["CYP2D6","debrisoquine, ultrarapid metabolism of"]
["CYP4F2","decreased 20-hete production  association with"]
["FFAR1","decreased activity"]
["MPG","decreased activity"]
["NQO1","decreased activity"]
["PLTP","decreased activity"]
["UGT1A4","decreased activity"]
["XDH","decreased activity"]
["CYP1A2","decreased activity in smokers"]
["ADCY6","decreased adenylyl cyclase activity"]
["SERPINB5","decreased apoptosis and increased colony formation in vitro"]
["TNFRSF11B","decreased bone mineral density  association"]
["CPA1","decreased cleavage rate"]
["LY96","decreased endotoxin binding"]
["HHIP","decreased enhancer activity"]
["MPZ","decreased enhancer activity"]
["CASP1","decreased enzyme activity"]
["EPHX2","decreased enzyme activity"]
["GCLC","decreased enzyme activity"]
["MTMR14","decreased enzyme activity"]
["SLCO2B1","decreased enzyme activity"]
["PNMT","decreased exercise-induced epinephrine levels  association"]
["ATP7B","decreased expression"]
["BLK","decreased expression"]
["CYSLTR1","decreased expression"]
["HES6","decreased expression"]
["F8","decreased factor viii activity"]
["ZNF202","decreased hdl cholesterol  association with"]
["APOD","decreased hdl3-c and apoa-i level in females"]
["TCN2","decreased holo tcii levels  association with"]
["MYOCD","decreased left ventricular mass  association with"]
["PPARA","decreased mortality  in diabetics with coronary ischaemia  association"]
["GRK5","decreased mortality in heart failure  association with"]
["ICOS","decreased mrna levels"]
["COL5A1","decreased mrna stability"]
["CPB2","decreased mrna stability"]
["MADD","decreased proinsulin concentration  association with"]
["ADRB2","decreased promoter activity"]
["FSHR","decreased promoter activity"]
["HSD17B1","decreased promoter activity"]
["KCNA3","decreased promoter activity"]
["KLF6","decreased promoter activity"]
["LIPG","decreased promoter activity"]
["RB1CC1","decreased promoter activity"]
["RPS3","decreased promoter activity"]
["THPO","decreased promoter activity"]
["KILLIN","decreased protein"]
["ARF4","decreased protein stability"]
["INMT","decreased protein stability"]
["PKM2","decreased protein stability"]
["PRMT3","decreased protein stability"]
["SULT1C1","decreased protein stability"]
["SULT4A1","decreased protein stability"]
["CD36","decreased serum free fa  association with"]
["POMC","decreased serum leptin levels in lean individuals"]
["SCNN1G","decreased systolic and pulse pressure  association"]
["CYP11B1","decreased transcription"]
["GSTK1","decreased transcription"]
["STS","decreased transcriptional activity"]
["XDH","decreased transcriptional activity"]
["LPA","decreased translation"]
["SLC6A2","decreased transport activity"]
["SLC22A2","decreased transporter function"]
["ADA","deep sleep  duration and intensity  association with"]
["F12","deep vein thrombosis"]
["FGA","deep vein thrombosis"]
["CYP4V2","deep vein thrombosis  reduced risk  association with"]
["FGG","deep venous thrombosis  increased risk  association with"]
["F9","deep venous thrombosis, protection against"]
["IRX5","defective craniofacial morphogenesis & heart  blood  bone & germ cell ontogeny"]
["ACADSB","deficiency of 2-methylbutyryl-coa dehydrogenase"]
["APRT","deficiency of amp pyrophorylase"]
["UPB1","deficiency of beta-ureidopropionase"]
["BCHE","deficiency of butyrylcholine esterase"]
["ACADS","deficiency of butyryl-coa dehydrogenase"]
["GLYCTK","deficiency of glycerate kinase"]
["ALDH4A1","deficiency of pyrroline-5-carboxylate reductase"]
["CYP11B1","deficiency of steroid 11-beta-monooxygenase"]
["GALT","deficiency of udpglucose-hexose-1-phosphate uridylyltransferase"]
["GJB1","dejerine-sottas disease"]
["EGR2","dejerine-sottas neuropathy, autosomal dominant"]
["MPZ","dejerine-sottas syndrome, autosomal dominant"]
["PMP22","dejerine-sottas syndrome, autosomal dominant"]
["MPZ","dejerine-sottas syndrome, sporadic"]
["NQO2","delayed memory recall  association with"]
["CXCL12","delayed onset of aids  association with"]
["AANAT","delayed sleep phase syndrome  association with"]
["AANAT","delayed sleep phase syndrome, susceptibility to"]
["HBD","delta-0-thalassemia"]
["HBD","delta-plus-thalassemia"]
["HBD","delta-zero-thalassemia, knossos type"]
["TREM2","dementia  early-onset  without bone cysts"]
["SERPINI1","dementia  familial"]
["C10orf2","dementia  late-onset"]
["PRNP","dementia  neurodegenerative"]
["PSEN1","dementia  pyramidal system involvement  and leukoencephalopathy"]
["PSEN1","dementia  with lysosomal inclusions"]
["ITM2B","dementia familial british"]
["GBA","dementia, lewy body, susceptibility to"]
["KCNJ11","dend syndrome  intermediate"]
["GATA2","dendritic cell  monocyte  b & nk lymphoid deficiency"]
["CD209","dengue disease  protection against  association with"]
["C8A","dense deposit disease"]
["DSPP","dental disorder  non-syndromic"]
["DSPP","denticles"]
["CR1","depression  association with"]
["P2RX7","depression  association with"]
["TPH1","depression  association with"]
["POLG","depression  ataxia and cardiomyopathy"]
["NGFR","depressive disorder  protection against  association with"]
["FLG","dermatitis, atopic, 2, susceptibility to"]
["SPINK5","dermatitis, atopic, 6, susceptibility to"]
["LEMD3","dermatofibrosis lenticularis disseminata"]
["LEMD3","dermatofibrosis lenticularis disseminata, isolated"]
["CANT1","desbuquois dysplasia"]
["CANT1","desbuquois dysplasia  kim variant"]
["CANT1","desbuquois dysplasia  type 1"]
["CANT1","desbuquois dysplasia  type 2"]
["CTNNB1","desmoid tumor, somatic"]
["OPN1MW","deutan color-vision deficiency  association with"]
["KARS","development delay  hypotonia & ophthalmoplegia"]
["COG8","developmental delay"]
["ABCC8","developmental delay  epilepsy & neonatal diabetes"]
["ASXL3","developmental delay  microcephaly  and craniofacial anomalies"]
["NGLY1","developmental delay  multifocal epilepsy & abnormal liver function"]
["ACTB","developmental malformations  sensory hearing loss & dystonia"]
["KCNQ4","dfna 2 nonsyndromic hearing loss"]
["TMC1","dfna36 hearing loss  association with"]
["GYPC","dh blood group"]
["HFE","diabetes"]
["ABCC8","diabetes  adult-onset"]
["ACACB","diabetes  association with"]
["ENPP1","diabetes  association with"]
["HNF1A","diabetes  association with"]
["MT1A","diabetes  association with"]
["HNF1B","diabetes  early onset  association"]
["HNF1B","diabetes  early onset  renal dysfunction"]
["FOXA2","diabetes  early-onset  mody"]
["GCK","diabetes  gestational"]
["HNF1A","diabetes  hydronephrosis & renal stone"]
["KCNJ11","diabetes  juvenile-onset"]
["PAX4","diabetes  ketosis-prone  increased risk"]
["ABCC8","diabetes  mody"]
["BLK","diabetes  mody"]
["GCK","diabetes  mody"]
["HNF1A","diabetes  mody"]
["HNF1B","diabetes  mody"]
["HNF4A","diabetes  mody"]
["INS","diabetes  mody"]
["KRT17","diabetes  mody"]
["NEUROD1","diabetes  mody"]
["NR2A1","diabetes  mody"]
["PASK","diabetes  mody"]
["PAX4","diabetes  mody"]
["PDX1","diabetes  mody"]
["HNF4A","diabetes  mody1"]
["NR2A1","diabetes  mody1"]
["GCK","diabetes  mody2"]
["HNF1A","diabetes  mody3"]
["HNF1B","diabetes  mody5"]
["ABCC8","diabetes  neonatal"]
["FOXP3","diabetes  neonatal"]
["INS","diabetes  neonatal"]
["KCNJ11","diabetes  neonatal"]
["RFX6","diabetes  neonatal  with intestinal atresia"]
["KCNJ11","diabetes  neonatal with neurological symptoms"]
["ABCC8","diabetes  neonatal/adult-onset"]
["ABCC8","diabetes  niddm"]
["GCK","diabetes  niddm"]
["GIPR","diabetes  niddm"]
["HK2","diabetes  niddm"]
["IAPP","diabetes  niddm"]
["INSR","diabetes  niddm"]
["IRS1","diabetes  niddm"]
["SLC2A2","diabetes  niddm"]
["SLC2A4","diabetes  niddm"]
["GCGR","diabetes  niddm  association with"]
["IRS1","diabetes  niddm  association with"]
["SLC2A2","diabetes  niddm  association with"]
["GCK","diabetes  niddm  increased risk"]
["SLC2A2","diabetes  niddm  susceptibility  association"]
["IRS1","diabetes  niddm  susceptibility to"]
["ABCC8","diabetes  permanent neonatal"]
["INS","diabetes  permanent neonatal"]
["KCNJ11","diabetes  permanent neonatal"]
["MNX1","diabetes  permanent neonatal"]
["NEUROD1","diabetes  permanent neonatal"]
["PDX1","diabetes  permanent neonatal"]
["NEUROG3","diabetes  permanent neonatal & enteric anendocrinosis"]
["NKX2-2","diabetes  permanent neonatal & neurological abnormalities"]
["SELL","diabetes  protection against  association with"]
["WNT5B","diabetes  suceptibility  association with"]
["ABCC8","diabetes  transient neonatal"]
["KCNJ11","diabetes  transient neonatal"]
["NPPB","diabetes  type  2  reduced risk  association with"]
["CBLB","diabetes  type 1"]
["INS","diabetes  type 1"]
["PRF1","diabetes  type 1"]
["SIRT1","diabetes  type 1"]
["WFS1","diabetes  type 1  and sensorineural hearing loss"]
["CLEC2D","diabetes  type 1  association with"]
["CTLA4","diabetes  type 1  association with"]
["IFIH1","diabetes  type 1  association with"]
["IL10","diabetes  type 1  association with"]
["IL2RA","diabetes  type 1  association with"]
["IL4R","diabetes  type 1  association with"]
["PAX4","diabetes  type 1  association with"]
["PTPN22","diabetes  type 1  association with"]
["SUMO4","diabetes  type 1  association with"]
["TAP2","diabetes  type 1  association with"]
["TBX21","diabetes  type 1  association with"]
["WFS1","diabetes  type 1  association with"]
["OAS1","diabetes  type 1  increased risk  association with"]
["XYLT1","diabetes  type 1  protection  association"]
["BTC","diabetes  type 1  protection against  association with"]
["IFIH1","diabetes  type 1  reduced risk"]
["GLIS3","diabetes  type 1  resistance to"]
["INS","diabetes  type 1b"]
["KCNJ11","diabetes  type 1b"]
["ADIPOQ","diabetes  type 2"]
["ATP2A3","diabetes  type 2"]
["INS","diabetes  type 2"]
["IRS2","diabetes  type 2"]
["ISL1","diabetes  type 2"]
["MAPK8IP1","diabetes  type 2"]
["MTNR1B","diabetes  type 2"]
["PAX4","diabetes  type 2"]
["SREBF1","diabetes  type 2"]
["WFS1","diabetes  type 2"]
["ABCC8","diabetes  type 2  association with"]
["ABCC9","diabetes  type 2  association with"]
["ADIPOQ","diabetes  type 2  association with"]
["APOM","diabetes  type 2  association with"]
["ARHGEF11","diabetes  type 2  association with"]
["ATF6","diabetes  type 2  association with"]
["CACNA1E","diabetes  type 2  association with"]
["CDC2L2","diabetes  type 2  association with"]
["DBI","diabetes  type 2  association with"]
["FABP6","diabetes  type 2  association with"]
["FTO","diabetes  type 2  association with"]
["GFPT1","diabetes  type 2  association with"]
["HHEX","diabetes  type 2  association with"]
["HNF1A","diabetes  type 2  association with"]
["INSR","diabetes  type 2  association with"]
["KCNJ11","diabetes  type 2  association with"]
["KLF7","diabetes  type 2  association with"]
["LIPC","diabetes  type 2  association with"]
["LPIN2","diabetes  type 2  association with"]
["MACF1","diabetes  type 2  association with"]
["MGEA5","diabetes  type 2  association with"]
["MTNR1B","diabetes  type 2  association with"]
["MTTP","diabetes  type 2  association with"]
["NEUROG3","diabetes  type 2  association with"]
["NR2A1","diabetes  type 2  association with"]
["PCSK2","diabetes  type 2  association with"]
["PIK3C2G","diabetes  type 2  association with"]
["PIK3R1","diabetes  type 2  association with"]
["PPARGC1A","diabetes  type 2  association with"]
["PTEN","diabetes  type 2  association with"]
["PYY","diabetes  type 2  association with"]
["RBP4","diabetes  type 2  association with"]
["RETN","diabetes  type 2  association with"]
["SLC2A2","diabetes  type 2  association with"]
["SLC30A8","diabetes  type 2  association with"]
["SOD3","diabetes  type 2  association with"]
["TCF7L2","diabetes  type 2  association with"]
["THADA","diabetes  type 2  association with"]
["UTS2","diabetes  type 2  association with"]
["GCK","diabetes  type 2  early-onset"]
["HNF1A","diabetes  type 2  early-onset"]
["NEUROD1","diabetes  type 2  early-onset"]
["TGM2","diabetes  type 2  early-onset"]
["KCNJ11","diabetes  type 2  early-onset autosomal dominant"]
["ADRB3","diabetes  type 2  increased risk"]
["PINK1","diabetes  type 2  increased risk"]
["CHRM3","diabetes  type 2  increased risk  association"]
["KCNQ1","diabetes  type 2  increased risk  association"]
["MTNR1B","diabetes  type 2  increased risk  association with"]
["PPARGC1A","diabetes  type 2  lower risk  association with"]
["LTA","diabetes  type 2  protection  association"]
["PTGES2","diabetes  type 2  reduced risk"]
["EXT2","diabetes  type 2  reduced risk  association with"]
["MAP4K5","diabetes  type 2  reduced risk  association with"]
["PYY","diabetes  type 2  reduced risk  association with"]
["LARS2","diabetes  type 2  risk  association with"]
["BTC","diabetes  type 2  susceptibility  association with"]
["EEA1","diabetes  type 2  susceptibility to"]
["IAPP","diabetes  type 2  susceptibility to  association"]
["RXRG","diabetes  type 2  susceptibility to  association"]
["UCP1","diabetes  type 2  susceptibility to  association"]
["NPY","diabetes  type ii   in middle-aged subjects  association with"]
["IRS2","diabetes in overweight people  association with"]
["AVP","diabetes insipidus  central"]
["AVPR2","diabetes insipidus  central"]
["AQP2","diabetes insipidus  nephrogenic"]
["AVPR2","diabetes insipidus  nephrogenic"]
["AVP","diabetes insipidus  neurohypophyseal"]
["AVP","diabetes insipidus  neurohypophyseal  late-onset"]
["AQP2","diabetes insipidus, nephrogenic, autosomal dominant"]
["AQP2","diabetes insipidus, nephrogenic, autosomal recessive"]
["AVP","diabetes insipidus, neurohypophyseal, autosomal recessive"]
["GCK","diabetes mellitus  neonatal"]
["KCNJ11","diabetes mellitus  neonatal"]
["GATA6","diabetes mellitus  permanent neonatal"]
["KCNJ11","diabetes mellitus  permanent neonatal  association with"]
["GCK","diabetes mellitus  post transplant"]
["ABCC8","diabetes mellitus  protection against"]
["SLC2A2","diabetes mellitus  transient neonatal"]
["ZFP57","diabetes mellitus  transient neonatal"]
["GH1","diabetes mellitus  type 1"]
["HNF1A","diabetes mellitus  type 1"]
["NEUROD1","diabetes mellitus  type 1  association with"]
["APOE","diabetes mellitus  type 2"]
["CAT","diabetes mellitus  type 2"]
["FN3K","diabetes mellitus  type 2"]
["GCK","diabetes mellitus  type 2"]
["GPD2","diabetes mellitus  type 2"]
["HMGA1","diabetes mellitus  type 2"]
["HNF1A","diabetes mellitus  type 2"]
["HNF1B","diabetes mellitus  type 2"]
["HNF4A","diabetes mellitus  type 2"]
["IRS1","diabetes mellitus  type 2"]
["KLF11","diabetes mellitus  type 2"]
["NEUROD1","diabetes mellitus  type 2"]
["NR2A1","diabetes mellitus  type 2"]
["PDX1","diabetes mellitus  type 2"]
["ACSL1","diabetes mellitus  type 2  association with"]
["ADIPOQ","diabetes mellitus  type 2  association with"]
["CLPS","diabetes mellitus  type 2  association with"]
["GCK","diabetes mellitus  type 2  association with"]
["INSR","diabetes mellitus  type 2  association with"]
["KCNJ15","diabetes mellitus  type 2  association with"]
["KLF11","diabetes mellitus  type 2  association with"]
["NEUROD1","diabetes mellitus  type 2  association with"]
["PCK1","diabetes mellitus  type 2  association with"]
["PDX1","diabetes mellitus  type 2  association with"]
["TNF","diabetes mellitus  type 2  association with"]
["FABP2","diabetes mellitus  type 2  reduced risk"]
["PDX1","diabetes mellitus  type 2 & gestational"]
["AKR1B1","diabetes mellitus  without diabetic complications"]
["ABCC8","diabetes mellitus 2  association with"]
["CAPN10","diabetes mellitus 2  association with"]
["CD38","diabetes mellitus 2  association with"]
["KCNJ11","diabetes mellitus 2  association with"]
["OGG1","diabetes mellitus 2  association with"]
["CPE","diabetes mellitus 2  early onset  association with"]
["PDX1","diabetes mellitus 2  reduced risk  association with"]
["CAPN10","diabetes mellitus type 2"]
["ENPP1","diabetes mellitus type 2"]
["GCGR","diabetes mellitus type 2"]
["IGF2BP2","diabetes mellitus type 2"]
["KCNJ11","diabetes mellitus type 2"]
["SLC30A8","diabetes mellitus type 2"]
["TCF7L2","diabetes mellitus type 2"]
["INS","diabetes mellitus with hyperinsulinemia"]
["ABCC8","diabetes mellitus with reactive hypoglycaemia"]
["GCK","diabetes mellitus, gestational"]
["SUMO4","diabetes mellitus, insulin-dependent, 5"]
["CTLA4","diabetes mellitus, insulin-dependent, susceptibility to"]
["INSR","diabetes mellitus, insulin-resistant"]
["PAX4","diabetes mellitus, ketosis-prone, susceptibility to"]
["WFS1","diabetes mellitus, noninsulin-dependent, association with"]
["GCK","diabetes mellitus, noninsulin-dependent, late-onset"]
["PPARG","diabetes mellitus, noninsulin-dependent, modifier of"]
["ABCC8","diabetes mellitus, permanent neonatal, with neurologic features"]
["OAS1","diabetes mellitus, type 1, susceptibility to"]
["MTNR1B","diabetes mellitus, type 2, susceptibility to"]
["KCNJ11","diabetes mellitus, type ii, autosomal dominant"]
["HNF1A","diabetes mellitus, type ii, susceptibility to"]
["PDX1","diabetes mellitus, type ii, susceptibility to"]
["IRS2","diabetes, type ii, susceptibility to"]
["EPO","diabetic eye and kidney complications  association with"]
["GFPT2","diabetic nephropathy  association with"]
["MCF2L2","diabetic nephropathy  association with"]
["NCALD","diabetic nephropathy  association with"]
["NCK1","diabetic nephropathy  association with"]
["PLXND1","diabetic nephropathy  association with"]
["RAET1L","diabetic nephropathy  association with"]
["SLC12A3","diabetic nephropathy  association with"]
["PARP1","diabetic polyneuropathy  reduced risk  association with"]
["AGER","diabetic retinopathy  association with"]
["VEGFA","diabetic retinopathy  association with"]
["MPL","diamond-blackfan anaemia  modifier of"]
["DISP1","diaphragmatic hernia  congenital"]
["FREM1","diaphragmatic hernia  congenital"]
["HLX","diaphragmatic hernia  congenital"]
["PDGFRA","diaphragmatic hernia  congenital"]
["ZFPM2","diaphragmatic hernia  congenital"]
["GUCY2C","diarrhea 6"]
["LTF","diarrhea in travellers  reduced risk  association with"]
["SLC26A3","diarrhoea  congenital chloride"]
["NEUROG3","diarrhoea 4  malabsorptive  congenital"]
["GUCY2C","diarrhoea syndrome  familial"]
["SLC4A1","diego blood group antigen"]
["ACSL5","diet response in obese subjects  association with"]
["WWOX","differentiated thyroid carcinoma  association with"]
["CDC42BPB","diffuse large b-cell lymphoma  association"]
["LNX2","diffuse large b-cell lymphoma  reduced risk"]
["DPYS","dihydropyrimidinase deficiency"]
["DPYD","dihydropyrimidine dehydrogenase deficiency  partial"]
["FOXD4","dilated cardiomyopathy  ocd and suicidality"]
["DSP","dilated cardiomyopathy  woolly hair  keratoderma"]
["ACTN2","dilated cardiomyopathy 1aa"]
["LDB3","dilated cardiomyopathy 1c"]
["NEXN","dilated cardiomyopathy 1cc"]
["RBM20","dilated cardiomyopathy 1dd"]
["SCN5A","dilated cardiomyopathy 1e"]
["MYH6","dilated cardiomyopathy 1ee"]
["TNNI3","dilated cardiomyopathy 1ff"]
["TTN","dilated cardiomyopathy 1g"]
["SDHA","dilated cardiomyopathy 1gg"]
["BAG3","dilated cardiomyopathy 1hh"]
["DES","dilated cardiomyopathy 1i"]
["CRYAB","dilated cardiomyopathy 1ii"]
["SGCD","dilated cardiomyopathy 1l"]
["CSRP3","dilated cardiomyopathy 1m"]
["TCAP","dilated cardiomyopathy 1n"]
["ABCC9","dilated cardiomyopathy 1o"]
["PLN","dilated cardiomyopathy 1p"]
["ACTC1","dilated cardiomyopathy 1r"]
["MYH7","dilated cardiomyopathy 1s"]
["VCL","dilated cardiomyopathy 1w"]
["FKTN","dilated cardiomyopathy 1x"]
["TPM1","dilated cardiomyopathy 1y"]
["TNNC1","dilated cardiomyopathy 1z"]
["DNAJC19","dilated cardiomyopathy syndrome"]
["LDB3","dilated cardiomyopathy with left ventricular noncompaction"]
["GLE1","dimelia  attenuated"]
["IMPDH2","diminished enzyme activity"]
["IL10RA","diminished inhibitory effect on tnf-alpha production  association"]
["BAX","disease progression in chronic lymphocytic leukaemia  association with"]
["AR","disorder of sex development"]
["AKR1C2","disorder of sexual development  in males"]
["AKR1C4","disorder of sexual development  in males"]
["CYP19A1","disorder of sexual differentiation"]
["POR","disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency"]
["IFNGR1","disseminated atypical mycobacterial infection"]
["IFNGR2","disseminated atypical mycobacterial infection"]
["STAT1","disseminated atypical mycobacterial infection"]
["MYH3","distal arthrogryposis syndrome 2b"]
["HSPB8","distal hereditary motor neuronopathy type 2a"]
["HSPB1","distal hereditary motor neuronopathy type 2b"]
["HSPB3","distal hereditary motor neuronopathy type 2c"]
["BSCL2","distal hereditary motor neuronopathy type 5"]
["GARS","distal hereditary motor neuronopathy type 5"]
["DCTN1","distal hereditary motor neuronopathy type 7b"]
["MYH7","distal myopathy  laing"]
["TTN","distal myopathy markesbery-griggs type"]
["CAV3","distal myopathy, tateyama type"]
["ATP6V0A4","distal renal tubular acidosis  autosomal recessive"]
["PLEKHG5","distal spinal muscular atrophy, autosomal recessive 4"]
["TRPV4","distal spinal muscular atrophy, congenital nonprogressive"]
["ATP7A","distal spinal muscular atrophy, x-linked 3"]
["KIAA0334","diurnal preference  association with"]
["PER1","diurnal preference  association with"]
["PER3","diurnal preference  association with"]
["XPC","dna damage in coke oven workers  association with"]
["XPC","dna repair rate  association with"]
["TOP1","dna topoisomerase i, camptothecin-resistant"]
["TOP2A","dna topoisomerase ii, resistance to inhibition of, by amsacrine"]
["DOCK8","dock8 deficiency"]
["ART4","dombrock blood group"]
["ART4","dombrock-null phenotype"]
["LRP2","donnai barrow syndrome"]
["ANKK1","dopamine receptor d2, reduced brain density of"]
["DRD4","dopamine receptor d4 polymorphism"]
["GDF1","double outlet right ventricle"]
["POFUT1","dowling-degos disease  generalised"]
["POFUT1","dowling-degos disease 2"]
["MTRR","down syndrome, susceptibility to"]
["JSRP1","downregulates activity of dhpr and affects skeletal muscle excitation-contraction coupling"]
["EDNRB","down's syndrome/hscr phenotype  association with"]
["SCN1A","dravet syndrome  atypical"]
["CHD2","dravet syndrome-like myoclonic epileptic encephalopathy"]
["HTR2B","drug abuse  association with"]
["PTPRB","drug addiction  association with"]
["FAAH","drug addiction, susceptibility to"]
["OPRM1","drug intake  association with"]
["FAAH","drug/alcohol abuse  association with"]
["CFH","drusen  basal laminar"]
["ASPRV1","dry skin / eczema"]
["CHN1","duane syndrome type 2"]
["SALL4","duane-radial ray syndrome"]
["DMD","duchenne muscular dystrophy, mental retardation, and absence of erg b-wave"]
["DARC","duffy blood group antigen  absence"]
["DARC","duffy blood group system, fy"]
["DARC","duffy blood group system, fya/fyb polymorphism"]
["ALB","dysalbuminaemic hyperthyroxinaemia  familial"]
["IKBKAP","dysautonomia  familial"]
["APOE","dysbetalipoproteinemia due to apoe2"]
["ABCB6","dyschromatosis universalis hereditaria 3"]
["GATA1","dyserythropoietic anemia with thrombocytopenia"]
["DYSF","dysferlinopathy  proximodistal"]
["DYSF","dysferlinopathy  pseudometabolic"]
["FGA","dysfibrinogenemia causing bleeding diathesis"]
["C17orf68","dyskeratosis congenita"]
["KIAA1088","dyskeratosis congenita"]
["TERC","dyskeratosis congenita  autosomal dominant"]
["NOP10","dyskeratosis congenita  autosomal recessive"]
["DKC1","dyskeratosis congenita  x-linked"]
["TERT","dyskeratosis congenita autosomal dominant"]
["TINF2","dyskeratosis congenita autosomal dominant"]
["NHP2","dyskeratosis congenita autosomal recessive"]
["NOP10","dyskeratosis congenita autosomal recessive"]
["TERT","dyskeratosis congenita autosomal recessive"]
["DKC1","dyskeratosis congenita x-linked"]
["TERT","dyskeratosis congenita, autosomal dominant, 2"]
["TINF2","dyskeratosis congenita, autosomal dominant, 3"]
["RTEL1","dyskeratosis congenita, autosomal dominant, 4"]
["NHP2","dyskeratosis congenita, autosomal recessive 2"]
["WRAP53","dyskeratosis congenita, autosomal recessive, 3"]
["TERT","dyskeratosis congenita, autosomal recessive, 4"]
["RTEL1","dyskeratosis congenita, autosomal recessive, 5"]
["NKX2-1","dyskinesia  respiratory distress  hypothyrotropinaemia"]
["DYX1C1","dyslexia  association with"]
["KIAA0319","dyslexia  association with"]
["DYX1C1","dyslexia 1"]
["LCAT","dyslipidaemia  risk  association with"]
["LIPC","dyslipidaemia and insulin resistance  association"]
["DSG2","dysplasia  arrhythmogenic right ventricular"]
["DSP","dysplasia  arrhythmogenic right ventricular"]
["HBB","dyspnea  progressive"]
["F2","dysprothrombinemia prothrombin himi-ii"]
["HSPG2","dyssegmental dysplasia  silverman-handmaker type"]
["COL2A1","dysspondyloenchondromatosis"]
["THAP1","dystonia  cervical"]
["GCH1","dystonia  dopa-responsive"]
["PARK2","dystonia  dopa-responsive"]
["SPR","dystonia  dopa-responsive"]
["TH","dystonia  dopa-responsive"]
["THAP1","dystonia  early-onset"]
["TOR1A","dystonia  focal"]
["THAP1","dystonia  generalised"]
["TH","dystonia  l-dopa-responsive"]
["GCH1","dystonia  paroxysmal exercise-induced"]
["GNAL","dystonia  primary  adult-onset"]
["GNAL","dystonia  primary torsion"]
["THAP1","dystonia  primary torsion"]
["GCH1","dystonia  progressive"]
["TOR1A","dystonia  segmental"]
["PANK2","dystonia  sudden-onset"]
["TOR1A","dystonia 1"]
["TOR1A","dystonia 1, torsion, late-onset"]
["TOR1A","dystonia 1, torsion, modifier of"]
["PRRT2","dystonia 10"]
["ANO3","dystonia 24"]
["GNAL","dystonia 25"]
["TUBB4","dystonia 4"]
["GCH1","dystonia 5, dopa-responsive type"]
["THAP1","dystonia 6  torsion"]
["GCH1","dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive"]
["PLA2G6","dystonia-parkinsonism  adult-onset  levodopa-responsive"]
["PACT","dystonia-parkinsonism  early-onset"]
["SLC6A3","dystonia-parkinsonism  infantile"]
["ATP1A3","dystonia-parkinsonism  levodopa-responsive"]
["ATP1A3","dystonia-parkinsonism  rapid-onset"]
["GDF9","dz twinning  association with"]
["ATG7","earlier onset in huntington disease  association with"]
["KL","early dysfunction in vascular access in haemodialysis  association"]
["PNKP","early infantile epileptic encephalopathy 10"]
["SCN8A","early infantile epileptic encephalopathy 13"]
["KCNT1","early infantile epileptic encephalopathy 14"]
["TBC1D24","early infantile epileptic encephalopathy 16"]
["GNAO1","early infantile epileptic encephalopathy 17"]
["SZT2","early infantile epileptic encephalopathy 18"]
["CDKL5","early infantile epileptic encephalopathy 2"]
["STXBP1","early infantile epileptic encephalopathy 4"]
["KCNQ2","early infantile epileptic encephalopathy 7"]
["ARHGEF9","early infantile epileptic encephalopathy 8"]
["PCDH19","early infantile epileptic encephalopathy 9"]
["XIAP","early onset  in wilson disease"]
["ABCC11","earwax type  association with"]
["CNR2","eating disorders  association with"]
["KRT85","ectodermal dyplasia  hair-nail type"]
["NFKBIA","ectodermal dysplasia  anhidrotic with immune deficiency"]
["EDAR","ectodermal dysplasia  anhydrotic"]
["PVRL1","ectodermal dysplasia  cleft lip / palate"]
["HOXC13","ectodermal dysplasia  hair-nail type"]
["EDA","ectodermal dysplasia  hypohidrotic"]
["EDAR","ectodermal dysplasia  hypohidrotic"]
["EDARADD","ectodermal dysplasia  hypohidrotic"]
["IKBKG","ectodermal dysplasia  hypohidrotic"]
["TRAF6","ectodermal dysplasia  hypohidrotic"]
["EDA","ectodermal dysplasia  hypohidrotic & inability to sweat"]
["NFKBIA","ectodermal dysplasia  with immunodeficiency"]
["EDAR","ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant"]
["EDARADD","ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant"]
["EDARADD","ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive"]
["PKP1","ectodermal dysplasia skin fragility syndrome"]
["KRT85","ectodermal dysplasia, 'pure' hair-nail type"]
["ADAMTSL4","ectopia lentis  isolated form"]
["FBN1","ectopia lentis  isolated form"]
["ADAMTSL4","ectopia lentis, isolated autosomal recessive"]
["FBN1","ectopia lentis, isolated, autosomal dominant"]
["CMA1","eczema  association with"]
["ADRB2","eczema  atopic"]
["TLR9","eczema  atopic  association with"]
["CYP2B6","efavirenz central nervous system toxicity, susceptibility to"]
["CYP2B6","efavirenz, poor metabolism of"]
["TNXB","ehlers-danlos syndrome  autosomal recessive"]
["FKBP14","ehlers-danlos syndrome  autosomal recessive  variant"]
["COL1A2","ehlers-danlos syndrome  hypermobile"]
["CHST14","ehlers-danlos syndrome  kosho type"]
["DSE","ehlers-danlos syndrome  musculocontractural"]
["B3GALT6","ehlers-danlos syndrome  progeroid type"]
["B4GALT7","ehlers-danlos syndrome  progeroid type"]
["SLC39A13","ehlers-danlos syndrome  spondylocheiro dysplastic form"]
["COL3A1","ehlers-danlos syndrome  vascular-type"]
["FLNA","ehlers-danlos syndrome & heterotopia  periventricular"]
["COL3A1","ehlers-danlos syndrome iii"]
["COL3A1","ehlers-danlos syndrome iv  vascular-type"]
["B4GALT7","ehlers-danlos syndrome progeroid type"]
["PLOD1","ehlers-danlos syndrome via  kyphoscoliotic type"]
["COL1A2","ehlers-danlos syndrome, autosomal recessive, cardiac valvular form"]
["CHST14","ehlers-danlos syndrome, musculocontractural type"]
["B3GALT6","ehlers-danlos syndrome, progeroid type, 2"]
["COL3A1","ehlers-danlos syndrome, type 4 variant"]
["COL1A2","ehlers-danlos syndrome, type 7b"]
["ADAMTS2","ehlers-danlos syndrome, type 7c"]
["PTH1R","eiken syndrome"]
["RET","elevated basal serum calcitonin"]
["SOD3","elevated extracellular sod  association"]
["PON2","elevated fasting plasma glucose  association in niddm"]
["APOA1","elevated hdl-cholesterol  association with"]
["TBXA2R","elevated ige level in atopic dermatitis patients  association"]
["PPARA","elevated plasma lipid concentration  association in diabetes"]
["ADORA3","elevated sert activity"]
["APOA1","elevated serum apoa1  association with"]
["SYNE1","emery-dreifuss muscular dystrophy 4, autosomal dominant"]
["SYNE2","emery-dreifuss muscular dystrophy 5, autosomal dominant"]
["FHL1","emery-dreifuss muscular dystrophy 6"]
["TMEM43","emery-dreifuss muscular dystrophy 7, autosomal dominant"]
["LMNA","emery-dreifuss muscular dystrophy, atypical, autosomal recessive"]
["EMD","emery-dreifuss muscular dystrophy, x-linked"]
["EPHX1","emphysema, susceptibility to"]
["RMND1","encephaloneuromyopathy  infantile"]
["RANBP2","encephalopathy  acute necrotising"]
["MECP2","encephalopathy  congenital severe"]
["SLC19A3","encephalopathy  early-infantile  lethal"]
["C10orf2","encephalopathy  early-onset"]
["ETHE1","encephalopathy  ethylmalonic"]
["PRNP","encephalopathy  familial"]
["SCO1","encephalopathy  infantile"]
["TLR3","encephalopathy  influenza-associated"]
["CPT2","encephalopathy, acute, infection-induced, 4, susceptibility to"]
["RANBP2","encephalopathy, acute, infection-induced, susceptibility to, 3"]
["MECP2","encephalopathy, neonatal severe, due to mecp2 mutation"]
["COX10","encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to mitochondrial complex iv deficiency"]
["PGR","endometrial cancer  increased risk  association"]
["MGMT","endometrial cancer risk  association with"]
["FGFR2","endometrial cancer, somatic"]
["MLH3","endometrial carcinoma"]
["MUTYH","endometrial carcinoma"]
["CDH1","endometrial carcinoma, somatic"]
["BRCA1","endometriosis  association with"]
["HSD17B1","endometriosis  association with"]
["FGF2","endometriosis and adenomyosis  decreased risk  association with"]
["AHRR","endometriosis susceptibility and severity  association with"]
["MAN1B1","end-stage liver disease  early onset  association with"]
["SLC6A4","enhanced 5-ht transport activity"]
["ABCC8","enhanced insulin secretion in pregnancy  association"]
["CYB5R4","enhanced intracellular degradation"]
["WWC1","enhanced memory"]
["SLC11A1","enhanced promoter activity"]
["THPO","enhanced promoter activity"]
["NR2E3","enhanced s-cone syndrome"]
["FOXI1","enlarged vestibular aqueduct syndrome"]
["KCNJ10","enlarged vestibular aqueduct syndrome"]
["SLC26A4","enlarged vestibular aqueduct syndrome"]
["NEUROG3","enteric anendocrinosis"]
["IL10RA","enterocolitis  early-onset"]
["IL10RB","enterocolitis  early-onset"]
["TMPRSS15","enterokinase deficiency"]
["MC1R","ephelides  increased risk  association with"]
["HRAS","epidermal nevus with urothelial cancer, somatic"]
["STK4","epidermodysplasia verruciformis - human papillomavirus infections  susceptibility to"]
["TMC8","epidermodysplasia verruciformis  susceptibility in hiv  association"]
["COL17A1","epidermolysis bullosa  atrophic benign"]
["LAMB3","epidermolysis bullosa  atrophic benign"]
["KRT14","epidermolysis bullosa  dowling-meara"]
["KRT5","epidermolysis bullosa  dowling-meara"]
["COL17A1","epidermolysis bullosa  herlitz"]
["LAMA3","epidermolysis bullosa  herlitz"]
["LAMB3","epidermolysis bullosa  herlitz"]
["LAMC2","epidermolysis bullosa  herlitz"]
["COL17A1","epidermolysis bullosa  junctional"]
["ITGA6","epidermolysis bullosa  junctional"]
["ITGB4","epidermolysis bullosa  junctional"]
["LAMA3","epidermolysis bullosa  junctional"]
["LAMB3","epidermolysis bullosa  junctional"]
["LAMC2","epidermolysis bullosa  junctional"]
["COL17A1","epidermolysis bullosa  junctional  generalised"]
["COL17A1","epidermolysis bullosa  junctional  late-onset"]
["COL17A1","epidermolysis bullosa  junctional  localised"]
["COL17A1","epidermolysis bullosa  junctional with prurigo-like lesions"]
["KRT14","epidermolysis bullosa  koebner"]
["KRT5","epidermolysis bullosa  koebner"]
["DSP","epidermolysis bullosa  lethal acantholytic"]
["JUP","epidermolysis bullosa  lethal congenital"]
["KRT5","epidermolysis bullosa  modifier of"]
["COL7A1","epidermolysis bullosa  pretibial"]
["COL7A1","epidermolysis bullosa  recessive dystrophic"]
["KRT14","epidermolysis bullosa  weber-cockayne"]
["KRT5","epidermolysis bullosa  weber-cockayne"]
["ITGB4","epidermolysis bullosa  without pyloric atresia"]
["COL7A1","epidermolysis bullosa dystrophica  inversus type"]
["COL7A1","epidermolysis bullosa dystrophica  pasini type"]
["COL7A1","epidermolysis bullosa dystrophica inversa, autosomal recessive"]
["COL7A1","epidermolysis bullosa dystrophica, autosomal recessive, localisata variant"]
["KRT14","epidermolysis bullosa herpetiformis, dowling-meara"]
["KRT5","epidermolysis bullosa herpetiformis, dowling-meara"]
["COL7A1","epidermolysis bullosa pruriginosa, autosomal dominant"]
["COL7A1","epidermolysis bullosa pruriginosa, autosomal recessive"]
["DST","epidermolysis bullosa simplex  autosomal recessive"]
["KRT5","epidermolysis bullosa simplex  with verrucous carcinoma"]
["PLEC","epidermolysis bullosa simplex with pyloric atresia"]
["KRT14","epidermolysis bullosa simplex, cockayne-touraine type"]
["KRT5","epidermolysis bullosa simplex, cockayne-touraine type"]
["KRT5","epidermolysis bullosa simplex, dowling-meara type, with severe palmoplantar keratoderma"]
["KRT5","epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis"]
["KRT14","epidermolysis bullosa simplex, koebner type"]
["KRT5","epidermolysis bullosa simplex, koebner type"]
["PLEC","epidermolysis bullosa simplex, ogna type"]
["PLEC1","epidermolysis bullosa with muscular dystrophy"]
["COL17A1","epidermolysis bullosa, junctional, localisata variant"]
["LAMB3","epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant"]
["COL7A1","epidermolysis bullosa, pretibial, autosomal recessive"]
["KRT1","epidermolytic hyperkeratosis  association with"]
["KRT10","epidermolytic ichthyosis  annular"]
["TSC2","epilepsy"]
["HCN2","epilepsy  association with"]
["OPRM1","epilepsy  association with"]
["KCNJ10","epilepsy  ataxia  sensorineural deafness and tubulopathy"]
["KCNQ2","epilepsy  benign neonatal"]
["KCNQ3","epilepsy  benign neonatal"]
["CACNA1H","epilepsy  childhood absence"]
["CACNA1H","epilepsy  childhood absence  association with"]
["GABRB3","epilepsy  childhood absence  association with"]
["GABRG2","epilepsy  childhood absence with febrile seizures"]
["GRIN2A","epilepsy  childhood-onset"]
["HSD17B10","epilepsy  choreoathetosis & mental retardation  x-linked"]
["SCN3A","epilepsy  cryptogenic pediatric partial"]
["ARX","epilepsy  early-onset"]
["CDKL5","epilepsy  early-onset"]
["PCDH19","epilepsy  early-onset"]
["DEPDC5","epilepsy  familial focal with variable foci"]
["DEPDC5","epilepsy  familial temporal lobe"]
["LGI1","epilepsy  focal idiopathic"]
["SPTAN1","epilepsy  generalised  and pontocerebellar atrophy"]
["SCN1B","epilepsy  generalised  with febrile seizures"]
["CACNA1A","epilepsy  idiopathic"]
["CHRNA2","epilepsy  idiopathic"]
["CHRNB2","epilepsy  idiopathic"]
["ClC-2","epilepsy  idiopathic"]
["CLCN2","epilepsy  idiopathic"]
["GABRA1","epilepsy  idiopathic"]
["KCNQ3","epilepsy  idiopathic"]
["SCN1A","epilepsy  idiopathic"]
["SCN1B","epilepsy  idiopathic"]
["SCN2A","epilepsy  idiopathic"]
["CASR","epilepsy  idiopathic generalised"]
["GABRA1","epilepsy  idiopathic generalised"]
["GABRG2","epilepsy  idiopathic generalised"]
["HCN2","epilepsy  idiopathic generalised"]
["SCN2A","epilepsy  idiopathic generalised"]
["SLC2A1","epilepsy  idiopathic generalised"]
["SLC4A3","epilepsy  idiopathic generalised  association with"]
["FARS2","epilepsy  infantile-onset"]
["TNK2","epilepsy  infantile-onset"]
["LGI1","epilepsy  lateral temporal lobe  autosomal dominant"]
["LGI1","epilepsy  lateral temporal lobe  with migraine-like episodes"]
["CHRNA4","epilepsy  nocturnal frontal lobe"]
["CHRNB2","epilepsy  nocturnal frontal lobe"]
["DEPDC5","epilepsy  nocturnal frontal lobe  autosomal dominant"]
["CHRNB2","epilepsy  nocturnal frontal lobe & distinct memory deficits"]
["LGI1","epilepsy  partial  with auditory features"]
["LGI1","epilepsy  partial  with telephone-induced seizures"]
["NEDD4L","epilepsy  photosensitive generalised"]
["KCTD7","epilepsy  progressive myoclonic"]
["CLN6","epilepsy  progressive myoclonus"]
["COL6A2","epilepsy  progressive myoclonus"]
["CSTB","epilepsy  progressive myoclonus"]
["EPM2A","epilepsy  progressive myoclonus"]
["SCARB2","epilepsy  progressive myoclonus  late-onset"]
["CLN8","epilepsy  progressive with mental retardation"]
["ALDH7A1","epilepsy  pyridoxine-dependent"]
["GABRD","epilepsy  risk  association with"]
["A2BP1","epilepsy  rolandic"]
["HRNBP3","epilepsy  rolandic"]
["KCNQ2","epilepsy  rolandic & benign neonatal convulsions"]
["KCNQ3","epilepsy  rolandic & benign neonatal convulsions"]
["KCNQ2","epilepsy  rolandic without neonatal seizures"]
["KCNQ3","epilepsy  rolandic without neonatal seizures"]
["GABRG2","epilepsy  susceptibility to"]
["KCND2","epilepsy  temporal lobe"]
["PIGO","epilepsy  vitamin b6-responsive"]
["CHRNA2","epilepsy  with nocturnal wandering and ictal fear"]
["CASK","epilepsy & pontocerebellar hypoplasia"]
["EFHC1","epilepsy juvenile absence"]
["CLCN2","epilepsy with grand mal seizures on awakening"]
["GABRG2","epilepsy, childhood absence 2"]
["GABRB3","epilepsy, childhood absence 5"]
["CACNA1H","epilepsy, childhood absence 6"]
["PRNP","epilepsy, focal, due to cortical malformation, susceptibility to"]
["CACNB4","epilepsy, generalized idiopathic 9"]
["GABRD","epilepsy, idiopathic generalized 10"]
["CACNA1H","epilepsy, idiopathic generalized 6"]
["CASR","epilepsy, idiopathic generalized 8"]
["SLC2A1","epilepsy, idiopathic generalized, susceptibility to, 12"]
["GABRA1","epilepsy, juvenile myoclonic 5"]
["CACNB4","epilepsy, juvenile myoclonic 6"]
["GABRD","epilepsy, juvenile myoclonic 7"]
["CLCN2","epilepsy, juvenile myoclonic 8"]
["KCNT1","epilepsy, nocturnal frontal lobe, 5"]
["DEPDC5","epilepsy, partial, with variable foci"]
["SCARB2","epilepsy, progressive myoclonic 4, with or without renal failure"]
["PRICKLE2","epilepsy, progressive myoclonic 5"]
["GRIN2A","epilepsy-aphasia syndrome"]
["CDKL5","epileptic encephalopathy"]
["GNAO1","epileptic encephalopathy"]
["GRIN2A","epileptic encephalopathy"]
["KCNH5","epileptic encephalopathy"]
["GRIN2A","epileptic encephalopathy  abnormal eeg & developmental delay"]
["GRIN2A","epileptic encephalopathy  atypical rolandic epilepsy  dysphasia"]
["GRIN2A","epileptic encephalopathy  atypical rolandic epilepsy  verbal dyspraxia"]
["GRIN2A","epileptic encephalopathy  benign childhood epilepsy"]
["KIAA0424","epileptic encephalopathy  early infantile"]
["KIAA0558","epileptic encephalopathy  early infantile"]
["STXBP1","epileptic encephalopathy  early infantile"]
["PNPO","epileptic encephalopathy  early myoclonic"]
["ARX","epileptic encephalopathy  early onset"]
["CDKL5","epileptic encephalopathy  early onset"]
["KCNQ2","epileptic encephalopathy  early onset"]
["MECP2","epileptic encephalopathy  early onset"]
["SCN1A","epileptic encephalopathy  early onset"]
["SCN2A","epileptic encephalopathy  early onset"]
["STXBP1","epileptic encephalopathy  early onset"]
["KCNQ2","epileptic encephalopathy  early-onset"]
["SCN8A","epileptic encephalopathy  infantile"]
["KCNQ2","epileptic encephalopathy  neonatal"]
["PNPO","epileptic encephalopathy  neonatal"]
["SLC25A22","epileptic encephalopathy  neonatal"]
["STXBP1","epileptic encephalopathy  neonatal"]
["C1orf84","epileptic encephalopathy and dysmorphic corpus callosum"]
["KIAA0467","epileptic encephalopathy and dysmorphic corpus callosum"]
["SCN1A","epileptic encephalopathy lennox-gastaut type"]
["CHD2","epileptic encephalopathy, childhood-onset"]
["CDKL5","epileptic seizures  early-onset"]
["COMP","epiphyseal dysplasia, multiple, 1, mild"]
["COMP","epiphyseal dysplasia, multiple, 1, severe"]
["DARS2","episodic ataxia  exercise-induced"]
["CACNA1A","episodic ataxia, type 2, and epilepsy"]
["SCN4A","episodic laryngospasm  severe neonatal"]
["SCN11A","episodic pain syndrome"]
["TRPA1","episodic pain syndrome, familial"]
["CACNA1A","episodic seizures  ataxia  and migraine with motor regression"]
["FGG","epistaxis  recurrent"]
["GDF2","epistaxis and telangiectasia"]
["FMR1","epithelial ovarian cancer  increased risk  association"]
["LIN28B","epithelial ovarian cancer  increased risk  association"]
["RNASEN","epithelial ovarian cancer  increased risk  association"]
["DCP1B","epithelial ovarian cancer  reduced risk  association"]
["EIF2C2","epithelial ovarian cancer  reduced risk  association"]
["LIN28","epithelial ovarian cancer  reduced risk  association"]
["LIN28B","epithelial ovarian cancer  reduced risk  association"]
["XRCC3","epithelial ovarian cancer  serous type  protection  association"]
["EPHX1","epoxide hydrolase deficiency  association with"]
["EPHX1","epoxide hydrolase polymorphism"]
["SLC29A2","equilibrative nucleoside transporter deficiency"]
["ERBB2","erbb2 polymorphism"]
["SCN9A","erythermalgia  primary"]
["AMPD3","erythrocyte amp deaminase deficiency"]
["CR1","erythrocyte sedimentation rate  association with"]
["EGLN1","erythrocytosis  familial  3"]
["SH2B3","erythrocytosis  idiopathic"]
["JAK2","erythrocytosis, jak2-related, somatic"]
["JAK2","erythrocytosis, somatic"]
["SH2B3","erythrocytosis, somatic"]
["LOR","erythrokeratoderma  progressive symmetric"]
["ALOX12","esential hypertension  association with"]
["S100A14","esophageal cancer  risk  association with"]
["ALDH2","esophageal cancer, alcohol-related, susceptibility to"]
["TGFBR2","esophageal cancer, somatic"]
["DCC","esophageal carcinoma, somatic"]
["CASP3","esophageal squamous cell carcinoma  increased risk"]
["SLC39A6","esophageal squamous cell carcinoma  survival  association with"]
["LZTS1","esophageal squamous cell carcinoma, somatic"]
["RNF6","esophageal squamous cell carcinoma, somatic"]
["WWOX","esophageal squamous cell carcinoma, somatic"]
["CLCNKB","essential hypertension  association with"]
["CYBA","essential hypertension  association with"]
["CYP4A11","essential hypertension  association with"]
["DRD1","essential hypertension  association with"]
["GNAS","essential hypertension  association with"]
["GRK4","essential hypertension  association with"]
["KLK1","essential hypertension  association with"]
["KYNU","essential hypertension  association with"]
["NEDD4L","essential hypertension  association with"]
["NPR1","essential hypertension  association with"]
["WNK4","essential hypertension  association with"]
["BDKRB2","essential hypertension  increased risk  association with in asians"]
["GNB3","essential hypertension  protection in low risk individials"]
["BLVRA","essential hypertension  reduced risk  association with"]
["C10orf59","essential hypertension in han chinese  association with"]
["DRD3","essential tremor, susceptibility to"]
["ESR1","estrogen receptor mutant, temperature-sensitive"]
["ACADS","ethylmalonic aciduria  association with"]
["HCRTR2","excessive daytime sleepiness"]
["KCNJ11","exercise stress response, impaired, association with"]
["DMD","exertional myalgia  muscle stiffness & myoglobinuria"]
["LOXL1","exfoliation glaucoma  association with"]
["LOXL1","exfoliation syndrome, susceptibility to"]
["RNASE3","expression of allergic symptoms  association with"]
["FGF10","extreme myopia  increased risk"]
["PAX6","extreme myopia  increased risk"]
["LRP5","exudative vitreoretinopathy 4, autosomal dominant"]
["LRP5","exudative vitreoretinopathy 4, autosomal recessive"]
["LRP5","exudative vitreoretinopathy 4, digenic"]
["FZD4","exudative vitreoretinopathy, digenic"]
["NDP","exudative vitreoretinopathy, x-linked"]
["FOXE3","eye developmental anomalies  autosomal dominant"]
["FOXE3","eye developmental anomalies  autosomal recessive"]
["NPC1L1","ezetimibe response"]
["GLA","fabry disease  atypical variant"]
["GLA","fabry disease  renal variant"]
["GLA","fabry disease, cardiac variant"]
["MASP1","facial  umbilical  coccygeal & auditory anomalies"]
["NALCN","facial dysmorphism  hypotonia  speech impairment  constipation and intellectual disability"]
["POLE","facial dysmorphism  immunodeficiency  livedo & short stature"]
["SMCHD1","facioscapulohumeral muscular dystrophy  modifier of severity"]
["CFB","factor b deficiency"]
["CFB","factor b fast/slow polymorphism"]
["F9","factor ix polymorphism"]
["F9","factor ix, dna polymorphism"]
["LMAN1","factor v and factor viii deficiency  combined"]
["MCFD2","factor v and factor viii deficiency  combined"]
["MCFD2","factor v and factor viii, combined deficiency of, 2"]
["F5","factor v hong kong"]
["F7","factor vii deficiency  association with"]
["HABP2","factor vii marburg i variant thrombophilia"]
["F8","factor viii"]
["F10","factor x deficiency  riyadh type"]
["F12","factor xii"]
["F12","factor xii polymorphism"]
["F13A1","factor xiii, a subunit, deficiency of"]
["F13B","factor xiii, b subunit, deficiency of"]
["PTH1R","failure of tooth eruption, primary"]
["PMM2","failure to thrive  hearing loss  hepatomegaly & pericardial effusion"]
["EARS2","failure to thrive  lactic acidosis  mitochondrial myopathy & hepatopathy"]
["MC1R","fair hair  association with"]
["ACTA2","familial aortopathy"]
["COL3A1","familial aortopathy"]
["MYH11","familial aortopathy"]
["TMEM237","familial aplasia of the vermis"]
["BRCA2","familial cancer of breast"]
["RAD50","familial cancer of breast"]
["RAD51","familial cancer of breast"]
["APC","familial colorectal cancer"]
["PTPN12","familial colorectal cancer"]
["RAD54B","familial colorectal cancer"]
["TP53","familial colorectal cancer"]
["USF1","familial combined hyperlipidaemia  association with"]
["EPOR","familial erythrocytosis, 1"]
["GABRG2","familial febrile seizures 8"]
["CACNA1A","familial hemiplegic migraine type 1"]
["ATP1A2","familial hemiplegic migraine type 2"]
["SCN1A","familial hemiplegic migraine type 3"]
["APOB","familial hypercholesterolemia"]
["EPHX2","familial hypercholesterolemia"]
["ABCC8","familial hyperinsulinism"]
["SCN4A","familial hyperkalemic periodic paralysis"]
["MYH7","familial hypertrophic cardiomyopathy 1"]
["MYL2","familial hypertrophic cardiomyopathy 10"]
["ACTC1","familial hypertrophic cardiomyopathy 11"]
["CSRP3","familial hypertrophic cardiomyopathy 12"]
["TNNC1","familial hypertrophic cardiomyopathy 13"]
["MYH6","familial hypertrophic cardiomyopathy 14"]
["VCL","familial hypertrophic cardiomyopathy 15"]
["MYOZ2","familial hypertrophic cardiomyopathy 16"]
["JPH2","familial hypertrophic cardiomyopathy 17"]
["PLN","familial hypertrophic cardiomyopathy 18"]
["CALR3","familial hypertrophic cardiomyopathy 19"]
["TNNT2","familial hypertrophic cardiomyopathy 2"]
["NEXN","familial hypertrophic cardiomyopathy 20"]
["TPM1","familial hypertrophic cardiomyopathy 3"]
["MYBPC3","familial hypertrophic cardiomyopathy 4"]
["PRKAG2","familial hypertrophic cardiomyopathy 6"]
["TNNI3","familial hypertrophic cardiomyopathy 7"]
["MYL3","familial hypertrophic cardiomyopathy 8"]
["TTN","familial hypertrophic cardiomyopathy 9"]
["MEFV","familial mediterranean fever, autosomal dominant"]
["RET","familial medullary thyroid carcinoma"]
["TP53","familial non-hodgkin lymphoma"]
["RUNX1","familial platelet disorder with associated myeloid malignancy"]
["UROD","familial porphyria cutanea tarda"]
["SLC5A2","familial renal glucosuria"]
["TNNI3","familial restrictive cardiomyopathy 1"]
["TNNT2","familial restrictive cardiomyopathy 3"]
["APOA5","familial type 5 hyperlipoproteinemia"]
["APOA1","familial visceral amyloidosis, ostertag type"]
["FGA","familial visceral amyloidosis, ostertag type"]
["LYZ","familial visceral amyloidosis, ostertag type"]
["PHEX","familial x-linked hypophosphatemic vitamin d refractory rickets"]
["PALB2","fanconi anaemia  n type"]
["FANCA","fanconi anemia, complementation group a"]
["FANCC","fanconi anemia, complementation group c"]
["FANCD2","fanconi anemia, complementation group d2"]
["FANCE","fanconi anemia, complementation group e"]
["FANCF","fanconi anemia, complementation group f"]
["FANCG","fanconi anemia, complementation group g"]
["FANCM","fanconi anemia, complementation group m"]
["ERCC4","fanconi anemia, complementation group q"]
["NP","faster cognitive decline in alzheimer disease  association with"]
["CD300LG","fasting hdl cholesterol  association with"]
["COBLL1","fasting insulin levels  association with"]
["G6PC2","fasting plasma glucose level  association with"]
["GCKR","fasting plasma glucose level quantitative trait locus 5"]
["KANK1","fasting proinsulin concentration  association with"]
["POLG","fatigue  muscle complaints & dysarthria"]
["FABP2","fatty acid-binding protein, intestinal, polymorphism of"]
["FCN3","fcn3 deficiency"]
["SCN1A","febrile seizures  association with"]
["CPA6","febrile seizures, familial, 11"]
["SCN1A","febrile seizures, familial, 3a"]
["SCN9A","febrile seizures, familial, 3b"]
["GPR98","febrile seizures, familial, 4"]
["TNFSF14","female vascular dementia  association with"]
["TRPS1","femoral neck width  association with"]
["RUNX2","femoral neck-bone mineral density  association with"]
["HBG1","fetal hemoglobin quantitative trait locus 1"]
["HBG2","fetal hemoglobin quantitative trait locus 1"]
["LMNA","fibre type disproportion  congenital"]
["RYR1","fibre type disproportion  congenital"]
["INSR","fibre-type disproportion myopathy  congenital"]
["TPM3","fibre-type disproportion myopathy  congenital"]
["FGA","fibrinogen aarhus 1"]
["FGG","fibrinogen asahi"]
["FGG","fibrinogen baltimore 1"]
["FGB","fibrinogen baltimore 2"]
["FGG","fibrinogen baltimore 3"]
["FGG","fibrinogen baltimore 4"]
["FGG","fibrinogen bergamo 2"]
["FGA","fibrinogen canterbury"]
["FGA","fibrinogen caracas-2"]
["FGB","fibrinogen christchurch 2"]
["FGA","fibrinogen dusart"]
["FGG","fibrinogen giessen 4"]
["FGG","fibrinogen hillsborough"]
["FGB","fibrinogen ise"]
["FGA","fibrinogen keokuk"]
["FGA","fibrinogen kyoto 2"]
["FGG","fibrinogen kyoto 3"]
["FGA","fibrinogen lille 1"]
["FGB","fibrinogen longmont"]
["FGA","fibrinogen marburg"]
["FGG","fibrinogen matsumoto 1"]
["FGG","fibrinogen milano 1"]
["FGA","fibrinogen milano xii, digenic"]
["FGG","fibrinogen milano xii, digenic"]
["FGG","fibrinogen nagoya 1"]
["FGB","fibrinogen naples"]
["FGB","fibrinogen nijmegen"]
["FGG","fibrinogen osaka 5"]
["FGB","fibrinogen pontoise 2"]
["FGA","fibrinogen rouen 1"]
["SPINK1","fibrocalculous pancreatic diabetes, susceptibility to"]
["ANTXR2","fibromatosis  hyaline & hyalinosis  systemic"]
["DDX5","fibrosis risk  association with"]
["IL18","fistulas in card15 mutation negative individuals  association"]
["FLNB","flnb-related disorders"]
["DPYD","fluorouracil response"]
["FMO3","fmo3 activity, decreased"]
["RET","fmtc and unclassified"]
["FBN1","fnb1 polymorphism"]
["TSC1","focal cortical dysplasia of taylor, type iib"]
["TOR1A","focal dystonia  late onset"]
["TBC1D24","focal epilepsy  dysarthria & intellectual disability"]
["CAPN12","focal segmental glomerulosclerosis"]
["LAMA5","focal segmental glomerulosclerosis"]
["NPHS2","focal segmental glomerulosclerosis  association with"]
["WIT1","focal segmental glomerulosclerosis  association with"]
["MYO1E","focal segmental glomerulosclerosis  childhood familial"]
["MMP14","focal segmental glomerulosclerosis  reduced risk  association with"]
["ACTN4","focal segmental glomerulosclerosis 1"]
["CD2AP","focal segmental glomerulosclerosis 3"]
["APOL1","focal segmental glomerulosclerosis 4, susceptibility to"]
["NXF5","focal segmental glomerulosclerosis with progressive heart block"]
["STXBP1","focal seizures  neonatal onset"]
["LRP8","foetal growth restriction  lower risk  association"]
["FOLR1","folate receptor deficiency"]
["AMH","follicle number  association with"]
["C6orf15","follicular lymphoma  association with"]
["TPR","follicular thyroid cancer"]
["PAX6","foveal hypoplasia and presenile cataract syndrome"]
["PAX6","foveal hypoplasia with anterior segment anomalies"]
["PAX6","foveal hypoplasia, isolated"]
["PRPH2","foveamacular dystrophy  adult onset"]
["CYP27B1","fracture  increased risk  association with"]
["ITGB3","fracture, hip, susceptibility to"]
["LRP6","fragility fractures  increased risk  association with"]
["SH3PXD2B","frank ter haar syndrome"]
["ALX3","frontonasal dysplasia"]
["ALX4","frontonasal dysplasia 2"]
["GRN","frontotemporal dementia  association with"]
["MAPT","frontotemporal dementia  association with"]
["FUS","frontotemporal dementia  behavioural variant"]
["TMEM106B","frontotemporal dementia  in grn mutation carriers  association with"]
["TARDBP","frontotemporal dementia  supranuclear gaze palsy & chorea"]
["MAPT","frontotemporal dementia  with parkinsonism"]
["TARDBP","frontotemporal dementia with tdp43 inclusions, tardbp-related"]
["GRN","frontotemporal dementia, ubiquitin-positive"]
["TREM2","frontotemporal lobar degeneration  behavioural variant"]
["GRN","frontotemporal lobar degeneration with ubiquitin-positive inclusions, susceptibility to"]
["FBP1","fructose-1 6-bisphosphatase deficiency"]
["KHK","fructosuria, essential"]
["FUCA1","fu1/fu2 polymorphism"]
["AGBL1","fuchs corneal dystrophy  late-onset"]
["LOXHD1","fuchs corneal dystrophy  late-onset"]
["FAH","fumarylacetoacetase pseudodeficiency"]
["TRPV1","functional dyspepsia  association with"]
["RDH5","fundus albipunctatus, autosomal recessive"]
["TIMP3","fundus dystrophy  sorsby"]
["ABCA4","fundus flavimaculatus  late onset"]
["CARD9","fungal infections  susceptibility to"]
["FBN1","furlong syndrome"]
["TRAF3IP1","furrow contractions in the iris  association with"]
["G6PD","g6pd a-"]
["G6PD","g6pd a+"]
["G6PD","g6pd alhambra"]
["G6PD","g6pd anant"]
["G6PD","g6pd andalus"]
["G6PD","g6pd asahi"]
["G6PD","g6pd aures"]
["G6PD","g6pd aveiro"]
["G6PD","g6pd betica"]
["G6PD","g6pd beverly hills"]
["G6PD","g6pd cagliari"]
["G6PD","g6pd castilla"]
["G6PD","g6pd chatham"]
["G6PD","g6pd coimbra"]
["G6PD","g6pd dhon"]
["G6PD","g6pd distrito federal"]
["G6PD","g6pd gaohe"]
["G6PD","g6pd gastonia"]
["G6PD","g6pd guadalajara"]
["G6PD","g6pd harilaou"]
["G6PD","g6pd ierapetra"]
["G6PD","g6pd ilesha"]
["G6PD","g6pd iowa"]
["G6PD","g6pd iowa city"]
["G6PD","g6pd jammu"]
["G6PD","g6pd japan"]
["G6PD","g6pd kaiping"]
["G6PD","g6pd kalyan"]
["G6PD","g6pd kerala"]
["G6PD","g6pd kerala-kalyan"]
["G6PD","g6pd loma linda"]
["G6PD","g6pd mahidol"]
["G6PD","g6pd mahidol-like"]
["G6PD","g6pd malaga"]
["G6PD","g6pd marion"]
["G6PD","g6pd matera"]
["G6PD","g6pd mediterranean"]
["G6PD","g6pd metaponto"]
["G6PD","g6pd mexico city"]
["G6PD","g6pd minnesota"]
["G6PD","g6pd modena"]
["G6PD","g6pd montalbano"]
["G6PD","g6pd namoru"]
["G6PD","g6pd nankang"]
["G6PD","g6pd neapolis"]
["G6PD","g6pd nilgiri"]
["G6PD","g6pd orissa"]
["G6PD","g6pd pawnee"]
["G6PD","g6pd petrich-like"]
["G6PD","g6pd puerto limon"]
["G6PD","g6pd rehovot"]
["G6PD","g6pd riverside"]
["G6PD","g6pd santamaria"]
["G6PD","g6pd santiago"]
["G6PD","g6pd santiago de cuba"]
["G6PD","g6pd sapporo-like"]
["G6PD","g6pd sassari"]
["G6PD","g6pd seattle-like"]
["G6PD","g6pd serres"]
["G6PD","g6pd split"]
["G6PD","g6pd springfield"]
["G6PD","g6pd sunderland"]
["G6PD","g6pd taiwan-hakka 2"]
["G6PD","g6pd tepic"]
["G6PD","g6pd tomah"]
["G6PD","g6pd viangchan"]
["G6PD","g6pd walter reed"]
["SCNN1G","gain of function"]
["GALT","galactosaemia  association"]
["GALT","galactosaemia  duarte variant"]
["GALE","galactose epimerase deficiency, severe"]
["CTSA","galactosialidosis, early infantile"]
["CTSA","galactosialidosis, late infantile"]
["KRAS","gallbladder carcinoma  increased risk  assoc with"]
["ABCG8","gallbladder disease 4"]
["GALT","galt polymorphism"]
["GCLC","gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to"]
["HINT1","gamstorp-wohlfart syndrome"]
["GLB1","gangliosidosis gm1  infantile"]
["GLB1","gangliosidosis gm1  juvenile"]
["GLB1","gangliosidosis gm1  modulating effect  association with"]
["GLB1","gangliosidosis gm1 type 3"]
["TLR4","gastric adenocarcinoma  association with"]
["ADH1C","gastric adenocarcinoma  increased risk"]
["CD274","gastric adenocarcinoma  increased risk"]
["PLCE1","gastric adenocarcinoma  increased risk"]
["PLCE1","gastric adenocarcinoma and oesophageal scc  association with"]
["DNMT3A","gastric cancer  association with"]
["MUC1","gastric cancer  association with"]
["NOD2","gastric cancer  association with"]
["NUDT1","gastric cancer  association with"]
["OGG1","gastric cancer  association with"]
["VCAN","gastric cancer  association with"]
["IL23R","gastric cancer  decreased risk  association with"]
["CDH1","gastric cancer  diffuse"]
["CTNNA1","gastric cancer  diffuse"]
["PSCA","gastric cancer  diffuse-type  association with"]
["IL1B","gastric cancer  increased risk  association with"]
["TFF1","gastric cancer  increased risk  association with"]
["AML2","gastric cancer  intestinal type  association with"]
["TGFBR2","gastric cancer  reduced risk  association with"]
["CDH1","gastric cancer  susceptibility to"]
["APC","gastric cancer, somatic"]
["CASP10","gastric cancer, somatic"]
["ERBB2","gastric cancer, somatic"]
["FGFR2","gastric cancer, somatic"]
["IRF1","gastric cancer, somatic"]
["KLF6","gastric cancer, somatic"]
["KRAS","gastric cancer, somatic"]
["MUTYH","gastric cancer, somatic"]
["PIK3CA","gastric cancer, somatic"]
["IL8","gastric cancer/ulcer  increased risk  association with"]
["TLR4","gastritis  association with"]
["VEGFA","gastroduodenal ulcer  increased risk  association with"]
["NBN","gastrointestinal cancer  association with"]
["BUB1B","gastrointestinal cancer  susceptibility to"]
["BMPR1A","gastrointestinal polyposis"]
["KIT","gastrointestinal stromal tumor, familial"]
["PDGFRA","gastrointestinal stromal tumor, familial"]
["KIT","gastrointestinal stromal tumor, somatic"]
["PDGFRA","gastrointestinal stromal tumor, somatic"]
["SDHB","gastrointestinal stromal tumors"]
["KIT","gastrointestinal tumour  stromal"]
["SDHA","gastrointestinal tumour  stromal"]
["SDHB","gastrointestinal tumour  stromal"]
["SDHC","gastrointestinal tumour  stromal"]
["SDHD","gastrointestinal tumour  stromal"]
["PSAP","gaucher disease  atypical"]
["GBA","gaucher disease type 3c"]
["GBA","gaucher's disease, type 1"]
["ROBO3","gaze palsy  horizontal  with progressive scoliosis"]
["GC","gc1/gc2 polymorphism"]
["GCKR","gckr variant"]
["ABCC6","generalized arterial calcification of infancy 2"]
["COL7A1","generalized dominant dystrophic epidermolysis bullosa"]
["FOXG1","generalized dystonia  athetosis and parkinsonism"]
["GABRG2","generalized epilepsy with febrile seizures plus 3"]
["GABRD","generalized epilepsy with febrile seizures plus type 5"]
["SCN1A","generalized epilepsy with febrile seizures plus, type 1"]
["SCN9A","generalized epilepsy with febrile seizures plus, type 7"]
["PRNP","genetic prion diseases"]
["TBX21","genital hsv-2 infection  association with"]
["NTHL1","genomic instability  association with"]
["PRNP","gerstmann-straeussler syndrome  association with"]
["TBXAS1","ghosal hematodiaphyseal syndrome"]
["UGT1A3","gilbert's syndrome"]
["PAX6","gillespie syndrome  atypical"]
["CYP1B1","glaucoma  congenital"]
["WDR36","glaucoma  high tension"]
["MYOC","glaucoma  narrow angle"]
["CYP1B1","glaucoma  newborn"]
["OLFM2","glaucoma  open angle"]
["OPTN","glaucoma  open angle  association with"]
["CYP1B1","glaucoma  open angle  juvenile onset"]
["MYOC","glaucoma  open angle  juvenile onset"]
["CYP1B1","glaucoma  primary congenital"]
["LTBP2","glaucoma  primary congenital"]
["MYOC","glaucoma  primary congenital"]
["SH3PXD2B","glaucoma  primary congenital"]
["CYP1B1","glaucoma  primary congenital  association with"]
["ASB10","glaucoma  primary open angle"]
["COL8A2","glaucoma  primary open angle"]
["CYP1B1","glaucoma  primary open angle"]
["LTBP2","glaucoma  primary open angle"]
["MYOC","glaucoma  primary open angle"]
["NTF5","glaucoma  primary open angle"]
["OPTC","glaucoma  primary open angle"]
["RPGRIP1","glaucoma  primary open angle"]
["SH3PXD2B","glaucoma  primary open angle"]
["WDR36","glaucoma  primary open angle"]
["OPTC","glaucoma  primary open angle  association with"]
["WDR36","glaucoma  primary open angle  association with"]
["LTBP2","glaucoma  primary open angle/pseudoexfoliation syndrome"]
["CYP1B1","glaucoma 1  open angle"]
["MYOC","glaucoma 1  open angle"]
["OPTN","glaucoma 1  open angle"]
["MYOC","glaucoma 1  open angle  association with"]
["OPTN","glaucoma 1  open angle  association with"]
["MYOC","glaucoma 1  open angle  severity  association with"]
["MYOC","glaucoma 1, open angle, a, autosomal recessive"]
["MYOC","glaucoma 1, open angle, a, digenic"]
["ASB10","glaucoma 1, open angle, f"]
["NTF4","glaucoma 1, open angle, o"]
["MYOC","glaucoma 3, primary congenital, a, digenic"]
["CYP1B1","glaucoma, early-onset, digenic"]
["OPTN","glaucoma, normal tension, susceptibility to"]
["CYP1B1","glaucoma, primary congenital, a"]
["CYP1B1","glaucoma, primary open angle, juvenile-onset"]
["EGFR","glioblastoma  risk  association with"]
["EME1","glioblastoma multiforme  association with ?"]
["ERBB2","glioblastoma, somatic"]
["CD3EAP","glioma  adult-onset  association with"]
["LIG4","glioma  increased risk  association with"]
["PPARG","glioma susceptibility 1"]
["TP53","glioma susceptibility 1"]
["PTEN","glioma susceptibility 2"]
["BRCA2","glioma susceptibility 3"]
["CYP2C9","glipizide poor metabolizer"]
["CFH","glomerulonephritis  crescentic and necrotizing"]
["COL4A5","glomerulopathy  x-linked"]
["FN1","glomerulopathy with fibronectin deposits 2"]
["ACTN4","glomerulosclerosis  focal and segmental"]
["SYNPO","glomerulosclerosis  focal and segmental"]
["CD2AP","glomerulosclerosis  focal segmental"]
["NPHP4","glomerulosclerosis  focal segmental"]
["PLCE1","glomerulosclerosis  focal segmental"]
["NR3C1","glucocorticoid receptor polymorphism"]
["NR3C1","glucocorticoid resistance, cellular"]
["NR3C1","glucocorticoid resistance, familial"]
["NR3C1","glucocorticoid resistance, generalized"]
["TAS2R9","glucose homeostasis  association with"]
["SLC2A1","glucose transporter type 1 deficiency syndrome"]
["PRKAG2","glucose/lipid metabolism   association with"]
["G6PC","glucose-6-phosphate transport defect"]
["SLC37A4","glucose-6-phosphate transport defect"]
["SLC2A1","glut1 deficiency syndrome 1, autosomal recessive"]
["GPT","glutamic pyruvate transaminase polymorphism"]
["ETFA","glutaric acidemia iia"]
["ETFB","glutaric acidemia iib"]
["ETFDH","glutaric acidemia iic"]
["ETFDH","glutaric acidemia iic, late-onset"]
["C7orf10","glutaryl-coa oxidase deficiency"]
["GPX1","glutathione peroxidase polymorphism"]
["GSS","glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to"]
["GSS","gluthathione synthetase deficiency"]
["C11orf65","glycemic response to metformin in t2d patients  assoc with"]
["GK","glycerol kinase deficiency, isolated"]
["PRKAG3","glycogen content in skeletal muscle, increased"]
["SLC17A3","glycogen storage disease  modifier of"]
["SLC37A4","glycogen storage disease 1 non-a"]
["SLC37A4","glycogen storage disease 1b"]
["SLC37A4","glycogen storage disease 1c"]
["SLC37A4","glycogen storage disease 1d"]
["GAA","glycogen storage disease 2  infantile-onset"]
["GAA","glycogen storage disease 2  juvenile-onset"]
["GAA","glycogen storage disease 2  late-onset"]
["GBE1","glycogen storage disease 4  neonatal"]
["GBE1","glycogen storage disease 4  non-lethal neuromuscular"]
["GAA","glycogen storage disease ii, adult form"]
["GAA","glycogen storage disease ii, infantile form"]
["AGL","glycogen storage disease iiia"]
["GBE1","glycogen storage disease iv, childhood neuromuscular"]
["GBE1","glycogen storage disease iv, classic hepatic"]
["GBE1","glycogen storage disease iv, combined hepatic and myopathic"]
["GBE1","glycogen storage disease iv, congenital neuromuscular"]
["GBE1","glycogen storage disease iv, fatal perinatal neuromuscular"]
["GBE1","glycogen storage disease iv, nonprogressive hepatic"]
["PHKA1","glycogen storage disease ixd"]
["ENO3","glycogen storage disease type 13"]
["G6PC","glycogen storage disease type 1a"]
["AGL","glycogen storage disease type iii"]
["PHKA2","glycogen storage disease type ixa1"]
["AGL","glycogen storage disease, type iiib"]
["AGL","glycogen storage disease, type iiic"]
["GYPC","glycophorin d, duch variant"]
["GYPC","glycophorin d, webb variant"]
["GLB1","gm1-gangliosidosis, type i, with cardiac involvement"]
["HEXA","gm2-gangliosidosis, adult"]
["HEXA","gm2-gangliosidosis, adult-onset"]
["HEXA","gm2-gangliosidosis, b1 variant"]
["HEXA","gm2-gangliosidosis, chronic"]
["HEXA","gm2-gangliosidosis, juvenile"]
["HEXA","gm2-gangliosidosis, late onset"]
["HEXA","gm2-gangliosidosis, subacute"]
["GMPR","gmp reductase polymorphism"]
["CLIC6","goitre"]
["GRPEL1","goitre"]
["RGS12","goitre"]
["TG","goitre  adenomatous"]
["TG","goitre  congenital"]
["TG","goitre  dyshormonogenetic"]
["DICER1","goitre  multinodular"]
["KEAP1","goitre  multinodular"]
["TG","goitre  simple"]
["NR2E3","goldmann-favre syndrome"]
["DHH","gonadal dysgenesis  complete"]
["DHH","gonadal dysgenesis  partial"]
["ABCG2","gout  association with"]
["ALDH16A1","gout  association with"]
["GCKR","gout  association with"]
["SLC2A9","gout  association with"]
["SLC22A12","gout  increased risk  association with"]
["SLC22A12","gout  primary"]
["CD109","gov platelet antigen variation"]
["HMHA1","graft versus host disease  association with"]
["IL17A","graft-versus-host disease  increased risk  association with"]
["IRAK4","gram-positive infection  increased risk"]
["NOD2","granulomatous arthritis  paediatric"]
["CYBA","granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"]
["CYBB","granulomatous disease, chronic, x-linked, variant"]
["GNAI2","granulosa cell tumor, somatic"]
["HLA-DRB1","graves disease  association with"]
["IL3","graves disease  association with"]
["CD40","graves' disease  association with"]
["FCRL3","graves' disease  association with"]
["ICAM1","graves disease  earlier age of onset  association"]
["GPR174","graves' disease  increased risk"]
["FOXP3","graves' disease  remission  association with"]
["CTLA4","graves disease  susceptibility to  association"]
["SCGB3A2","graves disease  susceptibility to  association"]
["PEAR1","greater platelet aggregation  association with"]
["HBG1","greek hpfh"]
["GLI3","greig cephalopolysyndactyly syndrome, severe"]
["GH2","growth hormone deficiency"]
["GHRHR","growth hormone deficiency  isolated"]
["GHSR","growth hormone deficiency  isolated"]
["STAT5B","growth hormone insensitivity with immunodeficiency"]
["IGF1R","growth retardation  intrauterine & postnatal"]
["SECISBP2","growth retardation  low serum selenium & thyroid abnormalities"]
["CD1A","guillain-barre syndrome  reduced risk  association with"]
["CD1E","guillain-barre syndrome  reduced risk  association with"]
["OAT","gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia"]
["FUT1","h antigen  bombay phenotype"]
["FUT1","h antigen  para-bombay phenotype"]
["FUT1","h antigen  reunion phenotype"]
["CD55","h1n1 influenza a virus infection  2009 pandemic  increased severity  association with"]
["ANTXR1","haemangioma  infantile"]
["KDR","haemangioma  infantile  association with"]
["SLC11A2","haemochromatosis"]
["HFE","haemochromatosis  association with"]
["HAMP","haemochromatosis  hfe related"]
["HAMP","haemochromatosis  juvenile"]
["CYBRD1","haemochromatosis  phenotype modifier  association with"]
["SLC40A1","haemochromatosis  type 4"]
["TAF3","haemoglobin concentrations  association with"]
["ARHGEF17","haemoglobin levels  association with"]
["CD46","haemolytic uraemic syndrome  association with"]
["CFH","haemolytic uraemic syndrome  association with"]
["C3","haemolytic uraemic syndrome  atypical"]
["CD46","haemolytic uraemic syndrome  atypical"]
["CFB","haemolytic uraemic syndrome  atypical"]
["CFH","haemolytic uraemic syndrome  atypical"]
["CFHR1","haemolytic uraemic syndrome  atypical"]
["CFHR3","haemolytic uraemic syndrome  atypical"]
["CFHR5","haemolytic uraemic syndrome  atypical"]
["CFI","haemolytic uraemic syndrome  atypical"]
["DGKE","haemolytic uraemic syndrome  atypical"]
["F12","haemolytic uraemic syndrome  atypical"]
["MMACHC","haemolytic uraemic syndrome  atypical"]
["THBD","haemolytic uraemic syndrome  atypical"]
["C4BPA","haemolytic uraemic syndrome  atypical  association with"]
["C7","haemolytic uraemic syndrome  reduced susceptibility"]
["CFHR5","haemolytic uraemic syndrome  susceptibility to"]
["UNC13D","haemophagocytic lymphohistiocytosis  atypical familial"]
["PRF1","haemophagocytic lymphohistiocytosis  familial"]
["STX11","haemophagocytic lymphohistiocytosis  familial"]
["UNC13D","haemophagocytic lymphohistiocytosis  familial"]
["F9","haemophilia b  severe"]
["CDH5","haemorrhagic fever with renal syndrome  reduced severity  association with"]
["ACVRL1","haemorrhagic telangiectasia associated with pulmonary arterial hypertension"]
["ACVRL1","haemorrhagic telangiectasia with brain arteriovenous malformations"]
["TPCN2","hair colour  association with"]
["EDAR","hair morphology 1, hair thickness"]
["HTR2C","hallucinations  in alzheimer disease  association"]
["HP","haptoglobin deficiency  association with"]
["HP","haptoglobin, alpha-1, fast-slow polymorphism"]
["SLC6A19","hartnup disease"]
["IFNG","hashimoto disease  severity  association with"]
["CTLA4","hashimoto thyroiditis, susceptibility to"]
["HBB","hb aubenas"]
["HBB","hb camperdown"]
["HBB","hb gambara"]
["HBB","hb niigata"]
["HBB","hb ss disease"]
["HBG1","hbg1 polymorphism"]
["MASP2","hcv infection  susceptibility to"]
["CCL2","hcv-related liver disease  severity  association"]
["APOB","hdl cholesterol  association with"]
["LRP2","hdl cholesterol  association with"]
["PTGDS","hdl cholesterol  association with"]
["VNN1","hdl cholesterol concentration  association with"]
["LIPG","hdl cholesterol levels  association with"]
["SCARB1","hdl cholesterol levels  in women  association with"]
["NR1H3","hdl-c levels  association with"]
["XRCC3","head and neck cancer  increased risk"]
["IGFBP7","head and neck cancer  reduced risk"]
["BCL2L2","head and neck cancer  second primary tumour  association"]
["IL1R1","head and neck cancer  second primary tumour  association"]
["NR1I2","head and neck cancer  second primary tumour  association"]
["SMC1B","head and neck cancer  second primary tumour  association"]
["SSTR2","head and neck cancer  second primary tumour  association"]
["GSTM3","head and neck cancer  second primary tumour  reduced risk  assoc"]
["SUFU","head and neck cancer  second primary tumour  reduced risk  association"]
["CABP2","hearing impairment  autosomal recessive"]
["ILDR1","hearing impairment  autosomal recessive"]
["GJB2","hearing impairment  bilateral sensorineural"]
["SLC26A4","hearing impairment  bilateral sensorineural"]
["GJB2","hearing impairment  nonsyndromic"]
["SLC26A4","hearing impairment  nonsyndromic"]
["GRXCR1","hearing impairment  nonsyndromic  autosomal recessive"]
["KARS","hearing impairment  nonsyndromic  autosomal recessive"]
["GJB2","hearing impairment  postlingual"]
["CEACAM16","hearing loss  autosomal dominant"]
["ESPN","hearing loss  autosomal dominant"]
["MYO6","hearing loss  autosomal dominant"]
["KCNJ10","hearing loss  digenic non-syndromic"]
["ACTG1","hearing loss  early-childhood"]
["DFNA5","hearing loss  early-childhood"]
["MYO7A","hearing loss  early-childhood"]
["POU4F3","hearing loss  early-childhood"]
["SLC26A5","hearing loss  early-childhood"]
["USH2A","hearing loss  early-childhood"]
["JAG1","hearing loss  heart defects and posterior embryotoxon"]
["C19orf46","hearing loss  high-frequency  progressive"]
["ACTG1","hearing loss  non-syndromic"]
["CDH23","hearing loss  non-syndromic"]
["COL9A3","hearing loss  non-syndromic"]
["DFNA5","hearing loss  non-syndromic"]
["DFNB59","hearing loss  non-syndromic"]
["ESPN","hearing loss  non-syndromic"]
["GJB2","hearing loss  non-syndromic"]
["GJB6","hearing loss  non-syndromic"]
["GJC3","hearing loss  non-syndromic"]
["GPSM2","hearing loss  non-syndromic"]
["HGF","hearing loss  non-syndromic"]
["ILDR1","hearing loss  non-syndromic"]
["LHFPL5","hearing loss  non-syndromic"]
["LRTOMT","hearing loss  non-syndromic"]
["MARVELD2","hearing loss  non-syndromic"]
["MYO15A","hearing loss  non-syndromic"]
["MYO3A","hearing loss  non-syndromic"]
["MYO7A","hearing loss  non-syndromic"]
["OTOA","hearing loss  non-syndromic"]
["OTOF","hearing loss  non-syndromic"]
["RDX","hearing loss  non-syndromic"]
["SLC26A4","hearing loss  non-syndromic"]
["TECTA","hearing loss  non-syndromic"]
["TMPRSS3","hearing loss  non-syndromic"]
["TNC","hearing loss  non-syndromic"]
["GJB2","hearing loss  non-syndromic  autosomal dominant"]
["KCNQ4","hearing loss  non-syndromic  autosomal dominant"]
["MYH14","hearing loss  non-syndromic  autosomal dominant"]
["MYO6","hearing loss  non-syndromic  autosomal dominant"]
["CLDN14","hearing loss  non-syndromic  autosomal recessive"]
["GJB2","hearing loss  non-syndromic  autosomal recessive"]
["ILDR1","hearing loss  non-syndromic  autosomal recessive"]
["LOXHD1","hearing loss  non-syndromic  autosomal recessive"]
["MYO15A","hearing loss  non-syndromic  autosomal recessive"]
["SERPINB6","hearing loss  non-syndromic  autosomal recessive"]
["TECTA","hearing loss  non-syndromic  autosomal recessive"]
["TMPRSS3","hearing loss  non-syndromic  autosomal recessive"]
["TRIOBP","hearing loss  non-syndromic  autosomal recessive"]
["TMPRSS3","hearing loss  non-syndromic  sensorineural"]
["COCH","hearing loss  non-syndromic progressive sensorineural  autosomal dominant"]
["MYO15A","hearing loss  non-syndromic sensorineural"]
["CCDC50","hearing loss  progressive"]
["P2RX2","hearing loss  progressive"]
["COCH","hearing loss  unilateral"]
["POU3F4","hearing loss  x-linked nonsyndromic"]
["GATA6","heart defects and diabetes  permanent neonatal"]
["DES","heart dilation  association with"]
["AGER","heart disease  reduced risk  association with"]
["CLCNKA","heart failure  increased risk"]
["ADRB2","heart failure  poor survival  association with"]
["ADRB1","heart failure  survival  association with"]
["CREB1","heart rate response to submaximal exercise  association with"]
["HBB","heinz body hemolytic anemia"]
["IL1R1","helicobacter pylori infection  association with"]
["NOD1","helicobacter pylori-induced duodenal ulcer and gastritis  association"]
["CCL22","helicobacter pylori-related gastric carcinoma  association with"]
["VHL","hemangioblastoma, sporadic cerebellar"]
["FLT4","hemangioma, capillary infantile, somatic"]
["KDR","hemangioma, capillary infantile, somatic"]
["ANTXR1","hemangioma, capillary infantile, susceptibility to"]
["KDR","hemangioma, capillary infantile, susceptibility to"]
["COL4A1","hemiplegia  infantile"]
["CACNA1A","hemiplegic migraine  cerebellar dysfunction & cognitive decline"]
["CACNA1A","hemiplegic migraine  coma  cerebellar atrophy"]
["CACNA1A","hemiplegic migraine  progressive cerebellar ataxia"]
["HFE2","hemochromatosis type 2a"]
["HAMP","hemochromatosis type 2b"]
["TFR2","hemochromatosis type 3"]
["SLC40A1","hemochromatosis type 4"]
["HFE","hemochromatosis, juvenile, digenic"]
["TFR2","hemochromatosis, type 1, modifier of"]
["HAMP","hemochromatosis, type 2a, modifier of"]
["HBD","hemoglobin a"]
["HBB","hemoglobin aalborg"]
["HBB","hemoglobin abraham lincoln"]
["HBA1","hemoglobin adana"]
["HBB","hemoglobin agenogi"]
["HBA1","hemoglobin aghia sophia"]
["HBA1","hemoglobin aichi"]
["HBA1","hemoglobin aida"]
["HBA1","hemoglobin albany-georgia"]
["HBA1","hemoglobin albany-suma"]
["HBB","hemoglobin alberta"]
["HBB","hemoglobin alesha"]
["HBA2","hemoglobin al-hammadi riyadh"]
["HBA2","hemoglobin anamosa"]
["HBA1","hemoglobin anantharaj"]
["HBB","hemoglobin andrew-minneapolis"]
["HBB","hemoglobin ankara"]
["HBB","hemoglobin antalya"]
["HBB","hemoglobin arlington park"]
["HBB","hemoglobin arta"]
["HBA1","hemoglobin arya"]
["HBA1","hemoglobin asabara"]
["HBA1","hemoglobin atago"]
["HBB","hemoglobin atlanta"]
["HBB","hemoglobin atlanta-coventry"]
["HBB","hemoglobin aubagne"]
["HBA1","hemoglobin auckland"]
["HBB","hemoglobin aurora"]
["HBB","hemoglobin austin"]
["HBB","hemoglobin avicenna"]
["HBA1","hemoglobin aztec"]
["HBB","hemoglobin bab-saadoun"]
["HBB","hemoglobin barbizon"]
["HBB","hemoglobin barcelona"]
["HBA1","hemoglobin bari"]
["HBB","hemoglobin baylor"]
["HBB","hemoglobin beckman"]
["HBA1","hemoglobin beijing"]
["HBA1","hemoglobin beilinson"]
["HBB","hemoglobin beirut"]
["HBB","hemoglobin belfast"]
["HBA1","hemoglobin belliard"]
["HBB","hemoglobin beograd"]
["HBB","hemoglobin beth israel"]
["HBB","hemoglobin bethesda"]
["HBA1","hemoglobin beziers"]
["HBB","hemoglobin bicetre"]
["HBB","hemoglobin birmingham"]
["HBA1","hemoglobin bois guillaume"]
["HBB","hemoglobin bologna-st. orsola"]
["HBB","hemoglobin boras"]
["HBB","hemoglobin bougardirey-mali"]
["HBA1","hemoglobin bourmedes"]
["HBA2","hemoglobin boyle heights"]
["HBB","hemoglobin brem-sur-mer"]
["HBB","hemoglobin brest"]
["HBB","hemoglobin brie comte robert"]
["HBB","hemoglobin brigham"]
["HBB","hemoglobin brisbane"]
["HBB","hemoglobin bristol"]
["HBB","hemoglobin british columbia"]
["HBB","hemoglobin brockton"]
["HBA1","hemoglobin broussais"]
["HBB","hemoglobin bruxelles"]
["HBB","hemoglobin bryn mawr"]
["HBB","hemoglobin buenos aires"]
["HBA1","hemoglobin buffalo"]
["HBA1","hemoglobin buginese-x"]
["HBB","hemoglobin bunbury"]
["HBB","hemoglobin burton-upon-trent"]
["HBB","hemoglobin bushey"]
["HBB","hemoglobin bushwick"]
["HBB","hemoglobin buzen"]
["HBB","hemoglobin c"]
["HBB","hemoglobin cagliari"]
["HBA2","hemoglobin campinas"]
["HBB","hemoglobin canterbury"]
["HBA1","hemoglobin capa"]
["HBB","hemoglobin cardarelli"]
["HBB","hemoglobin caribbean"]
["HBB","hemoglobin casablanca"]
["HBB","hemoglobin casper"]
["HBB","hemoglobin castilla"]
["HBA1","hemoglobin catonsville"]
["HBA1","hemoglobin chad"]
["HBA1","hemoglobin chapel hill"]
["HBA1","hemoglobin charolles"]
["HBB","hemoglobin chaya"]
["HBB","hemoglobin chemilly"]
["HBA1","hemoglobin chesapeake"]
["HBB","hemoglobin chesterfield"]
["HBB","hemoglobin cheverly"]
["HBA1","hemoglobin chiapas"]
["HBB","hemoglobin chiba"]
["HBA1","hemoglobin chicago"]
["HBB","hemoglobin chico"]
["HBB","hemoglobin chile"]
["HBB","hemoglobin chori"]
["HBB","hemoglobin city of hope"]
["HBB","hemoglobin cleveland"]
["HBA2","hemoglobin clinico-madrid"]
["HBB","hemoglobin cochin-port royal"]
["HBB","hemoglobin cocody"]
["HBB","hemoglobin colima"]
["HBB","hemoglobin collingwood"]
["HBB","hemoglobin complutense"]
["HBA2","hemoglobin constant spring"]
["HBA1","hemoglobin cordele"]
["HBB","hemoglobin costa rica"]
["HBB","hemoglobin coventry"]
["HBB","hemoglobin cowtown"]
["HBB","hemoglobin cranston"]
["HBB","hemoglobin crete"]
["HBB","hemoglobin creteil"]
["HBB","hemoglobin d"]
["HBA2","hemoglobin davenport"]
["HBB","hemoglobin deaconess"]
["HBB","hemoglobin deer lodge"]
["HBA1","hemoglobin delfzicht"]
["HBA1","hemoglobin denmark hill"]
["HBB","hemoglobin denver"]
["HBB","hemoglobin detroit"]
["HBB","hemoglobin dhofar"]
["HBB","hemoglobin dhonburi"]
["HBA1","hemoglobin die"]
["HBB","hemoglobin dieppe"]
["HBB","hemoglobin djelfa"]
["HBB","hemoglobin doha"]
["HBA1","hemoglobin douala"]
["HBB","hemoglobin drenthe"]
["HBA1","hemoglobin duan"]
["HBB","hemoglobin duino"]
["HBA1","hemoglobin dunn"]
["HBB","hemoglobin e"]
["HBB","hemoglobin egypt"]
["HBB","hemoglobin ernz"]
["HBA1","hemoglobin etobicoke"]
["HBB","hemoglobin extremadura"]
["HBA1","hemoglobin f"]
["HBG1","hemoglobin f"]
["HBG2","hemoglobin f"]
["HBB","hemoglobin fannin-lubbock"]
["HBA1","hemoglobin ferndown"]
["HBA1","hemoglobin fort de france"]
["HBA1","hemoglobin fort worth"]
["HBA1","hemoglobin fuchu-i"]
["HBA1","hemoglobin fuchu-ii"]
["HBA2","hemoglobin fukui"]
["HBB","hemoglobin fukuyama"]
["HBA1","hemoglobin g"]
["HBA2","hemoglobin g"]
["HBB","hemoglobin g"]
["HBB","hemoglobin gainesville-ga"]
["HBB","hemoglobin galicia"]
["HBA1","hemoglobin garden state"]
["HBB","hemoglobin gavello"]
["HBB","hemoglobin geelong"]
["HBB","hemoglobin geldrop st. anna"]
["HBB","hemoglobin geneva"]
["HBB","hemoglobin genova"]
["HBB","hemoglobin gifu"]
["HBA1","hemoglobin godavari"]
["HBB","hemoglobin grange-blanche"]
["HBB","hemoglobin graz"]
["HBB","hemoglobin great lakes"]
["HBB","hemoglobin grenoble"]
["HBA1","hemoglobin guizhou"]
["HBB","hemoglobin gun hill"]
["HBA1","hemoglobin h disease, nondeletional"]
["HBA2","hemoglobin h disease, nondeletional"]
["HBB","hemoglobin hacettepe"]
["HBB","hemoglobin hamadan"]
["HBB","hemoglobin hamilton"]
["HBB","hemoglobin hammersmith"]
["HBA1","hemoglobin handa"]
["HBB","hemoglobin harrow"]
["HBA2","hemoglobin hasharon"]
["HBA1","hemoglobin hekinan"]
["HBB","hemoglobin helsinki"]
["HBB","hemoglobin henri mondor"]
["HBB","hemoglobin higashitochigi"]
["HBB","hemoglobin hijiyama"]
["HBB","hemoglobin hikari"]
["HBB","hemoglobin himeji"]
["HBB","hemoglobin hinsdale"]
["HBB","hemoglobin hinwil"]
["HBB","hemoglobin hirose"]
["HBB","hemoglobin hiroshima"]
["HBA1","hemoglobin hobart"]
["HBB","hemoglobin hofu"]
["HBB","hemoglobin hokusetsu"]
["HBB","hemoglobin hope"]
["HBB","hemoglobin hopkins 1"]
["HBB","hemoglobin hoshida"]
["HBB","hemoglobin hotel-dieu"]
["HBB","hemoglobin howick"]
["HBB","hemoglobin ht"]
["HBB","hemoglobin hyogo"]
["HBA1","hemoglobin i"]
["HBA2","hemoglobin i"]
["HBB","hemoglobin i"]
["HBA2","hemoglobin icaria"]
["HBB","hemoglobin ilmenau"]
["HBB","hemoglobin iowa"]
["HBB","hemoglobin iraq-halabja"]
["HBB","hemoglobin isehara"]
["HBA1","hemoglobin j"]
["HBA2","hemoglobin j"]
["HBB","hemoglobin j"]
["HBA1","hemoglobin jackson"]
["HBB","hemoglobin jamaica plain"]
["HBB","hemoglobin jenkins"]
["HBB","hemoglobin jinan"]
["HBB","hemoglobin johnstown"]
["HBB","hemoglobin k"]
["HBB","hemoglobin kansas"]
["HBB","hemoglobin karatsu"]
["HBB","hemoglobin karlskoga"]
["HBA1","hemoglobin kawachi"]
["HBB","hemoglobin kempsey"]
["HBB","hemoglobin kenitra"]
["HBB","hemoglobin kenwood"]
["HBB","hemoglobin khartoum"]
["HBB","hemoglobin knossos"]
["HBB","hemoglobin kobe"]
["HBB","hemoglobin kochi"]
["HBB","hemoglobin kodaira"]
["HBB","hemoglobin kodaira ii"]
["HBA1","hemoglobin koelliker"]
["HBA1","hemoglobin kokura"]
["HBB","hemoglobin koln"]
["HBB","hemoglobin korea"]
["HBB","hemoglobin korle-bu"]
["HBA1","hemoglobin kurashiki"]
["HBA2","hemoglobin kurdistan"]
["HBA2","hemoglobin kurosaki"]
["HBA1","hemoglobin l"]
["HBA2","hemoglobin l"]
["HBB","hemoglobin la coruna"]
["HBB","hemoglobin la desirade"]
["HBB","hemoglobin la roche-sur-yon"]
["HBB","hemoglobin las palmas"]
["HBA1","hemoglobin legnano"]
["HBB","hemoglobin leiden"]
["HBB","hemoglobin leslie"]
["HBA1","hemoglobin lille"]
["HBB","hemoglobin linkoping"]
["HBA1","hemoglobin lisbon"]
["HBB","hemoglobin lucknow"]
["HBB","hemoglobin lufkin"]
["HBA1","hemoglobin luton"]
["HBB","hemoglobin lyon"]
["HBA1","hemoglobin m"]
["HBB","hemoglobin m"]
["HBB","hemoglobin machida"]
["HBA1","hemoglobin mahidol"]
["HBB","hemoglobin malay"]
["HBA1","hemoglobin malhacen"]
["HBA2","hemoglobin manawatu"]
["HBA1","hemoglobin mantes-la-jolie"]
["HBB","hemoglobin manukau"]
["HBB","hemoglobin maputo"]
["HBB","hemoglobin marineo"]
["HBB","hemoglobin masuda"]
["HBA1","hemoglobin matsue-oki"]
["HBB","hemoglobin mckees rocks"]
["HBB","hemoglobin medicine lake"]
["HBB","hemoglobin meilahti"]
["HBA1","hemoglobin memphis"]
["HBB","hemoglobin mequon"]
["HBA1","hemoglobin michigan-i"]
["HBA1","hemoglobin michigan-ii"]
["HBA1","hemoglobin milledgeville"]
["HBB","hemoglobin minneapolis-laos"]
["HBB","hemoglobin mito"]
["HBA1","hemoglobin miyano"]
["HBB","hemoglobin miyashiro"]
["HBB","hemoglobin mizuho"]
["HBA1","hemoglobin mizushi"]
["HBB","hemoglobin mobile"]
["HBB","hemoglobin mont saint-aignan"]
["HBB","hemoglobin moriguchi"]
["HBB","hemoglobin moscva"]
["HBA1","hemoglobin mosella"]
["HBB","hemoglobin mozhaisk"]
["HBA1","hemoglobin mugino"]
["HBA1","hemoglobin munakata"]
["HBB","hemoglobin muscat"]
["HBB","hemoglobin muskegon"]
["HBA2","hemoglobin n"]
["HBB","hemoglobin n"]
["HBB","hemoglobin nagoya"]
["HBB","hemoglobin nakano"]
["HBB","hemoglobin neapolis"]
["HBA1","hemoglobin necker enfants-malades"]
["HBB","hemoglobin nevers"]
["HBB","hemoglobin new mexico"]
["HBB","hemoglobin newcastle"]
["HBB","hemoglobin nijkerk"]
["HBA2","hemoglobin nikaia"]
["HBB","hemoglobin niteroi"]
["HBA1","hemoglobin noko"]
["HBB","hemoglobin north chicago"]
["HBB","hemoglobin north shore"]
["HBB","hemoglobin north shore-caracas"]
["HBA2","hemoglobin norton"]
["HBB","hemoglobin nottingham"]
["HBA1","hemoglobin nouakchott"]
["HBA1","hemoglobin nunobiki"]
["HBA1","hemoglobin o"]
["HBB","hemoglobin o"]
["HBB","hemoglobin oak ridge"]
["HBB","hemoglobin ocho rios"]
["HBA1","hemoglobin oegstgeest"]
["HBB","hemoglobin ohio"]
["HBA1","hemoglobin oita"]
["HBB","hemoglobin okaloosa"]
["HBB","hemoglobin okayama"]
["HBB","hemoglobin okazaki"]
["HBB","hemoglobin old dominion"]
["HBA1","hemoglobin oleander"]
["HBA1","hemoglobin oliviere"]
["HBB","hemoglobin osu christiansborg"]
["HBA1","hemoglobin owari"]
["HBA1","hemoglobin ozieri"]
["HBB","hemoglobin p"]
["HBB","hemoglobin palmerston north"]
["HBA2","hemoglobin park ridge"]
["HBB","hemoglobin pasadena"]
["HBA1","hemoglobin perspolis"]
["HBB","hemoglobin perth"]
["HBB","hemoglobin peterborough"]
["HBB","hemoglobin pierre-benite"]
["HBA2","hemoglobin plasencia"]
["HBB","hemoglobin pocos de caldas"]
["HBB","hemoglobin poissy"]
["HBA1","hemoglobin poitiers"]
["HBA1","hemoglobin port huron"]
["HBB","hemoglobin porto alegre"]
["HBB","hemoglobin potomac"]
["HBB","hemoglobin puttelange"]
["HBB","hemoglobin pyrgos"]
["HBA1","hemoglobin q"]
["HBB","hemoglobin quebec-chori"]
["HBA2","hemoglobin quong sze"]
["HBB","hemoglobin radcliffe"]
["HBB","hemoglobin rahere"]
["HBB","hemoglobin raleigh"]
["HBA1","hemoglobin ramona"]
["HBA2","hemoglobin rampa"]
["HBB","hemoglobin rancho mirage"]
["HBB","hemoglobin randwick"]
["HBB","hemoglobin redondo"]
["HBA1","hemoglobin reims"]
["HBB","hemoglobin reissmann et al."]
["HBA1","hemoglobin riccarton"]
["HBB","hemoglobin rio claro"]
["HBB","hemoglobin rio grande"]
["HBB","hemoglobin riverdale-bronx"]
["HBB","hemoglobin riyadh"]
["HBA1","hemoglobin roanne"]
["HBB","hemoglobin rockford"]
["HBB","hemoglobin rothschild"]
["HBA1","hemoglobin roubaix"]
["HBB","hemoglobin rush"]
["HBA1","hemoglobin russ"]
["HBB","hemoglobin s"]
["HBB","hemoglobin sabine"]
["HBB","hemoglobin saint nazaire"]
["HBB","hemoglobin saitama"]
["HBB","hemoglobin saki"]
["HBA2","hemoglobin san antonio"]
["HBB","hemoglobin san diego"]
["HBB","hemoglobin san francisco"]
["HBB","hemoglobin santa ana"]
["HBB","hemoglobin santa clara"]
["HBB","hemoglobin santander"]
["HBA1","hemoglobin saratoga springs"]
["HBB","hemoglobin sarrebourg"]
["HBA1","hemoglobin sassari"]
["HBB","hemoglobin savannah"]
["HBB","hemoglobin saverne"]
["HBA1","hemoglobin sawara"]
["HBA2","hemoglobin seal rock"]
["HBA2","hemoglobin sealy"]
["HBB","hemoglobin seattle"]
["HBB","hemoglobin sendagi"]
["HBA1","hemoglobin setif"]
["HBB","hemoglobin shanghai"]
["HBB","hemoglobin shelby"]
["HBA1","hemoglobin shenyang"]
["HBB","hemoglobin shepherds bush"]
["HBB","hemoglobin sherwood forest"]
["HBB","hemoglobin showa-yakushiji"]
["HBA2","hemoglobin sinai"]
["HBA1","hemoglobin singapore"]
["HBB","hemoglobin siriraj"]
["HBB","hemoglobin sitia"]
["HBB","hemoglobin sogn"]
["HBB","hemoglobin south florida"]
["HBB","hemoglobin southampton"]
["HBA2","hemoglobin spanish town"]
["HBB","hemoglobin sparta"]
["HBB","hemoglobin st. antoine"]
["HBB","hemoglobin st. francis"]
["HBB","hemoglobin st. louis"]
["HBA1","hemoglobin st. luke's"]
["HBB","hemoglobin st. mande"]
["HBA1","hemoglobin stanleyville-ii"]
["HBB","hemoglobin strasbourg"]
["HBB","hemoglobin summer hill"]
["HBB","hemoglobin sunnybrook"]
["HBA1","hemoglobin sunshine seth"]
["HBA1","hemoglobin suresnes"]
["HBA1","hemoglobin swan river"]
["HBB","hemoglobin sydney"]
["HBB","hemoglobin syracuse"]
["HBB","hemoglobin t"]
["HBB","hemoglobin tacoma"]
["HBA1","hemoglobin tagawa i"]
["HBA1","hemoglobin tagawa ii"]
["HBB","hemoglobin takamatsu"]
["HBA1","hemoglobin tamano"]
["HBB","hemoglobin tampa"]
["HBA2","hemoglobin tarrant"]
["HBA1","hemoglobin tatras"]
["HBA1","hemoglobin taybe"]
["HBB","hemoglobin tende"]
["HBB","hemoglobin terre haute"]
["HBA1","hemoglobin thailand"]
["HBA1","hemoglobin thionville"]
["HBB","hemoglobin tigraye"]
["HBB","hemoglobin tilburg"]
["HBA1","hemoglobin titusville"]
["HBB","hemoglobin tizi-ouzou"]
["HBB","hemoglobin tochigi"]
["HBA1","hemoglobin tokyo"]
["HBA1","hemoglobin tonosho"]
["HBA1","hemoglobin tottori"]
["HBA2","hemoglobin toulon"]
["HBB","hemoglobin toulouse"]
["HBB","hemoglobin tours"]
["HBB","hemoglobin toyoake"]
["HBB","hemoglobin trento"]
["HBB","hemoglobin tripoli"]
["HBB","hemoglobin trollhaettan"]
["HBB","hemoglobin tsukumi"]
["HBB","hemoglobin tsurumai"]
["HBB","hemoglobin tubingen"]
["HBA1","hemoglobin tunis-bizerte"]
["HBA1","hemoglobin twin peaks"]
["HBB","hemoglobin ty gard"]
["HBB","hemoglobin tyne"]
["HBB","hemoglobin ube-1"]
["HBA1","hemoglobin umi"]
["HBA1","hemoglobin utsunomiya"]
["HBA2","hemoglobin val de marne"]
["HBB","hemoglobin vancouver"]
["HBB","hemoglobin vanderbilt"]
["HBB","hemoglobin vila real"]
["HBB","hemoglobin villaverde"]
["HBB","hemoglobin villejuif"]
["HBA1","hemoglobin villeurbanne"]
["HBB","hemoglobin volga"]
["HBB","hemoglobin warsaw"]
["HBB","hemoglobin washtenaw"]
["HBB","hemoglobin watford"]
["HBA2","hemoglobin watts"]
["HBA2","hemoglobin wayne"]
["HBB","hemoglobin willamette"]
["HBA1","hemoglobin winnipeg"]
["HBB","hemoglobin wood"]
["HBA1","hemoglobin woodville"]
["HBA1","hemoglobin wuming"]
["HBB","hemoglobin yahata"]
["HBB","hemoglobin yaizu"]
["HBB","hemoglobin yakima"]
["HBB","hemoglobin yaounde"]
["HBB","hemoglobin yatsushiro"]
["HBB","hemoglobin yokohama"]
["HBB","hemoglobin york"]
["HBB","hemoglobin yoshizuka"]
["HBB","hemoglobin ypsilanti"]
["HBA1","hemoglobin yuda"]
["HBB","hemoglobin yukuhashi"]
["HBA1","hemoglobin yukuhashi-2"]
["HBB","hemoglobin yusa"]
["HBA1","hemoglobin zambia"]
["HBB","hemoglobin zengcheng"]
["HBB","hemoglobin ziguinchor"]
["HBB","hemoglobin zoeterwoude"]
["HBB","hemoglobin zurich"]
["HADHA","hemolysis  elevated liver enzymes  and low platelets"]
["CD46","hemolysis  elevated liver enzymes & low platelet count"]
["CFH","hemolysis  elevated liver enzymes & low platelet count"]
["CFI","hemolysis  elevated liver enzymes & low platelet count"]
["GPI","hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency"]
["GPI","hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency"]
["DGKE","hemolytic uremic syndrome, atypical, susceptibility to, 7"]
["STXBP2","hemophagocytic lymphohistiocytosis type 5  atypical"]
["PRF1","hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to"]
["COL4A1","hemorrhage, intracerebral, susceptibility to"]
["COL4A2","hemorrhage, intracerebral, susceptibility to"]
["JAM3","hemorrhagic destruction of the brain, subependymal calcification, and cataracts"]
["SLC30A10","hepatic cirrhosis  dystonia  polycythaemia & hypermanganesaemia"]
["SCO1","hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency"]
["CTGF","hepatic fibrosis  association with"]
["TGFB1","hepatic fibrosis  association with"]
["SLC25A13","hepatitis  idiopathic neonatal"]
["HAVCR1","hepatitis a-induced acute liver failure  susceptibility to  association with"]
["IFNA2","hepatitis b  chronic  association with"]
["NLRX1","hepatitis b  chronic  association with"]
["TMEM2","hepatitis b  chronic  association with"]
["CD209","hepatitis b  protection against  association with"]
["FURIN","hepatitis b infection outcome  association with"]
["IFNAR2","hepatitis b persistence  association with"]
["IL10RB","hepatitis b persistence  association with"]
["IFNAR2","hepatitis b virus, susceptibility to"]
["IL10RB","hepatitis b virus, susceptibility to"]
["IL28B","hepatitis c clearance  association with"]
["TP53","hepatoblastoma"]
["APC","hepatoblastoma, somatic"]
["CTNNB1","hepatoblastoma, somatic"]
["CYP1B1","hepatocellular adenoma  increased risk with mutated tcf1"]
["MICA","hepatocellular carcinoma  hcv-related  increased risk"]
["TNFRSF10A","hepatocellular carcinoma  in hepatitis c--infected patients  association with"]
["AFP","hepatocellular carcinoma  increased risk  association with"]
["CYP19A1","hepatocellular carcinoma  increased risk  association with"]
["AFP","hepatocellular carcinoma  reduced risk  association with"]
["CDC6","hepatocellular carcinoma  reduced risk  association with"]
["MET","hepatocellular carcinoma, childhood type, somatic"]
["APC","hepatocellular carcinoma, somatic"]
["CTNNB1","hepatocellular carcinoma, somatic"]
["IGF2R","hepatocellular carcinoma, somatic"]
["PIK3CA","hepatocellular carcinoma, somatic"]
["TP53","hepatocellular carcinoma, somatic"]
["ABCB4","hepatocellular injury  drug-induced"]
["UROD","hepatoerythropoietic porphyria"]
["SERPING1","hereditary angioedema, type ii"]
["F12","hereditary angioedema, type iii"]
["CST3","hereditary cerebral amyloid angiopathy, icelandic type"]
["ALDOB","hereditary fructosuria"]
["CDH23","hereditary hearing loss and deafness"]
["COCH","hereditary hearing loss and deafness"]
["GJB2","hereditary hearing loss and deafness"]
["GJB6","hereditary hearing loss and deafness"]
["LOXHD1","hereditary hearing loss and deafness"]
["MYO15A","hereditary hearing loss and deafness"]
["MYO6","hereditary hearing loss and deafness"]
["OTOF","hereditary hearing loss and deafness"]
["PCDH15","hereditary hearing loss and deafness"]
["POU3F4","hereditary hearing loss and deafness"]
["SLC26A4","hereditary hearing loss and deafness"]
["TMC1","hereditary hearing loss and deafness"]
["TMIE","hereditary hearing loss and deafness"]
["TMPRSS3","hereditary hearing loss and deafness"]
["USH1C","hereditary hearing loss and deafness"]
["WFS1","hereditary hearing loss and deafness"]
["HFE2","hereditary hemochromatosis"]
["ENG","hereditary hemorrhagic telangiectasia type 1"]
["ACVRL1","hereditary hemorrhagic telangiectasia type 2"]
["NPTIIc","hereditary hypophosphataemic rickets with hypercalciuria  modifier of"]
["FH","hereditary leiomyomatosis and renal cell cancer"]
["MFN2","hereditary motor and sensory neuropathy with optic atrophy"]
["SLC5A7","hereditary motor neuropathy  type vii"]
["EXT2","hereditary multiple exostoses, type ii"]
["SEPT9","hereditary neuralgic amyotrophy"]
["PMS2","hereditary nonpolyposis colorectal cancer type 4"]
["TGFBR2","hereditary nonpolyposis colorectal cancer type 6"]
["MLH3","hereditary nonpolyposis colorectal cancer type 7"]
["CFTR","hereditary pancreatitis"]
["SDHB","hereditary paraganglioma-pheochromocytoma syndromes"]
["SDHD","hereditary paraganglioma-pheochromocytoma syndromes"]
["SDHB","hereditary paragangliomas and pheochromocytomas"]
["KLF1","hereditary persistence of fetal hemoglobin, klf1-related"]
["HBB","hereditary persistence of foetal haemoglobin"]
["FAM134B","hereditary sensory and autonomic neuropathy type iia"]
["WNK1","hereditary sensory and autonomic neuropathy type iia"]
["FAM134B","hereditary sensory and autonomic neuropathy type iib"]
["ALAS2","hereditary sideroblastic anemia"]
["HPS1","hermansky-pudlak syndrome 1"]
["HPS3","hermansky-pudlak syndrome 3"]
["HPS4","hermansky-pudlak syndrome 4"]
["HPS5","hermansky-pudlak syndrome 5"]
["DTNBP1","hermansky-pudlak syndrome 7"]
["BLOC1S3","hermansky-pudlak syndrome 8"]
["TLR3","herpes simplex encephalitis 2"]
["TRAF3","herpes simplex encephalitis, susceptibility to, 3"]
["TICAM1","herpes simplex encephalitis, susceptibility to, 4"]
["C21orf91","herpes simplex labialis  frequency  association with"]
["TBK1","herpes simplex virus encephalitis  childhood"]
["TLR3","herpes simplex virus encephalitis  childhood"]
["BCL9L","heterotaxy  visceral"]
["NAT10","heterotaxy with ciliary aplasia"]
["CFC1","heterotaxy, visceral, 2, autosomal"]
["ACVR2B","heterotaxy, visceral, 4, autosomal"]
["FLNA","heterotopia  nodular"]
["FLNA","heterotopia  periventricular"]
["FLNA","heterotopia  periventricular nodular"]
["FLNA","heterotopia  periventricular with skeletal dysplasia"]
["HEXA","hexa, czechoslovakian allele"]
["HEXA","hexa, dn allele"]
["HEXB","hexb polymorphism"]
["HEXB","hexosaminidase b, heat-labile polymorphism"]
["HFE","hfe intronic polymorphism"]
["HFE","hfe polymorphism"]
["LRP5","high bone mass"]
["CETP","high density lipoprotein cholesterol level quantitative trait locus 10"]
["LPL","high density lipoprotein cholesterol level quantitative trait locus 11"]
["SCARB1","high density lipoprotein cholesterol level quantitative trait locus 6"]
["EDN1","high density lipoprotein cholesterol level quantitative trait locus 7"]
["ABCG1","high hdl cholesterol"]
["APOC3","high hdl cholesterol"]
["C5orf35","high hdl cholesterol"]
["CUBN","high hdl cholesterol"]
["OSBPL3","high hdl cholesterol"]
["PBX4","high hdl cholesterol"]
["PLEC1","high hdl cholesterol"]
["SREBF2","high hdl cholesterol"]
["PCSK9","high ldl cholesterol  association with"]
["CBS","high methylation in males  association with"]
["CCDC111","high myopia"]
["PRPH","high myopia"]
["LUM","high myopia  association with"]
["DKFZp434K0614","high myopia  increased risk  association with"]
["LAMA1","high myopia  increased risk  association with"]
["LEP","high plasma leptin levels"]
["LPA","high total cholesterol"]
["MYLIP","high total cholesterol levels  association with"]
["APOC3","high triglyceride levels  association with"]
["CYP3A4","higher activity"]
["CDH13","higher adiponectin levels"]
["WFS1","higher aggression  association with"]
["FCGR3A","higher binding capacities"]
["NR0B2","higher birth weight  association with"]
["PRLHR","higher blood pressure  association with"]
["SLC14A2","higher blood pressure in males  association with"]
["EDN1","higher blood pressure in overweight people  association"]
["GGCX","higher body mass index  association with"]
["LEPR","higher body mass index  association with"]
["MTMR9","higher body mass index  association with"]
["CYP19A1","higher bone mass density  association with"]
["HSD11B1","higher bone mineral density  association with"]
["VDR","higher bone mineral density  association with"]
["CYP1B1","higher catalytic activity"]
["SERPINA6","higher cbg levels"]
["LIPC","higher cholesterol in hyperlipidaemia  association"]
["ACADSB","higher diastolic blood pressure in women  association with"]
["LRP5","higher femoral neck bone mineral density  association with"]
["CETP","higher hdl cholesterol level  association with"]
["AHR","higher induced cyp1a1 activity"]
["AGTR2","higher left ventricle mass index in hcm  association"]
["CCKAR","higher percent body fat  association with"]
["LIPG","higher plasma hdl cholesterol  association with"]
["LIPG","higher plasma hdl cholesterol  in african americans  association with"]
["INSIG1","higher plasma triglyceride level  association"]
["SELP","higher platelet selp measures"]
["IFNG","higher promoter activity"]
["IGFBP3","higher promoter activity  association with"]
["IL1RL1","higher sst2 levels  association with"]
["SLC9A4","higher sst2 levels  association with"]
["DNMT3L","higher standardised childhood intelligence score  association"]
["CYP11B2","higher systolic blood pressure  association with"]
["KLK1","higher systolic blood pressure  association with"]
["ACADSB","higher systolic blood pressure in women  association"]
["MS4A2","higher transcriptional activity"]
["MSH2","high-grade dysplasia/cancer in ulcerative colitis  association"]
["ADAM19","hip bone mineral density  association with"]
["C17orf53","hip bone mineral density  association with"]
["IBSP","hip bone mineral density  association with"]
["LRP4","hip bone mineral density  association with"]
["COL2A1","hip dysplasia and spinal osteochondritis"]
["FRZB","hip osteoarthritis  association with"]
["CARD10","hippocampal volume loss  association with"]
["AXIN2","hirschsprung disease  association with"]
["NRTN","hirschsprung disease  association with"]
["RET","hirschsprung disease  association with"]
["RET","hirschsprung disease  protection against  association with"]
["L1CAM","hirschsprung disease & hydrocephalus  x-linked"]
["RET","hirschsprung disease 1"]
["EDNRB","hirschsprung disease 2"]
["GDNF","hirschsprung disease 3"]
["EDN3","hirschsprung disease 4"]
["ITGB2","hirschsprung disease-associated enterocolitis"]
["HTN3","his2*1/his2*2 polymorphism"]
["HTN3","histatin 2 deficiency"]
["CCL5","hiv 1  delayed disease progression  association"]
["CCL5","hiv 1  rapid disease progression  association"]
["CCR2","hiv 1  resistance to  association with"]
["CCR5","hiv 1  resistance to  association with"]
["TRIM5","hiv 1  resistance to  association with"]
["TRIM5","hiv 1  susceptibility to  association with"]
["CYP7B1","hiv 1 infection  reduced risk  association with"]
["CLEC4M","hiv infection  susceptibility to  association"]
["CX3CR1","hiv infection  susceptibility to  association"]
["TGFBRAP1","hiv progression to aids  association with"]
["CLEC4M","hiv-1  mother-to-child-transmission  association with"]
["DEFB1","hiv-1 infection  association with"]
["PPIA","hiv-1 suscept  association with"]
["HLA-DQA1","hla null allele"]
["HLA-DRB1","hla null allele"]
["HLA-DRB5","hla null allele"]
["hla-b","hla-b null allele"]
["HLA-DOA","hla-doa null allele"]
["HLA-G","hla-g null allele"]
["CCND1","hnpcc  early onset  association with"]
["ALDOA","hnsha due to aldolase a deficiency"]
["ATM","hodgkin disease"]
["KLHDC8B","hodgkin lymphoma  association with"]
["GLI2","holoprosencephaly  lobar"]
["DLL1","holoprosencephaly  susceptibility to"]
["GLI2","holoprosencephaly with anophthalmia  branchial arch anomalies & cns anomalies"]
["CTH","homocysteine, total plasma, elevated"]
["MTHFR","homocysteinemia due to mthfr deficiency"]
["MMADHC","homocystinuria  cbld type"]
["MTRR","homocystinuria  cble type"]
["MTHFR","homocystinuria due to mthfr deficiency"]
["CBS","homocystinuria, pyridoxine-nonresponsive"]
["CBS","homocystinuria, pyridoxine-responsive"]
["KIAA1088","hoyeraal-hreidarsson syndrome"]
["HPRT1","hprt ann arbor"]
["HPRT1","hprt arlington"]
["HPRT1","hprt ashville"]
["HPRT1","hprt detroit"]
["HPRT1","hprt edinburgh"]
["HPRT1","hprt flint"]
["HPRT1","hprt fujimi"]
["HPRT1","hprt kinston"]
["HPRT1","hprt london"]
["HPRT1","hprt midland"]
["HPRT1","hprt milwaukee"]
["HPRT1","hprt montreal"]
["HPRT1","hprt moose jaw"]
["HPRT1","hprt munich"]
["HPRT1","hprt new briton"]
["HPRT1","hprt new haven"]
["HPRT1","hprt paris"]
["HPRT1","hprt swan"]
["HPRT1","hprt tokyo"]
["HPRT1","hprt toowong"]
["HPRT1","hprt toronto"]
["HPRT1","hprt urangan"]
["HPRT1","hprt yale"]
["CX3CR1","human immunodeficiency virus type 1, rapid progression to aids"]
["CNR1","huntington disease  age at onset  association with"]
["HAP1","huntington disease  delayed age-at-onset"]
["GRIN2B","huntington disease  earlier onset in females  association with"]
["LMNA","hutchinson-gilford progeria syndrome, atypical"]
["LMNA","hutchinson-gilford progeria syndrome, childhood-onset"]
["C6orf221","hydatidiform mole  complete"]
["C6orf221","hydatidiform mole  familial biparental"]
["C6orf221","hydatidiform mole  recurrent"]
["L1CAM","hydrocephalus  masa"]
["L1CAM","hydrocephalus  x-linked"]
["MPDZ","hydrocephalus, nonsyndromic, autosomal recessive 2"]
["L1CAM","hydrocephalus, x-linked, with hirschsprung disease"]
["DSTYK","hydronephrosis  congenital"]
["CHRNA1","hydrops fetalis  nonimmune"]
["SLC25A1","hydroxyglutaric aciduria  combined d-2 & l-2"]
["KCNJ5","hyperaldosteronism  type iii"]
["PLTP","hyperalphalipoproteinaemia  association with"]
["APOC3","hyperalphalipoproteinemia 2"]
["CPS1","hyperammonaemia  association with"]
["NAGS","hyperammonaemia  carbamylglutamate responsive"]
["PPARA","hyperapobetalipoproteinemia, susceptibility to"]
["UGT1A1","hyperbilirubinaemia  association with"]
["UGT1A6","hyperbilirubinaemia  association with"]
["UGT1A1","hyperbilirubinaemia  unconjugated"]
["UGT1A1","hyperbilirubinemia transient familial neonatal"]
["CASR","hypercalcaemia  association with"]
["CYP24A1","hypercalcaemia  hypercalciuria & elevated calcitriol concentrations"]
["CASR","hypercalcaemia  hypocalciuric"]
["CASR","hypercalcaemia  hypocalciuric & hyperparathyroidism"]
["CASR","hypercalcaemia  hypocalciuric & hypoparathyroidism"]
["GNA11","hypercalcaemia  hypocalciuric type 2"]
["AP2S1","hypercalcaemia  hypocalciuric type 3"]
["CYP24A1","hypercalcaemia  idiopathic infantile"]
["CYP24A1","hypercalcaemia  increased risk"]
["CASR","hypercalciuria  hypocalcaemic"]
["CLDN16","hypercalciuria, childhood, self-limiting"]
["CASR","hypercalciuric hypercalcemia"]
["B2M","hypercatabolic hypoproteinaemia  familial"]
["APOB","hypercholesterolaemia  association with"]
["NPC1L1","hypercholesterolaemia  association with"]
["PCSK9","hypercholesterolaemia  autosomal dominant"]
["LDLRAP1","hypercholesterolaemia  autosomal recessive"]
["APOE","hypercholesterolemia and hypertriglyceridemia, type iii"]
["PCSK9","hypercholesterolemia, autosomal dominant, 3"]
["APOB","hypercholesterolemia, autosomal dominant, type b"]
["LDLRAP1","hypercholesterolemia, autosomal recessive"]
["GLRB","hyperekplexia 2"]
["SLC6A5","hyperekplexia 3"]
["GLRA1","hyperekplexia hereditary"]
["GPHN","hyperekplexia hereditary"]
["PDGFRA","hypereosinophilic syndrome, idiopathic, resistant to imatinib"]
["FTL","hyperferritinemia cataract syndrome"]
["CYC1","hyperglycaemia  insulin-responsive"]
["GCKR","hyperglycaemia  reduced risk  association with"]
["IFI30","hyperglycaemia in obese patients  reduced risk  association with"]
["AMT","hyperglycinaemia  non-ketotic"]
["GLDC","hyperglycinaemia  non-ketotic"]
["GCSH","hyperglycinaemia  transient neonatal"]
["GLDC","hyperglycinaemia  transient neonatal"]
["SLC6A20","hyperglycinuria"]
["FOLR1","hyperhomocysteinaemia"]
["CHDH","hyperhomocysteinaemia  association with"]
["CBS","hyperhomocysteinemia, thrombotic, cbs-related"]
["DOCK8","hyper-ige syndrome  autosomal recessive"]
["AICDA","hyper-igm syndrome  type 2"]
["MVK","hyperimmunoglobulin d with periodic fever"]
["DOCK8","hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive"]
["STAT3","hyperimmunoglobulin e syndrome"]
["G6PC2","hyperinsulinaemia"]
["ABCC8","hyperinsulinaemia  association with"]
["ADRB3","hyperinsulinaemia  association with"]
["SEL1L","hyperinsulinaemic hypoglycaemia  association with"]
["GCK","hyperinsulinemic hypoglycemia familial 3"]
["INSR","hyperinsulinemic hypoglycemia familial 5"]
["TRPC5","hyperinsulinism"]
["ABCC8","hyperinsulinism  diffuse congenital"]
["ABCC8","hyperinsulinism  focal congenital"]
["GLUD1","hyperinsulinism-hyperammonemia syndrome"]
["CAMK2D","hyperinsulism"]
["DKFZp761N0624","hyperinsulism"]
["SCN4A","hyperkalemic periodic paralysis type 1"]
["LIPC","hyperlipidaemia"]
["LPL","hyperlipidaemia  association with"]
["RXRG","hyperlipidaemia  association with"]
["LPL","hyperlipidemia, familial combined"]
["USF1","hyperlipidemia, familial combined, susceptibility to"]
["TNF","hyperlipidemic pancreatitis  association with"]
["SLC30A10","hypermanganesemia with dystonia, polycythemia and cirrhosis"]
["ADK","hypermethioninemia due to adenosine kinase deficiency"]
["AHCY","hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency"]
["MFRP","hyperopia  high"]
["AGXT","hyperoxaluria  association with"]
["C10orf65","hyperoxaluria  primary type iii"]
["DHDPSL","hyperoxaluria  primary type iii"]
["HNF1B","hyperparathyroidism"]
["CDC73","hyperparathyroidism  isolated"]
["CASR","hyperparathyroidism  neonatal primary"]
["CDC73","hyperparathyroidism  primary"]
["MEN1","hyperparathyroidism 1"]
["CASR","hyperparathyroidism, neonatal severe"]
["PCSK1","hyperphagia and obesity  early onset"]
["PTS","hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency"]
["PCBD1","hyperphenylalaninemia, bh4-deficient, d"]
["PAH","hyperphenylalaninemia, non-pku"]
["PIGV","hyperphosphatasia with mental retardation syndrome 1"]
["PIGO","hyperphosphatasia with mental retardation syndrome 2"]
["PGAP2","hyperphosphatasia with mental retardation syndrome 3"]
["KITLG","hyperpigmentation, familial progressive, 2"]
["INS","hyperproinsulinemia, familial"]
["PRODH","hyperprolinaemia  association with"]
["REN","hyperproreninemia, familial"]
["HLA-A","hypersensitivity syndrome, carbamazepine-induced, susceptibility to"]
["ACSM3","hypertension  association with"]
["ADC","hypertension  association with"]
["ADD1","hypertension  association with"]
["ADRA1A","hypertension  association with"]
["AGT","hypertension  association with"]
["AGTR1","hypertension  association with"]
["BDKRB2","hypertension  association with"]
["CHGA","hypertension  association with"]
["CORIN","hypertension  association with"]
["CTSL1","hypertension  association with"]
["GNB3","hypertension  association with"]
["GOSR2","hypertension  association with"]
["HSD11B2","hypertension  association with"]
["HSD3B1","hypertension  association with"]
["KLF5","hypertension  association with"]
["KLKB1","hypertension  association with"]
["NOS2","hypertension  association with"]
["NOS3","hypertension  association with"]
["PLD2","hypertension  association with"]
["RGS2","hypertension  association with"]
["SCG2","hypertension  association with"]
["SCNN1B","hypertension  association with"]
["SLC12A3","hypertension  association with"]
["SLC7A1","hypertension  association with"]
["STK39","hypertension  association with"]
["TH","hypertension  association with"]
["XDH","hypertension  association with"]
["NR3C2","hypertension  early onset exacerbated in pregnancy"]
["FSHR","hypertension  female  association with"]
["HSD11B2","hypertension  hypokalemic"]
["WNK4","hypertension  in caucasians  association with"]
["WNK4","hypertension  in men  association with"]
["REN","hypertension  increased risk  association with"]
["EDNRA","hypertension  protection against  association with"]
["KCNMB1","hypertension  protection against  association with"]
["ATP2A2","hypertension  reduced risk  association with"]
["FBLN2","hypertension  reduced risk  association with"]
["SCNN1A","hypertension  reduced risk  association with"]
["KCNMB1","hypertension  response to verapamil  association with"]
["EDN2","hypertension  severity  association with"]
["CAT","hypertension  susceptibility to  association"]
["KLKB1","hypertension in drinkers  association with"]
["COMT","hypertension in men  association with"]
["HMOX1","hypertension in women  association with"]
["NOS3","hypertension resistant to conventional therapy"]
["KCNMB1","hypertension, diastolic, resistance to"]
["NR3C2","hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy"]
["AGT","hypertension, essential, susceptibility to"]
["AGTR1","hypertension, essential, susceptibility to"]
["NOS3","hypertension, pregnancy-induced, susceptibility to"]
["ADD1","hypertension, salt-sensitive essential, susceptibility to"]
["BMP10","hypertensive dilated cardiomyopathy  association with"]
["SCO2","hyperthermia  fatal infantile"]
["TSHR","hyperthyroidism  autoimmune  association with"]
["TSHR","hyperthyroidism  gestational"]
["TSHR","hyperthyroidism  nonautoimmune"]
["TSHR","hyperthyroidism  nongoitrous & nonautoimmune"]
["TSHR","hyperthyrotropinaemia  nonautoimmune isolated"]
["ALB","hyperthyroxinemia, dysalbuminemic"]
["SLC10A2","hypertriglyceridaemia"]
["ZHX3","hypertriglyceridaemia"]
["APOA5","hypertriglyceridaemia  association with"]
["RP1","hypertriglyceridaemia  association with"]
["GPD1","hypertriglyceridaemia  infantile"]
["FABP4","hypertriglyceridaemia  reduced risk  association with"]
["APOA5","hypertriglyceridemia, susceptibility to"]
["LIPI","hypertriglyceridemia, susceptibility to"]
["RP1","hypertriglyceridemia, susceptibility to"]
["COX15","hypertrophic cardiomyopathy  early onset"]
["NDUFAF1","hypertrophic cardiomyopathy  fatal infantile"]
["MTO1","hypertrophic cardiomyopathy  lactic acidosis and respiratory chain deficiency"]
["SLCO2A1","hypertrophic osteoarthropathy  primary"]
["SLCO2A1","hypertrophic osteoarthropathy  primary with digital clubbing"]
["FHL1","hypertrophy  left ventricular"]
["PRKAG2","hypertrophy  left ventricular"]
["PRKAG2","hypertrophy  moderate"]
["CFTR","hypertrypsinaemia  low sweat chloride"]
["CFTR","hypertrypsinaemia  neonatal"]
["CFTR","hypertrypsinemia, neonatal, susceptibility to"]
["UMOD","hyperuricaemic nephropathy  juvenile"]
["SerRSmt","hyperuricemia  pulmonary hypertension  renal failure & alkalosis"]
["REN","hyperuricemic nephropathy, familial juvenile, 2"]
["BTK","hypoagammaglobulinemia, x-linked"]
["CYP11B2","hypoaldosteronism  primary selective"]
["ANGPTL3","hypobetalipoproteinemia, familial, 2"]
["APOB","hypobetalipoproteinemia, familial, associated with apob32"]
["APOB","hypobetalipoproteinemia, normotriglyceridemic"]
["CASR","hypocalcemia, autosomal dominant"]
["GCM2","hypocalcemia, autosomal dominant"]
["PTH","hypocalcemia, autosomal dominant"]
["CASR","hypocalcemia, autosomal dominant 1"]
["CASR","hypocalcemia, autosomal dominant 1, with bartter syndrome"]
["GNA11","hypocalcemia, autosomal dominant 2"]
["CASR","hypocalciuric hypercalcemia, familial, type 1"]
["AP2S1","hypocalciuric hypercalcemia, familial, type 3"]
["CP","hypoceruloplasminemia"]
["APOB","hypocholesterolaemia  association with"]
["APOB","hypocholesterolaemia  steatosis and liver cancer"]
["TF","hypochromic microcytic anaemia & haemosiderosis"]
["SLC11A2","hypochromic microcytic anemia with iron overload"]
["STEAP3","hypochromic microcytic anemia with iron overload 2"]
["WNT10A","hypodontia  non-syndromic"]
["FGA","hypodysfibrinogenemia, congenital"]
["FGB","hypofibrinogenemia, congenital"]
["ELF4","hypogammaglobulinaemia"]
["LRBA","hypogammaglobulinaemia  early-onset with autoimmunity & inflammatory bowel disease"]
["G6PC","hypoglycaemia  association with"]
["ABCC8","hypoglycaemia  hyperinsulinaemic"]
["GCK","hypoglycaemia  hyperinsulinaemic"]
["HADH","hypoglycaemia  hyperinsulinaemic"]
["HNF1A","hypoglycaemia  hyperinsulinaemic"]
["HNF4A","hypoglycaemia  hyperinsulinaemic"]
["NR2A1","hypoglycaemia  hyperinsulinaemic"]
["GYS2","hypoglycaemia  ketotic"]
["PTEN","hypoglycaemia  macrocephaly  developmental delay  short stature and coagulopathy"]
["ABCC8","hypoglycaemia  persistent hyperinsulinaemic"]
["KCNJ11","hypoglycaemia  persistent hyperinsulinaemic"]
["GYS2","hypoglycemia with deficiency of glycogen synthetase in the liver"]
["LHCGR","hypogonadism  male"]
["LHB","hypogonadism, male"]
["KAL1","hypogonadotrophic hypogonadism  idiopathic"]
["OTUD4","hypogonadotropic hypogonadism  ataxia & dementia"]
["RNF216","hypogonadotropic hypogonadism  ataxia & dementia"]
["DUSP6","hypogonadotropic hypogonadism  idiopathic"]
["FGF17","hypogonadotropic hypogonadism  idiopathic"]
["FGF8","hypogonadotropic hypogonadism  idiopathic"]
["FGFR1","hypogonadotropic hypogonadism  idiopathic"]
["HS6ST1","hypogonadotropic hypogonadism  idiopathic"]
["KAL1","hypogonadotropic hypogonadism  idiopathic"]
["KISS1R","hypogonadotropic hypogonadism  idiopathic"]
["NR5A1","hypogonadotropic hypogonadism  idiopathic"]
["PIN1","hypogonadotropic hypogonadism  idiopathic"]
["SPRY4","hypogonadotropic hypogonadism  idiopathic"]
["GNRHR","hypogonadotropic hypogonadism  isolated"]
["KISS1R","hypogonadotropic hypogonadism  isolated"]
["KISS1","hypogonadotropic hypogonadism  normosmic idiopathic"]
["TAC3","hypogonadotropic hypogonadism 10 without anosmia"]
["TACR3","hypogonadotropic hypogonadism 11 with or without anosmia"]
["WDR11","hypogonadotropic hypogonadism 14 with or without anosmia"]
["SEMA3A","hypogonadotropic hypogonadism 16 with or without anosmia"]
["SPRY4","hypogonadotropic hypogonadism 17 with or without anosmia"]
["IL17RD","hypogonadotropic hypogonadism 18 with anosmia"]
["IL17RD","hypogonadotropic hypogonadism 18 with anosmia, susceptibility to"]
["DUSP6","hypogonadotropic hypogonadism 19 with or without anosmia"]
["FGFR1","hypogonadotropic hypogonadism 2 with anosmia"]
["FGFR1","hypogonadotropic hypogonadism 2 with anosmia, susceptibility to"]
["FGF17","hypogonadotropic hypogonadism 20 with or without anosmia"]
["FGF17","hypogonadotropic hypogonadism 20 without anosmia"]
["FLRT3","hypogonadotropic hypogonadism 21 with anosmia, susceptibility to"]
["FLRT3","hypogonadotropic hypogonadism 21 with or without anosmia"]
["CHD7","hypogonadotropic hypogonadism 5 without anosmia"]
["GNRHR","hypogonadotropic hypogonadism 7 with anosmia"]
["GNRHR","hypogonadotropic hypogonadism 7 without anosmia"]
["KISS1R","hypogonadotropic hypogonadism 8 with or without anosmia"]
["KISS1R","hypogonadotropic hypogonadism 8 without anosmia"]
["NSMF","hypogonadotropic hypogonadism 9 with or without anosmia"]
["EDA","hypohidrotic ectodermal dysplasia"]
["EDA2R","hypohidrotic ectodermal dysplasia"]
["CACNA1S","hypokalaemic periodic paralysis  association with"]
["CACNA1S","hypokalemic periodic paralysis 1"]
["SCN4A","hypokalemic periodic paralysis 1"]
["TH","hypokinetic-hypotonic syndrome  infantile"]
["ANGPTL3","hypolipidaemia  combined"]
["SREBF1","hypolipidaemia  primary combined"]
["FXYD2","hypomagnesaemia  renal"]
["TRPM6","hypomagnesaemia with secondary hypocalcaemia  mental retardation & short stature"]
["EGF","hypomagnesemia  isolated"]
["CLDN19","hypomagnesemia  renal failure & severe ocular abnormalities"]
["GJC2","hypomyelinating leukodystrophy  type 2"]
["POLR3A","hypomyelinating leukodystrophy 7"]
["POLR3B","hypomyelinating leukodystrophy 8"]
["POLR3A","hypomyelination  cerebellar atrophy & corpus callosum hypoplasia"]
["POLR3B","hypomyelination  cerebellar atrophy & corpus callosum hypoplasia"]
["POLR3A","hypomyelination  hypodontia & hypogonadotropic hypogonadism"]
["POLR3A","hypomyelination  hypodontia & hypogonadotropic hypogonadism with late-onset growth hormone deficiency"]
["FAM126A","hypomyelination and congenital cataract"]
["TUBB4","hypomyelination with atrophy of the basal ganglia and cerebellum"]
["DARS","hypomyelination with brainstem and spinal cord involvement and leg spasticity"]
["TRPV4","hyponatraemia  association with"]
["CASR","hypoparathyroidism  autosomal dominant"]
["GATA3","hypoparathyroidism  deafness and renal dysplasia"]
["TBCE","hypoparathyroidism retardation dysmorphism syndrome"]
["FAM20C","hypophosphataemia  dental anomalies & ectopic calcification"]
["ALPL","hypophosphatasia  association with"]
["ARNT2","hypopituitarism  post-natal microcephaly  visual & renal anomalies"]
["PROKR2","hypopituitarism and septo-optic dysplasia"]
["NKX2-5","hypoplastic left heart syndrome 2"]
["B2M","hypoproteinemia, hypercatabolic"]
["ESR2","hypospadias  association with"]
["NR5A1","hypospadias and cryptorchidism"]
["DUOX2","hypothyroidism  delayed-onset"]
["PAX8","hypothyroidism  early onset  non-autoimmune"]
["NKX2-1","hypothyroidism  neonatal respiratory distress  and ataxia"]
["DUOX2","hypothyroidism  transient"]
["TSHR","hypothyroidism, congenital, nongoitrous, 1"]
["THRA","hypothyroidism, congenital, nongoitrous, 6"]
["FOXE1","hypothyroidism, thyroidal, with spiky hair and cleft palate"]
["RYR1","hypotonia  lethal neonatal"]
["SLC16A2","hypotonia  severe neonatal  and developmental delay"]
["CDH3","hypotrichosis  autosomal recessive"]
["CDSN","hypotrichosis 2"]
["KRT74","hypotrichosis 3"]
["DSG4","hypotrichosis 6"]
["P2RY5","hypotrichosis and woolly hair"]
["SNRPE","hypotrichosis simplex  autosomal dominant"]
["GPATCH8","hypouricaemia  juvenile-onset"]
["SLC22A12","hypouricaemia  renal"]
["GJB2","hystrix-like ichthyosis with deafness"]
["GNPTAB","i cell disease"]
["ABCA12","ichthyosiform erythroderma  congenital"]
["ABCA12","ichthyosiform erythroderma  congenital  nonbullous"]
["TGM1","ichthyosiform erythroderma  congenital  nonbullous"]
["GJB2","ichthyosiform erythroderma  corneal involvement & deafness"]
["ALOX12B","ichthyosiform erythroderma  nonbullous 1"]
["ALOXE3","ichthyosiform erythroderma  nonbullous 1"]
["CLDN1","ichthyosis  alopecia  and sclerosing cholangitis"]
["NIPAL4","ichthyosis  autosomal recessive"]
["PNPLA1","ichthyosis  autosomal recessive congenital"]
["ST14","ichthyosis  autosomal recessive with hypotrichosis"]
["TGM1","ichthyosis  bathing suit"]
["ALOX12B","ichthyosis  congenital  autosomal recessive"]
["ALOXE3","ichthyosis  congenital  autosomal recessive"]
["CYP4F22","ichthyosis  congenital  autosomal recessive"]
["LASS3","ichthyosis  congenital  autosomal recessive"]
["TGM1","ichthyosis  congenital  autosomal recessive"]
["LIPN","ichthyosis  congenital  autosomal recessive  late-onset"]
["KRT1","ichthyosis  curthmacklin"]
["ST14","ichthyosis  follicular atrophoderma & hypotrichosis"]
["ABCA12","ichthyosis  harlequin"]
["NIPAL4","ichthyosis  harlequin"]
["ELOVL4","ichthyosis  intellectual disability and spastic quadriplegia"]
["TGM1","ichthyosis  lamellar"]
["ABCA12","ichthyosis  lamellar  type 2"]
["KRT10","ichthyosis  with confetti"]
["KRT1","ichthyosis  with epidermolytic hyperkeratosis"]
["STS","ichthyosis  x-linked"]
["KRT2","ichthyosis bullosa  siemens"]
["KRT2","ichthyosis exfoliativa"]
["MBTPS2","ichthyosis follicularis  alopecia & photophobia"]
["MBTPS2","ichthyosis follicularis  atrichia & photophobia"]
["KRT1","ichthyosis histrix, curth-macklin type"]
["KRT1","ichthyosis hystrix  curth-macklin type"]
["CTLA4","iddm  association with"]
["CACNA1H","idiopathic epilepsy  generalised"]
["CACNB4","idiopathic epilepsy  generalised"]
["ClC-2","idiopathic epilepsy  generalised"]
["CLCN2","idiopathic epilepsy  generalised"]
["EFHC1","idiopathic epilepsy  generalised"]
["GABRA6","idiopathic epilepsy  generalised"]
["HCN1","idiopathic epilepsy  generalised"]
["SFTPA2","idiopathic fibrosing alveolitis, chronic form"]
["TERT","idiopathic fibrosing alveolitis, chronic form"]
["GHRHR","idiopathic growth hormone deficiency"]
["CYP24A1","idiopathic hypercalcemia of infancy"]
["CR1","idiopathic pulmonary fibrosis  association with"]
["SFTPA1","idiopathic pulmonary fibrosis  association with"]
["ZBTB38","idiopathic short stature  reduced risk"]
["IDUA","idua pseudodeficiency"]
["MBTPS2","ifap syndrome with or without bresheck syndrome"]
["ACTN4","iga nephropathy"]
["ACTN4","iga nephropathy  association with"]
["FCAR","iga nephropathy  association with"]
["IGF1","igf1 levels  association with"]
["FCGR1A","igg receptor i  phagocytic  deficiency"]
["FCGR1A","igg receptor i, phagocytic, familial deficiency of"]
["IL21R","il21r immunodeficiency"]
["AMN","imerslund-grsbeck syndrome"]
["CUBN","imerslund-grsbeck syndrome"]
["SLC6A19","iminoglycinuria  association with"]
["SLC36A2","iminoglycinuria, digenic"]
["SLC6A20","iminoglycinuria, digenic"]
["ORAI1","immune dysfunction with t-cell inactivation due to calcium entry defect 1"]
["STIM1","immune dysfunction with t-cell inactivation due to calcium entry defect 2"]
["STIM1","immunodeficiency  autoimmune disease and myopathy"]
["RBCK1","immunodeficiency  autoinflammation & amylopectinosis"]
["IRF8","immunodeficiency  autosomal dominant"]
["IRF8","immunodeficiency  autosomal recessive"]
["KIAA0441","immunodeficiency  centromeric instability & facial anomalies syndrome"]
["DNMT3B","immunodeficiency  centromeric instability and facial anomalies syndrome"]
["KIAA0441","immunodeficiency  centromeric instability and facial anomalies syndrome 2"]
["DOCK8","immunodeficiency  combined"]
["MALT1","immunodeficiency  combined"]
["TTC7A","immunodeficiency  combined  with intestinal atresias"]
["ICOS","immunodeficiency  common variable"]
["LRBA","immunodeficiency  common variable"]
["NFKB2","immunodeficiency  common variable"]
["TACI","immunodeficiency  common variable"]
["TNFRSF13C","immunodeficiency  common variable"]
["ZAP70","immunodeficiency  late onset"]
["PIK3CD","immunodeficiency  primary b-cell"]
["ADA","immunodeficiency  severe combined"]
["CARD11","immunodeficiency  severe combined"]
["CD247","immunodeficiency  severe combined"]
["CD3D","immunodeficiency  severe combined"]
["CORO1A","immunodeficiency  severe combined"]
["DCLRE1C","immunodeficiency  severe combined"]
["IL2RG","immunodeficiency  severe combined"]
["IL7R","immunodeficiency  severe combined"]
["JAK3","immunodeficiency  severe combined"]
["LIG4","immunodeficiency  severe combined"]
["PTPRC","immunodeficiency  severe combined"]
["RAG1","immunodeficiency  severe combined"]
["RAG2","immunodeficiency  severe combined"]
["ZAP70","immunodeficiency  severe combined"]
["ADA","immunodeficiency  severe combined  atypical"]
["DCLRE1C","immunodeficiency  severe combined  atypical"]
["IL7R","immunodeficiency  severe combined  atypical"]
["LIG4","immunodeficiency  severe combined  atypical"]
["RAG1","immunodeficiency  severe combined  atypical"]
["RAG1","immunodeficiency  severe combined  b cell -ve"]
["RAG2","immunodeficiency  severe combined  b cell -ve"]
["RAG1","immunodeficiency  severe combined  t & b cell -ve"]
["RAG2","immunodeficiency  severe combined  t & b cell -ve"]
["CD247","immunodeficiency  t-cell defect"]
["ZAP70","immunodeficiency  t-cell defect"]
["MAGT1","immunodeficiency  x-linked"]
["XIAP","immunodeficiency  x-linked"]
["MALT1","immunodeficiency 12"]
["CD247","immunodeficiency due to defect in cd3-zeta, somatic"]
["FCN3","immunodeficiency due to ficolin 3 deficiency"]
["SH2D1A","immunodeficiency syndrome  common variable"]
["CD40LG","immunodeficiency with hyper igm type 1"]
["AICDA","immunodeficiency with hyper igm type 2"]
["CD40","immunodeficiency with hyper igm type 3"]
["UNG","immunodeficiency with hyper igm type 5"]
["NFKB2","immunodeficiency, common variable, 1"]
["LRBA","immunodeficiency, common variable, 8, with autoimmunity"]
["TNFRSF13B","immunoglobulin a deficiency 2"]
["PIGR","immunoglobulin a nephropathy  association with"]
["SELE","immunoglobulin a nephropathy  association with"]
["HLA-DRA","immunoglobulin a nephropathy  increased risk  association"]
["LHB","immunologically anomalous variant  association"]
["MC1R","impaired activity"]
["MTNR1A","impaired cell surface expression"]
["IL6","impaired cognitive development  association with"]
["ALDH5A1","impaired cognitive function  association with"]
["ADRA2C","impaired coupling  association with"]
["MRE11A","impaired dna repair  association with"]
["NEDD4L","impaired enac regulation"]
["FOXA1","impaired glucose homeostasis"]
["STX1A","impaired glucose metabolism in obesity  association with"]
["PTAFR","impaired g-protein activation  association with"]
["CD1E","impaired lipid antigen presentation  association with"]
["TLR1","impaired receptor function  association with"]
["TRIM5","impaired retroviral defence  association with"]
["MEN1","impaired sensitisation to apoptosis"]
["DDX25","impaired spermatogenesis  association with"]
["RHCG","impaired transport activity"]
["IMPDH2","impdh2 enzyme activity, variation in"]
["XPA","improved adduct removal"]
["GSTK1","improved insulin secretion  association with"]
["CLSTN2","improved memory performance  association with"]
["WWC1","improved memory performance  association with"]
["ACADM","improved splicing efficiency"]
["HTR2B","impulsivity  association with"]
["DAPK1","inactivation of erk-induced apoptosis  association"]
["CFTR","inadequate weight gain"]
["SELPLG","incident coronary heart disease  decreased risk  association"]
["MYH2","inclusion body myopathy 3"]
["IKBKG","incontinentia pigmenti  familial"]
["GALK1","increased  galk1 activity"]
["GPX4","increased 5-lipoxygenase metabolism"]
["ACE","increased ace activity"]
["CNR2","increased activity"]
["CYP2D6","increased activity"]
["DNASE1","increased activity"]
["FPR1","increased activity"]
["GLYAT","increased activity"]
["GSTP1","increased activity"]
["GUSB","increased activity"]
["HLCS","increased activity"]
["LOXL1","increased activity"]
["MAOB","increased activity"]
["MCHR1","increased activity"]
["MEFV","increased activity"]
["NR1I2","increased activity"]
["PAH","increased activity"]
["PLA2G7","increased activity"]
["PNMT","increased activity"]
["SCNN1A","increased activity"]
["SLC28A2","increased activity"]
["XDH","increased activity"]
["CYP1A2","increased activity in smokers  association with"]
["CYP19A1","increased activity in tumours"]
["VCAM1","increased adhesion of monocytes to endothelial cells"]
["LRRFIP1","increased adiposity and inflammation  association with"]
["VWF","increased affinity for gpib alpha"]
["TPH2","increased amygdala activity"]
["MC1R","increased analgesia from kappa-opioid receptor agonist, female-specific"]
["AGT","increased angiotensinogen levels  association with"]
["APOBEC3H","increased antiretroviral activity"]
["APOB","increased apob and cholesterol levels  association with"]
["FFAR1","increased beta-cell function  association with"]
["GIP","increased bioactivity"]
["LEPR","increased birth weight  association with"]
["CASR","increased blood ionised calcium level"]
["AVPR1A","increased blood pressure  association with"]
["NR3C2","increased blood pressure  association with"]
["CLCNKA","increased blood pressure after na-load  association with"]
["IL6R","increased bmi  association with"]
["LIPC","increased bmi  association with"]
["MFRP","increased bmi  association with"]
["PIK3R1","increased bmi  association with"]
["AGRP","increased body mass index  association with"]
["CRHR1","increased body mass index  association with"]
["MTNR1B","increased body mass/decreased fasting plasma glucose  association with"]
["PPARG","increased body weight  association with"]
["TRPV5","increased calcium influx"]
["CCL2","increased carotid intima-media thickness  association with"]
["FMO3","increased catalytic activity"]
["POLL","increased chromosomal instability"]
["KCNS1","increased chronic pain  association with"]
["FGB","increased clot stiffness  association with"]
["CYP19A1","increased cortical bone mass density  association with"]
["TREM2","increased c-reactive protein levels  association with"]
["SLC26A9","increased current and chloride ion transport"]
["HSPA1L","increased cytokine concentrations  association with"]
["CPA1","increased degredation during activation"]
["CXCL5","increased ena-78 plasma levels"]
["MYC","increased enhancer activity"]
["CYP27B1","increased enyzme activity"]
["AS3MT","increased enzyme activity"]
["CHIA","increased enzyme activity"]
["EPHX2","increased enzyme activity"]
["MME","increased enzyme activity"]
["PLA2G4A","increased enzyme activity"]
["PRODH","increased enzyme activity"]
["EPHX1","increased ephx1 activity"]
["MTHFR","increased erythrocyte folate concentration  association with"]
["ADH1B","increased expression"]
["ATP7B","increased expression"]
["BAALC","increased expression"]
["CCDC159","increased expression"]
["CDKN2A","increased expression"]
["CFTR","increased expression"]
["FADS2","increased expression"]
["HBE1","increased expression"]
["HES6","increased expression"]
["IL2RA","increased expression"]
["MMP9","increased expression"]
["NPPA","increased expression"]
["ODC1","increased expression"]
["PTEN","increased expression"]
["SIRT1","increased expression"]
["SLC6A4","increased expression"]
["SMC4","increased expression"]
["TSPYL5","increased expression"]
["VHL","increased expression"]
["DRD2","increased expression  association with"]
["KIR3DL1","increased expression levels"]
["NPY2R","increased expression levels"]
["ZNF350","increased expression levels"]
["F13A1","increased factor xiii specific activity"]
["MTNR1B","increased fasting glucose  & descreased homa-b  association with"]
["ADRA2A","increased fasting glucose levels  association with"]
["PAX6","increased fasting insulin  association with"]
["G6PC2","increased fasting plasma glucose levels  association with"]
["SGSM2","increased fasting proinsulin concentration  association with"]
["TBC1D30","increased fasting proinsulin concentration  association with"]
["ESR2","increased femoral bone mineral density in men  association"]
["IL6R","increased femoral neck bone mineral density  association with"]
["CCR2","increased flow mediated dilation  in prediabetics  association"]
["BCL11A","increased foetal haemoglobin levels  association with"]
["SHMT1","increased folate levels  association with"]
["SLC22A12","increased fractional excretion of uric acid  association"]
["GDF5","increased gene expression"]
["HSD11B1","increased gene expression and activity"]
["AGTR2","increased glomerular filtration rate  in males"]
["PARD6A","increased glucose tolerance  association with"]
["EDAR","increased hair thickness  in asians  association with"]
["ESR1","increased hdl cholesterol  association with"]
["LPL","increased hdl cholesterol  association with"]
["ESR1","increased hdl cholesterol after hrt  association with"]
["CD36","increased hdl level  association with"]
["PLTP","increased hdl-c levels"]
["SBNO1","increased head circumference  association with"]
["HMGA2","increased height  association with"]
["PPARG","increased height/lipid metabolism  association with"]
["CCR5","increased hiv1  perinatal transmission  association"]
["SLC19A1","increased homocysteine levels  association with"]
["IL4","increased ige levels  association with"]
["IL21R","increased ige levels in females  association with"]
["NLRP1","increased il-1b release"]
["G6PC2","increased insulin secretion  association with"]
["ARHGEF12","increased insulin sensitivity  association with"]
["ID3","increased intima-media thickness  association"]
["TNFRSF11B","increased intima-media thickness  association"]
["SLC26A4","increased ion transport activity"]
["PPARD","increased ldl cholesterol  association with"]
["LRP5","increased lrp5 signalling"]
["XRCC1","increased lung cancer risk  association with"]
["SLC6A15","increased maximal 3h proline uptake"]
["CCL13","increased mcp-4 plasma levels"]
["SIRT5","increased molecular brain aging  association with"]
["CHRNA5","increased mrna expression"]
["KDR","increased mrna expression"]
["TPH2","increased mrna expression"]
["ANKRD6","increased muscle size  association with"]
["ACVR1B","increased muscle strength  association with"]
["CPA1","increased n-glycosylation"]
["IL1B","increased nuclear protein binding and reduced transcription"]
["ITGA4","increased peripheral blood monocyte counts  association with"]
["LPAR1","increased peripheral blood monocyte counts  association with"]
["FCGR3A","increased phagocytosis  association with"]
["SERPINA3","increased plasma act concentration"]
["F7","increased plasma f7 levels  association with"]
["GPD2","increased plasma ffa and glycerol levels"]
["PARL","increased plasma insulin levels  association with"]
["LDLR","increased plasma ldl cholesterol  association with"]
["PPARG","increased plasma leptin levels in obesity  association"]
["PROS1","increased plasma protein s"]
["SEPP1","increased plasma se levels  in males  association with"]
["TFPI","increased plasma tfpi"]
["SREBF2","increased plasma total cholesterol levels  association with"]
["APOA5","increased plasma triglyceride levels"]
["APOA5","increased plasma triglyceride levels  association"]
["KCNJ6","increased postoperative analgesic requirements  association with"]
["FGA","increased post-stroke mortality  association with"]
["ABCB4","increased promoter activity"]
["ABCC1","increased promoter activity"]
["ADH1B","increased promoter activity"]
["AGRP","increased promoter activity"]
["APOA5","increased promoter activity"]
["CDH1","increased promoter activity"]
["CDH3","increased promoter activity"]
["CDKN1B","increased promoter activity"]
["CHI3L2","increased promoter activity"]
["CPB2","increased promoter activity"]
["CREB1","increased promoter activity"]
["CREB3L4","increased promoter activity"]
["CYP1A2","increased promoter activity"]
["CYP2C19","increased promoter activity"]
["CYP2D6","increased promoter activity"]
["DUOX2","increased promoter activity"]
["ERBB4","increased promoter activity"]
["EXT1","increased promoter activity"]
["F7","increased promoter activity"]
["FSHR","increased promoter activity"]
["GABRB3","increased promoter activity"]
["GGH","increased promoter activity"]
["HBG2","increased promoter activity"]
["IFNGR1","increased promoter activity"]
["IL12RB2","increased promoter activity"]
["IL4","increased promoter activity"]
["MFSD2A","increased promoter activity"]
["NFKBIL1","increased promoter activity"]
["NR1H3","increased promoter activity"]
["OPRM1","increased promoter activity"]
["RB1CC1","increased promoter activity"]
["SFTPB","increased promoter activity"]
["SLC47A1","increased promoter activity"]
["SLC47A2","increased promoter activity"]
["UGT1A4","increased promoter activity"]
["VCAM1","increased promoter activity"]
["ZPBP2","increased promoter activity"]
["HTR2C","increased promoter activity  association with"]
["RAD51","increased promoter activity  association with"]
["TSLP","increased promoter activity  association with"]
["TRPV1","increased protein expression"]
["ICAM1","increased protein stability"]
["SLCO1B1","increased rate of cholesterol synthesis  association with"]
["ADRA2A","increased receptor activity"]
["ERCC2","increased response to uv  association with"]
["SLC6A4","increased rigid-compulsive behaviour in autism  association with"]
["ABCA1","increased risk of coronary artery disease  association with"]
["vWF-CP","increased risk of death in cad  association with"]
["ABCA1","increased risk of ischemic heart disease"]
["CYP2E1","increased risk of relapsing pneumonia  association with"]
["ABCG5","increased serum cholesterol  association with"]
["NPC1L1","increased serum cholesterol  association with"]
["ABCG8","increased serum cholesterol  in low-cholesterol consumers"]
["FCER1A","increased serum ige level"]
["STAT6","increased serum ige level  association with"]
["MBL2","increased serum mbl level"]
["XYLT1","increased serum xt1 activity in pseudoxanthoma elasticum  association"]
["FCGR2A","increased signal transduction activity"]
["SLC24A5","increased skin pigmentation  association with"]
["HHIP","increased sp3 binding / decreased enhancer activity"]
["ESR2","increased spine bone mineral density  association"]
["ESR2","increased spine bone mineral density in men  association"]
["SYNE2","increased spine bone mineral density in men  association"]
["ADAMTS16","increased systolic blood pressure  association with"]
["CCL17","increased tarc serum level"]
["SFTPA1","increased tgfb1 secretion"]
["TCN2","increased total-tc concentrations"]
["ADH4","increased transcription"]
["GLA","increased transcription"]
["IL9","increased transcription"]
["LEP","increased transcription"]
["REN","increased transcription"]
["RHOB","increased transcription"]
["CR2","increased transcriptional activity"]
["CYP2E1","increased transcriptional activity"]
["CYP7B1","increased transcriptional activity"]
["GFAP","increased transcriptional activity"]
["GRK4","increased transcriptional activity"]
["GSTT1","increased transcriptional activity"]
["KDR","increased transcriptional activity"]
["MMP13","increased transcriptional activity"]
["NPTN","increased transcriptional activity"]
["PDYN","increased transcriptional activity"]
["STAT5B","increased transcriptional activity"]
["STS","increased transcriptional activity"]
["SLC6A4","increased transporter activity"]
["APOD","increased triglyceride level in males"]
["ADRA2A","increased trunk to extremity skinfold ratio in women  association"]
["CYP4F2","increased vitamin e-{omega}-hydroxylase activity to tocopherols"]
["CNR1","increased waist circumference in obese men  association"]
["AQP4","increased water permeability"]
["UCP1","increased weight gain  association with"]
["NRXN1","increased white matter volume  association with"]
["SOCS3","increased whole-body insulin sensitivity  association with"]
["CD44","indian blood group system polymorphism"]
["PRRT2","infantile convulsions  benign familial"]
["PRRT2","infantile convulsions  paroxysmal dyskinesia & migraine"]
["ALPL","infantile hypophosphatasia"]
["TRMU","infantile liver failure  increased risk"]
["LARS","infantile liver failure syndrome 1"]
["MARS","infantile liver failure syndrome 2"]
["NOTCH3","infantile myofibromatosis 1"]
["PDGFRB","infantile myofibromatosis 1"]
["NALCN","infantile neuroaxonal dystrophy with facial dysmorphism"]
["NALCN","infantile neuroaxonal neurodegeneration with facial dysmorphism"]
["SLC6A3","infantile parkinsonism-dystonia"]
["SCN2A","infantile seizures  benign"]
["COL4A1","infantile spasms"]
["TSC2","infantile spasms and epilepsy"]
["ALS2","infantile-onset ascending hereditary spastic paralysis"]
["TIRAP","infectious disease  protection against  association with"]
["TSSK4","infertility  association with"]
["LHB","infertility  female  association with"]
["AR","infertility  idiopathic"]
["USP26","infertility  idiopathic"]
["AR","infertility  male"]
["AURKC","infertility  male"]
["FKBPL","infertility  male"]
["PLCZ1","infertility  male"]
["PACRG","infertility  male  association with"]
["PGAM4","infertility  male  association with"]
["FKBP6","infertility  protection against  association with"]
["YBX2","infertility  protection against  association with"]
["LHB","infertility, male and female"]
["ABCB1","inflammatory bowel disease  association with"]
["BPI","inflammatory bowel disease  association with"]
["GLI1","inflammatory bowel disease  association with"]
["IL12B","inflammatory bowel disease  association with"]
["IL1R1","inflammatory bowel disease  association with"]
["MST1","inflammatory bowel disease  association with"]
["MYO9B","inflammatory bowel disease  association with"]
["NKX2-3","inflammatory bowel disease  association with"]
["SLC15A1","inflammatory bowel disease  association with"]
["CARD9","inflammatory bowel disease  protection against  association with"]
["DLG5","inflammatory bowel disease  risk  association with"]
["NCF2","inflammatory bowel disease  very early onset  association with"]
["NOD2","inflammatory bowel disease 1, susceptibility to"]
["ATG16L1","inflammatory bowel disease 10, susceptibility to"]
["IL23R","inflammatory bowel disease 17, protection against"]
["IRGM","inflammatory bowel disease 19"]
["IL10RB","inflammatory bowel disease 25"]
["IL10RA","inflammatory bowel disease 28"]
["CIITA","inflammatory diseases  association with"]
["MYLK","inflammatory lung disease  association with"]
["IFITM3","influenza  severe  increased risk"]
["PTGS1","inhibition of prostaglandin h2 formation  association"]
["ITPA","inosine triphosphatase deficiency"]
["TAS1R1","insensitivity to glutamate taste  association with"]
["TAS1R3","insensitivity to glutamate taste  association with"]
["PGR","insensitivity to mifepristone"]
["SPAG16","instability of central apparatus proteins"]
["DHCR7","insufficient activity during embryogenesis"]
["INS","insulin los angeles"]
["DIO2","insulin resistance  association with"]
["ENPP1","insulin resistance  association with"]
["FABP2","insulin resistance  association with"]
["HNF1A","insulin resistance  association with"]
["PPP1R3A","insulin resistance  association with"]
["TRIB3","insulin resistance  association with"]
["PPARG","insulin resistance  diabetes and hypertension"]
["GYS1","insulin resistance  mild  association with"]
["FOXC2","insulin resistance  protection against  association"]
["IRS2","insulin resistance  severe"]
["RETN","insulin resistance hypertension  reduced risk  association"]
["SLC27A4","insulin resistance syndrome  association with"]
["ENPP1","insulin resistance, susceptibility to"]
["HNF1A","insulin resistance, susceptibility to"]
["IRS1","insulin resistance, susceptibility to"]
["PPP1R3A","insulin resistance, susceptibility to"]
["COX7A2","insulin secretion  association with"]
["NDUFC2","insulin secretion  association with"]
["DDAH2","insulin sensitivity  association with"]
["SCD","insulin sensitivity and waist circumference  association with"]
["INS","insulin wakayama"]
["APOC3","insulin/nefa levels  association with"]
["IGF1R","insulin-like growth factor 1 resistance to"]
["PAM","insulinogenic index  association with"]
["C12orf65","intellectual disability"]
["CAMK2G","intellectual disability"]
["KIAA0424","intellectual disability"]
["LINS1","intellectual disability"]
["ANK3","intellectual disability  adhd-like syndrome & behavioural problems"]
["PGAP2","intellectual disability  autosomal recessive"]
["SCN2A","intellectual disability  developmental delay  seizures & hypotonia"]
["BCAP31","intellectual disability  dystonia and sensorineural deafness"]
["EXOSC3","intellectual disability  early-onset spasticity  and cerebellar atrophy"]
["CASK","intellectual disability  microcephaly  pontocerebellar hypoplasia"]
["DYRK1A","intellectual disability  microcephaly & epilepsy"]
["ERLIN2","intellectual disability  motor dysfunction & joint contractures"]
["ARD1A","intellectual disability  nonsyndromic"]
["ARIH1","intellectual disability  nonsyndromic"]
["CACNG2","intellectual disability  nonsyndromic"]
["CHD2","intellectual disability  nonsyndromic"]
["CUX2","intellectual disability  nonsyndromic"]
["DEAF1","intellectual disability  nonsyndromic"]
["EIF2C1","intellectual disability  nonsyndromic"]
["EPB41L1","intellectual disability  nonsyndromic"]
["GRIN1","intellectual disability  nonsyndromic"]
["HCFC1","intellectual disability  nonsyndromic"]
["HIVEP2","intellectual disability  nonsyndromic"]
["IQSEC2","intellectual disability  nonsyndromic"]
["KCNQ3","intellectual disability  nonsyndromic"]
["KIAA1033","intellectual disability  nonsyndromic"]
["KIF1A","intellectual disability  nonsyndromic"]
["MED12","intellectual disability  nonsyndromic"]
["NRXN1","intellectual disability  nonsyndromic"]
["PACT","intellectual disability  nonsyndromic"]
["SATB2","intellectual disability  nonsyndromic"]
["SCN2A","intellectual disability  nonsyndromic"]
["SCN8A","intellectual disability  nonsyndromic"]
["SETBP1","intellectual disability  nonsyndromic"]
["SETD5","intellectual disability  nonsyndromic"]
["SLC2A1","intellectual disability  nonsyndromic"]
["SLC6A1","intellectual disability  nonsyndromic"]
["STAG1","intellectual disability  nonsyndromic"]
["STXBP1","intellectual disability  nonsyndromic"]
["SYNCRIP","intellectual disability  nonsyndromic"]
["SYNGAP1","intellectual disability  nonsyndromic"]
["TCF4","intellectual disability  nonsyndromic"]
["MAN1B1","intellectual disability  nonsyndromic  autosomal recessive"]
["ZC3H14","intellectual disability  nonsyndromic  autosomal recessive"]
["MED13L","intellectual disability  nonsyndromic  no cardiac involvement"]
["STXBP1","intellectual disability  nonsyndromic without epilepsy"]
["AP4B1","intellectual disability  spastic paraplegia & short stature"]
["AP4E1","intellectual disability  spastic paraplegia & short stature"]
["AP4S1","intellectual disability  spastic paraplegia & short stature"]
["CCDC22","intellectual disability  syndromic x-linked"]
["JM1","intellectual disability  syndromic x-linked"]
["ATRX","intellectual disability  x-linked"]
["CLIC2","intellectual disability  x-linked"]
["KDM5C","intellectual disability  x-linked"]
["UBE2A","intellectual disability  x-linked"]
["UBE2A","intellectual disability  x-linked  nascimento type"]
["TBC1D7","intellectual disability & megalencephaly"]
["CASK","intellectual disability & microcephaly with pontine & cerebellar hypoplasia"]
["ADAT3","intellectual disability & strabismus"]
["IFNGR1","interferon gamma receptor deficiency"]
["IFNGR2","interferon gamma receptor deficiency"]
["SHH","interhemispheric fusion  single nostril nose"]
["DBT","intermediate maple syrup urine disease type 2"]
["DMD","intermediate muscular dystrophy"]
["NKX2-5","interrupted aortic arch"]
["GADD45B","inter-ventricular septum hypertrophy  assoc"]
["COL9A2","intervertebral disc disease, susceptibility to"]
["COL9A3","intervertebral disc disease, susceptibility to"]
["FLNA","intestinal pseudoobstruction neuronal chronic idiopathic x-linked"]
["PPARG","intimal medial thickness of internal carotid artery, modifier of"]
["ALOX5AP","intracerebral haemorrhage  association with"]
["COL4A1","intracerebral haemorrhage  foetal"]
["COL4A1","intracerebral haemorrhage  late-onset"]
["PDGFD","intracerebral hemorrhage  association with"]
["COL3A1","intracranial aneurysm  association with"]
["LOXL2","intracranial aneurysm  association with"]
["EDNRA","intracranial aneurysm  increased risk  association with"]
["ENG","intracranial aneurysm  increased risk  association with"]
["COL1A2","intracranial aneurysm  susceptibility  association with"]
["COL4A1","intracranial calcification"]
["POLG","intractable epilepsy  childhood-onset"]
["ABCB11","intrahepatic cholestasis  benign recurrent"]
["ATP8B1","intrahepatic cholestasis  benign recurrent"]
["ABCB11","intrahepatic cholestasis  benign recurrent 2"]
["ABCB11","intrahepatic cholestasis  familial benign"]
["ABCB11","intrahepatic cholestasis  familial progressive"]
["ABCB4","intrahepatic cholestasis  familial progressive"]
["ATP8B1","intrahepatic cholestasis  familial progressive"]
["ABCB11","intrahepatic cholestasis  familial progressive  association with"]
["ATP8B1","intrahepatic cholestasis  familial progressive 1"]
["ABCB11","intrahepatic cholestasis  familial progressive 2"]
["ABCB4","intrahepatic cholestasis  familial progressive 3"]
["ATP8B1","intrahepatic cholestasis  greenland type"]
["SLC25A13","intrahepatic cholestasis  neonatal"]
["SLC25A13","intrahepatic cholestasis  neonatal with multiple ovarian antral follicles"]
["ABCB4","intrahepatic cholestasis of pregnancy  association"]
["ABCC2","intrahepatic cholestasis of pregnancy  association with"]
["NR1H4","intrahepatic cholestasis of pregnancy  association with"]
["OLFM2","intraocular pressure  association with"]
["IGF1R","intrauterine growth retardation  dysmorphic features & insulin resistance"]
["CD209","intrauterine hiv-1 infection  increased risk"]
["GIF","intrinsic factor deficiency, congenital, susceptibility to"]
["PLG","invasive aspergillosis  susceptibility"]
["NFKBIA","invasive pneumococcal disease  protection against"]
["TIRAP","invasive pneumococcal disease, protection against"]
["FOXC1","irido-corneo-trabecular dysgenesis"]
["ACTB","iris coloboma with ptosis, hypertelorism, and mental retardation"]
["TF","iron deficiency anaemia  susceptibility association with"]
["SLC40A1","iron overload disease  ferroportin-associated"]
["TGFBR2","iron overload disease  ferroportin-associated"]
["HFE","iron overload trait  association with"]
["TMPRSS6","iron status and erythrocyte volume  association with"]
["HTR3E","irritable bowel syndrome  diarrhoea predominant  in females  association"]
["ADORA1","ischaemic cardiomyopathy  infarct size  association with"]
["ADORA3","ischaemic cardiomyopathy  infarct size  association with"]
["ABCG1","ischaemic heart disease  increased risk  association with"]
["APOA1","ischaemic heart disease  increased risk  association with"]
["APOB","ischaemic stroke  association with"]
["PON1","ischaemic stroke  reduced risk"]
["SCNN1A","ischemic cerebrovascular events  association with"]
["NOS3","ischemic heart disease, susceptibility to"]
["C5","ischemic stroke  association with"]
["NOTCH3","ischemic stroke  protection against"]
["F2","ischemic stroke, susceptibility to"]
["NOS3","ischemic stroke, susceptibility to"]
["KCNJ11","islet cell hyperplasia"]
["CYP17A1","isolated 17,20-lyase deficiency"]
["GHRHR","isolated growth hormone deficiency type 1b"]
["NR0B1","isolated mineralocorticoid deficiency  association with"]
["IVD","isovaleric acidemia, type i"]
["ITIH1","itih1 null allele"]
["ITPA","itpase deficiency  association with"]
["ASAH1","jankovic rivera syndrome"]
["WDR34","jeune asphyxiating thoracic dystrophy"]
["WDR60","jeune syndrome"]
["SLC14A1","jk-null variant, finnish type"]
["CHST5","joubert syndrome"]
["AHI1","joubert syndrome  modifier of"]
["CEP290","joubert syndrome  senior-loken type"]
["INPP5E","joubert syndrome 1"]
["CEP41","joubert syndrome 12/15, digenic"]
["TCTN1","joubert syndrome 13"]
["TMEM237","joubert syndrome 14"]
["ARL13B","joubert syndrome 8"]
["SMAD4","jp and jp/hht"]
["SMAD4","jp, jp/hht, and hht"]
["SMAD4","jp/hht"]
["IL6","juvenile arthritis  lower risk  association"]
["GLB1","juvenile gm>1< gangliosidosis"]
["HNF1B","juvenile hyperuricemic nephropathy  familial"]
["MIF","juvenile idiopathic arthritis  association with"]
["ARHGAP26","juvenile myelomonocytic leukemia"]
["NRAS","juvenile myelomonocytic leukemia"]
["SMAD4","juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"]
["ALS2","juvenile primary lateral sclerosis"]
["AIPL1","juvenile retinitis pigmentosa, aipl1-related"]
["PSMB8","juvenile rheumatoid arthritis  association with"]
["TNF","juvenile rheumatoid arthritis  association with"]
["CCR5","juvenile rheumatoid arthritis  reduced risk  assoc"]
["ACTB","juvenile-onset dystonia"]
["KEL","k"]
["N/A","kabuki make-up syndrome"]
["KLK1","kallikrein, decreased urinary activity of"]
["KAL1","kallmann syndrome  reversible"]
["PROKR2","kallmann syndrome  reversible"]
["PROKR2","kallmann syndrome 3"]
["PROK2","kallmann syndrome 4"]
["CHD7","kallmann syndrome 5"]
["FGF8","kallmann syndrome 6"]
["TNFRSF4","kaposi sarcoma"]
["PLA2G6","karak syndrome"]
["UBE3B","kaufman oculocerebrofacial syndrome"]
["ITPKC","kawasaki disease  association with"]
["TNFRSF1A","kawasaki disease  association with"]
["KEL","kel6 antigen"]
["KEL","kell k/k blood group polymorphism"]
["FAM111A","kenny syndrome"]
["PAX6","keratitis  autosomal dominant"]
["GJB2","keratitis-ichthyosis-deafness syndrome  atypical"]
["KRT17","keratitis-ichthyosis-deafness syndrome  modifier of"]
["GJB2","keratitis-ichthyosis-deafness syndrome, autosomal dominant"]
["VSX1","keratoconus  association with"]
["IL1RN","keratoconus  familial"]
["PTCH1","keratocystic odontogenic tumours"]
["KRT9","keratoderma  epidermolytic palmoplantar"]
["KRT1","keratoderma  epidermolytic palmoplantar with tontubular keratin"]
["KRT1","keratoderma  non-epidermolytic palmoplantar"]
["KRT16","keratoderma  non-epidermolytic palmoplantar"]
["KRT1","keratoderma  palmoplantar"]
["AQP5","keratoderma  palmoplantar  diffuse nonepidermolytic"]
["AAGAB","keratoderma  palmoplantar  punctate"]
["COL14A1","keratoderma  palmoplantar  punctate"]
["AAGAB","keratoderma  palmoplantar  punctate  buschke-fischer-brauer type"]
["KRT1","keratoderma  striate palmoplantar"]
["ATP2A2","keratosis follicularis"]
["FGFR3","keratosis, seborrheic, somatic"]
["PIK3CA","keratosis, seborrheic, somatic"]
["SLC4A1","kernicterus  acute"]
["SLC14A1","kidd blood polymorphism jk"]
["HNF1B","kidney and urinary tract abnormalities"]
["KNG1","kininogen deficiency, total"]
["PAX1","klippel-feil syndrome"]
["GDF6","klippel-feil syndrome 1, autosomal dominant"]
["LPAR1","knee osteoarthritis  susceptibility to  association"]
["COL18A1","knobloch syndrome 1"]
["GJB2","knuckle pads  hyperkeratosis and deafness"]
["GJB2","knuckle pads  leukonychia  sensorineural deafness"]
["ROGDI","kohlschtter-tnz syndrome"]
["GALC","krabbe disease  association with"]
["CTSF","kufs disease  type b"]
["SMN1","kugelberg-welander disease"]
["PRNP","kuru, protection against"]
["FKBP10","kuskokwim syndrome"]
["KMO","kynurenic acid levels in cerebrospinal fluid  association with"]
["FGF3","labyrinthine aplasia  microtia & microdontia"]
["LCT","lactase deficiency  congenital"]
["MCM6","lactase persistence"]
["LCT","lactase persistence  association with"]
["NDUFS6","lactic acidemia  neonatal"]
["FGF10","ladd syndrome"]
["FGFR2","ladd syndrome"]
["FGFR3","ladd syndrome"]
["PRDM8","lafora body disease  early-onset"]
["LAMA2","laminin alpha 2 chain deficiency  partial"]
["LMNA","laminopathy"]
["GRIN2A","landau-kleffner syndrome"]
["GRIN2A","landau-kleffner syndrome  atypical rolandic epilepsy  dysphasia  csws syndrome"]
["ICAM4","landsteiner-wiener phenotype"]
["GHR","laron syndrome with undetectable serum gh-binding protein"]
["FLNB","larsen syndrome  autosomal dominant"]
["CHST3","larsen syndrome  autosomal recessive"]
["FLNB","larsen syndrome, dominant type"]
["B3GAT3","larsen-like syndrome  b3gat3 type"]
["C1QTNF5","late-onset retinal degeneration"]
["ERLIN2","lateral sclerosis  juvenile primary"]
["N/A","lathosterolosis"]
["TGFBI","lattice corneal dystrophy type 3a"]
["HADHA","lchad deficiency with maternal acute fatty liver of pregnancy"]
["APOC1","ldl cholesterol levels  association with"]
["PRKAA2","ldl-cholesterol & total cholesterol levels  association"]
["SORT1","ldl-cholesterol levels  association with"]
["FUT3","le"]
["AHSG","leanness  association with"]
["AGRP","leanness, inherited"]
["AHSG","leanness, susceptibility to"]
["MECP2","learning disability with progressive ataxia  spasticity and dystonia"]
["GDF6","leber congenital amaurosis"]
["INPP5E","leber congenital amaurosis"]
["OTX2","leber congenital amaurosis"]
["RPGR","leber congenital amaurosis"]
["SNRNP200","leber congenital amaurosis"]
["RPGRIP1","leber congenital amaurosis  cone-rod"]
["RD3","leber congenital amaurosis / retinal dystrophy  early-onset severe"]
["GUCY2D","leber congenital amaurosis 1"]
["GDF6","leber congenital amaurosis 17"]
["SPATA7","leber congenital amaurosis 3"]
["LCA5","leber congenital amaurosis 5"]
["CRX","leber congenital amaurosis 7"]
["CRB1","leber congenital amaurosis 8"]
["NMNAT1","leber congenital amaurosis 9"]
["PEX1","leber's amaurosis"]
["ESR1","left ventricular hypertrophy  association with"]
["GDF15","left ventricular hypertrophy  lower risk  association"]
["MYH7","left ventricular noncompaction"]
["DTNA","left ventricular noncompaction 1"]
["MYBPC3","left ventricular noncompaction 10"]
["LDB3","left ventricular noncompaction 3"]
["ACTC1","left ventricular noncompaction 4"]
["MYH7","left ventricular noncompaction 5"]
["MIB1","left ventricular noncompaction 7"]
["PRDM16","left ventricular noncompaction 8"]
["TPM1","left ventricular noncompaction 9"]
["LEFTY2","left-right axis malformations"]
["CFC1","left-right laterality defect"]
["TLR5","legionellosis"]
["TLR5","legionnaires disease  association with"]
["NDUFS7","leigh syndrome  association with"]
["SLC19A3","leigh syndrome  early-childhood fatal"]
["C12orf65","leigh syndrome  optic atrophy & ophthalmoplegia"]
["MTFMT","leigh syndrome due to mitochondrial complex i deficiency"]
["NDUFAF6","leigh syndrome due to mitochondrial complex i deficiency"]
["NDUFS7","leigh syndrome due to mitochondrial complex i deficiency"]
["SDHA","leigh syndrome due to mitochondrial complex ii deficiency"]
["BCS1L","leigh syndrome due to mitochondrial complex iii deficiency"]
["LRPPRC","leigh syndrome, french canadian type"]
["C5","leiner disease"]
["FH","leiomyomatosis  renal cell cancer and male infertility"]
["DCX","lennox-gastaut syndrome"]
["RAF1","leopard syndrome"]
["PTPN11","leopard syndrome 1"]
["RAF1","leopard syndrome 2"]
["C13orf31","leprosy  association with"]
["MBL2","leprosy  association with"]
["PACRG","leprosy  association with"]
["TGFBR2","leprosy  association with"]
["TLR1","leprosy  association with"]
["MRC1","leprosy  protection against  association with"]
["TLR1","leprosy  protection against  association with"]
["TLR2","leprosy  susceptibility  association with"]
["BAT1","leprosy  susceptibility to  association with"]
["BTNL2","leprosy  susceptibility to  association with"]
["LTA","leprosy  susceptibility to  association with"]
["NFKBIL1","leprosy  susceptibility to  association with"]
["TNF","leprosy  susceptibility to  association with"]
["TLR2","leprosy 3"]
["TLR1","leprosy 5"]
["TLR1","leprosy, protection against"]
["LEPR","leptin receptor polymorphism"]
["SHOX","leri weill dyschondrosteosis"]
["HPRT1","lesch-nyhan syndrome  female"]
["HPRT1","lesch-nyhan syndrome  variant"]
["HPRT1","lesch-nyhan syndrome, neurologic variant"]
["GLE1","lethal arthrogryoposis with anterior horn cell disease"]
["SLC16A2","leucoencephalopathy  x-linked"]
["RUNX1","leukaemia  chronic myelomonocytic"]
["CBL","leukaemia  juvenile myelomonocytic"]
["RMI1","leukaemia  myelodysplastic syndrome  melanoma  association with"]
["DKK3","leukemia  association with"]
["EGF","leukemia  risk   association with"]
["ERCC3","leukemia  risk   association with"]
["AKR7A3","leukemia  risk  association with"]
["APOC4","leukemia  risk  association with"]
["BAT4","leukemia  risk  association with"]
["BUB1B","leukemia  risk  association with"]
["CAPN13","leukemia  risk  association with"]
["CLCA2","leukemia  risk  association with"]
["EPHA7","leukemia  risk  association with"]
["FBLIM1","leukemia  risk  association with"]
["HUS1B","leukemia  risk  association with"]
["MCM3AP","leukemia  risk  association with"]
["MMP10","leukemia  risk  association with"]
["MMP9","leukemia  risk  association with"]
["MSH5","leukemia  risk  association with"]
["MYO18B","leukemia  risk  association with"]
["NUDT6","leukemia  risk  association with"]
["OGG1","leukemia  risk  association with"]
["OVGP1","leukemia  risk  association with"]
["POLB","leukemia  risk  association with"]
["PPIG","leukemia  risk  association with"]
["RB1CC1","leukemia  risk  association with"]
["SHROOM3","leukemia  risk  association with"]
["TNXB","leukemia  risk  association with"]
["TOP1MT","leukemia  risk  association with"]
["ZC3H3","leukemia  risk  association with"]
["ZNF233","leukemia  risk  association with"]
["ZNF24","leukemia  risk  association with"]
["FLT3","leukemia, acute lymphoblastic, somatic"]
["HOXD4","leukemia, acute lymphoblastic, susceptibility to"]
["JAK2","leukemia, acute myelogenous, somatic"]
["KIT","leukemia, acute myeloid"]
["RUNX1","leukemia, acute myeloid, m0 subtype"]
["CEBPA","leukemia, acute myeloid, somatic"]
["ETV6","leukemia, acute myeloid, somatic"]
["FLT3","leukemia, acute myeloid, somatic"]
["TERT","leukemia, acute myeloid, susceptibility to"]
["ABL1","leukemia, philadelphia chromosome-positive, resistant to imatinib"]
["NQO1","leukemia, post-chemotherapy, susceptibility to"]
["MMP3","leukoaraiosis  association with"]
["LILRA3","leukocyte ig-like receptor 3 deficiency"]
["TMEM187","leukodystrophy  x-linked"]
["POLR3B","leukodystrophy, hypomyelinating, 8, with hypodontia and hypogonadotropic hypogonadism"]
["DARS2","leukoencephalopathy  brain & spine involvement  lactate elevation"]
["SDHAF1","leukoencephalopathy  infantile"]
["KCNT1","leukoencephalopathy and severe epilepsy"]
["ClC-2","leukoencephalopathy with white matter oedema"]
["FUT3","lewis antigen  absence"]
["PRNP","lewy body dementia"]
["SNCA","lewy body dementia"]
["SNCB","lewy body dementia"]
["LHCGR","leydig cell hypoplasia, partial"]
["LHCGR","leydig hypoplasia, type i"]
["FTL","l-ferritin deficiency"]
["EXO1","life expectancy in centenarians  association with"]
["CHEK2","li-fraumeni syndrome  increased risk"]
["TP53","li-fraumeni syndrome 1"]
["CHEK2","li-fraumeni syndrome 2"]
["NOS3","limb deficiency defect  association with"]
["MYOT","limb-girdle muscular dystrophy, type 1a"]
["CAV3","limb-girdle muscular dystrophy, type 1c"]
["DNAJB6","limb-girdle muscular dystrophy, type 1e"]
["CAPN3","limb-girdle muscular dystrophy, type 2a"]
["SGCD","limb-girdle muscular dystrophy, type 2f"]
["TCAP","limb-girdle muscular dystrophy, type 2g"]
["TTN","limb-girdle muscular dystrophy, type 2j"]
["ANO5","limb-girdle muscular dystrophy, type 2l"]
["POMT1","limb-girdle muscular dystrophy-dystroglycanopathy, type c1"]
["GMPPB","limb-girdle muscular dystrophy-dystroglycanopathy, type c14"]
["POMT2","limb-girdle muscular dystrophy-dystroglycanopathy, type c2"]
["POMGNT1","limb-girdle muscular dystrophy-dystroglycanopathy, type c3"]
["FKTN","limb-girdle muscular dystrophy-dystroglycanopathy, type c4"]
["FKRP","limb-girdle muscular dystrophy-dystroglycanopathy, type c5"]
["DAG1","limb-girdle muscular dystrophy-dystroglycanopathy, type c9"]
["CD22","limited cutaneous systemic sclerosis  association with"]
["PCDH15","lipid levels in hyperlipidaemia  association with"]
["AGPAT2","lipodystrophy  congenital generalized"]
["BSCL2","lipodystrophy  congenital generalized"]
["FOS","lipodystrophy  congenital generalized"]
["PTRF","lipodystrophy  congenital generalized"]
["CIDEC","lipodystrophy  partial"]
["LMNB2","lipodystrophy  partial  acquired"]
["CAV1","lipodystrophy  partial  atypical"]
["CAV1","lipodystrophy, congenital generalized, type 3"]
["LMNA","lipodystrophy, familial partial, type 2"]
["CIDEC","lipodystrophy, familial partial, type 5"]
["LPA","lipoprotein"]
["SCARB1","lipoprotein levels  association with"]
["LPL","lipoprotein lipase"]
["LPL","lipoprotein lipase deficiency  association with"]
["LPL","lipoprotein lipase deficiency  partial"]
["LPL","lipoprotein lipase polymorphism"]
["PCK1","lipoprotein/triglyceride levels  association with"]
["PAFAH1B1","lissencephaly  isolated"]
["POMGNT1","lissencephaly  type ii"]
["POMT1","lissencephaly  type ii"]
["POMT2","lissencephaly  type ii"]
["ARX","lissencephaly  x-linked  with abnormal genitalia"]
["DCX","lissencephaly syndrome  x linked"]
["VLDLR","lissencephaly with cerebellar hypoplasia"]
["MMP7","liver cirrhosis  association with"]
["SERPINB3","liver cirrhosis  association with"]
["KRT18","liver disease  susceptibility to"]
["KRT8","liver disease  susceptibility to"]
["TRMU","liver failure acute infantile"]
["CD86","liver transplant  reduced risk of acute rejection"]
["TGFBR1","loeys-dietz syndrome  type i"]
["TGFBR1","loeys-dietz syndrome  type ii"]
["TGFBR2","loeys-dietz syndrome  type ii"]
["TGFBR1","loeys-dietz syndrome type 1a"]
["TGFBR2","loeys-dietz syndrome type 1b"]
["TGFBR1","loeys-dietz syndrome type 2a"]
["TGFBR2","loeys-dietz syndrome type 2b"]
["KCNE2","long qt interval  drug induced  association with"]
["ANK2","long qt syndrome  drug-associated"]
["KCNH2","long qt syndrome  drug-associated"]
["SCN5A","long qt syndrome  drug-associated"]
["KCNE1","long qt syndrome  drug-induced"]
["KCNH2","long qt syndrome  epilepsy & sudden death"]
["KCNH2","long qt syndrome  latent"]
["SCN5A","long qt syndrome  malignant perinatal variant"]
["KCNQ1","long qt syndrome  modifier of"]
["KCNQ1","long qt syndrome 1, recessive"]
["KCNH2","long qt syndrome 1/2, digenic"]
["KCNQ1","long qt syndrome 1/2, digenic"]
["AKAP9","long qt syndrome 11"]
["KCNJ5","long qt syndrome 13"]
["ALG10","long qt syndrome 2"]
["KCNH2","long qt syndrome 2, acquired, susceptibility to"]
["KCNH2","long qt syndrome 2/3, digenic"]
["SCN5A","long qt syndrome 2/3, digenic"]
["KCNE1","long qt syndrome 2/5"]
["KCNH2","long qt syndrome 2/5"]
["CAV3","long qt syndrome 2/9, digenic"]
["KCNH2","long qt syndrome 2/9, digenic"]
["SCN5A","long qt syndrome 3"]
["SCN5A","long qt syndrome 3, acquired, susceptibility to"]
["KCNE2","long qt syndrome 3/6, digenic"]
["SCN5A","long qt syndrome 3/6, digenic"]
["ANK2","long qt syndrome 4"]
["KCNE1","long qt syndrome 5, acquired, susceptibility to"]
["KCNE2","long qt syndrome 6, acquired, susceptibility to"]
["CAV3","long qt syndrome 9, acquired, susceptibility to"]
["KCNH2","long qt syndrome, bradycardia-induced"]
["SCN5A","longer qt interval  association with"]
["ATM","longevity  association with"]
["CAMK4","longevity  association with"]
["PON1","longevity  association with"]
["UNG","loss of replication protein a binding"]
["CER1","low bone mineral density  association with"]
["LGR4","low bone mineral density  association with"]
["PCSK9","low density lipoprotein cholesterol level quantitative trait locus 1"]
["ABCA8","low hdl cholesterol"]
["ABCC2","low hdl cholesterol"]
["ABCG1","low hdl cholesterol"]
["CITED2","low hdl cholesterol"]
["LIPG","low hdl cholesterol"]
["LPL","low hdl cholesterol"]
["OSBPL1A","low hdl cholesterol"]
["PCSK5","low hdl cholesterol"]
["PGS1","low hdl cholesterol"]
["KCNA3","low insulin sensitivity  association with"]
["MYLIP","low ldl cholesterol"]
["PCSK9","low ldl cholesterol  association with"]
["DEFB1","low levels of candida carriage  association with"]
["TGFB3","low muscle mass  hypotonia  growth retardation  arthrogryposis & bifid uvula"]
["ABCB4","low phospholipid associated cholelithiasis"]
["F2R","low platelet receptor density  association with"]
["CYP11B2","low renin hypertension  association with"]
["ADIPOQ","low serum adiponectin level  association with"]
["SHBG","low testosterone  increased risk  assoc with"]
["OCRL","lowe oculocerebrorenal syndrome  without cataracts"]
["ADCY9","lower activity"]
["CYP3A4","lower activity"]
["UGT2B15","lower activity  association with"]
["NPR3","lower anp in obese hypertensives  association"]
["ATP6V0A1","lower blood pressure  association with"]
["PRLHR","lower blood pressure  association with"]
["SLC14A2","lower blood pressure in males  association with"]
["DGAT1","lower body mass index  association with"]
["MMP1","lower body mass index  association with"]
["MPP7","lower bone mineral density  association with"]
["STMN1","lower cortisol in response to stress in females  assoc with"]
["NPPA","lower diastolic blood pressure  association with"]
["ASMT","lower enzyme activity"]
["ESR1","lower femoral neck bmd  association with"]
["LRP5","lower femoral neck bone mineral density  association with"]
["CLCN7","lower femoral neck bone mineral density in women  association"]
["LIPC","lower hepatic lipase activity"]
["HNMT","lower hnmt level  association with"]
["ADIPOR1","lower insulin resistance  association with"]
["CALCR","lower lumbar bone mineral density  association"]
["VDR","lower lumbar bone mineral density  association with"]
["PLEKHG5","lower motor neuron disease  childhood onset"]
["ADK","lower number of permanent teeth erupted  association with"]
["HMGA2","lower number of permanent teeth erupted  association with"]
["TMEM9","lower number of permanent teeth erupted  association with"]
["TNP1","lower number of permanent teeth erupted  association with"]
["ABCB1","lower p-glycoprotein level  association with"]
["MTTP","lower plasma ldl cholesterol  association with"]
["AQP1","lower plasma sodium concentration in cirrhosis  association with"]
["TFPI","lower plasma tfpi"]
["ANGPTL4","lower plasma triglyceride level  association with"]
["LPL","lower plasma triglyceride level  association with"]
["SELPLG","lower platelet binding capacity  association with"]
["LEP","lower pulse pressure and cimt  association with"]
["IL1RL1","lower sst2 levels  association with"]
["IL1RL2","lower sst2 levels  association with"]
["MEP1A","lower sst2 levels  association with"]
["TMEM63A","lower sst2 levels  association with"]
["TERT","lower telomerase activity"]
["NPAS2","lower testosterone levels"]
["PPARA","lower total cholesterol  association with"]
["TCN2","lower total-tc concentrations"]
["LPL","lower triglyceride level  association with"]
["LPA","lp"]
["LTA","lta production  modulator"]
["UGT1A3","lucey-driscoll syndrome"]
["CILP","lumbar disc disease  association with"]
["COL9A3","lumbar disc disease  association with"]
["CILP","lumbar disc disease, susceptibility to"]
["COL11A1","lumbar disc herniation  association with"]
["LRP5","lumbar spine bone mineral density  association with"]
["LRP5","lumbar spine bone-mineral content  association with"]
["THBS2","lumbar-disc herniation  association with"]
["RAD9A","lung adenocarcinoma  association with"]
["MBD4","lung adenocarcinoma  decreased risk  association with"]
["ERCC2","lung adenocarcinoma  increased risk  association with"]
["XPA","lung adenocarcinoma  risk  association with"]
["TERT","lung adenocarcinoma  susceptibility to  association with"]
["TP63","lung adenocarcinoma  susceptibility to  association with"]
["EGFR","lung cancer"]
["PPP2R1B","lung cancer"]
["AXIN2","lung cancer  association with"]
["CASP5","lung cancer  association with"]
["EGFR","lung cancer  association with"]
["GPX1","lung cancer  association with"]
["HSPB1","lung cancer  association with"]
["MAD1","lung cancer  association with"]
["MAD2L1","lung cancer  association with"]
["NBN","lung cancer  association with"]
["TNFRSF10A","lung cancer  association with"]
["TP53","lung cancer  association with"]
["XPC","lung cancer  association with"]
["DNMT3B","lung cancer  decreased risk  association with"]
["AKR1C3","lung cancer  increased risk  association with"]
["BIRC5","lung cancer  increased risk  association with"]
["CASP9","lung cancer  increased risk  association with"]
["CHRNA3","lung cancer  increased risk  association with"]
["DNMT3B","lung cancer  increased risk  association with"]
["ERCC1","lung cancer  increased risk  association with"]
["FEN1","lung cancer  increased risk  association with"]
["GTF2H1","lung cancer  increased risk  association with"]
["HSPA1B","lung cancer  increased risk  association with"]
["IGFBP3","lung cancer  increased risk  association with"]
["NBN","lung cancer  increased risk  association with"]
["PTGS2","lung cancer  increased risk  association with"]
["RAD23B","lung cancer  increased risk  association with"]
["RASSF1","lung cancer  increased risk  association with"]
["ERBB2","lung cancer  increased risk in females  non-smokers and non-drinkers"]
["ABCB1","lung cancer  lower risk  association with"]
["BIRC5","lung cancer  lower risk  association with"]
["CASP3","lung cancer  lower risk  association with"]
["CASP9","lung cancer  lower risk  association with"]
["TNFSF8","lung cancer  lower risk  association with"]
["REV3L","lung cancer  reduced risk"]
["UGT1A6","lung cancer  reduced risk"]
["APEX1","lung cancer  reduced risk  association with"]
["CHEK2","lung cancer  reduced risk  association with"]
["XRCC4","lung cancer  reduced risk  association with"]
["ARHGEF11","lung cancer  reduced risk in mexican americans  association with"]
["KRAS","lung cancer  risk  association with"]
["MGMT","lung cancer  risk  association with"]
["MLH1","lung cancer  risk  association with"]
["CYP1A1","lung cancer  smoking induced  association with"]
["NQO1","lung cancer  smoking induced  association with"]
["ABCB1","lung cancer  suceptibility association with"]
["CD3EAP","lung cancer  survival  association with"]
["HSPA1B","lung cancer  survival  association with"]
["RNASEN","lung cancer  survival  association with"]
["OGG1","lung cancer  susceptibility  association with"]
["EGFR","lung cancer  susceptibility to"]
["ERCC3","lung cancer  susceptibility to"]
["ERCC4","lung cancer  susceptibility to"]
["ERCC5","lung cancer  susceptibility to"]
["XPC","lung cancer  susceptibility to"]
["ACCS","lung cancer  susceptibility to  association with"]
["AKAP10","lung cancer  susceptibility to  association with"]
["ATF1","lung cancer  susceptibility to  association with"]
["BARD1","lung cancer  susceptibility to  association with"]
["BAT3","lung cancer  susceptibility to  association with"]
["CAMKK1","lung cancer  susceptibility to  association with"]
["CDH12","lung cancer  susceptibility to  association with"]
["CER1","lung cancer  susceptibility to  association with"]
["CHD1L","lung cancer  susceptibility to  association with"]
["COL12A1","lung cancer  susceptibility to  association with"]
["DHX16","lung cancer  susceptibility to  association with"]
["DUSP23","lung cancer  susceptibility to  association with"]
["EPX","lung cancer  susceptibility to  association with"]
["FASN","lung cancer  susceptibility to  association with"]
["FGFRL1","lung cancer  susceptibility to  association with"]
["GH1","lung cancer  susceptibility to  association with"]
["GHR","lung cancer  susceptibility to  association with"]
["GHRH","lung cancer  susceptibility to  association with"]
["GPAM","lung cancer  susceptibility to  association with"]
["GPR68","lung cancer  susceptibility to  association with"]
["GRIK1","lung cancer  susceptibility to  association with"]
["GTF2E1","lung cancer  susceptibility to  association with"]
["GUCY2D","lung cancer  susceptibility to  association with"]
["IGFBP5","lung cancer  susceptibility to  association with"]
["IL17RB","lung cancer  susceptibility to  association with"]
["ITGA11","lung cancer  susceptibility to  association with"]
["ITGA7","lung cancer  susceptibility to  association with"]
["MS4A6A","lung cancer  susceptibility to  association with"]
["MSH4","lung cancer  susceptibility to  association with"]
["NRIP1","lung cancer  susceptibility to  association with"]
["PFAS","lung cancer  susceptibility to  association with"]
["PLCD1","lung cancer  susceptibility to  association with"]
["POP1","lung cancer  susceptibility to  association with"]
["PPAT","lung cancer  susceptibility to  association with"]
["PTPN13","lung cancer  susceptibility to  association with"]
["PYCRL","lung cancer  susceptibility to  association with"]
["SERPINI2","lung cancer  susceptibility to  association with"]
["SETDB2","lung cancer  susceptibility to  association with"]
["SFTPD","lung cancer  susceptibility to  association with"]
["SULT1E1","lung cancer  susceptibility to  association with"]
["TBX10","lung cancer  susceptibility to  association with"]
["TNC","lung cancer  susceptibility to  association with"]
["TP53BP1","lung cancer  susceptibility to  association with"]
["XRCC4","lung cancer  susceptibility to  association with"]
["ZNF600","lung cancer  susceptibility to  association with"]
["ZNF624","lung cancer  susceptibility to  association with"]
["C18orf58","lung cancer  susceptibility to in never smokers  association with"]
["CHRNA3","lung cancer susceptibility 2"]
["CHRNA5","lung cancer susceptibility 2"]
["KRAS","lung cancer, somatic"]
["SLC22A18","lung cancer, somatic"]
["KRAS","lung cancer, squamous cell, somatic"]
["ERCC6","lung cancer, susceptibility to"]
["NUDT1","lung carcinoma  risk  association with"]
["NKX2-1","lung disease  childhood"]
["ABCA3","lung disease  interstitial"]
["ABCA3","lung disease modifier association with sftpc mutation"]
["IL1B","lung disease severity  in cystic fibrosis  association with"]
["PLAUR","lung function in smokers  association with"]
["NR3C1","lupus nephritis"]
["FCGR2A","lupus nephritis  protection against  association"]
["FCGR2A","lupus nephritis, susceptibility to"]
["LHB","luteinizing hormone polymorphism"]
["LHCGR","luteinizing hormone resistance, female"]
["LHB","luteinizing hormone variant"]
["BCAM","lutheran blood group polymorphism lu"]
["TSC2","lymphangioleiomyomatosis, somatic"]
["FLT4","lymphedema, hereditary, i"]
["GJC2","lymphedema, hereditary, ic"]
["NBN","lymphoblastic leukemia, acute, susceptibility to"]
["GGT5","lymphocytic leukemia  risk  association with"]
["FLT4","lymphoedema  primary"]
["FOXC2","lymphoedema  primary"]
["GATA2","lymphoedema  primary with myelodysplasia"]
["CCBE1","lymphoedema-cholestasis syndrome"]
["MLL","lymphoma  b-cell"]
["TNFRSF13C","lymphoma  increased risk"]
["CFLAR","lymphoma  increased risk  association with"]
["IL10RA","lymphoma  reduced risk  association with"]
["PRF1","lymphoma, non-hodgkin, susceptibility to"]
["MAD1L1","lymphoma, somatic"]
["EPHX1","lymphoproliferative disorders, susceptibility to"]
["SH2D1A","lymphoproliferative syndrome  in males  association with"]
["SH2D1A","lymphoproliferative syndrome  x-linked"]
["SH2D1A","lymphoproliferative syndrome  x-linked type 1"]
["XIAP","lymphoproliferative syndrome  x-linked type 2"]
["CD27","lymphoproliferative syndrome 2"]
["ITK","lymphoproliferative syndrome, ebv-associated, autosomal, 1"]
["MSH2","lynch syndrome"]
["MSH6","lynch syndrome"]
["PMS2","lynch syndrome"]
["TERT","lynch syndrome  modifier of"]
["MSH2","lynch syndrome i"]
["MLH1","lynch syndrome ii"]
["LIPA","lysosomal acid lipase deficiency"]
["LOX","lysyl oxidase polymorphism"]
["RIN2","macrocephaly  alopecia  cutis laxa & scoliosis"]
["PTEN","macrocephaly  hypotonia & learning disabilities"]
["KIF7","macrocephaly  multiple epiphyseal dysplasia & facial features"]
["PTEN","macrocephaly  ventriculomegaly  vater association"]
["HAS1","macroglobulinaemia  waldenstrom's  association with"]
["ACTN1","macrothrombocytopaenia"]
["MYH9","macrothrombocytopenia and progressive sensorineural deafness"]
["TUBB1","macrothrombocytopenia, autosomal dominant, tubb1-related"]
["GP1BB","macrothrombocytopenia, familial, bernard-soulier type"]
["AURKC","macrozoospermia"]
["CHST6","macular corneal dystrophy  type 1"]
["CHST6","macular corneal dystrophy  type 2"]
["CHST6","macular corneal dystrophy, type ii"]
["ABCA4","macular degeneration  age related"]
["BEST1","macular degeneration  age related"]
["CFI","macular degeneration  age related"]
["FTMT","macular degeneration  age related"]
["GPR75","macular degeneration  age related"]
["HMCN1","macular degeneration  age related"]
["PON1","macular degeneration  age related"]
["RAX2","macular degeneration  age related"]
["SLC24A1","macular degeneration  age related"]
["VMD2","macular degeneration  age related"]
["CFH","macular degeneration  age related  association with"]
["SERPING1","macular degeneration  age related  association with"]
["C9","macular degeneration  age related  increased risk"]
["HTRA1","macular degeneration  age related  neovascular  association with"]
["HTRA1","macular degeneration  age related  neovascular  reduced risk"]
["C3","macular degeneration  age related  protection against"]
["CFHR2","macular degeneration  age related  protection against"]
["CFHR5","macular degeneration  age related  protection against"]
["COL4A2","macular degeneration  age related  protection against"]
["RPTOR","macular degeneration  age related  protection against"]
["TNXB","macular degeneration  age related  protection against"]
["SKIV2L","macular degeneration  age related  reduced risk"]
["ABCA4","macular degeneration  age-related  association with"]
["CFH","macular degeneration  age-related  association with"]
["ERCC6","macular degeneration  age-related  association with"]
["ARMS2","macular degeneration  age-related  in smokers  association with"]
["HTRA1","macular degeneration  association with"]
["CNGB3","macular degeneration  juvenile"]
["CFB","macular degeneration  risk  association with"]
["HMCN1","macular degeneration, age-related, 1, susceptibility to"]
["TLR4","macular degeneration, age-related, 10, susceptibility to"]
["CX3CR1","macular degeneration, age-related, 12, susceptibility to"]
["ABCA4","macular degeneration, age-related, 2, susceptibility to"]
["C3","macular degeneration, age-related, 9, susceptibility to"]
["ABCA4","macular dystrophy"]
["ABCA4","macular dystrophy  concentric annular"]
["ABCA4","macular dystrophy  early-onset"]
["RP1L1","macular dystrophy  occult"]
["IMPG1","macular dystrophy  vitelliform"]
["VMD2","macular dystrophy  vitelliform"]
["PRPH2","macular dystrophy, patterned"]
["BEST1","macular dystrophy, vitelliform, adult-onset"]
["PRPH2","macular dystrophy, vitelliform, adult-onset"]
["ABCA4","maculopathy  atypical"]
["IMPG2","maculopathy, impg2-related"]
["TRPM7","magnesium  altered sensitivity to  association with"]
["IFT172","mainzer-saldino syndrome"]
["IFT172","mainzer-saldino syndrome/asphyxiating thoracic dystrophy"]
["IFT172","mainzer-saldino syndrome/asphyxiating thoracic dystrophy/joubert syndrome"]
["HTR1A","major depression and suicide  association with"]
["CHRM2","major depression in women  association with"]
["APOE","major depressive disorder"]
["BCL9","major depressive disorder  association with"]
["CREB1","major depressive disorder  association with"]
["GMIP","major depressive disorder  association with"]
["NOS2","malaria  association with"]
["NOS2","malaria  protection against  association with"]
["BAT2","malaria  severe  association with"]
["IL1B","malaria  severity  association with"]
["CRP","malaria  susceptibility  association with"]
["IFNGR1","malaria  susceptibility  association with"]
["IL1A","malaria  susceptibility  association with"]
["ICAM1","malaria, cerebral, susceptibility to"]
["NCR3","malaria, mild, susceptibility to"]
["FCGR2B","malaria, resistance to"]
["HBB","malaria, resistance to"]
["TIRAP","malaria, resistance to"]
["FCGR2A","malaria, severe, susceptibility to"]
["SLC4A1","malarial anaemia  increased risk  association with"]
["CLEC11A","malarial anaemia  severe  protection against  association with"]
["YBX2","male factor infertility  association with"]
["BCL10","male germ cell tumor, somatic"]
["SEPT12","male infertility"]
["SEPT12","male infertility  association with"]
["CGA","male infertility  association with"]
["ETV5","male infertility  association with"]
["H2BFWT","male infertility  association with"]
["PRM1","male infertility  association with"]
["TSSK2","male infertility  association with"]
["DYNC1H1","malformations of cortical development"]
["CACNA1S","malignant hyperthermia susceptibility type 5"]
["EGF","malignant melanoma  association with"]
["MYO7A","malignant melanoma  association with"]
["SLC45A2","malignant melanoma of skin"]
["MXI1","malignant tumor of prostate"]
["KIT","malignant tumor of testis"]
["MRE11A","malignant tumor of urinary bladder"]
["TSC1","malignant tumor of urinary bladder"]
["ACSF3","malonic & methylmalonic aciduria  combined"]
["POLD1","mandibular hypoplasia  deafness and progeroid features"]
["ZMPSTE24","mandibuloacral dysplasia  early onset"]
["LMNA","mandibuloacral dysplasia with type a lipodystrophy, atypical"]
["ATP13A2","manganese toxicity  association with"]
["MBL2","mannose-binding protein deficiency"]
["MBL2","mannose-binding protein deficiency  association"]
["MAN2B1","mannosidosis  alpha"]
["MANBA","mannosidosis  beta  lysosomal"]
["ATM","mantle cell lymphoma, somatic"]
["BCKDHA","maple syrup urine disease type 1a"]
["DBT","maple syrup urine disease type 2"]
["BCKDHB","maple syrup urine disease, classic, type ib"]
["BCKDHA","maple syrup urine disease, intermediate, type ia"]
["DBT","maple syrup urine disease, thiamine-responsive, type ii"]
["DLD","maple syrup urine disease, type 3"]
["LTBP2","marfan syndrome  atypical"]
["FBN1","marfan syndrome  incomplete"]
["TGFBR2","marfan syndrome  incomplete"]
["FBN1","marfan syndrome  neonatal"]
["FBN1","marfan syndrome, atypical"]
["FBN1","marfan syndrome, autosomal recessive"]
["FBN1","marfan syndrome, mild"]
["FBN1","marfan syndrome, mild variable"]
["FBN1","marfan syndrome, severe classic"]
["FBN1","marfan syndrome, subdiagnostic variant of"]
["HR","marie unna congenital hypotrichosis"]
["SIL1","marinesco-sjgren syndrome"]
["COL11A1","marshall/stickler syndrome"]
["KIT","mast cell disease, systemic"]
["KIT","mast cell leukemia"]
["KIT","mastocytosis  diffuse cutaneous"]
["KIT","mastocytosis with associated hematologic disorder"]
["KIT","mastocytosis, adult sporadic"]
["KIT","mastocytosis, sporadic, childhood-onset"]
["HNF4A","maturity-onset diabetes of the young,  type 1"]
["GCK","maturity-onset diabetes of the young,  type 2"]
["BLK","maturity-onset diabetes of the young, type 11"]
["PDX1","maturity-onset diabetes of the young, type 4"]
["GCK","maturity-onset diabetes of the young, type ii"]
["PDX1","maturity-onset diabetes of the young, type iv"]
["HIF1A","maximal oxygen consumption  association with"]
["LHX1","mayer-rokitansky-kster-hauser syndrome"]
["MSTN","mcardle disease  modifier of  association with"]
["XK","mcleod neuroacanthocytosis syndrome"]
["FBXO7","mean cell haemoglobin  association with"]
["OR10Z1","mean cell haemoglobin concentration  association with"]
["OR6Y1","mean cell haemoglobin concentration  association with"]
["SPTA1","mean cell haemoglobin concentration  association with"]
["MARCH8","mean cell volume  association with"]
["NUDT19","mean cell volume  association with"]
["RPS6KB2","mean cell volume  association with"]
["UBXN6","mean cell volume  association with"]
["CEP290","meckel syndrome type 4"]
["RPGRIP1L","meckel syndrome type 5"]
["WDPCP","meckel syndrome, type 6, modifier of"]
["CHST5","meckel-gruber syndrome"]
["MEFV","mediterranean fever  familial"]
["MEFV","mediterranean fever  familial  association with"]
["BRCA2","medulloblastoma"]
["SUFU","medulloblastoma  desmoplastic"]
["SUFU","medulloblastoma  desmoplastic/nodular"]
["SUFU","medulloblastoma  predisposition to"]
["CTNNB1","medulloblastoma, somatic"]
["SUFU","medulloblastoma, somatic"]
["KRT12","meesman's corneal dystrophy"]
["KRT3","meesman's corneal dystrophy"]
["MLC1","megalencephalic leukoencephalopathy with subcortical cysts 1"]
["AKT3","megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome"]
["PIK3CA","megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"]
["AKT3","megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic"]
["SLC19A2","megaloblastic anaemia  thiamine responsive"]
["CUBN","megaloblastic anemia 1, finnish type"]
["AMN","megaloblastic anemia 1, norwegian type"]
["CUBN","megaloblastic anemia due to inborn errors of metabolism"]
["LTBP2","megalocornea  spherophakia & secondary glaucoma"]
["CHRDL1","megalocornea  x-linked"]
["ORC1","meier-gorlin syndrome"]
["CDT1","meier-gorlin syndrome 4"]
["SEPT12","melanoma","NULL"]
["SEPT14","melanoma","NULL"]
["A1CF","melanoma","NULL"]
["A2M","melanoma","NULL"]
["AADAC","melanoma","NULL"]
["AADACL3","melanoma","NULL"]
["ABCA1","melanoma","NULL"]
["ABCA10","melanoma","NULL"]
["ABCA12","melanoma","NULL"]
["ABCA3","melanoma","NULL"]
["ABCA4","melanoma","NULL"]
["ABCA5","melanoma","NULL"]
["ABCA6","melanoma","NULL"]
["ABCA8","melanoma","NULL"]
["ABCB4","melanoma","NULL"]
["ABCB5","melanoma","NULL"]
["ABCC11","melanoma","NULL"]
["ABCC12","melanoma","NULL"]
["ABCC3","melanoma","NULL"]
["ABCC4","melanoma","NULL"]
["ABCC6","melanoma","NULL"]
["ABCC9","melanoma","NULL"]
["ABCD2","melanoma","NULL"]
["ABCD3","melanoma","NULL"]
["ABCE1","melanoma","NULL"]
["ABCG5","melanoma","NULL"]
["ABCG8","melanoma","NULL"]
["ABHD12","melanoma","NULL"]
["ABLIM3","melanoma","NULL"]
["ABTB2","melanoma","NULL"]
["ACACB","melanoma","NULL"]
["ACADM","melanoma","NULL"]
["ACE","melanoma","NULL"]
["ACER1","melanoma","NULL"]
["ACER2","melanoma","NULL"]
["ACIN1","melanoma","NULL"]
["ACMSD","melanoma","NULL"]
["ACOT8","melanoma","NULL"]
["ACP1","melanoma","NULL"]
["ACPL2","melanoma","NULL"]
["ACSL5","melanoma","NULL"]
["ACSL6","melanoma","NULL"]
["ACSM1","melanoma","NULL"]
["ACSM2B","melanoma","NULL"]
["ACSS3","melanoma","NULL"]
["ACTN1","melanoma","NULL"]
["ACTN2","melanoma","NULL"]
["ACTR1B","melanoma","NULL"]
["ACTR3","melanoma","NULL"]
["ACTRT1","melanoma","NULL"]
["ACVR1C","melanoma","NULL"]
["ACVRL1","melanoma","NULL"]
["ACY1","melanoma","NULL"]
["ADAM10","melanoma","NULL"]
["ADAM19","melanoma","NULL"]
["ADAM2","melanoma","NULL"]
["ADAM23","melanoma","NULL"]
["ADAM28","melanoma","NULL"]
["ADAM29","melanoma","NULL"]
["ADAMDEC1","melanoma","NULL"]
["ADAMTS10","melanoma","NULL"]
["ADAMTS12","melanoma","NULL"]
["ADAMTS13","melanoma","NULL"]
["ADAMTS15","melanoma","NULL"]
["ADAMTS18","melanoma","NULL"]
["ADAMTS19","melanoma","NULL"]
["ADAMTS20","melanoma","NULL"]
["ADAMTS4","melanoma","NULL"]
["ADAMTS7","melanoma","NULL"]
["ADAMTS9","melanoma","NULL"]
["ADAMTSL3","melanoma","NULL"]
["ADAMTSL4","melanoma","NULL"]
["ADAR","melanoma","NULL"]
["ADARB1","melanoma","NULL"]
["ADAT1","melanoma","NULL"]
["ADAT3","melanoma","NULL"]
["ADCK4","melanoma","NULL"]
["ADCY1","melanoma","NULL"]
["ADCY2","melanoma","NULL"]
["ADCY7","melanoma","NULL"]
["ADCY8","melanoma","NULL"]
["ADD2","melanoma","NULL"]
["ADD3","melanoma","NULL"]
["ADH4","melanoma","NULL"]
["ADH7","melanoma","NULL"]
["ADORA3","melanoma","NULL"]
["AEBP1","melanoma","NULL"]
["AGAP1","melanoma","NULL"]
["AGAP6","melanoma","NULL"]
["AGAP7","melanoma","NULL"]
["AGGF1","melanoma","NULL"]
["AGL","melanoma","NULL"]
["AGTPBP1","melanoma","NULL"]
["AGXT2","melanoma","NULL"]
["AHCTF1","melanoma","NULL"]
["AHCY","melanoma","NULL"]
["AHNAK","melanoma","NULL"]
["AIM1","melanoma","NULL"]
["AIRE","melanoma","NULL"]
["AKAP4","melanoma","NULL"]
["AKAP6","melanoma","NULL"]
["AKAP9","melanoma","NULL"]
["AKR1B10","melanoma","NULL"]
["AKR1D1","melanoma","NULL"]
["ALB","melanoma","NULL"]
["ALDH16A1","melanoma","NULL"]
["ALDH18A1","melanoma","NULL"]
["ALDH1B1","melanoma","NULL"]
["ALDH1L1","melanoma","NULL"]
["ALDH1L2","melanoma","NULL"]
["ALDH2","melanoma","NULL"]
["ALDH8A1","melanoma","NULL"]
["ALG10","melanoma","NULL"]
["ALG10B","melanoma","NULL"]
["ALK","melanoma","NULL"]
["ALMS1","melanoma","NULL"]
["ALOX15","melanoma","NULL"]
["ALOXE3","melanoma","NULL"]
["ALPK1","melanoma","NULL"]
["ALPK2","melanoma","NULL"]
["ALPK3","melanoma","NULL"]
["ALPL","melanoma","NULL"]
["ALPPL2","melanoma","NULL"]
["ALS2","melanoma","NULL"]
["ALS2CL","melanoma","NULL"]
["ALS2CR11","melanoma","NULL"]
["AMBN","melanoma","NULL"]
["AMBP","melanoma","NULL"]
["AMDHD2","melanoma","NULL"]
["AMHR2","melanoma","NULL"]
["AMIGO2","melanoma","NULL"]
["AMPD1","melanoma","NULL"]
["AMPH","melanoma","NULL"]
["AMY2A","melanoma","NULL"]
["ANAPC4","melanoma","NULL"]
["ANGEL1","melanoma","NULL"]
["ANGPT1","melanoma","NULL"]
["ANK2","melanoma","NULL"]
["ANK3","melanoma","NULL"]
["ANKAR","melanoma","NULL"]
["ANKEF1","melanoma","NULL"]
["ANKFY1","melanoma","NULL"]
["ANKRD17","melanoma","NULL"]
["ANKRD27","melanoma","NULL"]
["ANKRD30A","melanoma","NULL"]
["ANKRD30B","melanoma","NULL"]
["ANKRD35","melanoma","NULL"]
["ANKRD42","melanoma","NULL"]
["ANKRD55","melanoma","NULL"]
["ANO4","melanoma","NULL"]
["ANPEP","melanoma","NULL"]
["ANTXR1","melanoma","NULL"]
["ANXA13","melanoma","NULL"]
["AOC3","melanoma","NULL"]
["AOX1","melanoma","NULL"]
["AP1B1","melanoma","NULL"]
["AP5S1","melanoma","NULL"]
["APBA2","melanoma","NULL"]
["APBB1","melanoma","NULL"]
["APC","melanoma","NULL"]
["APCDD1L","melanoma","NULL"]
["APOA2","melanoma","NULL"]
["APOB","melanoma","NULL"]
["APOBEC3G","melanoma","NULL"]
["ARAF","melanoma","NULL"]
["ARAP1","melanoma","NULL"]
["ARAP2","melanoma","NULL"]
["ARGFX","melanoma","NULL"]
["ARHGAP10","melanoma","NULL"]
["ARHGAP11A","melanoma","NULL"]
["ARHGAP15","melanoma","NULL"]
["ARHGAP18","melanoma","NULL"]
["ARHGAP30","melanoma","NULL"]
["ARHGAP33","melanoma","NULL"]
["ARHGAP5","melanoma","NULL"]
["ARHGEF12","melanoma","NULL"]
["ARHGEF15","melanoma","NULL"]
["ARHGEF5","melanoma","NULL"]
["ARID1A","melanoma","NULL"]
["ARID2","melanoma","NULL"]
["ARID4A","melanoma","NULL"]
["ARMC1","melanoma","NULL"]
["ARMC4","melanoma","NULL"]
["ARMC5","melanoma","NULL"]
["ARNT","melanoma","NULL"]
["ARNTL2","melanoma","NULL"]
["ARPC2","melanoma","NULL"]
["ARPP21","melanoma","NULL"]
["ARSD","melanoma","NULL"]
["ASAP3","melanoma","NULL"]
["ASB15","melanoma","NULL"]
["ASB2","melanoma","NULL"]
["ASB5","melanoma","NULL"]
["ASB7","melanoma","NULL"]
["ASCC3","melanoma","NULL"]
["ASH1L","melanoma","NULL"]
["ASIC5","melanoma","NULL"]
["ASNSD1","melanoma","NULL"]
["ASTN1","melanoma","NULL"]
["ASTN2","melanoma","NULL"]
["ASXL1","melanoma","NULL"]
["ATAD3A","melanoma","NULL"]
["ATF5","melanoma","NULL"]
["ATF6","melanoma","NULL"]
["ATG2B","melanoma","NULL"]
["ATHL1","melanoma","NULL"]
["ATIC","melanoma","NULL"]
["ATL1","melanoma","NULL"]
["ATL2","melanoma","NULL"]
["ATN1","melanoma","NULL"]
["ATP10D","melanoma","NULL"]
["ATP13A2","melanoma","NULL"]
["ATP13A5","melanoma","NULL"]
["ATP1A2","melanoma","NULL"]
["ATP1A4","melanoma","NULL"]
["ATP2A2","melanoma","NULL"]
["ATP2B2","melanoma","NULL"]
["ATP2B4","melanoma","NULL"]
["ATP2C2","melanoma","NULL"]
["ATP5S","melanoma","NULL"]
["ATP6V0A2","melanoma","NULL"]
["ATP6V1A","melanoma","NULL"]
["ATP6V1B1","melanoma","NULL"]
["ATP6V1E2","melanoma","NULL"]
["ATP7B","melanoma","NULL"]
["ATP8A1","melanoma","NULL"]
["ATP8A2","melanoma","NULL"]
["ATP8B2","melanoma","NULL"]
["ATP8B4","melanoma","NULL"]
["ATR","melanoma","NULL"]
["ATRAID","melanoma","NULL"]
["ATXN1","melanoma","NULL"]
["AXDND1","melanoma","NULL"]
["B2M","melanoma","NULL"]
["B3GALNT1","melanoma","NULL"]
["B3GALT1","melanoma","NULL"]
["B3GALT5","melanoma","NULL"]
["B3GNT6","melanoma","NULL"]
["B3GNTL1","melanoma","NULL"]
["B4GALNT3","melanoma","NULL"]
["BAAT","melanoma","NULL"]
["BACH2","melanoma","NULL"]
["BAGE2","melanoma","NULL"]
["BAI2","melanoma","NULL"]
["BANF2","melanoma","NULL"]
["BANK1","melanoma","NULL"]
["BAZ1B","melanoma","NULL"]
["BAZ2B","melanoma","NULL"]
["BBS10","melanoma","NULL"]
["BBX","melanoma","NULL"]
["BCAM","melanoma","NULL"]
["BCAS3","melanoma","NULL"]
["BCL11A","melanoma","NULL"]
["BCL9","melanoma","NULL"]
["BCR","melanoma","NULL"]
["BDP1","melanoma","NULL"]
["BEST3","melanoma","NULL"]
["BFAR","melanoma","NULL"]
["BICC1","melanoma","NULL"]
["BIN1","melanoma","NULL"]
["BLM","melanoma","NULL"]
["BLNK","melanoma","NULL"]
["BLOC1S6","melanoma","NULL"]
["BLZF1","melanoma","NULL"]
["BMP7","melanoma","NULL"]
["BMPR1B","melanoma","NULL"]
["BMPR2","melanoma","NULL"]
["BNC1","melanoma","NULL"]
["BPIFA3","melanoma","NULL"]
["BPIFB1","melanoma","NULL"]
["BPIFB2","melanoma","NULL"]
["BPIFC","melanoma","NULL"]
["BPTF","melanoma","NULL"]
["BRAF","melanoma","NULL"]
["BRAT1","melanoma","NULL"]
["BRCA2","melanoma","NULL"]
["BRF1","melanoma","NULL"]
["BRPF3","melanoma","NULL"]
["BRWD1","melanoma","NULL"]
["BSDC1","melanoma","NULL"]
["BSN","melanoma","NULL"]
["BSND","melanoma","NULL"]
["BTAF1","melanoma","NULL"]
["BTBD11","melanoma","NULL"]
["BTBD16","melanoma","NULL"]
["BTBD2","melanoma","NULL"]
["BTBD7","melanoma","NULL"]
["BTC","melanoma","NULL"]
["BTN1A1","melanoma","NULL"]
["BTN2A1","melanoma","NULL"]
["BTNL8","melanoma","NULL"]
["BUB1","melanoma","NULL"]
["C10orf12","melanoma","NULL"]
["C10orf120","melanoma","NULL"]
["C10orf35","melanoma","NULL"]
["C10orf68","melanoma","NULL"]
["C10orf90","melanoma","NULL"]
["C11orf63","melanoma","NULL"]
["C11orf70","melanoma","NULL"]
["C12orf50","melanoma","NULL"]
["C14orf166B","melanoma","NULL"]
["C15orf40","melanoma","NULL"]
["C16orf89","melanoma","NULL"]
["C16orf92","melanoma","NULL"]
["C17orf66","melanoma","NULL"]
["C17orf70","melanoma","NULL"]
["C17orf80","melanoma","NULL"]
["C18orf54","melanoma","NULL"]
["C19orf45","melanoma","NULL"]
["C19orf59","melanoma","NULL"]
["C1orf100","melanoma","NULL"]
["C1orf105","melanoma","NULL"]
["C1orf116","melanoma","NULL"]
["C1orf127","melanoma","NULL"]
["C1orf131","melanoma","NULL"]
["C1orf158","melanoma","NULL"]
["C1orf168","melanoma","NULL"]
["C1orf173","melanoma","NULL"]
["C1orf216","melanoma","NULL"]
["C1orf61","melanoma","NULL"]
["C1orf64","melanoma","NULL"]
["C1orf65","melanoma","NULL"]
["C1orf74","melanoma","NULL"]
["C1QTNF2","melanoma","NULL"]
["C1QTNF8","melanoma","NULL"]
["C1S","melanoma","NULL"]
["C2","melanoma","NULL"]
["C20orf197","melanoma","NULL"]
["C20orf24","melanoma","NULL"]
["C22orf42","melanoma","NULL"]
["C22orf43","melanoma","NULL"]
["C2CD3","melanoma","NULL"]
["C2orf16","melanoma","NULL"]
["C2orf42","melanoma","NULL"]
["C2orf70","melanoma","NULL"]
["C2orf71","melanoma","NULL"]
["C2orf80","melanoma","NULL"]
["C3","melanoma","NULL"]
["C3orf20","melanoma","NULL"]
["C3orf67","melanoma","NULL"]
["C4orf46","melanoma","NULL"]
["C5AR1","melanoma","NULL"]
["C5orf42","melanoma","NULL"]
["C6","melanoma","NULL"]
["C6orf10","melanoma","NULL"]
["C6orf106","melanoma","NULL"]
["C6orf222","melanoma","NULL"]
["C6orf58","melanoma","NULL"]
["C7","melanoma","NULL"]
["C7orf25","melanoma","NULL"]
["C7orf60","melanoma","NULL"]
["C8A","melanoma","NULL"]
["C8orf34","melanoma","NULL"]
["C8orf46","melanoma","NULL"]
["C8orf58","melanoma","NULL"]
["C9","melanoma","NULL"]
["C9orf41","melanoma","NULL"]
["CA1","melanoma","NULL"]
["CA10","melanoma","NULL"]
["CA9","melanoma","NULL"]
["CABP2","melanoma","NULL"]
["CACNA1A","melanoma","NULL"]
["CACNA1C","melanoma","NULL"]
["CACNA1D","melanoma","NULL"]
["CACNA1F","melanoma","NULL"]
["CACNA1S","melanoma","NULL"]
["CACNB2","melanoma","NULL"]
["CACNG5","melanoma","NULL"]
["CADM2","melanoma","NULL"]
["CALCR","melanoma","NULL"]
["CALHM2","melanoma","NULL"]
["CALN1","melanoma","NULL"]
["CAMKK2","melanoma","NULL"]
["CAMSAP1","melanoma","NULL"]
["CAND1","melanoma","NULL"]
["CAND2","melanoma","NULL"]
["CAPN2","melanoma","NULL"]
["CARD11","melanoma","NULL"]
["CARD16","melanoma","NULL"]
["CARD9","melanoma","NULL"]
["CASC5","melanoma","NULL"]
["CASKIN1","melanoma","NULL"]
["CASP14","melanoma","NULL"]
["CASQ2","melanoma","NULL"]
["CASR","melanoma","NULL"]
["CASS4","melanoma","NULL"]
["CATSPERG","melanoma","NULL"]
["CBFA2T2","melanoma","NULL"]
["CBLB","melanoma","NULL"]
["CBLC","melanoma","NULL"]
["CBLL1","melanoma","NULL"]
["CBX4","melanoma","NULL"]
["CCBE1","melanoma","NULL"]
["CCDC11","melanoma","NULL"]
["CCDC116","melanoma","NULL"]
["CCDC126","melanoma","NULL"]
["CCDC141","melanoma","NULL"]
["CCDC147","melanoma","NULL"]
["CCDC158","melanoma","NULL"]
["CCDC171","melanoma","NULL"]
["CCDC178","melanoma","NULL"]
["CCDC19","melanoma","NULL"]
["CCDC27","melanoma","NULL"]
["CCDC37","melanoma","NULL"]
["CCDC38","melanoma","NULL"]
["CCDC65","melanoma","NULL"]
["CCDC68","melanoma","NULL"]
["CCDC73","melanoma","NULL"]
["CCDC81","melanoma","NULL"]
["CCDC83","melanoma","NULL"]
["CCDC87","melanoma","NULL"]
["CCDC88A","melanoma","NULL"]
["CCDC88B","melanoma","NULL"]
["CCHCR1","melanoma","NULL"]
["CCIN","melanoma","NULL"]
["CCNA1","melanoma","NULL"]
["CCNF","melanoma","NULL"]
["CCSER1","melanoma","NULL"]
["CCSER2","melanoma","NULL"]
["CCT3","melanoma","NULL"]
["CD1A","melanoma","NULL"]
["CD1C","melanoma","NULL"]
["CD1D","melanoma","NULL"]
["CD1E","melanoma","NULL"]
["CD209","melanoma","NULL"]
["CD276","melanoma","NULL"]
["CD2AP","melanoma","NULL"]
["CD300E","melanoma","NULL"]
["CD84","melanoma","NULL"]
["CD86","melanoma","NULL"]
["CD8B","melanoma","NULL"]
["CD96","melanoma","NULL"]
["CDC27","melanoma","NULL"]
["CDC42BPB","melanoma","NULL"]
["CDCP1","melanoma","NULL"]
["CDCP2","melanoma","NULL"]
["CDH10","melanoma","NULL"]
["CDH11","melanoma","NULL"]
["CDH15","melanoma","NULL"]
["CDH17","melanoma","NULL"]
["CDH18","melanoma","NULL"]
["CDH22","melanoma","NULL"]
["CDH23","melanoma","NULL"]
["CDH3","melanoma","NULL"]
["CDH5","melanoma","NULL"]
["CDH7","melanoma","NULL"]
["CDH9","melanoma","NULL"]
["CDHR2","melanoma","NULL"]
["CDK11A","melanoma","NULL"]
["CDK12","melanoma","NULL"]
["CDK13","melanoma","NULL"]
["CDK20","melanoma","NULL"]
["CDK5RAP1","melanoma","NULL"]
["CDK5RAP3","melanoma","NULL"]
["CDK7","melanoma","NULL"]
["CDK8","melanoma","NULL"]
["CDKL2","melanoma","NULL"]
["CDO1","melanoma","NULL"]
["CDON","melanoma","NULL"]
["CDR2","melanoma","NULL"]
["CEACAM3","melanoma","NULL"]
["CEACAM5","melanoma","NULL"]
["CELF6","melanoma","NULL"]
["CELSR2","melanoma","NULL"]
["CELSR3","melanoma","NULL"]
["CEMP1","melanoma","NULL"]
["CENPF","melanoma","NULL"]
["CEP104","melanoma","NULL"]
["CEP128","melanoma","NULL"]
["CEP135","melanoma","NULL"]
["CEP68","melanoma","NULL"]
["CEP70","melanoma","NULL"]
["CERS3","melanoma","NULL"]
["CES1","melanoma","NULL"]
["CES5A","melanoma","NULL"]
["CETP","melanoma","NULL"]
["CFB","melanoma","NULL"]
["CFH","melanoma","NULL"]
["CFHR2","melanoma","NULL"]
["CFHR4","melanoma","NULL"]
["CFHR5","melanoma","NULL"]
["CFTR","melanoma","NULL"]
["CGNL1","melanoma","NULL"]
["CHAF1A","melanoma","NULL"]
["CHAF1B","melanoma","NULL"]
["CHD2","melanoma","NULL"]
["CHD3","melanoma","NULL"]
["CHD5","melanoma","NULL"]
["CHD6","melanoma","NULL"]
["CHEK1","melanoma","NULL"]
["CHGA","melanoma","NULL"]
["CHGB","melanoma","NULL"]
["CHIT1","melanoma","NULL"]
["CHMP2B","melanoma","NULL"]
["CHRD","melanoma","NULL"]
["CHRFAM7A","melanoma","NULL"]
["CHRM3","melanoma","NULL"]
["CHRNA1","melanoma","NULL"]
["CHRNA4","melanoma","NULL"]
["CHRNA5","melanoma","NULL"]
["CHRND","melanoma","NULL"]
["CHST1","melanoma","NULL"]
["CHST11","melanoma","NULL"]
["CHST8","melanoma","NULL"]
["CHST9","melanoma","NULL"]
["CIC","melanoma","NULL"]
["CILP","melanoma","NULL"]
["CKAP2","melanoma","NULL"]
["CKAP5","melanoma","NULL"]
["CLCA2","melanoma","NULL"]
["CLCN1","melanoma","NULL"]
["CLCN7","melanoma","NULL"]
["CLCNKB","melanoma","NULL"]
["CLEC10A","melanoma","NULL"]
["CLEC12A","melanoma","NULL"]
["CLEC4C","melanoma","NULL"]
["CLGN","melanoma","NULL"]
["CLIC5","melanoma","NULL"]
["CLIP2","melanoma","NULL"]
["CLIP3","melanoma","NULL"]
["CLN6","melanoma","NULL"]
["CLN8","melanoma","NULL"]
["CLPSL1","melanoma","NULL"]
["CLRN3","melanoma","NULL"]
["CLSPN","melanoma","NULL"]
["CLSTN2","melanoma","NULL"]
["CLVS1","melanoma","NULL"]
["CMBL","melanoma","NULL"]
["CMSS1","melanoma","NULL"]
["CNDP2","melanoma","NULL"]
["CNGA3","melanoma","NULL"]
["CNKSR3","melanoma","NULL"]
["CNR1","melanoma","NULL"]
["CNR2","melanoma","NULL"]
["CNTN1","melanoma","NULL"]
["CNTN4","melanoma","NULL"]
["CNTN6","melanoma","NULL"]
["CNTNAP2","melanoma","NULL"]
["COBL","melanoma","NULL"]
["COCH","melanoma","NULL"]
["COG5","melanoma","NULL"]
["COG6","melanoma","NULL"]
["COL11A2","melanoma","NULL"]
["COL12A1","melanoma","NULL"]
["COL14A1","melanoma","NULL"]
["COL1A1","melanoma","NULL"]
["COL1A2","melanoma","NULL"]
["COL21A1","melanoma","NULL"]
["COL22A1","melanoma","NULL"]
["COL23A1","melanoma","NULL"]
["COL24A1","melanoma","NULL"]
["COL27A1","melanoma","NULL"]
["COL28A1","melanoma","NULL"]
["COL2A1","melanoma","NULL"]
["COL4A2","melanoma","NULL"]
["COL4A4","melanoma","NULL"]
["COL5A1","melanoma","NULL"]
["COL5A3","melanoma","NULL"]
["COL6A3","melanoma","NULL"]
["COL7A1","melanoma","NULL"]
["COLEC10","melanoma","NULL"]
["COPA","melanoma","NULL"]
["COPS5","melanoma","NULL"]
["COQ7","melanoma","NULL"]
["CORIN","melanoma","NULL"]
["CORO1C","melanoma","NULL"]
["CORO2B","melanoma","NULL"]
["CPA2","melanoma","NULL"]
["CPA3","melanoma","NULL"]
["CPAMD8","melanoma","NULL"]
["CPB1","melanoma","NULL"]
["CPB2","melanoma","NULL"]
["CPD","melanoma","NULL"]
["CPE","melanoma","NULL"]
["CPEB2","melanoma","NULL"]
["CPED1","melanoma","NULL"]
["CPNE2","melanoma","NULL"]
["CPNE3","melanoma","NULL"]
["CPNE4","melanoma","NULL"]
["CPNE6","melanoma","NULL"]
["CPS1","melanoma","NULL"]
["CPSF1","melanoma","NULL"]
["CPT1A","melanoma","NULL"]
["CPXM1","melanoma","NULL"]
["CPXM2","melanoma","NULL"]
["CR2","melanoma","NULL"]
["CRB1","melanoma","NULL"]
["CREB3L1","melanoma","NULL"]
["CREB3L3","melanoma","NULL"]
["CREB5","melanoma","NULL"]
["CREBBP","melanoma","NULL"]
["CRHR2","melanoma","NULL"]
["CRIM1","melanoma","NULL"]
["CRIP3","melanoma","NULL"]
["CRISP3","melanoma","NULL"]
["CRNN","melanoma","NULL"]
["CROCC","melanoma","NULL"]
["CRP","melanoma","NULL"]
["CSF2RB","melanoma","NULL"]
["CSGALNACT2","melanoma","NULL"]
["CSH1","melanoma","NULL"]
["CSHL1","melanoma","NULL"]
["CSK","melanoma","NULL"]
["CSMD2","melanoma","NULL"]
["CSMD3","melanoma","NULL"]
["CSNK1A1","melanoma","NULL"]
["CSPG4","melanoma","NULL"]
["CSPG5","melanoma","NULL"]
["CSRNP3","melanoma","NULL"]
["CSTF2","melanoma","NULL"]
["CTC1","melanoma","NULL"]
["CTDNEP1","melanoma","NULL"]
["CTIF","melanoma","NULL"]
["CTNNA2","melanoma","NULL"]
["CTNNA3","melanoma","NULL"]
["CTNND2","melanoma","NULL"]
["CTSK","melanoma","NULL"]
["CUL9","melanoma","NULL"]
["CUX1","melanoma","NULL"]
["CUX2","melanoma","NULL"]
["CUZD1","melanoma","NULL"]
["CWH43","melanoma","NULL"]
["CYB5D1","melanoma","NULL"]
["CYB5R3","melanoma","NULL"]
["CYFIP1","melanoma","NULL"]
["CYP11B1","melanoma","NULL"]
["CYP17A1","melanoma","NULL"]
["CYP19A1","melanoma","NULL"]
["CYP26B1","melanoma","NULL"]
["CYP2A7","melanoma","NULL"]
["CYP2B6","melanoma","NULL"]
["CYP2C18","melanoma","NULL"]
["CYP2C19","melanoma","NULL"]
["CYP2C9","melanoma","NULL"]
["CYP2D6","melanoma","NULL"]
["CYP2S1","melanoma","NULL"]
["CYP3A43","melanoma","NULL"]
["CYP46A1","melanoma","NULL"]
["CYP4A11","melanoma","NULL"]
["CYP4A22","melanoma","NULL"]
["CYP4B1","melanoma","NULL"]
["CYP4F12","melanoma","NULL"]
["CYP4F2","melanoma","NULL"]
["CYP4X1","melanoma","NULL"]
["CYP4Z1","melanoma","NULL"]
["CYTIP","melanoma","NULL"]
["DAB1","melanoma","NULL"]
["DBN1","melanoma","NULL"]
["DBNL","melanoma","NULL"]
["DCAF11","melanoma","NULL"]
["DCAF12L2","melanoma","NULL"]
["DCAF4","melanoma","NULL"]
["DCAF4L1","melanoma","NULL"]
["DCAF6","melanoma","NULL"]
["DCAF8L1","melanoma","NULL"]
["DCC","melanoma","NULL"]
["DCLK1","melanoma","NULL"]
["DCLK3","melanoma","NULL"]
["DCST1","melanoma","NULL"]
["DCTN1","melanoma","NULL"]
["DDR1","melanoma","NULL"]
["DDX17","melanoma","NULL"]
["DDX39A","melanoma","NULL"]
["DDX42","melanoma","NULL"]
["DDX43","melanoma","NULL"]
["DDX52","melanoma","NULL"]
["DDX54","melanoma","NULL"]
["DEFB125","melanoma","NULL"]
["DENND2C","melanoma","NULL"]
["DENND2D","melanoma","NULL"]
["DEPDC7","melanoma","NULL"]
["DGCR2","melanoma","NULL"]
["DGKI","melanoma","NULL"]
["DHRS3","melanoma","NULL"]
["DHX29","melanoma","NULL"]
["DHX37","melanoma","NULL"]
["DHX38","melanoma","NULL"]
["DHX57","melanoma","NULL"]
["DHX9","melanoma","NULL"]
["DIAPH1","melanoma","NULL"]
["DICER1","melanoma","NULL"]
["DIDO1","melanoma","NULL"]
["DIO3","melanoma","NULL"]
["DIRAS3","melanoma","NULL"]
["DISC1","melanoma","NULL"]
["DLC1","melanoma","NULL"]
["DLEC1","melanoma","NULL"]
["DLG2","melanoma","NULL"]
["DLG3","melanoma","NULL"]
["DLGAP1","melanoma","NULL"]
["DLGAP4","melanoma","NULL"]
["DLGAP5","melanoma","NULL"]
["DLK1","melanoma","NULL"]
["DMGDH","melanoma","NULL"]
["DMKN","melanoma","NULL"]
["DMP1","melanoma","NULL"]
["DMRT3","melanoma","NULL"]
["DMRTA1","melanoma","NULL"]
["DMRTB1","melanoma","NULL"]
["DMXL2","melanoma","NULL"]
["DNAH1","melanoma","NULL"]
["DNAH10","melanoma","NULL"]
["DNAH12","melanoma","NULL"]
["DNAH2","melanoma","NULL"]
["DNAH3","melanoma","NULL"]
["DNAH5","melanoma","NULL"]
["DNAH7","melanoma","NULL"]
["DNAH9","melanoma","NULL"]
["DNAI1","melanoma","NULL"]
["DNAJC11","melanoma","NULL"]
["DNAJC16","melanoma","NULL"]
["DNAJC21","melanoma","NULL"]
["DNAJC27","melanoma","NULL"]
["DNER","melanoma","NULL"]
["DNM2","melanoma","NULL"]
["DNM3","melanoma","NULL"]
["DNMBP","melanoma","NULL"]
["DOCK5","melanoma","NULL"]
["DOK4","melanoma","NULL"]
["DOK6","melanoma","NULL"]
["DOK7","melanoma","NULL"]
["DOLPP1","melanoma","NULL"]
["DPCD","melanoma","NULL"]
["DPP10","melanoma","NULL"]
["DPP3","melanoma","NULL"]
["DPY19L2","melanoma","NULL"]
["DPYD","melanoma","NULL"]
["DRD1","melanoma","NULL"]
["DRD2","melanoma","NULL"]
["DRD3","melanoma","NULL"]
["DRD5","melanoma","NULL"]
["DSC1","melanoma","NULL"]
["DSC2","melanoma","NULL"]
["DSC3","melanoma","NULL"]
["DSCAM","melanoma","NULL"]
["DSCAML1","melanoma","NULL"]
["DSG1","melanoma","NULL"]
["DSG2","melanoma","NULL"]
["DSG3","melanoma","NULL"]
["DSP","melanoma","NULL"]
["DSTN","melanoma","NULL"]
["DTX2","melanoma","NULL"]
["DUOX1","melanoma","NULL"]
["DUOX2","melanoma","NULL"]
["DUSP11","melanoma","NULL"]
["DYNC1LI2","melanoma","NULL"]
["DYRK4","melanoma","NULL"]
["DYSF","melanoma","NULL"]
["DYX1C1","melanoma","NULL"]
["E2F7","melanoma","NULL"]
["EBF2","melanoma","NULL"]
["EBF4","melanoma","NULL"]
["ECE1","melanoma","NULL"]
["ECE2","melanoma","NULL"]
["EDAR","melanoma","NULL"]
["EDEM3","melanoma","NULL"]
["EDN1","melanoma","NULL"]
["EDN3","melanoma","NULL"]
["EEA1","melanoma","NULL"]
["EFCAB13","melanoma","NULL"]
["EFCAB3","melanoma","NULL"]
["EFCAB6","melanoma","NULL"]
["EFEMP1","melanoma","NULL"]
["EFHC1","melanoma","NULL"]
["EGF","melanoma","NULL"]
["EHD2","melanoma","NULL"]
["EHD3","melanoma","NULL"]
["EIF3C","melanoma","NULL"]
["EIF4G3","melanoma","NULL"]
["ELAVL3","melanoma","NULL"]
["ELF2","melanoma","NULL"]
["ELF5","melanoma","NULL"]
["ELOVL4","melanoma","NULL"]
["ELTD1","melanoma","NULL"]
["EMILIN2","melanoma","NULL"]
["EML1","melanoma","NULL"]
["EML4","melanoma","NULL"]
["EMR3","melanoma","NULL"]
["ENAH","melanoma","NULL"]
["ENKD1","melanoma","NULL"]
["ENOX1","melanoma","NULL"]
["ENPEP","melanoma","NULL"]
["ENPP3","melanoma","NULL"]
["ENPP4","melanoma","NULL"]
["ENTHD1","melanoma","NULL"]
["ENTPD8","melanoma","NULL"]
["EP300","melanoma","NULL"]
["EPB41L2","melanoma","NULL"]
["EPB41L4B","melanoma","NULL"]
["EPCAM","melanoma","NULL"]
["EPG5","melanoma","NULL"]
["EPHA2","melanoma","NULL"]
["EPHA3","melanoma","NULL"]
["EPHA7","melanoma","NULL"]
["EPHB1","melanoma","NULL"]
["EPHB4","melanoma","NULL"]
["EPHB6","melanoma","NULL"]
["EPHX4","melanoma","NULL"]
["EPN2","melanoma","NULL"]
["EPPK1","melanoma","NULL"]
["EPRS","melanoma","NULL"]
["EPYC","melanoma","NULL"]
["ERAL1","melanoma","NULL"]
["ERBB2","melanoma","NULL"]
["ERBB3","melanoma","NULL"]
["ERBB4","melanoma","NULL"]
["ERCC4","melanoma","NULL"]
["ERCC6","melanoma","NULL"]
["EREG","melanoma","NULL"]
["ERG","melanoma","NULL"]
["ERGIC1","melanoma","NULL"]
["ERMN","melanoma","NULL"]
["ERN2","melanoma","NULL"]
["ESPL1","melanoma","NULL"]
["ESRRB","melanoma","NULL"]
["ESYT1","melanoma","NULL"]
["ETFDH","melanoma","NULL"]
["ETV3L","melanoma","NULL"]
["ETV6","melanoma","NULL"]
["EVC","melanoma","NULL"]
["EVPL","melanoma","NULL"]
["EVX1","melanoma","NULL"]
["EXOC1","melanoma","NULL"]
["EXOC3L1","melanoma","NULL"]
["EXOC4","melanoma","NULL"]
["EXOC6","melanoma","NULL"]
["EXOC8","melanoma","NULL"]
["EXPH5","melanoma","NULL"]
["EXT2","melanoma","NULL"]
["EYA3","melanoma","NULL"]
["EYS","melanoma","NULL"]
["F11","melanoma","NULL"]
["F13A1","melanoma","NULL"]
["F13B","melanoma","NULL"]
["F5","melanoma","NULL"]
["F8","melanoma","NULL"]
["F9","melanoma","NULL"]
["FAM120B","melanoma","NULL"]
["FAM129A","melanoma","NULL"]
["FAM135B","melanoma","NULL"]
["FAM149A","melanoma","NULL"]
["FAM153A","melanoma","NULL"]
["FAM154B","melanoma","NULL"]
["FAM155A","melanoma","NULL"]
["FAM160A2","melanoma","NULL"]
["FAM170A","melanoma","NULL"]
["FAM171A1","melanoma","NULL"]
["FAM178A","melanoma","NULL"]
["FAM179B","melanoma","NULL"]
["FAM184A","melanoma","NULL"]
["FAM217B","melanoma","NULL"]
["FAM24B","melanoma","NULL"]
["FAM35A","melanoma","NULL"]
["FAM71A","melanoma","NULL"]
["FAM71B","melanoma","NULL"]
["FAM71F1","melanoma","NULL"]
["FAM73B","melanoma","NULL"]
["FAM78B","melanoma","NULL"]
["FAM81B","melanoma","NULL"]
["FAM83B","melanoma","NULL"]
["FAM86A","melanoma","NULL"]
["FAM98C","melanoma","NULL"]
["FANCE","melanoma","NULL"]
["FAR1","melanoma","NULL"]
["FARP2","melanoma","NULL"]
["FASTKD2","melanoma","NULL"]
["FAT2","melanoma","NULL"]
["FAT4","melanoma","NULL"]
["FBLIM1","melanoma","NULL"]
["FBN2","melanoma","NULL"]
["FBN3","melanoma","NULL"]
["FBXO39","melanoma","NULL"]
["FBXO7","melanoma","NULL"]
["FBXW7","melanoma","NULL"]
["FCAR","melanoma","NULL"]
["FCGBP","melanoma","NULL"]
["FCGR3A","melanoma","NULL"]
["FCRL1","melanoma","NULL"]
["FCRL4","melanoma","NULL"]
["FCRL6","melanoma","NULL"]
["FDX1L","melanoma","NULL"]
["FER1L6","melanoma","NULL"]
["FERMT1","melanoma","NULL"]
["FGF12","melanoma","NULL"]
["FGF3","melanoma","NULL"]
["FGFR3","melanoma","NULL"]
["FGG","melanoma","NULL"]
["FGR","melanoma","NULL"]
["FH","melanoma","NULL"]
["FHAD1","melanoma","NULL"]
["FHOD3","melanoma","NULL"]
["FIGN","melanoma","NULL"]
["FILIP1","melanoma","NULL"]
["FITM2","melanoma","NULL"]
["FKBPL","melanoma","NULL"]
["FLAD1","melanoma","NULL"]
["FLCN","melanoma","NULL"]
["FLG","melanoma","NULL"]
["FLG2","melanoma","NULL"]
["FLII","melanoma","NULL"]
["FLNB","melanoma","NULL"]
["FLNC","melanoma","NULL"]
["FLT1","melanoma","NULL"]
["FLT3","melanoma","NULL"]
["FLT4","melanoma","NULL"]
["FMN1","melanoma","NULL"]
["FMN2","melanoma","NULL"]
["FMO1","melanoma","NULL"]
["FMO2","melanoma","NULL"]
["FMO3","melanoma","NULL"]
["FNDC7","melanoma","NULL"]
["FOLH1","melanoma","NULL"]
["FOLH1B","melanoma","NULL"]
["FOLR4","melanoma","NULL"]
["FOXB2","melanoma","NULL"]
["FOXD4","melanoma","NULL"]
["FOXK1","melanoma","NULL"]
["FOXK2","melanoma","NULL"]
["FOXL1","melanoma","NULL"]
["FOXN3","melanoma","NULL"]
["FOXP2","melanoma","NULL"]
["FOXR1","melanoma","NULL"]
["FPR1","melanoma","NULL"]
["FPR3","melanoma","NULL"]
["FRAS1","melanoma","NULL"]
["FREM2","melanoma","NULL"]
["FRG1","melanoma","NULL"]
["FRG2B","melanoma","NULL"]
["FRMD4A","melanoma","NULL"]
["FRMD7","melanoma","NULL"]
["FRMPD1","melanoma","NULL"]
["FRMPD2","melanoma","NULL"]
["FRY","melanoma","NULL"]
["FSD1","melanoma","NULL"]
["FSHR","melanoma","NULL"]
["FSIP1","melanoma","NULL"]
["FSTL4","melanoma","NULL"]
["FTCD","melanoma","NULL"]
["FUT3","melanoma","NULL"]
["FUT4","melanoma","NULL"]
["FUT9","melanoma","NULL"]
["G3BP1","melanoma","NULL"]
["G6PC","melanoma","NULL"]
["G6PC3","melanoma","NULL"]
["GAB1","melanoma","NULL"]
["GABBR1","melanoma","NULL"]
["GABBR2","melanoma","NULL"]
["GABRA2","melanoma","NULL"]
["GABRA6","melanoma","NULL"]
["GABRD","melanoma","NULL"]
["GABRG2","melanoma","NULL"]
["GABRP","melanoma","NULL"]
["GAD2","melanoma","NULL"]
["GAK","melanoma","NULL"]
["GALNT10","melanoma","NULL"]
["GALNT13","melanoma","NULL"]
["GALNT5","melanoma","NULL"]
["GALNT8","melanoma","NULL"]
["GALNTL6","melanoma","NULL"]
["GANAB","melanoma","NULL"]
["GAREM","melanoma","NULL"]
["GAS2","melanoma","NULL"]
["GBA","melanoma","NULL"]
["GBA2","melanoma","NULL"]
["GBA3","melanoma","NULL"]
["GBE1","melanoma","NULL"]
["GBP1","melanoma","NULL"]
["GBP5","melanoma","NULL"]
["GBP7","melanoma","NULL"]
["GCH1","melanoma","NULL"]
["GCK","melanoma","NULL"]
["GCSAML","melanoma","NULL"]
["GDF2","melanoma","NULL"]
["GDF3","melanoma","NULL"]
["GDF9","melanoma","NULL"]
["GDPD4","melanoma","NULL"]
["GEN1","melanoma","NULL"]
["GFOD2","melanoma","NULL"]
["GFPT1","melanoma","NULL"]
["GFPT2","melanoma","NULL"]
["GGT1","melanoma","NULL"]
["GGT5","melanoma","NULL"]
["GGT6","melanoma","NULL"]
["GHR","melanoma","NULL"]
["GID4","melanoma","NULL"]
["GIMAP2","melanoma","NULL"]
["GIMAP6","melanoma","NULL"]
["GIMAP7","melanoma","NULL"]
["GIMAP8","melanoma","NULL"]
["GIN1","melanoma","NULL"]
["GINS4","melanoma","NULL"]
["GIP","melanoma","NULL"]
["GIPR","melanoma","NULL"]
["GJA8","melanoma","NULL"]
["GJD4","melanoma","NULL"]
["GK2","melanoma","NULL"]
["GKN1","melanoma","NULL"]
["GLI1","melanoma","NULL"]
["GLIPR1","melanoma","NULL"]
["GLIPR2","melanoma","NULL"]
["GLIS1","melanoma","NULL"]
["GLMN","melanoma","NULL"]
["GLRB","melanoma","NULL"]
["GLT8D2","melanoma","NULL"]
["GLYATL1","melanoma","NULL"]
["GLYATL2","melanoma","NULL"]
["GMFG","melanoma","NULL"]
["GNA15","melanoma","NULL"]
["GNAI1","melanoma","NULL"]
["GNAI2","melanoma","NULL"]
["GNPTAB","melanoma","NULL"]
["GOLGA3","melanoma","NULL"]
["GOLGA5","melanoma","NULL"]
["GOLIM4","melanoma","NULL"]
["GOSR2","melanoma","NULL"]
["GOT2","melanoma","NULL"]
["GP5","melanoma","NULL"]
["GPATCH1","melanoma","NULL"]
["GPATCH2L","melanoma","NULL"]
["GPATCH8","melanoma","NULL"]
["GPC3","melanoma","NULL"]
["GPC5","melanoma","NULL"]
["GPR101","melanoma","NULL"]
["GPR112","melanoma","NULL"]
["GPR115","melanoma","NULL"]
["GPR116","melanoma","NULL"]
["GPR125","melanoma","NULL"]
["GPR128","melanoma","NULL"]
["GPR133","melanoma","NULL"]
["GPR142","melanoma","NULL"]
["GPR148","melanoma","NULL"]
["GPR152","melanoma","NULL"]
["GPR156","melanoma","NULL"]
["GPR158","melanoma","NULL"]
["GPR176","melanoma","NULL"]
["GPR26","melanoma","NULL"]
["GPR32","melanoma","NULL"]
["GPR35","melanoma","NULL"]
["GPR50","melanoma","NULL"]
["GPR83","melanoma","NULL"]
["GPRC5B","melanoma","NULL"]
["GPRC5D","melanoma","NULL"]
["GPRC6A","melanoma","NULL"]
["GPT2","melanoma","NULL"]
["GPX5","melanoma","NULL"]
["GPX6","melanoma","NULL"]
["GRAMD1C","melanoma","NULL"]
["GRASP","melanoma","NULL"]
["GRB7","melanoma","NULL"]
["GREB1","melanoma","NULL"]
["GRHL1","melanoma","NULL"]
["GRIA1","melanoma","NULL"]
["GRIA4","melanoma","NULL"]
["GRID2","melanoma","NULL"]
["GRIK1","melanoma","NULL"]
["GRIK2","melanoma","NULL"]
["GRIK3","melanoma","NULL"]
["GRIN1","melanoma","NULL"]
["GRIN2A","melanoma","NULL"]
["GRIN2B","melanoma","NULL"]
["GRIN3A","melanoma","NULL"]
["GRM1","melanoma","NULL"]
["GRM3","melanoma","NULL"]
["GRM8","melanoma","NULL"]
["GRN","melanoma","NULL"]
["GSDMC","melanoma","NULL"]
["GSG1","melanoma","NULL"]
["GTF3C1","melanoma","NULL"]
["GTF3C2","melanoma","NULL"]
["GTPBP2","melanoma","NULL"]
["GTPBP3","melanoma","NULL"]
["GUCA1B","melanoma","NULL"]
["GUCY2C","melanoma","NULL"]
["GYPB","melanoma","NULL"]
["GYS2","melanoma","NULL"]
["GZMA","melanoma","NULL"]
["H1FOO","melanoma","NULL"]
["H2AFY2","melanoma","NULL"]
["HABP2","melanoma","NULL"]
["HAL","melanoma","NULL"]
["HAND2","melanoma","NULL"]
["HAO2","melanoma","NULL"]
["HAPLN1","melanoma","NULL"]
["HARS","melanoma","NULL"]
["HAS1","melanoma","NULL"]
["HAVCR1","melanoma","NULL"]
["HBG2","melanoma","NULL"]
["HBP1","melanoma","NULL"]
["HBS1L","melanoma","NULL"]
["HCAR3","melanoma","NULL"]
["HDC","melanoma","NULL"]
["HEATR1","melanoma","NULL"]
["HEATR2","melanoma","NULL"]
["HEATR3","melanoma","NULL"]
["HEATR5B","melanoma","NULL"]
["HEMGN","melanoma","NULL"]
["HENMT1","melanoma","NULL"]
["HERC2","melanoma","NULL"]
["HEXDC","melanoma","NULL"]
["HHIP","melanoma","NULL"]
["HHIPL1","melanoma","NULL"]
["HIC2","melanoma","NULL"]
["HIF3A","melanoma","NULL"]
["HIPK3","melanoma","NULL"]
["HIST1H1C","melanoma","NULL"]
["HIST1H1D","melanoma","NULL"]
["HIST1H2AE","melanoma","NULL"]
["HIST2H2AC","melanoma","NULL"]
["HIST3H2BB","melanoma","NULL"]
["HIVEP1","melanoma","NULL"]
["HIVEP2","melanoma","NULL"]
["HK3","melanoma","NULL"]
["HLA-C","melanoma","NULL"]
["HLA-DOB","melanoma","NULL"]
["HLA-DPA1","melanoma","NULL"]
["HLA-DRA","melanoma","NULL"]
["HMCN1","melanoma","NULL"]
["HMGCLL1","melanoma","NULL"]
["HMGXB4","melanoma","NULL"]
["HNRNPA1","melanoma","NULL"]
["HNRNPA2B1","melanoma","NULL"]
["HNRNPR","melanoma","NULL"]
["HNRNPUL1","melanoma","NULL"]
["HOOK2","melanoma","NULL"]
["HOXA2","melanoma","NULL"]
["HOXC9","melanoma","NULL"]
["HPS1","melanoma","NULL"]
["HPS5","melanoma","NULL"]
["HRG","melanoma","NULL"]
["HRNR","melanoma","NULL"]
["HSF2BP","melanoma","NULL"]
["HSF5","melanoma","NULL"]
["HSPA1L","melanoma","NULL"]
["HSPA5","melanoma","NULL"]
["HSPB8","melanoma","NULL"]
["HSPG2","melanoma","NULL"]
["HTN1","melanoma","NULL"]
["HTN3","melanoma","NULL"]
["HTR1E","melanoma","NULL"]
["HTR2A","melanoma","NULL"]
["HTR3E","melanoma","NULL"]
["HTR4","melanoma","NULL"]
["HTT","melanoma","NULL"]
["HUNK","melanoma","NULL"]
["HVCN1","melanoma","NULL"]
["HYAL4","melanoma","NULL"]
["HYDIN","melanoma","NULL"]
["IARS2","melanoma","NULL"]
["ICA1","melanoma","NULL"]
["IDH1","melanoma","NULL"]
["IFIT2","melanoma","NULL"]
["IFNA16","melanoma","NULL"]
["IFNA21","melanoma","NULL"]
["IFNA4","melanoma","NULL"]
["IFNAR1","melanoma","NULL"]
["IFNL2","melanoma","NULL"]
["IFT122","melanoma","NULL"]
["IFT140","melanoma","NULL"]
["IFT74","melanoma","NULL"]
["IGDCC4","melanoma","NULL"]
["IGF2BP3","melanoma","NULL"]
["IGHMBP2","melanoma","NULL"]
["IGSF10","melanoma","NULL"]
["IGSF21","melanoma","NULL"]
["IKZF3","melanoma","NULL"]
["IL11RA","melanoma","NULL"]
["IL13","melanoma","NULL"]
["IL17RA","melanoma","NULL"]
["IL18RAP","melanoma","NULL"]
["IL1R1","melanoma","NULL"]
["IL1RL1","melanoma","NULL"]
["IL1RN","melanoma","NULL"]
["IL2","melanoma","NULL"]
["IL20RA","melanoma","NULL"]
["IL22RA1","melanoma","NULL"]
["IL2RA","melanoma","NULL"]
["IL32","melanoma","NULL"]
["IL34","melanoma","NULL"]
["IL36A","melanoma","NULL"]
["IL36B","melanoma","NULL"]
["IL36RN","melanoma","NULL"]
["IL37","melanoma","NULL"]
["IL7R","melanoma","NULL"]
["ILDR1","melanoma","NULL"]
["IMMP2L","melanoma","NULL"]
["IMPDH1","melanoma","NULL"]
["IMPG1","melanoma","NULL"]
["INADL","melanoma","NULL"]
["INHBB","melanoma","NULL"]
["INO80","melanoma","NULL"]
["INO80E","melanoma","NULL"]
["INPP5A","melanoma","NULL"]
["INSC","melanoma","NULL"]
["INSR","melanoma","NULL"]
["IP6K3","melanoma","NULL"]
["IPO11","melanoma","NULL"]
["IPO5","melanoma","NULL"]
["IQCH","melanoma","NULL"]
["IQGAP1","melanoma","NULL"]
["IQGAP2","melanoma","NULL"]
["IQGAP3","melanoma","NULL"]
["IQSEC3","melanoma","NULL"]
["IRAK2","melanoma","NULL"]
["IRGC","melanoma","NULL"]
["IRS4","melanoma","NULL"]
["ISLR","melanoma","NULL"]
["ISM2","melanoma","NULL"]
["ITGA1","melanoma","NULL"]
["ITGA3","melanoma","NULL"]
["ITGA7","melanoma","NULL"]
["ITGA9","melanoma","NULL"]
["ITGAV","melanoma","NULL"]
["ITGB5","melanoma","NULL"]
["ITGB7","melanoma","NULL"]
["ITGB8","melanoma","NULL"]
["ITIH2","melanoma","NULL"]
["ITIH6","melanoma","NULL"]
["ITK","melanoma","NULL"]
["ITLN1","melanoma","NULL"]
["ITPR2","melanoma","NULL"]
["ITPR3","melanoma","NULL"]
["ITPRIPL2","melanoma","NULL"]
["ITSN1","melanoma","NULL"]
["JAKMIP1","melanoma","NULL"]
["JMJD6","melanoma","NULL"]
["JPH2","melanoma","NULL"]
["KALRN","melanoma","NULL"]
["KANK4","melanoma","NULL"]
["KANSL1","melanoma","NULL"]
["KAT2A","melanoma","NULL"]
["KAT6A","melanoma","NULL"]
["KAT6B","melanoma","NULL"]
["KATNAL2","melanoma","NULL"]
["KCNA1","melanoma","NULL"]
["KCNA6","melanoma","NULL"]
["KCNAB1","melanoma","NULL"]
["KCNB1","melanoma","NULL"]
["KCNB2","melanoma","NULL"]
["KCND2","melanoma","NULL"]
["KCNH2","melanoma","NULL"]
["KCNH5","melanoma","NULL"]
["KCNH6","melanoma","NULL"]
["KCNH7","melanoma","NULL"]
["KCNIP1","melanoma","NULL"]
["KCNIP4","melanoma","NULL"]
["KCNJ12","melanoma","NULL"]
["KCNJ14","melanoma","NULL"]
["KCNJ15","melanoma","NULL"]
["KCNJ5","melanoma","NULL"]
["KCNJ6","melanoma","NULL"]
["KCNJ9","melanoma","NULL"]
["KCNK10","melanoma","NULL"]
["KCNK13","melanoma","NULL"]
["KCNK16","melanoma","NULL"]
["KCNK17","melanoma","NULL"]
["KCNK5","melanoma","NULL"]
["KCNQ3","melanoma","NULL"]
["KCNQ5","melanoma","NULL"]
["KCNS3","melanoma","NULL"]
["KCTD16","melanoma","NULL"]
["KCTD19","melanoma","NULL"]
["KCTD6","melanoma","NULL"]
["KDM1B","melanoma","NULL"]
["KDM2B","melanoma","NULL"]
["KDM3A","melanoma","NULL"]
["KDM3B","melanoma","NULL"]
["KDM4A","melanoma","NULL"]
["KDM4B","melanoma","NULL"]
["KDM4C","melanoma","NULL"]
["KDM5A","melanoma","NULL"]
["KDM5B","melanoma","NULL"]
["KDR","melanoma","NULL"]
["KDSR","melanoma","NULL"]
["KERA","melanoma","NULL"]
["KHDC1L","melanoma","NULL"]
["KHDC3L","melanoma","NULL"]
["KHDRBS2","melanoma","NULL"]
["KIAA0319","melanoma","NULL"]
["KIAA0319L","melanoma","NULL"]
["KIAA1109","melanoma","NULL"]
["KIAA1199","melanoma","NULL"]
["KIAA1324","melanoma","NULL"]
["KIAA1324L","melanoma","NULL"]
["KIAA1715","melanoma","NULL"]
["KIF11","melanoma","NULL"]
["KIF14","melanoma","NULL"]
["KIF16B","melanoma","NULL"]
["KIF17","melanoma","NULL"]
["KIF20B","melanoma","NULL"]
["KIF21A","melanoma","NULL"]
["KIF27","melanoma","NULL"]
["KIF2B","melanoma","NULL"]
["KIF3C","melanoma","NULL"]
["KIF4B","melanoma","NULL"]
["KIF5A","melanoma","NULL"]
["KIF9","melanoma","NULL"]
["KIFAP3","melanoma","NULL"]
["KIR3DL1","melanoma","NULL"]
["KIR3DL2","melanoma","NULL"]
["KL","melanoma","NULL"]
["KLC4","melanoma","NULL"]
["KLF17","melanoma","NULL"]
["KLHDC8A","melanoma","NULL"]
["KLHL13","melanoma","NULL"]
["KLHL21","melanoma","NULL"]
["KLHL32","melanoma","NULL"]
["KLHL36","melanoma","NULL"]
["KLRC3","melanoma","NULL"]
["KNG1","melanoma","NULL"]
["KNSTRN","melanoma","NULL"]
["KPNA5","melanoma","NULL"]
["KPNB1","melanoma","NULL"]
["KRT1","melanoma","NULL"]
["KRT13","melanoma","NULL"]
["KRT15","melanoma","NULL"]
["KRT16","melanoma","NULL"]
["KRT18","melanoma","NULL"]
["KRT20","melanoma","NULL"]
["KRT222","melanoma","NULL"]
["KRT35","melanoma","NULL"]
["KRT37","melanoma","NULL"]
["KRT38","melanoma","NULL"]
["KRT4","melanoma","NULL"]
["KRT6A","melanoma","NULL"]
["KRT71","melanoma","NULL"]
["KRT73","melanoma","NULL"]
["KRT74","melanoma","NULL"]
["KRT76","melanoma","NULL"]
["KRT79","melanoma","NULL"]
["KRT8","melanoma","NULL"]
["KRT82","melanoma","NULL"]
["KRT83","melanoma","NULL"]
["KRT84","melanoma","NULL"]
["KRTAP5-1","melanoma","NULL"]
["KRTAP5-10","melanoma","NULL"]
["KRTAP5-5","melanoma","NULL"]
["KY","melanoma","NULL"]
["KYNU","melanoma","NULL"]
["L1TD1","melanoma","NULL"]
["L3HYPDH","melanoma","NULL"]
["L3MBTL3","melanoma","NULL"]
["L3MBTL4","melanoma","NULL"]
["LAMA1","melanoma","NULL"]
["LAMA2","melanoma","NULL"]
["LAMA3","melanoma","NULL"]
["LAMA5","melanoma","NULL"]
["LAMB1","melanoma","NULL"]
["LAMB3","melanoma","NULL"]
["LAMB4","melanoma","NULL"]
["LAMC2","melanoma","NULL"]
["LAMP5","melanoma","NULL"]
["LAMTOR2","melanoma","NULL"]
["LANCL2","melanoma","NULL"]
["LAPTM4B","melanoma","NULL"]
["LARGE","melanoma","NULL"]
["LARP1","melanoma","NULL"]
["LBR","melanoma","NULL"]
["LCE1A","melanoma","NULL"]
["LCE2B","melanoma","NULL"]
["LCT","melanoma","NULL"]
["LDLR","melanoma","NULL"]
["LDLRAD1","melanoma","NULL"]
["LELP1","melanoma","NULL"]
["LEPR","melanoma","NULL"]
["LEPREL2","melanoma","NULL"]
["LGALS14","melanoma","NULL"]
["LGALS2","melanoma","NULL"]
["LGALS4","melanoma","NULL"]
["LGALS9B","melanoma","NULL"]
["LGI1","melanoma","NULL"]
["LGMN","melanoma","NULL"]
["LGR5","melanoma","NULL"]
["LGR6","melanoma","NULL"]
["LGSN","melanoma","NULL"]
["LHFPL4","melanoma","NULL"]
["LHFPL5","melanoma","NULL"]
["LHX1","melanoma","NULL"]
["LHX8","melanoma","NULL"]
["LIG3","melanoma","NULL"]
["LILRA3","melanoma","NULL"]
["LILRA6","melanoma","NULL"]
["LILRB1","melanoma","NULL"]
["LILRB2","melanoma","NULL"]
["LILRB3","melanoma","NULL"]
["LIMCH1","melanoma","NULL"]
["LIN7A","melanoma","NULL"]
["LINS","melanoma","NULL"]
["LIPG","melanoma","NULL"]
["LLGL1","melanoma","NULL"]
["LMAN1","melanoma","NULL"]
["LMLN","melanoma","NULL"]
["LMO7","melanoma","NULL"]
["LONRF2","melanoma","NULL"]
["LOXL4","melanoma","NULL"]
["LPA","melanoma","NULL"]
["LPAR5","melanoma","NULL"]
["LPGAT1","melanoma","NULL"]
["LPIN1","melanoma","NULL"]
["LRBA","melanoma","NULL"]
["LRFN2","melanoma","NULL"]
["LRIF1","melanoma","NULL"]
["LRIG1","melanoma","NULL"]
["LRMP","melanoma","NULL"]
["LRP1","melanoma","NULL"]
["LRP1B","melanoma","NULL"]
["LRP2","melanoma","NULL"]
["LRP4","melanoma","NULL"]
["LRP5","melanoma","NULL"]
["LRP6","melanoma","NULL"]
["LRPPRC","melanoma","NULL"]
["LRRC31","melanoma","NULL"]
["LRRC37A3","melanoma","NULL"]
["LRRC3B","melanoma","NULL"]
["LRRC4B","melanoma","NULL"]
["LRRC56","melanoma","NULL"]
["LRRC66","melanoma","NULL"]
["LRRIQ1","melanoma","NULL"]
["LRRTM1","melanoma","NULL"]
["LRWD1","melanoma","NULL"]
["LSM14A","melanoma","NULL"]
["LTBP1","melanoma","NULL"]
["LTBP2","melanoma","NULL"]
["LTN1","melanoma","NULL"]
["LUZP2","melanoma","NULL"]
["LYPLA2","melanoma","NULL"]
["LYRM9","melanoma","NULL"]
["LYVE1","melanoma","NULL"]
["MAB21L3","melanoma","NULL"]
["MACC1","melanoma","NULL"]
["MACF1","melanoma","NULL"]
["MADD","melanoma","NULL"]
["MAG","melanoma","NULL"]
["MAGEA12","melanoma","NULL"]
["MAGEB16","melanoma","NULL"]
["MAGEB18","melanoma","NULL"]
["MAGEC1","melanoma","NULL"]
["MAGEE2","melanoma","NULL"]
["MAGEH1","melanoma","NULL"]
["MAGI1","melanoma","NULL"]
["MAGI2","melanoma","NULL"]
["MAK","melanoma","NULL"]
["MALL","melanoma","NULL"]
["MAN1C1","melanoma","NULL"]
["MAP1A","melanoma","NULL"]
["MAP2","melanoma","NULL"]
["MAP3K11","melanoma","NULL"]
["MAP3K12","melanoma","NULL"]
["MAP3K5","melanoma","NULL"]
["MAP7D3","melanoma","NULL"]
["MAPK1","melanoma","NULL"]
["MAPK4","melanoma","NULL"]
["MAPK8IP1","melanoma","NULL"]
["MAPKBP1","melanoma","NULL"]
["MARCO","melanoma","NULL"]
["MARK1","melanoma","NULL"]
["MARS2","melanoma","NULL"]
["MASP1","melanoma","NULL"]
["MASP2","melanoma","NULL"]
["MBD3","melanoma","NULL"]
["MBD5","melanoma","NULL"]
["MC2R","melanoma","NULL"]
["MC5R","melanoma","NULL"]
["MCCC1","melanoma","NULL"]
["MCHR2","melanoma","NULL"]
["MCPH1","melanoma","NULL"]
["MCTP2","melanoma","NULL"]
["MDC1","melanoma","NULL"]
["MDM1","melanoma","NULL"]
["MDN1","melanoma","NULL"]
["MEA1","melanoma","NULL"]
["MECOM","melanoma","NULL"]
["MED1","melanoma","NULL"]
["MED12L","melanoma","NULL"]
["MED13L","melanoma","NULL"]
["MED15","melanoma","NULL"]
["MEFV","melanoma","NULL"]
["MEMO1","melanoma","NULL"]
["MEPE","melanoma","NULL"]
["MERTK","melanoma","NULL"]
["MET","melanoma","NULL"]
["METTL17","melanoma","NULL"]
["METTL2B","melanoma","NULL"]
["METTL3","melanoma","NULL"]
["MFSD4","melanoma","NULL"]
["MFSD5","melanoma","NULL"]
["MFSD6L","melanoma","NULL"]
["MGARP","melanoma","NULL"]
["MGAT4A","melanoma","NULL"]
["MGAT5","melanoma","NULL"]
["MGAT5B","melanoma","NULL"]
["MICALCL","melanoma","NULL"]
["MIER1","melanoma","NULL"]
["MIP","melanoma","NULL"]
["MKI67","melanoma","NULL"]
["MLIP","melanoma","NULL"]
["MMP1","melanoma","NULL"]
["MMP11","melanoma","NULL"]
["MMP13","melanoma","NULL"]
["MMP16","melanoma","NULL"]
["MMP19","melanoma","NULL"]
["MMP27","melanoma","NULL"]
["MN1","melanoma","NULL"]
["MNDA","melanoma","NULL"]
["MNT","melanoma","NULL"]
["MOAP1","melanoma","NULL"]
["MOCOS","melanoma","NULL"]
["MOCS3","melanoma","NULL"]
["MORC1","melanoma","NULL"]
["MOV10","melanoma","NULL"]
["MOV10L1","melanoma","NULL"]
["MPEG1","melanoma","NULL"]
["MPHOSPH10","melanoma","NULL"]
["MPP3","melanoma","NULL"]
["MPZL2","melanoma","NULL"]
["MR1","melanoma","NULL"]
["MRAP2","melanoma","NULL"]
["MRGPRX4","melanoma","NULL"]
["MROH7","melanoma","NULL"]
["MRPS22","melanoma","NULL"]
["MRPS34","melanoma","NULL"]
["MRRF","melanoma","NULL"]
["MS4A10","melanoma","NULL"]
["MS4A3","melanoma","NULL"]
["MSRB3","melanoma","NULL"]
["MST1","melanoma","NULL"]
["MST1R","melanoma","NULL"]
["MTFR2","melanoma","NULL"]
["MTG1","melanoma","NULL"]
["MTHFD1L","melanoma","NULL"]
["MTIF3","melanoma","NULL"]
["MTMR14","melanoma","NULL"]
["MTMR3","melanoma","NULL"]
["MTMR6","melanoma","NULL"]
["MTMR7","melanoma","NULL"]
["MTNR1A","melanoma","NULL"]
["MTO1","melanoma","NULL"]
["MTOR","melanoma","NULL"]
["MTRF1","melanoma","NULL"]
["MTX1","melanoma","NULL"]
["MUC1","melanoma","NULL"]
["MUC16","melanoma","NULL"]
["MUC17","melanoma","NULL"]
["MUC21","melanoma","NULL"]
["MUC4","melanoma","NULL"]
["MUC6","melanoma","NULL"]
["MUC7","melanoma","NULL"]
["MVP","melanoma","NULL"]
["MXRA5","melanoma","NULL"]
["MYBPC1","melanoma","NULL"]
["MYCBP2","melanoma","NULL"]
["MYCBPAP","melanoma","NULL"]
["MYH1","melanoma","NULL"]
["MYH11","melanoma","NULL"]
["MYH13","melanoma","NULL"]
["MYH2","melanoma","NULL"]
["MYH4","melanoma","NULL"]
["MYH6","melanoma","NULL"]
["MYH7","melanoma","NULL"]
["MYH8","melanoma","NULL"]
["MYH9","melanoma","NULL"]
["MYLK","melanoma","NULL"]
["MYLK3","melanoma","NULL"]
["MYNN","melanoma","NULL"]
["MYO15A","melanoma","NULL"]
["MYO1A","melanoma","NULL"]
["MYO1F","melanoma","NULL"]
["MYO3A","melanoma","NULL"]
["MYO5B","melanoma","NULL"]
["MYO5C","melanoma","NULL"]
["MYOCD","melanoma","NULL"]
["MYOM2","melanoma","NULL"]
["MYOM3","melanoma","NULL"]
["MYOZ3","melanoma","NULL"]
["MYPN","melanoma","NULL"]
["N/A","melanoma","NULL"]
["NAA15","melanoma","NULL"]
["NAA30","melanoma","NULL"]
["NAA35","melanoma","NULL"]
["NAAA","melanoma","NULL"]
["NAALAD2","melanoma","NULL"]
["NAB1","melanoma","NULL"]
["NAIP","melanoma","NULL"]
["NALCN","melanoma","NULL"]
["NANS","melanoma","NULL"]
["NAP1L1","melanoma","NULL"]
["NAPEPLD","melanoma","NULL"]
["NAV2","melanoma","NULL"]
["NAV3","melanoma","NULL"]
["NBAS","melanoma","NULL"]
["NBEAL1","melanoma","NULL"]
["NBPF7","melanoma","NULL"]
["NCAPH","melanoma","NULL"]
["NCAPH2","melanoma","NULL"]
["NCF1","melanoma","NULL"]
["NCKAP1","melanoma","NULL"]
["NCKAP1L","melanoma","NULL"]
["NCOA1","melanoma","NULL"]
["NCOR2","melanoma","NULL"]
["NCR3","melanoma","NULL"]
["NCSTN","melanoma","NULL"]
["NDRG4","melanoma","NULL"]
["NDST1","melanoma","NULL"]
["NDST4","melanoma","NULL"]
["NDUFB5","melanoma","NULL"]
["NDUFS2","melanoma","NULL"]
["NDUFS8","melanoma","NULL"]
["NDUFV1","melanoma","NULL"]
["NEB","melanoma","NULL"]
["NEDD4","melanoma","NULL"]
["NEK3","melanoma","NULL"]
["NEK7","melanoma","NULL"]
["NELFA","melanoma","NULL"]
["NELL1","melanoma","NULL"]
["NELL2","melanoma","NULL"]
["NETO1","melanoma","NULL"]
["NEUROD4","melanoma","NULL"]
["NFASC","melanoma","NULL"]
["NFATC4","melanoma","NULL"]
["NFE2L1","melanoma","NULL"]
["NFE2L3","melanoma","NULL"]
["NFIA","melanoma","NULL"]
["NFIX","melanoma","NULL"]
["NFKB1","melanoma","NULL"]
["NFS1","melanoma","NULL"]
["NFXL1","melanoma","NULL"]
["NHS","melanoma","NULL"]
["NID2","melanoma","NULL"]
["NIF3L1","melanoma","NULL"]
["NIN","melanoma","NULL"]
["NINL","melanoma","NULL"]
["NIPSNAP1","melanoma","NULL"]
["NKTR","melanoma","NULL"]
["NKX2-2","melanoma","NULL"]
["NLGN1","melanoma","NULL"]
["NLGN4X","melanoma","NULL"]
["NLRC4","melanoma","NULL"]
["NLRC5","melanoma","NULL"]
["NLRP10","melanoma","NULL"]
["NLRP11","melanoma","NULL"]
["NLRP13","melanoma","NULL"]
["NLRP14","melanoma","NULL"]
["NLRP2","melanoma","NULL"]
["NLRP3","melanoma","NULL"]
["NLRP4","melanoma","NULL"]
["NLRP5","melanoma","NULL"]
["NLRP7","melanoma","NULL"]
["NLRP8","melanoma","NULL"]
["NLRP9","melanoma","NULL"]
["NLRX1","melanoma","NULL"]
["NME8","melanoma","NULL"]
["NMNAT2","melanoma","NULL"]
["NMRK2","melanoma","NULL"]
["NMUR2","melanoma","NULL"]
["NOD1","melanoma","NULL"]
["NOD2","melanoma","NULL"]
["NOL9","melanoma","NULL"]
["NOMO2","melanoma","NULL"]
["NOP9","melanoma","NULL"]
["NOS1","melanoma","NULL"]
["NOS2","melanoma","NULL"]
["NOS3","melanoma","NULL"]
["NOTCH1","melanoma","NULL"]
["NOTCH2","melanoma","NULL"]
["NOTCH3","melanoma","NULL"]
["NOTCH4","melanoma","NULL"]
["NOVA1","melanoma","NULL"]
["NPAP1","melanoma","NULL"]
["NPAS3","melanoma","NULL"]
["NPC1","melanoma","NULL"]
["NPC1L1","melanoma","NULL"]
["NPHS1","melanoma","NULL"]
["NPL","melanoma","NULL"]
["NPNT","melanoma","NULL"]
["NPSR1","melanoma","NULL"]
["NPTX2","melanoma","NULL"]
["NPTXR","melanoma","NULL"]
["NPY5R","melanoma","NULL"]
["NR1D2","melanoma","NULL"]
["NR1I3","melanoma","NULL"]
["NR2E1","melanoma","NULL"]
["NRAS","melanoma","NULL"]
["NREP","melanoma","NULL"]
["NRG2","melanoma","NULL"]
["NRG3","melanoma","NULL"]
["NRP1","melanoma","NULL"]
["NRP2","melanoma","NULL"]
["NRXN2","melanoma","NULL"]
["NRXN3","melanoma","NULL"]
["NSL1","melanoma","NULL"]
["NSUN3","melanoma","NULL"]
["NTM","melanoma","NULL"]
["NTNG1","melanoma","NULL"]
["NTSR1","melanoma","NULL"]
["NUAK1","melanoma","NULL"]
["NUBP1","melanoma","NULL"]
["NUF2","melanoma","NULL"]
["NUFIP2","melanoma","NULL"]
["NUP107","melanoma","NULL"]
["NUP133","melanoma","NULL"]
["NUP160","melanoma","NULL"]
["NUP210","melanoma","NULL"]
["NUP210L","melanoma","NULL"]
["NUP214","melanoma","NULL"]
["NUP98","melanoma","NULL"]
["NUPL2","melanoma","NULL"]
["NVL","melanoma","NULL"]
["NWD1","melanoma","NULL"]
["NXF1","melanoma","NULL"]
["NXPE3","melanoma","NULL"]
["NXPE4","melanoma","NULL"]
["NXPH3","melanoma","NULL"]
["NYAP1","melanoma","NULL"]
["OGFOD1","melanoma","NULL"]
["OLFM1","melanoma","NULL"]
["OLFM4","melanoma","NULL"]
["OLFML2B","melanoma","NULL"]
["OPCML","melanoma","NULL"]
["OPN4","melanoma","NULL"]
["OPRK1","melanoma","NULL"]
["OPRL1","melanoma","NULL"]
["OPRM1","melanoma","NULL"]
["OR10A5","melanoma","NULL"]
["OR10A6","melanoma","NULL"]
["OR10A7","melanoma","NULL"]
["OR10AG1","melanoma","NULL"]
["OR10G2","melanoma","NULL"]
["OR10G4","melanoma","NULL"]
["OR10G8","melanoma","NULL"]
["OR10G9","melanoma","NULL"]
["OR10H2","melanoma","NULL"]
["OR10H4","melanoma","NULL"]
["OR10J5","melanoma","NULL"]
["OR10R2","melanoma","NULL"]
["OR10S1","melanoma","NULL"]
["OR10T2","melanoma","NULL"]
["OR10Z1","melanoma","NULL"]
["OR11G2","melanoma","NULL"]
["OR11H6","melanoma","NULL"]
["OR11L1","melanoma","NULL"]
["OR13C2","melanoma","NULL"]
["OR13C4","melanoma","NULL"]
["OR13C5","melanoma","NULL"]
["OR13C8","melanoma","NULL"]
["OR13D1","melanoma","NULL"]
["OR13F1","melanoma","NULL"]
["OR13G1","melanoma","NULL"]
["OR14C36","melanoma","NULL"]
["OR1A1","melanoma","NULL"]
["OR1A2","melanoma","NULL"]
["OR1C1","melanoma","NULL"]
["OR1J1","melanoma","NULL"]
["OR1J2","melanoma","NULL"]
["OR1L1","melanoma","NULL"]
["OR1L3","melanoma","NULL"]
["OR1L8","melanoma","NULL"]
["OR1M1","melanoma","NULL"]
["OR1N1","melanoma","NULL"]
["OR1N2","melanoma","NULL"]
["OR2A1","melanoma","NULL"]
["OR2A2","melanoma","NULL"]
["OR2AG2","melanoma","NULL"]
["OR2B3","melanoma","NULL"]
["OR2B6","melanoma","NULL"]
["OR2C3","melanoma","NULL"]
["OR2D2","melanoma","NULL"]
["OR2F1","melanoma","NULL"]
["OR2F2","melanoma","NULL"]
["OR2G6","melanoma","NULL"]
["OR2L2","melanoma","NULL"]
["OR2L3","melanoma","NULL"]
["OR2L8","melanoma","NULL"]
["OR2M2","melanoma","NULL"]
["OR2M3","melanoma","NULL"]
["OR2M7","melanoma","NULL"]
["OR2T10","melanoma","NULL"]
["OR2T12","melanoma","NULL"]
["OR2T2","melanoma","NULL"]
["OR2T27","melanoma","NULL"]
["OR2T3","melanoma","NULL"]
["OR2T34","melanoma","NULL"]
["OR2T4","melanoma","NULL"]
["OR2T6","melanoma","NULL"]
["OR2W1","melanoma","NULL"]
["OR2W5","melanoma","NULL"]
["OR2Z1","melanoma","NULL"]
["OR3A2","melanoma","NULL"]
["OR4A15","melanoma","NULL"]
["OR4A47","melanoma","NULL"]
["OR4A5","melanoma","NULL"]
["OR4B1","melanoma","NULL"]
["OR4C12","melanoma","NULL"]
["OR4C13","melanoma","NULL"]
["OR4C15","melanoma","NULL"]
["OR4C16","melanoma","NULL"]
["OR4C3","melanoma","NULL"]
["OR4C6","melanoma","NULL"]
["OR4D10","melanoma","NULL"]
["OR4E2","melanoma","NULL"]
["OR4K1","melanoma","NULL"]
["OR4K14","melanoma","NULL"]
["OR4K17","melanoma","NULL"]
["OR4K2","melanoma","NULL"]
["OR4K5","melanoma","NULL"]
["OR4L1","melanoma","NULL"]
["OR4N2","melanoma","NULL"]
["OR4Q3","melanoma","NULL"]
["OR4S2","melanoma","NULL"]
["OR4X1","melanoma","NULL"]
["OR51A4","melanoma","NULL"]
["OR51A7","melanoma","NULL"]
["OR51B2","melanoma","NULL"]
["OR51B4","melanoma","NULL"]
["OR51B6","melanoma","NULL"]
["OR51F1","melanoma","NULL"]
["OR51G1","melanoma","NULL"]
["OR51G2","melanoma","NULL"]
["OR51I2","melanoma","NULL"]
["OR51L1","melanoma","NULL"]
["OR51S1","melanoma","NULL"]
["OR51V1","melanoma","NULL"]
["OR52A5","melanoma","NULL"]
["OR52D1","melanoma","NULL"]
["OR52E2","melanoma","NULL"]
["OR52E8","melanoma","NULL"]
["OR52J3","melanoma","NULL"]
["OR52K2","melanoma","NULL"]
["OR52N1","melanoma","NULL"]
["OR52N2","melanoma","NULL"]
["OR52N4","melanoma","NULL"]
["OR52N5","melanoma","NULL"]
["OR52R1","melanoma","NULL"]
["OR56A4","melanoma","NULL"]
["OR56B1","melanoma","NULL"]
["OR5AC2","melanoma","NULL"]
["OR5AP2","melanoma","NULL"]
["OR5AS1","melanoma","NULL"]
["OR5B17","melanoma","NULL"]
["OR5B3","melanoma","NULL"]
["OR5D13","melanoma","NULL"]
["OR5D16","melanoma","NULL"]
["OR5D18","melanoma","NULL"]
["OR5H14","melanoma","NULL"]
["OR5H15","melanoma","NULL"]
["OR5H6","melanoma","NULL"]
["OR5L1","melanoma","NULL"]
["OR5M9","melanoma","NULL"]
["OR5P2","melanoma","NULL"]
["OR5P3","melanoma","NULL"]
["OR5W2","melanoma","NULL"]
["OR6C2","melanoma","NULL"]
["OR6C3","melanoma","NULL"]
["OR6C6","melanoma","NULL"]
["OR6C70","melanoma","NULL"]
["OR6K6","melanoma","NULL"]
["OR6M1","melanoma","NULL"]
["OR6S1","melanoma","NULL"]
["OR6X1","melanoma","NULL"]
["OR7C2","melanoma","NULL"]
["OR7D4","melanoma","NULL"]
["OR7E24","melanoma","NULL"]
["OR7G2","melanoma","NULL"]
["OR8B12","melanoma","NULL"]
["OR8B3","melanoma","NULL"]
["OR8B4","melanoma","NULL"]
["OR8D1","melanoma","NULL"]
["OR8D4","melanoma","NULL"]
["OR8H1","melanoma","NULL"]
["OR8H2","melanoma","NULL"]
["OR8J3","melanoma","NULL"]
["OR8K5","melanoma","NULL"]
["OR8S1","melanoma","NULL"]
["OR9A2","melanoma","NULL"]
["OR9A4","melanoma","NULL"]
["OR9G1","melanoma","NULL"]
["OR9G4","melanoma","NULL"]
["ORC2","melanoma","NULL"]
["OSBP2","melanoma","NULL"]
["OSBPL10","melanoma","NULL"]
["OSM","melanoma","NULL"]
["OSMR","melanoma","NULL"]
["OSTF1","melanoma","NULL"]
["OSTN","melanoma","NULL"]
["OTC","melanoma","NULL"]
["OTOA","melanoma","NULL"]
["OTOF","melanoma","NULL"]
["OTUD7A","melanoma","NULL"]
["OTUD7B","melanoma","NULL"]
["OXNAD1","melanoma","NULL"]
["P2RX1","melanoma","NULL"]
["P2RX7","melanoma","NULL"]
["P2RY2","melanoma","NULL"]
["P4HA3","melanoma","NULL"]
["PABPC1","melanoma","NULL"]
["PADI4","melanoma","NULL"]
["PAFAH1B1","melanoma","NULL"]
["PAGE1","melanoma","NULL"]
["PAK1","melanoma","NULL"]
["PAK6","melanoma","NULL"]
["PAK7","melanoma","NULL"]
["PAN2","melanoma","NULL"]
["PAPLN","melanoma","NULL"]
["PAPPA","melanoma","NULL"]
["PAPPA2","melanoma","NULL"]
["PAPSS2","melanoma","NULL"]
["PARD3B","melanoma","NULL"]
["PARP1","melanoma","NULL"]
["PARP3","melanoma","NULL"]
["PARP4","melanoma","NULL"]
["PARP8","melanoma","NULL"]
["PARP9","melanoma","NULL"]
["PAX3","melanoma","NULL"]
["PAX6","melanoma","NULL"]
["PBLD","melanoma","NULL"]
["PBX1","melanoma","NULL"]
["PBX3","melanoma","NULL"]
["PCBP3","melanoma","NULL"]
["PCDH11X","melanoma","NULL"]
["PCDH15","melanoma","NULL"]
["PCDH17","melanoma","NULL"]
["PCDH18","melanoma","NULL"]
["PCDH8","melanoma","NULL"]
["PCDH9","melanoma","NULL"]
["PCDHA1","melanoma","NULL"]
["PCDHB10","melanoma","NULL"]
["PCDHB11","melanoma","NULL"]
["PCDHB12","melanoma","NULL"]
["PCDHB13","melanoma","NULL"]
["PCDHB15","melanoma","NULL"]
["PCDHB4","melanoma","NULL"]
["PCDHB5","melanoma","NULL"]
["PCDHB6","melanoma","NULL"]
["PCDHB7","melanoma","NULL"]
["PCDHB8","melanoma","NULL"]
["PCED1B","melanoma","NULL"]
["PCIF1","melanoma","NULL"]
["PCK1","melanoma","NULL"]
["PCMTD1","melanoma","NULL"]
["PCOLCE2","melanoma","NULL"]
["PCSK9","melanoma","NULL"]
["PCYOX1L","melanoma","NULL"]
["PDC","melanoma","NULL"]
["PDE10A","melanoma","NULL"]
["PDE1B","melanoma","NULL"]
["PDE1C","melanoma","NULL"]
["PDE2A","melanoma","NULL"]
["PDE4C","melanoma","NULL"]
["PDE4DIP","melanoma","NULL"]
["PDE6C","melanoma","NULL"]
["PDE6H","melanoma","NULL"]
["PDE8A","melanoma","NULL"]
["PDE9A","melanoma","NULL"]
["PDGFB","melanoma","NULL"]
["PDGFC","melanoma","NULL"]
["PDGFRA","melanoma","NULL"]
["PDIA2","melanoma","NULL"]
["PDIA3","melanoma","NULL"]
["PDP1","melanoma","NULL"]
["PDXDC1","melanoma","NULL"]
["PDZD2","melanoma","NULL"]
["PDZRN4","melanoma","NULL"]
["PEBP4","melanoma","NULL"]
["PENK","melanoma","NULL"]
["PER1","melanoma","NULL"]
["PER3","melanoma","NULL"]
["PEX13","melanoma","NULL"]
["PEX16","melanoma","NULL"]
["PEX26","melanoma","NULL"]
["PGA3","melanoma","NULL"]
["PGA4","melanoma","NULL"]
["PGA5","melanoma","NULL"]
["PGBD1","melanoma","NULL"]
["PGLYRP3","melanoma","NULL"]
["PGM3","melanoma","NULL"]
["PGP","melanoma","NULL"]
["PHF21A","melanoma","NULL"]
["PHKA1","melanoma","NULL"]
["PHLDB2","melanoma","NULL"]
["PHOSPHO2","melanoma","NULL"]
["PI4KB","melanoma","NULL"]
["PIAS2","melanoma","NULL"]
["PID1","melanoma","NULL"]
["PIFO","melanoma","NULL"]
["PIGG","melanoma","NULL"]
["PIGR","melanoma","NULL"]
["PIK3AP1","melanoma","NULL"]
["PIK3C2B","melanoma","NULL"]
["PIK3C2G","melanoma","NULL"]
["PIK3CA","melanoma","NULL"]
["PIK3CD","melanoma","NULL"]
["PIK3R4","melanoma","NULL"]
["PIK3R5","melanoma","NULL"]
["PIKFYVE","melanoma","NULL"]
["PILRA","melanoma","NULL"]
["PIM2","melanoma","NULL"]
["PIN1","melanoma","NULL"]
["PIP5K1C","melanoma","NULL"]
["PITPNM2","melanoma","NULL"]
["PIWIL2","melanoma","NULL"]
["PIWIL4","melanoma","NULL"]
["PJA2","melanoma","NULL"]
["PKD1","melanoma","NULL"]
["PKD1L1","melanoma","NULL"]
["PKD2","melanoma","NULL"]
["PKD2L1","melanoma","NULL"]
["PKHD1","melanoma","NULL"]
["PKHD1L1","melanoma","NULL"]
["PKLR","melanoma","NULL"]
["PKN2","melanoma","NULL"]
["PKP2","melanoma","NULL"]
["PKP4","melanoma","NULL"]
["PLA2G1B","melanoma","NULL"]
["PLA2G4C","melanoma","NULL"]
["PLA2G4D","melanoma","NULL"]
["PLA2G5","melanoma","NULL"]
["PLA2R1","melanoma","NULL"]
["PLAGL1","melanoma","NULL"]
["PLB1","melanoma","NULL"]
["PLCB1","melanoma","NULL"]
["PLCB4","melanoma","NULL"]
["PLCG1","melanoma","NULL"]
["PLCH1","melanoma","NULL"]
["PLCL1","melanoma","NULL"]
["PLCL2","melanoma","NULL"]
["PLCXD2","melanoma","NULL"]
["PLCXD3","melanoma","NULL"]
["PLD1","melanoma","NULL"]
["PLD4","melanoma","NULL"]
["PLEC","melanoma","NULL"]
["PLEKHA5","melanoma","NULL"]
["PLEKHA7","melanoma","NULL"]
["PLEKHG2","melanoma","NULL"]
["PLEKHG3","melanoma","NULL"]
["PLEKHG4","melanoma","NULL"]
["PLEKHG4B","melanoma","NULL"]
["PLEKHG6","melanoma","NULL"]
["PLEKHH2","melanoma","NULL"]
["PLG","melanoma","NULL"]
["PLK1","melanoma","NULL"]
["PLOD2","melanoma","NULL"]
["PLXDC1","melanoma","NULL"]
["PLXDC2","melanoma","NULL"]
["PLXNA1","melanoma","NULL"]
["PM20D1","melanoma","NULL"]
["PMFBP1","melanoma","NULL"]
["PNLDC1","melanoma","NULL"]
["PNLIP","melanoma","NULL"]
["PNPLA1","melanoma","NULL"]
["PNPLA7","melanoma","NULL"]
["POLA1","melanoma","NULL"]
["POLE","melanoma","NULL"]
["POLE2","melanoma","NULL"]
["POLR1A","melanoma","NULL"]
["POLR2A","melanoma","NULL"]
["POLR3H","melanoma","NULL"]
["POMT2","melanoma","NULL"]
["POPDC3","melanoma","NULL"]
["POTEC","melanoma","NULL"]
["POTED","melanoma","NULL"]
["POTEE","melanoma","NULL"]
["POTEF","melanoma","NULL"]
["POTEH","melanoma","NULL"]
["POU2F1","melanoma","NULL"]
["POU2F3","melanoma","NULL"]
["PPARGC1A","melanoma","NULL"]
["PPBP","melanoma","NULL"]
["PPIF","melanoma","NULL"]
["PPL","melanoma","NULL"]
["PPM1A","melanoma","NULL"]
["PPM1B","melanoma","NULL"]
["PPP1R11","melanoma","NULL"]
["PPP1R13L","melanoma","NULL"]
["PPP1R16B","melanoma","NULL"]
["PPP1R26","melanoma","NULL"]
["PPP1R36","melanoma","NULL"]
["PPP1R3A","melanoma","NULL"]
["PPP1R3B","melanoma","NULL"]
["PPP1R3F","melanoma","NULL"]
["PPP2CA","melanoma","NULL"]
["PPP2R2C","melanoma","NULL"]
["PPP2R3A","melanoma","NULL"]
["PPP4R4","melanoma","NULL"]
["PPP5C","melanoma","NULL"]
["PRAMEF1","melanoma","NULL"]
["PRAMEF11","melanoma","NULL"]
["PRAMEF2","melanoma","NULL"]
["PRAMEF4","melanoma","NULL"]
["PRB3","melanoma","NULL"]
["PRCP","melanoma","NULL"]
["PRDM1","melanoma","NULL"]
["PRDM16","melanoma","NULL"]
["PRDM4","melanoma","NULL"]
["PRDM8","melanoma","NULL"]
["PRELID1","melanoma","NULL"]
["PREX2","melanoma","NULL"]
["PRG4","melanoma","NULL"]
["PRICKLE1","melanoma","NULL"]
["PRICKLE2","melanoma","NULL"]
["PRIMA1","melanoma","NULL"]
["PRKAA2","melanoma","NULL"]
["PRKAB2","melanoma","NULL"]
["PRKACG","melanoma","NULL"]
["PRKCD","melanoma","NULL"]
["PRKCG","melanoma","NULL"]
["PRKCH","melanoma","NULL"]
["PRKCQ","melanoma","NULL"]
["PRKD3","melanoma","NULL"]
["PRKG1","melanoma","NULL"]
["PRKG2","melanoma","NULL"]
["PRKX","melanoma","NULL"]
["PRLR","melanoma","NULL"]
["PROSC","melanoma","NULL"]
["PRPF40B","melanoma","NULL"]
["PRR14L","melanoma","NULL"]
["PRR21","melanoma","NULL"]
["PRRC2A","melanoma","NULL"]
["PRRG2","melanoma","NULL"]
["PRRG3","melanoma","NULL"]
["PRSS12","melanoma","NULL"]
["PRSS16","melanoma","NULL"]
["PRSS37","melanoma","NULL"]
["PRTG","melanoma","NULL"]
["PSD4","melanoma","NULL"]
["PSG11","melanoma","NULL"]
["PSG3","melanoma","NULL"]
["PSG4","melanoma","NULL"]
["PSG5","melanoma","NULL"]
["PSG9","melanoma","NULL"]
["PSMA1","melanoma","NULL"]
["PSMA6","melanoma","NULL"]
["PSMB8","melanoma","NULL"]
["PSMC3IP","melanoma","NULL"]
["PSMD1","melanoma","NULL"]
["PSPN","melanoma","NULL"]
["PTBP1","melanoma","NULL"]
["PTCH2","melanoma","NULL"]
["PTCHD1","melanoma","NULL"]
["PTCHD2","melanoma","NULL"]
["PTEN","melanoma","NULL"]
["PTF1A","melanoma","NULL"]
["PTGDR","melanoma","NULL"]
["PTGER3","melanoma","NULL"]
["PTGFR","melanoma","NULL"]
["PTGIS","melanoma","NULL"]
["PTGS1","melanoma","NULL"]
["PTH2R","melanoma","NULL"]
["PTK2B","melanoma","NULL"]
["PTPLAD2","melanoma","NULL"]
["PTPMT1","melanoma","NULL"]
["PTPN11","melanoma","NULL"]
["PTPN2","melanoma","NULL"]
["PTPN21","melanoma","NULL"]
["PTPN23","melanoma","NULL"]
["PTPN7","melanoma","NULL"]
["PTPRC","melanoma","NULL"]
["PTPRE","melanoma","NULL"]
["PTPRF","melanoma","NULL"]
["PTPRG","melanoma","NULL"]
["PTPRH","melanoma","NULL"]
["PTPRK","melanoma","NULL"]
["PTPRN","melanoma","NULL"]
["PTPRN2","melanoma","NULL"]
["PTPRO","melanoma","NULL"]
["PTPRT","melanoma","NULL"]
["PTPRU","melanoma","NULL"]
["PTPRZ1","melanoma","NULL"]
["PUSL1","melanoma","NULL"]
["PVALB","melanoma","NULL"]
["PVRIG","melanoma","NULL"]
["PYGB","melanoma","NULL"]
["PYGL","melanoma","NULL"]
["PYGO1","melanoma","NULL"]
["PYGO2","melanoma","NULL"]
["QARS","melanoma","NULL"]
["QPCTL","melanoma","NULL"]
["QRICH2","melanoma","NULL"]
["QSER1","melanoma","NULL"]
["QTRT1","melanoma","NULL"]
["R3HDM1","melanoma","NULL"]
["RAB11FIP1","melanoma","NULL"]
["RAB11FIP2","melanoma","NULL"]
["RAB11FIP4","melanoma","NULL"]
["RAB23","melanoma","NULL"]
["RAB36","melanoma","NULL"]
["RABEP2","melanoma","NULL"]
["RABL2A","melanoma","NULL"]
["RAC2","melanoma","NULL"]
["RAD54B","melanoma","NULL"]
["RAG1","melanoma","NULL"]
["RAG2","melanoma","NULL"]
["RAI1","melanoma","NULL"]
["RALGAPB","melanoma","NULL"]
["RAPGEF3","melanoma","NULL"]
["RAPGEF4","melanoma","NULL"]
["RAPGEFL1","melanoma","NULL"]
["RARS","melanoma","NULL"]
["RASA4","melanoma","NULL"]
["RASAL1","melanoma","NULL"]
["RASGRF1","melanoma","NULL"]
["RASSF1","melanoma","NULL"]
["RASSF7","melanoma","NULL"]
["RB1CC1","melanoma","NULL"]
["RBFOX1","melanoma","NULL"]
["RBKS","melanoma","NULL"]
["RBL1","melanoma","NULL"]
["RBM19","melanoma","NULL"]
["RBM23","melanoma","NULL"]
["RBM24","melanoma","NULL"]
["RBM46","melanoma","NULL"]
["RBM4B","melanoma","NULL"]
["RBP2","melanoma","NULL"]
["RBX1","melanoma","NULL"]
["RCBTB2","melanoma","NULL"]
["RCOR2","melanoma","NULL"]
["RDH13","melanoma","NULL"]
["RECK","melanoma","NULL"]
["REEP4","melanoma","NULL"]
["REEP5","melanoma","NULL"]
["REG1A","melanoma","NULL"]
["REG1B","melanoma","NULL"]
["REG3A","melanoma","NULL"]
["REN","melanoma","NULL"]
["REPS2","melanoma","NULL"]
["RERE","melanoma","NULL"]
["REST","melanoma","NULL"]
["RETNLB","melanoma","NULL"]
["REV3L","melanoma","NULL"]
["RFC1","melanoma","NULL"]
["RFNG","melanoma","NULL"]
["RFPL2","melanoma","NULL"]
["RFPL3","melanoma","NULL"]
["RFT1","melanoma","NULL"]
["RFX2","melanoma","NULL"]
["RFX6","melanoma","NULL"]
["RFXANK","melanoma","NULL"]
["RGPD4","melanoma","NULL"]
["RGS19","melanoma","NULL"]
["RGS21","melanoma","NULL"]
["RGS22","melanoma","NULL"]
["RGS3","melanoma","NULL"]
["RGS6","melanoma","NULL"]
["RGS7","melanoma","NULL"]
["RGS9","melanoma","NULL"]
["RHAG","melanoma","NULL"]
["RHOBTB3","melanoma","NULL"]
["RHPN2","melanoma","NULL"]
["RIBC1","melanoma","NULL"]
["RIF1","melanoma","NULL"]
["RIMBP3B","melanoma","NULL"]
["RIMS2","melanoma","NULL"]
["RIOK1","melanoma","NULL"]
["RIT2","melanoma","NULL"]
["RMND5A","melanoma","NULL"]
["RNF113B","melanoma","NULL"]
["RNF123","melanoma","NULL"]
["RNF135","melanoma","NULL"]
["RNF145","melanoma","NULL"]
["RNF17","melanoma","NULL"]
["RNF19A","melanoma","NULL"]
["RNF20","melanoma","NULL"]
["RNF212","melanoma","NULL"]
["RNF43","melanoma","NULL"]
["RNF6","melanoma","NULL"]
["ROBO2","melanoma","NULL"]
["ROBO3","melanoma","NULL"]
["ROCK1","melanoma","NULL"]
["ROM1","melanoma","NULL"]
["ROPN1","melanoma","NULL"]
["RORB","melanoma","NULL"]
["ROS1","melanoma","NULL"]
["RP1","melanoma","NULL"]
["RP1L1","melanoma","NULL"]
["RPA2","melanoma","NULL"]
["RPH3A","melanoma","NULL"]
["RPH3AL","melanoma","NULL"]
["RPL9","melanoma","NULL"]
["RPN2","melanoma","NULL"]
["RPS16","melanoma","NULL"]
["RPS20","melanoma","NULL"]
["RPS24","melanoma","NULL"]
["RPS6KA5","melanoma","NULL"]
["RPS6KA6","melanoma","NULL"]
["RPUSD2","melanoma","NULL"]
["RREB1","melanoma","NULL"]
["RRP1B","melanoma","NULL"]
["RRP7A","melanoma","NULL"]
["RSPH10B","melanoma","NULL"]
["RSPH10B2","melanoma","NULL"]
["RSPH6A","melanoma","NULL"]
["RSPH9","melanoma","NULL"]
["RSPO2","melanoma","NULL"]
["RSRC1","melanoma","NULL"]
["RTKN","melanoma","NULL"]
["RTTN","melanoma","NULL"]
["RUNDC3B","melanoma","NULL"]
["RUNX2","melanoma","NULL"]
["RUSC2","melanoma","NULL"]
["RYR1","melanoma","NULL"]
["S100A7","melanoma","NULL"]
["S1PR4","melanoma","NULL"]
["SACS","melanoma","NULL"]
["SAGE1","melanoma","NULL"]
["SALL1","melanoma","NULL"]
["SAMD7","melanoma","NULL"]
["SAMD9","melanoma","NULL"]
["SAMHD1","melanoma","NULL"]
["SAMM50","melanoma","NULL"]
["SAP130","melanoma","NULL"]
["SAPCD2","melanoma","NULL"]
["SARS2","melanoma","NULL"]
["SATB1","melanoma","NULL"]
["SBF2","melanoma","NULL"]
["SBNO1","melanoma","NULL"]
["SCAF11","melanoma","NULL"]
["SCARA3","melanoma","NULL"]
["SCARF1","melanoma","NULL"]
["SCGB1C1","melanoma","NULL"]
["SCGB1D1","melanoma","NULL"]
["SCN10A","melanoma","NULL"]
["SCN11A","melanoma","NULL"]
["SCN1A","melanoma","NULL"]
["SCN3A","melanoma","NULL"]
["SCN3B","melanoma","NULL"]
["SCN4B","melanoma","NULL"]
["SCN5A","melanoma","NULL"]
["SCN9A","melanoma","NULL"]
["SCNM1","melanoma","NULL"]
["SCNN1G","melanoma","NULL"]
["SCP2D1","melanoma","NULL"]
["SCPEP1","melanoma","NULL"]
["SCTR","melanoma","NULL"]
["SCUBE1","melanoma","NULL"]
["SCUBE2","melanoma","NULL"]
["SDC1","melanoma","NULL"]
["SDCBP2","melanoma","NULL"]
["SDK1","melanoma","NULL"]
["SEC14L3","melanoma","NULL"]
["SEC14L4","melanoma","NULL"]
["SEC24C","melanoma","NULL"]
["SECISBP2","melanoma","NULL"]
["SECISBP2L","melanoma","NULL"]
["SELE","melanoma","NULL"]
["SELP","melanoma","NULL"]
["SEMA3F","melanoma","NULL"]
["SEMA4A","melanoma","NULL"]
["SEMA4C","melanoma","NULL"]
["SEMA6C","melanoma","NULL"]
["SEMA6D","melanoma","NULL"]
["SEMG1","melanoma","NULL"]
["SEMG2","melanoma","NULL"]
["SENP8","melanoma","NULL"]
["SEPHS1","melanoma","NULL"]
["SERBP1","melanoma","NULL"]
["SERGEF","melanoma","NULL"]
["SERINC3","melanoma","NULL"]
["SERPINA10","melanoma","NULL"]
["SERPINA3","melanoma","NULL"]
["SERPINA6","melanoma","NULL"]
["SERPINB10","melanoma","NULL"]
["SERPINB12","melanoma","NULL"]
["SERPINB3","melanoma","NULL"]
["SERPINI2","melanoma","NULL"]
["SERTM1","melanoma","NULL"]
["SETX","melanoma","NULL"]
["SEZ6L2","melanoma","NULL"]
["SFT2D2","melanoma","NULL"]
["SFTPD","melanoma","NULL"]
["SGCG","melanoma","NULL"]
["SGK1","melanoma","NULL"]
["SGOL2","melanoma","NULL"]
["SGPP2","melanoma","NULL"]
["SGSM2","melanoma","NULL"]
["SH3BP4","melanoma","NULL"]
["SH3D19","melanoma","NULL"]
["SH3GL3","melanoma","NULL"]
["SH3PXD2B","melanoma","NULL"]
["SH3RF2","melanoma","NULL"]
["SHANK2","melanoma","NULL"]
["SHB","melanoma","NULL"]
["SHC1","melanoma","NULL"]
["SHISA3","melanoma","NULL"]
["SHOC2","melanoma","NULL"]
["SHROOM2","melanoma","NULL"]
["SHROOM3","melanoma","NULL"]
["SI","melanoma","NULL"]
["SIAH3","melanoma","NULL"]
["SIGLEC1","melanoma","NULL"]
["SIGLEC12","melanoma","NULL"]
["SIGLEC7","melanoma","NULL"]
["SIGLEC8","melanoma","NULL"]
["SIGLEC9","melanoma","NULL"]
["SIK3","melanoma","NULL"]
["SIN3A","melanoma","NULL"]
["SIPA1L2","melanoma","NULL"]
["SIRPB1","melanoma","NULL"]
["SKIV2L2","melanoma","NULL"]
["SLAIN1","melanoma","NULL"]
["SLAMF6","melanoma","NULL"]
["SLC10A2","melanoma","NULL"]
["SLC10A3","melanoma","NULL"]
["SLC12A6","melanoma","NULL"]
["SLC12A7","melanoma","NULL"]
["SLC12A8","melanoma","NULL"]
["SLC14A2","melanoma","NULL"]
["SLC15A1","melanoma","NULL"]
["SLC15A2","melanoma","NULL"]
["SLC16A12","melanoma","NULL"]
["SLC16A13","melanoma","NULL"]
["SLC16A14","melanoma","NULL"]
["SLC16A9","melanoma","NULL"]
["SLC17A4","melanoma","NULL"]
["SLC17A5","melanoma","NULL"]
["SLC17A7","melanoma","NULL"]
["SLC17A9","melanoma","NULL"]
["SLC1A6","melanoma","NULL"]
["SLC22A2","melanoma","NULL"]
["SLC22A25","melanoma","NULL"]
["SLC22A8","melanoma","NULL"]
["SLC25A11","melanoma","NULL"]
["SLC25A12","melanoma","NULL"]
["SLC25A13","melanoma","NULL"]
["SLC25A28","melanoma","NULL"]
["SLC25A47","melanoma","NULL"]
["SLC25A48","melanoma","NULL"]
["SLC26A3","melanoma","NULL"]
["SLC26A4","melanoma","NULL"]
["SLC26A9","melanoma","NULL"]
["SLC27A2","melanoma","NULL"]
["SLC28A1","melanoma","NULL"]
["SLC28A3","melanoma","NULL"]
["SLC29A1","melanoma","NULL"]
["SLC2A12","melanoma","NULL"]
["SLC30A8","melanoma","NULL"]
["SLC34A2","melanoma","NULL"]
["SLC35B4","melanoma","NULL"]
["SLC35G5","melanoma","NULL"]
["SLC35G6","melanoma","NULL"]
["SLC36A1","melanoma","NULL"]
["SLC36A3","melanoma","NULL"]
["SLC38A1","melanoma","NULL"]
["SLC38A6","melanoma","NULL"]
["SLC39A10","melanoma","NULL"]
["SLC39A5","melanoma","NULL"]
["SLC41A1","melanoma","NULL"]
["SLC41A2","melanoma","NULL"]
["SLC44A5","melanoma","NULL"]
["SLC45A1","melanoma","NULL"]
["SLC46A3","melanoma","NULL"]
["SLC4A4","melanoma","NULL"]
["SLC4A5","melanoma","NULL"]
["SLC4A7","melanoma","NULL"]
["SLC4A8","melanoma","NULL"]
["SLC5A1","melanoma","NULL"]
["SLC5A12","melanoma","NULL"]
["SLC5A5","melanoma","NULL"]
["SLC6A1","melanoma","NULL"]
["SLC6A11","melanoma","NULL"]
["SLC6A16","melanoma","NULL"]
["SLC6A4","melanoma","NULL"]
["SLC6A5","melanoma","NULL"]
["SLC6A6","melanoma","NULL"]
["SLC7A11","melanoma","NULL"]
["SLC7A13","melanoma","NULL"]
["SLC7A14","melanoma","NULL"]
["SLC7A2","melanoma","NULL"]
["SLC7A9","melanoma","NULL"]
["SLC8A1","melanoma","NULL"]
["SLC8A2","melanoma","NULL"]
["SLC8A3","melanoma","NULL"]
["SLC9A2","melanoma","NULL"]
["SLC9A4","melanoma","NULL"]
["SLC9A9","melanoma","NULL"]
["SLC9B1","melanoma","NULL"]
["SLCO1A2","melanoma","NULL"]
["SLCO1B1","melanoma","NULL"]
["SLCO1B3","melanoma","NULL"]
["SLCO1C1","melanoma","NULL"]
["SLCO2B1","melanoma","NULL"]
["SLCO3A1","melanoma","NULL"]
["SLCO6A1","melanoma","NULL"]
["SLFN11","melanoma","NULL"]
["SLFN12","melanoma","NULL"]
["SLFN5","melanoma","NULL"]
["SLFNL1","melanoma","NULL"]
["SLIT3","melanoma","NULL"]
["SLITRK1","melanoma","NULL"]
["SLITRK3","melanoma","NULL"]
["SLK","melanoma","NULL"]
["SLMO2","melanoma","NULL"]
["SLX4","melanoma","NULL"]
["SMAD6","melanoma","NULL"]
["SMARCA4","melanoma","NULL"]
["SMARCB1","melanoma","NULL"]
["SMARCC1","melanoma","NULL"]
["SMC3","melanoma","NULL"]
["SMEK2","melanoma","NULL"]
["SMG7","melanoma","NULL"]
["SMNDC1","melanoma","NULL"]
["SMPD3","melanoma","NULL"]
["SMURF1","melanoma","NULL"]
["SMURF2","melanoma","NULL"]
["SMYD1","melanoma","NULL"]
["SMYD4","melanoma","NULL"]
["SNAP25","melanoma","NULL"]
["SNCAIP","melanoma","NULL"]
["SNRK","melanoma","NULL"]
["SNRNP200","melanoma","NULL"]
["SNRPA","melanoma","NULL"]
["SNTA1","melanoma","NULL"]
["SNTB1","melanoma","NULL"]
["SOAT1","melanoma","NULL"]
["SOCS7","melanoma","NULL"]
["SOGA3","melanoma","NULL"]
["SON","melanoma","NULL"]
["SORCS3","melanoma","NULL"]
["SORL1","melanoma","NULL"]
["SOWAHB","melanoma","NULL"]
["SOX8","melanoma","NULL"]
["SP140","melanoma","NULL"]
["SP4","melanoma","NULL"]
["SP6","melanoma","NULL"]
["SPACA7","melanoma","NULL"]
["SPAG17","melanoma","NULL"]
["SPATA16","melanoma","NULL"]
["SPATA2","melanoma","NULL"]
["SPATA31A3","melanoma","NULL"]
["SPATA5L1","melanoma","NULL"]
["SPATA8","melanoma","NULL"]
["SPATC1L","melanoma","NULL"]
["SPATS1","melanoma","NULL"]
["SPECC1L","melanoma","NULL"]
["SPEF2","melanoma","NULL"]
["SPEN","melanoma","NULL"]
["SPG11","melanoma","NULL"]
["SPHKAP","melanoma","NULL"]
["SPIC","melanoma","NULL"]
["SPINK5","melanoma","NULL"]
["SPNS3","melanoma","NULL"]
["SPOCK1","melanoma","NULL"]
["SPOPL","melanoma","NULL"]
["SPRED1","melanoma","NULL"]
["SPRR3","melanoma","NULL"]
["SPTA1","melanoma","NULL"]
["SPTB","melanoma","NULL"]
["SPTBN1","melanoma","NULL"]
["SPTBN2","melanoma","NULL"]
["SPTBN4","melanoma","NULL"]
["SRCAP","melanoma","NULL"]
["SREBF1","melanoma","NULL"]
["SRL","melanoma","NULL"]
["SRRM2","melanoma","NULL"]
["SRSF3","melanoma","NULL"]
["SSB","melanoma","NULL"]
["SSBP3","melanoma","NULL"]
["SSH2","melanoma","NULL"]
["SSSCA1","melanoma","NULL"]
["SSTR3","melanoma","NULL"]
["SSX7","melanoma","NULL"]
["ST14","melanoma","NULL"]
["ST18","melanoma","NULL"]
["ST6GAL2","melanoma","NULL"]
["ST6GALNAC3","melanoma","NULL"]
["ST6GALNAC5","melanoma","NULL"]
["ST7","melanoma","NULL"]
["ST8SIA3","melanoma","NULL"]
["STAB2","melanoma","NULL"]
["STAC3","melanoma","NULL"]
["STARD13","melanoma","NULL"]
["STAT4","melanoma","NULL"]
["STAT5B","melanoma","NULL"]
["STAT6","melanoma","NULL"]
["STATH","melanoma","NULL"]
["STC1","melanoma","NULL"]
["STC2","melanoma","NULL"]
["STEAP3","melanoma","NULL"]
["STIL","melanoma","NULL"]
["STIM2","melanoma","NULL"]
["STK17A","melanoma","NULL"]
["STK4","melanoma","NULL"]
["STOX1","melanoma","NULL"]
["STRADB","melanoma","NULL"]
["STRBP","melanoma","NULL"]
["STXBP1","melanoma","NULL"]
["STXBP5L","melanoma","NULL"]
["SUCLG2","melanoma","NULL"]
["SUCO","melanoma","NULL"]
["SUFU","melanoma","NULL"]
["SULF1","melanoma","NULL"]
["SULF2","melanoma","NULL"]
["SULT1C3","melanoma","NULL"]
["SULT2B1","melanoma","NULL"]
["SUMF2","melanoma","NULL"]
["SUN2","melanoma","NULL"]
["SUN5","melanoma","NULL"]
["SUPT5H","melanoma","NULL"]
["SUPT6H","melanoma","NULL"]
["SUSD2","melanoma","NULL"]
["SV2B","melanoma","NULL"]
["SYAP1","melanoma","NULL"]
["SYCP1","melanoma","NULL"]
["SYCP2L","melanoma","NULL"]
["SYN3","melanoma","NULL"]
["SYNE1","melanoma","NULL"]
["SYNJ1","melanoma","NULL"]
["SYS1","melanoma","NULL"]
["SYT1","melanoma","NULL"]
["SYT10","melanoma","NULL"]
["SYT11","melanoma","NULL"]
["SYT2","melanoma","NULL"]
["SYT4","melanoma","NULL"]
["SYTL2","melanoma","NULL"]
["SYTL5","melanoma","NULL"]
["SZT2","melanoma","NULL"]
["TAAR5","melanoma","NULL"]
["TAAR6","melanoma","NULL"]
["TAC3","melanoma","NULL"]
["TACC2","melanoma","NULL"]
["TADA2A","melanoma","NULL"]
["TAF1L","melanoma","NULL"]
["TAF2","melanoma","NULL"]
["TAF4B","melanoma","NULL"]
["TAOK1","melanoma","NULL"]
["TAP1","melanoma","NULL"]
["TARBP1","melanoma","NULL"]
["TAS1R1","melanoma","NULL"]
["TAS1R2","melanoma","NULL"]
["TAS2R13","melanoma","NULL"]
["TAS2R16","melanoma","NULL"]
["TAS2R19","melanoma","NULL"]
["TAS2R38","melanoma","NULL"]
["TAS2R39","melanoma","NULL"]
["TAS2R41","melanoma","NULL"]
["TAS2R60","melanoma","NULL"]
["TAS2R7","melanoma","NULL"]
["TAS2R9","melanoma","NULL"]
["TBC1D10A","melanoma","NULL"]
["TBC1D16","melanoma","NULL"]
["TBC1D4","melanoma","NULL"]
["TBC1D8B","melanoma","NULL"]
["TBC1D9B","melanoma","NULL"]
["TBCEL","melanoma","NULL"]
["TBX15","melanoma","NULL"]
["TBX22","melanoma","NULL"]
["TBX3","melanoma","NULL"]
["TBX4","melanoma","NULL"]
["TBX5","melanoma","NULL"]
["TCAIM","melanoma","NULL"]
["TCERG1","melanoma","NULL"]
["TCF20","melanoma","NULL"]
["TCHHL1","melanoma","NULL"]
["TCHP","melanoma","NULL"]
["TCP11L1","melanoma","NULL"]
["TCTE1","melanoma","NULL"]
["TDRD3","melanoma","NULL"]
["TDRD5","melanoma","NULL"]
["TEC","melanoma","NULL"]
["TECPR2","melanoma","NULL"]
["TECTA","melanoma","NULL"]
["TEKT1","melanoma","NULL"]
["TEKT3","melanoma","NULL"]
["TEKT4","melanoma","NULL"]
["TENM1","melanoma","NULL"]
["TEPP","melanoma","NULL"]
["TEX10","melanoma","NULL"]
["TEX15","melanoma","NULL"]
["TEX26","melanoma","NULL"]
["TEX37","melanoma","NULL"]
["TF","melanoma","NULL"]
["TFB1M","melanoma","NULL"]
["TFF3","melanoma","NULL"]
["TFPI","melanoma","NULL"]
["TG","melanoma","NULL"]
["TGFB1","melanoma","NULL"]
["TGFB3","melanoma","NULL"]
["TGIF2LX","melanoma","NULL"]
["TGM3","melanoma","NULL"]
["TGM6","melanoma","NULL"]
["THAP10","melanoma","NULL"]
["THBS2","melanoma","NULL"]
["THEM5","melanoma","NULL"]
["THEMIS","melanoma","NULL"]
["THSD1","melanoma","NULL"]
["THUMPD2","melanoma","NULL"]
["TICRR","melanoma","NULL"]
["TIE1","melanoma","NULL"]
["TKTL1","melanoma","NULL"]
["TKTL2","melanoma","NULL"]
["TLE1","melanoma","NULL"]
["TLE4","melanoma","NULL"]
["TLL1","melanoma","NULL"]
["TLL2","melanoma","NULL"]
["TLR1","melanoma","NULL"]
["TLR4","melanoma","NULL"]
["TLR5","melanoma","NULL"]
["TMC1","melanoma","NULL"]
["TMC5","melanoma","NULL"]
["TMC7","melanoma","NULL"]
["TMCC1","melanoma","NULL"]
["TMCC3","melanoma","NULL"]
["TMEFF2","melanoma","NULL"]
["TMEM108","melanoma","NULL"]
["TMEM132A","melanoma","NULL"]
["TMEM132B","melanoma","NULL"]
["TMEM132D","melanoma","NULL"]
["TMEM161B","melanoma","NULL"]
["TMEM192","melanoma","NULL"]
["TMEM202","melanoma","NULL"]
["TMEM225","melanoma","NULL"]
["TMEM38B","melanoma","NULL"]
["TMEM45A","melanoma","NULL"]
["TMEM59L","melanoma","NULL"]
["TMEM68","melanoma","NULL"]
["TMEM74","melanoma","NULL"]
["TMEM99","melanoma","NULL"]
["TMPO","melanoma","NULL"]
["TMPRSS11A","melanoma","NULL"]
["TMPRSS11E","melanoma","NULL"]
["TMPRSS11F","melanoma","NULL"]
["TMPRSS15","melanoma","NULL"]
["TMPRSS6","melanoma","NULL"]
["TMTC3","melanoma","NULL"]
["TMX3","melanoma","NULL"]
["TNC","melanoma","NULL"]
["TNFRSF10A","melanoma","NULL"]
["TNFRSF19","melanoma","NULL"]
["TNFRSF1B","melanoma","NULL"]
["TNFSF10","melanoma","NULL"]
["TNFSF14","melanoma","NULL"]
["TNKS2","melanoma","NULL"]
["TNPO2","melanoma","NULL"]
["TNPO3","melanoma","NULL"]
["TNS4","melanoma","NULL"]
["TNXB","melanoma","NULL"]
["TOP3A","melanoma","NULL"]
["TOPAZ1","melanoma","NULL"]
["TP53","melanoma","NULL"]
["TP53AIP1","melanoma","NULL"]
["TP53BP1","melanoma","NULL"]
["TP63","melanoma","NULL"]
["TPCN1","melanoma","NULL"]
["TPD52L2","melanoma","NULL"]
["TPGS2","melanoma","NULL"]
["TPH2","melanoma","NULL"]
["TPM3","melanoma","NULL"]
["TPO","melanoma","NULL"]
["TPPP3","melanoma","NULL"]
["TPRKB","melanoma","NULL"]
["TPSD1","melanoma","NULL"]
["TRAPPC9","melanoma","NULL"]
["TRAT1","melanoma","NULL"]
["TRHDE","melanoma","NULL"]
["TRHR","melanoma","NULL"]
["TRIB1","melanoma","NULL"]
["TRIM10","melanoma","NULL"]
["TRIM24","melanoma","NULL"]
["TRIM29","melanoma","NULL"]
["TRIM42","melanoma","NULL"]
["TRIM44","melanoma","NULL"]
["TRIM50","melanoma","NULL"]
["TRIM55","melanoma","NULL"]
["TRIM58","melanoma","NULL"]
["TRIM61","melanoma","NULL"]
["TRIM9","melanoma","NULL"]
["TRIML1","melanoma","NULL"]
["TRIOBP","melanoma","NULL"]
["TRIP11","melanoma","NULL"]
["TRIP12","melanoma","NULL"]
["TRIP4","melanoma","NULL"]
["TRPC4","melanoma","NULL"]
["TRPC4AP","melanoma","NULL"]
["TRPC6","melanoma","NULL"]
["TRPM2","melanoma","NULL"]
["TRPM3","melanoma","NULL"]
["TRPM5","melanoma","NULL"]
["TRPM6","melanoma","NULL"]
["TRPM7","melanoma","NULL"]
["TRPM8","melanoma","NULL"]
["TRPS1","melanoma","NULL"]
["TRPV4","melanoma","NULL"]
["TRPV5","melanoma","NULL"]
["TRRAP","melanoma","NULL"]
["TSC1","melanoma","NULL"]
["TSEN34","melanoma","NULL"]
["TSHR","melanoma","NULL"]
["TSHZ3","melanoma","NULL"]
["TSKS","melanoma","NULL"]
["TSPAN8","melanoma","NULL"]
["TSPEAR","melanoma","NULL"]
["TSSK2","melanoma","NULL"]
["TSTA3","melanoma","NULL"]
["TTBK2","melanoma","NULL"]
["TTC1","melanoma","NULL"]
["TTC19","melanoma","NULL"]
["TTC3","melanoma","NULL"]
["TTC7A","melanoma","NULL"]
["TTL","melanoma","NULL"]
["TTLL1","melanoma","NULL"]
["TTLL2","melanoma","NULL"]
["TTLL4","melanoma","NULL"]
["TTLL9","melanoma","NULL"]
["TTN","melanoma","NULL"]
["TUB","melanoma","NULL"]
["TUBA3C","melanoma","NULL"]
["TUBA3E","melanoma","NULL"]
["TUBAL3","melanoma","NULL"]
["TUBB2A","melanoma","NULL"]
["TUBB2B","melanoma","NULL"]
["TUBGCP5","melanoma","NULL"]
["TUBGCP6","melanoma","NULL"]
["TUFT1","melanoma","NULL"]
["TULP2","melanoma","NULL"]
["TUSC5","melanoma","NULL"]
["TYRP1","melanoma","NULL"]
["TYW1","melanoma","NULL"]
["UACA","melanoma","NULL"]
["UAP1","melanoma","NULL"]
["UBAC1","melanoma","NULL"]
["UBB","melanoma","NULL"]
["UBE2D1","melanoma","NULL"]
["UBE4B","melanoma","NULL"]
["UBN2","melanoma","NULL"]
["UBQLNL","melanoma","NULL"]
["UBR4","melanoma","NULL"]
["UBR5","melanoma","NULL"]
["UBXN4","melanoma","NULL"]
["UBXN6","melanoma","NULL"]
["UCHL1","melanoma","NULL"]
["UGDH","melanoma","NULL"]
["UGT2A3","melanoma","NULL"]
["UGT2B11","melanoma","NULL"]
["UGT2B28","melanoma","NULL"]
["UGT2B4","melanoma","NULL"]
["UGT2B7","melanoma","NULL"]
["UGT3A2","melanoma","NULL"]
["UGT8","melanoma","NULL"]
["ULK1","melanoma","NULL"]
["ULK2","melanoma","NULL"]
["ULK4","melanoma","NULL"]
["UMOD","melanoma","NULL"]
["UMODL1","melanoma","NULL"]
["UNC119B","melanoma","NULL"]
["UNC13B","melanoma","NULL"]
["UNC13D","melanoma","NULL"]
["UNC5A","melanoma","NULL"]
["UNC5D","melanoma","NULL"]
["UNC79","melanoma","NULL"]
["UNCX","melanoma","NULL"]
["UPF3A","melanoma","NULL"]
["UPK2","melanoma","NULL"]
["USH1G","melanoma","NULL"]
["USH2A","melanoma","NULL"]
["USP17L2","melanoma","NULL"]
["USP2","melanoma","NULL"]
["USP31","melanoma","NULL"]
["USP34","melanoma","NULL"]
["USP37","melanoma","NULL"]
["USP47","melanoma","NULL"]
["USP5","melanoma","NULL"]
["USP53","melanoma","NULL"]
["USP6","melanoma","NULL"]
["USPL1","melanoma","NULL"]
["VAC14","melanoma","NULL"]
["VANGL2","melanoma","NULL"]
["VARS","melanoma","NULL"]
["VCAN","melanoma","NULL"]
["VCL","melanoma","NULL"]
["VDR","melanoma","NULL"]
["VEGFC","melanoma","NULL"]
["VIPR1","melanoma","NULL"]
["VPS13A","melanoma","NULL"]
["VPS13D","melanoma","NULL"]
["VPS16","melanoma","NULL"]
["VPS33A","melanoma","NULL"]
["VPS36","melanoma","NULL"]
["VPS39","melanoma","NULL"]
["VPS41","melanoma","NULL"]
["VPS45","melanoma","NULL"]
["VPS52","melanoma","NULL"]
["VRK3","melanoma","NULL"]
["VWA3B","melanoma","NULL"]
["VWA8","melanoma","NULL"]
["VWDE","melanoma","NULL"]
["VWF","melanoma","NULL"]
["WAPAL","melanoma","NULL"]
["WBSCR17","melanoma","NULL"]
["WDHD1","melanoma","NULL"]
["WDR16","melanoma","NULL"]
["WDR17","melanoma","NULL"]
["WDR18","melanoma","NULL"]
["WDR36","melanoma","NULL"]
["WDR38","melanoma","NULL"]
["WDR49","melanoma","NULL"]
["WDR61","melanoma","NULL"]
["WDR63","melanoma","NULL"]
["WDR64","melanoma","NULL"]
["WDR65","melanoma","NULL"]
["WDR66","melanoma","NULL"]
["WDR7","melanoma","NULL"]
["WDR72","melanoma","NULL"]
["WDR81","melanoma","NULL"]
["WDR91","melanoma","NULL"]
["WDR96","melanoma","NULL"]
["WDTC1","melanoma","NULL"]
["WDYHV1","melanoma","NULL"]
["WFDC3","melanoma","NULL"]
["WFIKKN2","melanoma","NULL"]
["WHSC1","melanoma","NULL"]
["WIF1","melanoma","NULL"]
["WIPF1","melanoma","NULL"]
["WNK2","melanoma","NULL"]
["WNT10A","melanoma","NULL"]
["WNT10B","melanoma","NULL"]
["WNT2","melanoma","NULL"]
["WNT2B","melanoma","NULL"]
["WNT8A","melanoma","NULL"]
["WNT9A","melanoma","NULL"]
["WRN","melanoma","NULL"]
["WWC1","melanoma","NULL"]
["WWC2","melanoma","NULL"]
["WWTR1","melanoma","NULL"]
["XDH","melanoma","NULL"]
["XIRP1","melanoma","NULL"]
["XIRP2","melanoma","NULL"]
["XKR3","melanoma","NULL"]
["XKR6","melanoma","NULL"]
["XKR7","melanoma","NULL"]
["XKR9","melanoma","NULL"]
["XPO1","melanoma","NULL"]
["XPO5","melanoma","NULL"]
["XRCC4","melanoma","NULL"]
["XRN2","melanoma","NULL"]
["YARS","melanoma","NULL"]
["YTHDC2","melanoma","NULL"]
["YTHDF2","melanoma","NULL"]
["YY1AP1","melanoma","NULL"]
["ZBED4","melanoma","NULL"]
["ZBTB1","melanoma","NULL"]
["ZBTB11","melanoma","NULL"]
["ZBTB16","melanoma","NULL"]
["ZBTB18","melanoma","NULL"]
["ZBTB20","melanoma","NULL"]
["ZBTB21","melanoma","NULL"]
["ZBTB32","melanoma","NULL"]
["ZBTB4","melanoma","NULL"]
["ZBTB49","melanoma","NULL"]
["ZBTB7A","melanoma","NULL"]
["ZC3H14","melanoma","NULL"]
["ZC3H15","melanoma","NULL"]
["ZC3H18","melanoma","NULL"]
["ZC3H4","melanoma","NULL"]
["ZC3H7A","melanoma","NULL"]
["ZCCHC11","melanoma","NULL"]
["ZCCHC7","melanoma","NULL"]
["ZCRB1","melanoma","NULL"]
["ZDHHC11","melanoma","NULL"]
["ZDHHC4","melanoma","NULL"]
["ZFC3H1","melanoma","NULL"]
["ZFHX3","melanoma","NULL"]
["ZFP2","melanoma","NULL"]
["ZFP37","melanoma","NULL"]
["ZFP42","melanoma","NULL"]
["ZFP57","melanoma","NULL"]
["ZFP82","melanoma","NULL"]
["ZFYVE1","melanoma","NULL"]
["ZFYVE19","melanoma","NULL"]
["ZFYVE20","melanoma","NULL"]
["ZFYVE28","melanoma","NULL"]
["ZFYVE9","melanoma","NULL"]
["ZHX3","melanoma","NULL"]
["ZIK1","melanoma","NULL"]
["ZIM3","melanoma","NULL"]
["ZMAT4","melanoma","NULL"]
["ZMIZ1","melanoma","NULL"]
["ZMYND19","melanoma","NULL"]
["ZNF10","melanoma","NULL"]
["ZNF117","melanoma","NULL"]
["ZNF133","melanoma","NULL"]
["ZNF142","melanoma","NULL"]
["ZNF148","melanoma","NULL"]
["ZNF197","melanoma","NULL"]
["ZNF208","melanoma","NULL"]
["ZNF214","melanoma","NULL"]
["ZNF221","melanoma","NULL"]
["ZNF229","melanoma","NULL"]
["ZNF239","melanoma","NULL"]
["ZNF250","melanoma","NULL"]
["ZNF254","melanoma","NULL"]
["ZNF257","melanoma","NULL"]
["ZNF263","melanoma","NULL"]
["ZNF280D","melanoma","NULL"]
["ZNF285","melanoma","NULL"]
["ZNF300","melanoma","NULL"]
["ZNF318","melanoma","NULL"]
["ZNF324B","melanoma","NULL"]
["ZNF329","melanoma","NULL"]
["ZNF331","melanoma","NULL"]
["ZNF335","melanoma","NULL"]
["ZNF343","melanoma","NULL"]
["ZNF354A","melanoma","NULL"]
["ZNF354B","melanoma","NULL"]
["ZNF365","melanoma","NULL"]
["ZNF383","melanoma","NULL"]
["ZNF385D","melanoma","NULL"]
["ZNF391","melanoma","NULL"]
["ZNF423","melanoma","NULL"]
["ZNF430","melanoma","NULL"]
["ZNF439","melanoma","NULL"]
["ZNF441","melanoma","NULL"]
["ZNF451","melanoma","NULL"]
["ZNF462","melanoma","NULL"]
["ZNF479","melanoma","NULL"]
["ZNF483","melanoma","NULL"]
["ZNF500","melanoma","NULL"]
["ZNF507","melanoma","NULL"]
["ZNF519","melanoma","NULL"]
["ZNF528","melanoma","NULL"]
["ZNF532","melanoma","NULL"]
["ZNF536","melanoma","NULL"]
["ZNF556","melanoma","NULL"]
["ZNF560","melanoma","NULL"]
["ZNF565","melanoma","NULL"]
["ZNF569","melanoma","NULL"]
["ZNF570","melanoma","NULL"]
["ZNF578","melanoma","NULL"]
["ZNF585A","melanoma","NULL"]
["ZNF592","melanoma","NULL"]
["ZNF594","melanoma","NULL"]
["ZNF599","melanoma","NULL"]
["ZNF615","melanoma","NULL"]
["ZNF626","melanoma","NULL"]
["ZNF627","melanoma","NULL"]
["ZNF644","melanoma","NULL"]
["ZNF649","melanoma","NULL"]
["ZNF679","melanoma","NULL"]
["ZNF681","melanoma","NULL"]
["ZNF69","melanoma","NULL"]
["ZNF708","melanoma","NULL"]
["ZNF71","melanoma","NULL"]
["ZNF711","melanoma","NULL"]
["ZNF717","melanoma","NULL"]
["ZNF721","melanoma","NULL"]
["ZNF765","melanoma","NULL"]
["ZNF777","melanoma","NULL"]
["ZNF799","melanoma","NULL"]
["ZNF804A","melanoma","NULL"]
["ZNF804B","melanoma","NULL"]
["ZNF827","melanoma","NULL"]
["ZNF831","melanoma","NULL"]
["ZNF880","melanoma","NULL"]
["ZNF90","melanoma","NULL"]
["ZNF98","melanoma","NULL"]
["ZP4","melanoma","NULL"]
["ZPBP","melanoma","NULL"]
["ZPLD1","melanoma","NULL"]
["ZSCAN18","melanoma","NULL"]
["ZSCAN29","melanoma","NULL"]
["ZSCAN31","melanoma","NULL"]
["ZSCAN5A","melanoma","NULL"]
["ZSCAN5B","melanoma","NULL"]
["ZSWIM1","melanoma","NULL"]
["ZSWIM2","melanoma","NULL"]
["ZUFSP","melanoma","NULL"]
["XRCC3","melanoma  association with"]
["CDKN2A","melanoma  increased risk  association with"]
["POLH","melanoma  increased risk  association with"]
["POLH","melanoma  predisposition to"]
["VDR","melanoma  susceptibility  association with"]
["MITF","melanoma / renal cell carcinoma  association with"]
["CDK4","melanoma, cutaneous malignant 3"]
["MC1R","melanoma, cutaneous malignant 5"]
["XRCC3","melanoma, cutaneous malignant 6"]
["MITF","melanoma, cutaneous malignant 8"]
["TYR","melanoma, cutaneous malignant 8"]
["CDKN2A","melanoma, cutaneous malignant, 2, susceptibility to"]
["BRAF","melanoma, malignant, somatic"]
["SIX1","melnick-fraser syndrome"]
["CFH","membranoproliferative glomerulonephritis  association"]
["CFHR5","membranoproliferative glomerulonephritis  association with"]
["CFI","membranoproliferative glomerulonephritis  type i"]
["PLA2R1","membranous nephropathy  association with"]
["BDNF","memory impairment, susceptibility to"]
["RET","men2 phenotype: unclassified"]
["RET","men2 phenotype: unknown"]
["RET","men2a and fmtc"]
["RET","men2a and unclassified"]
["KCNE3","meniere's disease  association with"]
["TIRAP","meningeal tuberculosis  susceptibility  association with"]
["PTEN","meningioma"]
["SUFU","meningioma, familial"]
["NF2","meningioma, somatic"]
["TLR2","meningococcal disease  reduced risk  association with"]
["ATP7A","menkes syndrome  atypical"]
["FSHR","menstrual cycle  length  association with"]
["CDKL5","mental disability  hypotonia  and intractable epilepsy"]
["CDK5R1","mental retardation"]
["ANKH","mental retardation  deafness  ankylosis & hypophosphatemia"]
["POU1F1","mental retardation  in women  association with"]
["CASK","mental retardation  microcephaly & pontocerebellar hypoplasia"]
["SLC6A8","mental retardation  mild"]
["RPS6KA3","mental retardation  non-specific"]
["GDI1","mental retardation  non-specific  x-linked"]
["CRADD","mental retardation  non-syndromic"]
["SYNGAP1","mental retardation  non-syndromic"]
["CRBN","mental retardation  non-syndromic  autosomal recessive"]
["PRSS12","mental retardation  non-syndromic  autosomal recessive"]
["TECR","mental retardation  non-syndromic  autosomal recessive"]
["TRAPPC9","mental retardation  non-syndromic  autosomal recessive"]
["TUSC3","mental retardation  non-syndromic  autosomal recessive"]
["CASK","mental retardation  nystagmus & microcephaly"]
["AGTR2","mental retardation  pervasive developmental disorder  and epilepsy"]
["CNTNAP2","mental retardation  pitt-hopkins-like"]
["NRXN1","mental retardation  pitt-hopkins-like"]
["ACSL4","mental retardation  x-linked"]
["AGTR2","mental retardation  x-linked"]
["ARHGEF6","mental retardation  x-linked"]
["ATRX","mental retardation  x-linked"]
["BRWD3","mental retardation  x-linked"]
["CASK","mental retardation  x-linked"]
["CDKL5","mental retardation  x-linked"]
["CUL4B","mental retardation  x-linked"]
["DMD","mental retardation  x-linked"]
["EFHC2","mental retardation  x-linked"]
["EIF2S3","mental retardation  x-linked"]
["ELK1","mental retardation  x-linked"]
["FGD1","mental retardation  x-linked"]
["FLNA","mental retardation  x-linked"]
["GRIA3","mental retardation  x-linked"]
["HUWE1","mental retardation  x-linked"]
["IL1RAPL1","mental retardation  x-linked"]
["KDM5C","mental retardation  x-linked"]
["MECP2","mental retardation  x-linked"]
["MED12","mental retardation  x-linked"]
["OPHN1","mental retardation  x-linked"]
["PLP2","mental retardation  x-linked"]
["PQBP1","mental retardation  x-linked"]
["RAB39B","mental retardation  x-linked"]
["SHROOM4","mental retardation  x-linked"]
["SLC16A2","mental retardation  x-linked"]
["SLC9A6","mental retardation  x-linked"]
["SMS","mental retardation  x-linked"]
["SYP","mental retardation  x-linked"]
["TSPAN7","mental retardation  x-linked"]
["UBE2A","mental retardation  x-linked"]
["ZDHHC9","mental retardation  x-linked"]
["ZNF674","mental retardation  x-linked"]
["ZNF711","mental retardation  x-linked"]
["ZNF81","mental retardation  x-linked"]
["PLP2","mental retardation  x-linked  association with"]
["SLC9A6","mental retardation  x-linked  christianson type"]
["ATP6AP2","mental retardation and epilepsy  x-linked"]
["OPHN1","mental retardation syndrome  x-linked"]
["PAK3","mental retardation syndrome  x-linked"]
["OPHN1","mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance"]
["SMARCA4","mental retardation, autosomal dominant 16"]
["PACS1","mental retardation, autosomal dominant 17"]
["GATAD2B","mental retardation, autosomal dominant 18"]
["CTNNB1","mental retardation, autosomal dominant 19"]
["GRIN2B","mental retardation, autosomal dominant 6"]
["TECR","mental retardation, autosomal recessive 14"]
["IQSEC2","mental retardation, x-linked 18"]
["BRWD3","mental retardation, x-linked 93"]
["SYP","mental retardation, x-linked 96"]
["IQSEC2","mental retardation, x-linked, nonspecific"]
["HSD17B10","mental retardation, x-linked, syndromic 10"]
["AP1S2","mental retardation, x-linked, syndromic, fried type"]
["ATP6AP2","mental retardation, x-linked, syndromic, hedera type"]
["ZDHHC9","mental retardation, x-linked, syndromic, raymond type"]
["GRIA3","mental retardation, x-linked, syndromic, wu type"]
["ATRX","mental retardation-hypotonic facies syndrome, x-linked"]
["CYP2C19","mephenytoin, poor metabolism of"]
["MPST","mercaptopyruvate sulphurtransferase deficiency  association with"]
["GSN","meretoja syndrome"]
["SDHD","merkel cell carcinoma, somatic"]
["WT1","mesothelioma, somatic"]
["BAP1","mesothelioma/uveal melanoma"]
["CFTR","metabolic alkalosis"]
["LRP6","metabolic syndrome"]
["FTO","metabolic syndrome  association with"]
["LMNA","metabolic syndrome  association with"]
["SCG3","metabolic syndrome  association with"]
["SIRT3","metabolic syndrome  association with"]
["STEAP4","metabolic syndrome  association with"]
["APOL6","metabolic syndrome  increased risk"]
["CD36","metabolic syndrome  reduced risk  association with"]
["RGS2","metabolic syndrome  susceptibility  association"]
["PYY","metabolic syndrome traits  association with"]
["MTTP","metabolic syndrome, protection against"]
["GHRL","metabolic syndrome, susceptibility to"]
["ARSA","metachromatic leukodystrophy, adult type"]
["ARSA","metachromatic leukodystrophy, juvenile type"]
["ARSA","metachromatic leukodystrophy, late infantile"]
["ARSA","metachromatic leukodystrophy, late-onset"]
["ARSA","metachromatic leukodystrophy, mild"]
["ARSA","metachromatic leukodystrophy, severe"]
["MMP13","metaphyseal anadysplasia 1, autosomal dominant"]
["MMP13","metaphyseal anadysplasia 1, autosomal recessive"]
["MMP9","metaphyseal anadysplasia 2, autosomal recessive"]
["COL10A1","metaphyseal chondrodysplasia  schmid"]
["IDH1","metaphyseal chondromatosis with increased urinary excretion of d-2-hydroxyglutarate"]
["PTH1R","metaphyseal dysplasia  jansen"]
["CYB5R3","methemoglobinemia type 2"]
["MAT1A","methionine adenosyltransferase deficiency, autosomal dominant"]
["MAT1A","methionine adenosyltransferase deficiency, autosomal recessive"]
["MAT1A","methionine adenosyltransferase i/iii deficiency"]
["ABCC2","methotrexate elimination  impaired"]
["ALDH6A1","methylmalonate semialdehyde dehydrogenase deficiency"]
["HCFC1","methylmalonic acidemia and hyperhomocysteinemia  combined"]
["MMADHC","methylmalonic acidemia with homocystinuria cbld"]
["MMAB","methylmalonic aciduria  cblb type"]
["MMADHC","methylmalonic aciduria  cbld type"]
["MMACHC","methylmalonic aciduria & homocystinuria  cblc type"]
["MMADHC","methylmalonic aciduria & homocystinuria  cbld type"]
["LMBRD1","methylmalonic aciduria & homocystinuria  cblf type"]
["ABCD4","methylmalonic aciduria and homocystinuria, cblj type"]
["MMAA","methylmalonic aciduria cbla type"]
["MUT","methylmalonic aciduria, mut"]
["FGF3","michel aplasia  microtia & microdontia"]
["NAT8","microalbuminuria and dysplastic kidney"]
["PLA2R1","microalbuminuria and dysplastic kidney"]
["AGER","microangiopathy in type 2 diabetes  association"]
["RNU4ATAC","microcephalic primordial dwarfism  type i"]
["TUBB","microcephaly"]
["NDE1","microcephaly  agenesis of the corpus callosum  scalp rugae & foetal brain disruption"]
["TUBB2B","microcephaly  corpus callosum agenesis  schizencephaly  polymicrogyria  and vermis & right third nerve hypoplasia"]
["ASNS","microcephaly  intellectual disability  cerebral atrophy & intractable seizures"]
["KIF11","microcephaly  lymphoedema & chorioretinopathy"]
["CASK","microcephaly  mental retardation  brainstem & cerebellar hypoplasia"]
["DNM1L","microcephaly  optic atrophy and hypoplasia  lactic acidemia"]
["AP4M1","microcephaly  paraplegia"]
["ATR","microcephaly  primary"]
["CASC5","microcephaly  primary"]
["WDR62","microcephaly  primary"]
["CEP63","microcephaly  primary  autosomal recessive"]
["WDR62","microcephaly  primary autosomal recessive 2"]
["PNKP","microcephaly  seizures & developmental delay"]
["MRE11A","microcephaly  severe"]
["EFTUD2","microcephaly  tetralogy of fallot  heart defect & cleft soft palate"]
["TAF2","microcephaly  thin corpus callosum  id syndrome"]
["ZNF335","microcephaly 10, primary, autosomal recessive"]
["PHC1","microcephaly 11, primary, autosomal recessive"]
["CEP152","microcephaly 9, primary, autosomal recessive"]
["IER3IP1","microcephaly with simplified gyration  epilepsy & diabetes"]
["ADAMTS18","microcornea  myopic chorioretinal atrophy and telecanthus"]
["ADAMTS18","microcornea, myopic chorioretinal atrophy, and telecanthus"]
["SRD5A2","micropenis"]
["ALDH1A3","microphthalmia"]
["SIX6","microphthalmia"]
["VSX2","microphthalmia  bilateral & coloboma"]
["VSX2","microphthalmia  cataract and iris abnormality"]
["C12orf57","microphthalmia  colobomatous"]
["FOXE3","microphthalmia  nonsyndromic bilateral"]
["HCCS","microphthalmia  syndromic 7"]
["STRA6","microphthalmia  syndromic 9"]
["RARB","microphthalmia and diaphragmatic hernia"]
["SOX2","microphthalmia syndromic 3"]
["OTX2","microphthalmia syndromic 5"]
["BMP4","microphthalmia syndromic 6"]
["HCCS","microphthalmia syndromic 7"]
["STRA6","microphthalmia syndromic 9"]
["BCOR","microphthalmia with associated anomalies"]
["VSX2","microphthalmia, cataracts, and iris abnormalities"]
["VSX2","microphthalmia, isolated 2"]
["PRSS56","microphthalmia, isolated 6"]
["ALDH1A3","microphthalmia, isolated 8"]
["GDF3","microphthalmia, isolated, with coloboma 6"]
["HCCS","microphthalmia, syndromic, 7"]
["MTTP","microsomal triglyceride transfer protein deficiency  mild"]
["VEGFA","microvascular complications of diabetes 1"]
["PON1","microvascular complications of diabetes 5"]
["HFE","microvascular complications of diabetes 7"]
["EDNRA","migraine  association with"]
["HRH3","migraine  association with"]
["NOTCH4","migraine duration  association with"]
["NOTCH4","migraine severity  association with"]
["CACNA1A","migraine, sporadic hemiplegic"]
["CACNA1A","migraine, sporadic hemiplegic, with progressive cerebellar ataxia"]
["SCN2A","migrating focal seizures of infancy"]
["NCR3","mild malaria  increased risk  association with"]
["PAH","mild non-pku hyperphenylalanemia"]
["NR0B1","mineralocorticoid deficiency, isolated"]
["RYR1","minicore myopathy with external ophthalmoplegia"]
["DCC","mirror movements  congenital"]
["RAD51","mirror movements  congenital"]
["RAD51","mirror movements 2"]
["HLA-G","miscarriage  association with"]
["HLA-G","miscarriage  increased risk  association with"]
["HMGCS2","mitochondrial 3-hydroxy-3-methylglutaryl-coa synthase deficiency"]
["AARS2","mitochondrial cardiomyopathy  infantile"]
["MRPL44","mitochondrial cardiomyopathy  infantile"]
["NDUFAF5","mitochondrial complex i deficiency"]
["UQCRQ","mitochondrial complex iii deficiency, nuclear type 4"]
["UQCRC2","mitochondrial complex iii deficiency, nuclear type 5"]
["ATP5A1","mitochondrial complex v"]
["PARL","mitochondrial content  association with"]
["TRMU","mitochondrial deafness  modifier of"]
["POLG","mitochondrial diseases"]
["MPV17","mitochondrial dna depletion syndrome  hepatic"]
["POLG","mitochondrial dna depletion syndrome  hepatic"]
["MPV17","mitochondrial dna depletion syndrome  hepatocerebral"]
["POLG","mitochondrial dna depletion syndrome  hepatocerebral"]
["AGK","mitochondrial dna depletion syndrome  myopathic"]
["POLG","mitochondrial dna depletion syndrome  myopathic"]
["RRM2B","mitochondrial dna depletion syndrome  myopathic"]
["TYMP","mitochondrial dna depletion syndrome 1"]
["MGME1","mitochondrial dna depletion syndrome 11"]
["SLC25A4","mitochondrial dna depletion syndrome 12"]
["FBXL4","mitochondrial dna depletion syndrome 13"]
["TK2","mitochondrial dna depletion syndrome 2"]
["POLG","mitochondrial dna depletion syndrome 4b, mngie type"]
["SUCLA2","mitochondrial dna depletion syndrome 5"]
["C10orf2","mitochondrial dna depletion syndrome 7"]
["RRM2B","mitochondrial dna depletion syndrome 8b"]
["RRM2B","mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy"]
["C10orf2","mitochondrial dna-depletion syndrome 3, hepatocerebral"]
["DGUOK","mitochondrial dna-depletion syndrome 3, hepatocerebral"]
["AIFM1","mitochondrial encephalomyopathy  x-linked"]
["FBXL4","mitochondrial encephalopathy  early-onset"]
["FARS2","mitochondrial encephalopathy  fatal infantile alpers"]
["ATP5A1","mitochondrial encephalopathy  fatal neonatal"]
["FOXRED1","mitochondrial encephalopathy  infantile-onset"]
["POLG","mitochondrial neurogastrointestinal encephalomyopathy syndrome"]
["SFXN4","mitochondriopathy"]
["SFXN4","mitochondriopathy and macrocytic anaemia"]
["XRCC3","mitomycin-c resistance"]
["ANO5","miyoshi distal myopathy"]
["ANO5","miyoshi muscular dystrophy 3"]
["ANO5","miyoshi myopathy  non-dysferlin"]
["GYPA","mns antigen  absence"]
["LMNA","modulated interaction with nesprin-2"]
["MAOA","monoamine oxidase a deficiency"]
["IRF8","monocyte and dendritic cell deficiency, autosomal recessive"]
["C5orf42","monomelic amyotrophy  association with"]
["KIAA1377","monomelic amyotrophy  association with"]
["BDNF","mood disorder  association with"]
["AVPR1B","mood disorders  reduced risk of childhood-onset  association with"]
["SLC6A3","mood instability in bipolar disorder patients  association with"]
["PPARG","morbid obesity"]
["POMT1","motor disability  microcephaly  mental retardation"]
["DCTN1","motor neuron disease  lower"]
["FUS","motor neuron disease  lower"]
["ATP7A","motor neuropathy  distal hereditary"]
["TRPV4","motor neuropathy  distal hereditary"]
["GARS","motor neuropathy  distal hereditary  type v"]
["ACTA2","moyamoya disease 5"]
["MSH2","msh2 polymorphism"]
["MTHFR","mthfr deficiency, thermolabile type"]
["TRAF3IP2","mucocutaneous candidiasis"]
["GNPTAB","mucolipidosis  intermediate"]
["GNPTAB","mucolipidosis iia/b"]
["GNPTAB","mucolipidosis iii alpha/beta, atypical"]
["ARSB","mucopolysaccharidosis type vi"]
["ARSB","mucopolysaccharidosis type vi, intermediate"]
["ARSB","mucopolysaccharidosis type vi, mild"]
["ARSB","mucopolysaccharidosis type vi, severe"]
["GUSB","mucopolysaccharidosis type vii"]
["GNPTAB","mucopolysaccharidosis, mps-iii-a"]
["GLB1","mucopolysaccharidosis, mps-iv-b"]
["MSH2","muir-torr syndrome"]
["MRC1","multibacillary leprosy"]
["RET","multicystic dysplastic kidney"]
["NPHP3","multicystic-dysplastic kidneys  liver cysts & cardiac defects"]
["MYH7","multi-minicore disease with cardiac involvement"]
["MARS","multi-organ disorder"]
["NEIL2","multiple colorectal adenoma"]
["SALL1","multiple congenital anomalies  cns defects  cortical blindness  and absence of psychomotor development"]
["EBP","multiple congenital anomalies  x-linked"]
["PIGN","multiple congenital anomalies-hypotonia-seizures syndrome"]
["PIGT","multiple congenital anomalies-hypotonia-seizures syndrome 3"]
["TEK","multiple cutaneous and mucosal venous malformations"]
["FNIP1","multiple discoid fibromas"]
["CDKN2B","multiple endocrine neoplasia 1"]
["RET","multiple endocrine neoplasia, type 2a"]
["RET","multiple endocrine neoplasia, type 2b"]
["CDKN1B","multiple endocrine neoplasia, type 4"]
["RET","multiple endocrine neoplasia, type iia, with hirschsprung disease"]
["COMP","multiple epiphyseal dysplasia 1"]
["SLC26A2","multiple epiphyseal dysplasia 4"]
["MATN3","multiple epiphyseal dysplasia 5"]
["MATN3","multiple epiphyseal dysplasia, dominant"]
["FLCN","multiple fibrofolliculomas"]
["IBA57","multiple mitochondrial dysfunctions syndrome 3"]
["LIG4","multiple myeloma, resistance to"]
["FGFR3","multiple myeloma, somatic"]
["HSP90AB1","multiple organ dysfunction  after trauma  association with"]
["CHRNG","multiple pterygium syndrome escobar type"]
["SPP1","multiple sclerosis  age of onset  association with"]
["CASP9","multiple sclerosis  association with"]
["CD58","multiple sclerosis  association with"]
["HLA-DRB1","multiple sclerosis  association with"]
["IL7R","multiple sclerosis  association with"]
["IRF5","multiple sclerosis  association with"]
["METTL1","multiple sclerosis  association with"]
["MGAT1","multiple sclerosis  association with"]
["MOG","multiple sclerosis  association with"]
["NOS2","multiple sclerosis  association with"]
["TNFRSF1A","multiple sclerosis  association with"]
["CD6","multiple sclerosis  increased risk  association with"]
["CIITA","multiple sclerosis  increased risk  association with"]
["IL7R","multiple sclerosis  increased risk  association with"]
["C19orf48","multiple sclerosis  protection  association"]
["ACLY","multiple sclerosis  protection  association with"]
["NOTCH4","multiple sclerosis  protection  association with"]
["H6PD","multiple sclerosis  reduced risk  association with"]
["PSMB9","multiple sclerosis  reduced risk  association with"]
["CRYAB","multiple sclerosis  susceptibility  association with"]
["SPP1","multiple sclerosis  susceptibility  association with"]
["ZC3HAV1","multiple sclerosis  susceptibility  association with"]
["IFNG","multiple sclerosis  susceptibility in men  association"]
["TYK2","multiple sclerosis  susceptibility to"]
["HLA-DPB1","multiple sclerosis  susceptibility to  association with"]
["IFNAR2","multiple sclerosis  susceptibility to  association with"]
["CYP27B1","multiple sclerosis susceptibility"]
["TMEM39A","multiple sclerosis susceptibility  association with"]
["TNFRSF1A","multiple sclerosis, susceptibility to, 5"]
["PTCH1","multiple self-healing squamous epithelioma  modifer of"]
["APTX","multiple system atrophy  cerebellar type"]
["COQ2","multiple system atrophy  increased risk  association with"]
["AMPD1","muscle amp deaminase deficiency"]
["MYL2","muscle fibre disease  infantile  type 1  and cardiomypathy"]
["MSTN","muscle hypertrophy  gross"]
["ANKRD6","muscle response to training  association with"]
["DAG1","muscle-eye-brain disease-like phenotype"]
["CHKB","muscular dystrophy"]
["COL6A3","muscular dystrophy"]
["GOSR2","muscular dystrophy"]
["DMD","muscular dystrophy  becker"]
["DMD","muscular dystrophy  becker with cognitive impairment"]
["FKRP","muscular dystrophy  congenital"]
["ISPD","muscular dystrophy  congenital"]
["POMT1","muscular dystrophy  congenital"]
["POMT2","muscular dystrophy  congenital"]
["LAMA2","muscular dystrophy  congenital 1a"]
["LARGE","muscular dystrophy  congenital 1d"]
["POMT2","muscular dystrophy  congenital with mental retardation"]
["POMT1","muscular dystrophy  congenital/mental retardation"]
["DMD","muscular dystrophy  duchenne"]
["SGCB","muscular dystrophy  duchenne"]
["DMD","muscular dystrophy  duchenne/becker"]
["SGCA","muscular dystrophy  duchenne-like"]
["SGCB","muscular dystrophy  duchenne-like"]
["EMD","muscular dystrophy  emery-dreifuss"]
["FHL1","muscular dystrophy  emery-dreifuss"]
["LMNA","muscular dystrophy  emery-dreifuss"]
["SYNE1","muscular dystrophy  emery-dreifuss"]
["SYNE2","muscular dystrophy  emery-dreifuss"]
["LMNA","muscular dystrophy  emery-dreifuss  neurogenic"]
["FKTN","muscular dystrophy  fukuyama"]
["CRYAB","muscular dystrophy  hypertonic fatal infantile"]
["DMD","muscular dystrophy  intermediate"]
["LMNA","muscular dystrophy  lamin a/c-related"]
["C4orf41","muscular dystrophy  limb girdle"]
["CAPN3","muscular dystrophy  limb girdle"]
["CAV3","muscular dystrophy  limb girdle"]
["DAG1","muscular dystrophy  limb girdle"]
["DYSF","muscular dystrophy  limb girdle"]
["FKRP","muscular dystrophy  limb girdle"]
["FKTN","muscular dystrophy  limb girdle"]
["GMPPB","muscular dystrophy  limb girdle"]
["ISPD","muscular dystrophy  limb girdle"]
["LAMA2","muscular dystrophy  limb girdle"]
["LMNA","muscular dystrophy  limb girdle"]
["POMGNT1","muscular dystrophy  limb girdle"]
["POMT1","muscular dystrophy  limb girdle"]
["POMT2","muscular dystrophy  limb girdle"]
["SGCA","muscular dystrophy  limb girdle"]
["SGCB","muscular dystrophy  limb girdle"]
["SGCD","muscular dystrophy  limb girdle"]
["SGCG","muscular dystrophy  limb girdle"]
["FKTN","muscular dystrophy  limb girdle  late onset"]
["SGCA","muscular dystrophy  limb girdle  with cardiomyopathy"]
["DYSF","muscular dystrophy  limb girdle / miyoshi myopathy"]
["MYOT","muscular dystrophy  limb girdle 1a"]
["LMNA","muscular dystrophy  limb girdle 1b / isolated neck rigidity"]
["DNAJB6","muscular dystrophy  limb girdle 1d"]
["TNPO3","muscular dystrophy  limb girdle 1f"]
["DES","muscular dystrophy  limb girdle 2"]
["FKRP","muscular dystrophy  limb girdle 2"]
["SGCA","muscular dystrophy  limb girdle 2"]
["SGCD","muscular dystrophy  limb girdle 2"]
["CAPN3","muscular dystrophy  limb girdle 2a"]
["DYSF","muscular dystrophy  limb girdle 2b"]
["SGCG","muscular dystrophy  limb girdle 2c"]
["SGCA","muscular dystrophy  limb girdle 2d"]
["SGCG","muscular dystrophy  limb girdle 2d"]
["SGCA","muscular dystrophy  limb girdle 2d  late-onset"]
["SGCB","muscular dystrophy  limb girdle 2e"]
["SGCD","muscular dystrophy  limb girdle 2f"]
["TCAP","muscular dystrophy  limb girdle 2g"]
["TRIM32","muscular dystrophy  limb girdle 2h"]
["FKRP","muscular dystrophy  limb girdle 2i"]
["ANO5","muscular dystrophy  limb girdle 2l"]
["ISPD","muscular dystrophy  limb girdle with cerebellar involvement"]
["ISPD","muscular dystrophy  limb girdle with mental retardation"]
["POMT1","muscular dystrophy  limb girdle with mental retardation"]
["LMNA","muscular dystrophy  lmna-related"]
["CHKB","muscular dystrophy  mental retardation & enlarged mitochondria"]
["LAMA2","muscular dystrophy  merosin deficient"]
["SGCB","muscular dystrophy  progressive"]
["RYR1","muscular dystrophy  progressive axial"]
["CAV3","muscular dystrophy, limb-girdle, type 1c, autosomal recessive"]
["CAPN3","muscular dystrophy, limb-girdle, type 2a, amish"]
["SGCD","muscular dystrophy, limb-girdle, type 2f, digenic"]
["MUTYH","mutyh-associated polyposis"]
["PIG38","myasthenia gravis  adult-onset autoimmune"]
["CTLA4","myasthenia gravis  association with"]
["CHRNA1","myasthenia gravis  early onset  association with"]
["AGRN","myasthenia, limb-girdle, familial"]
["DOK7","myasthenia, limb-girdle, familial"]
["GFPT1","myasthenia, limb-girdle, with tubular aggregates"]
["LAMB2","myasthenic syndrome  congenital  synaptic"]
["CHRNE","myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency"]
["MUSK","myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency"]
["RAPSN","myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency"]
["DPAGT1","myasthenic syndrome, congenital, with tubular aggregates 2"]
["CHRNA1","myasthenic syndrome, slow-channel congenital"]
["CHRNB1","myasthenic syndrome, slow-channel congenital"]
["CHRND","myasthenic syndrome, slow-channel congenital"]
["CHRNE","myasthenic syndrome, slow-channel congenital"]
["CSTB","myclonic epilepsy of unverricht and lundborg"]
["IL12RB1","mycobacterial and salmonella infections, susceptibility to"]
["IL12RB1","mycobacterial disease  mendelian susceptibility to"]
["ISG15","mycobacterial disease  mendelian susceptibility to"]
["IL12RB1","mycobacterial infections, susceptibility to"]
["CYBB","mycobacteriosis  atypical"]
["IKBKG","mycobacteriosis  atypical  familial"]
["TIRAP","mycobacterium tuberculosis, protection against"]
["SP110","mycobacterium tuberculosis, susceptibility to"]
["TLR2","mycobacterium tuberculosis, susceptibility to"]
["IFNGR1","mycobacterium tuberculosis, susceptibility to infection by"]
["CSF3R","myelodysplastic syndrome  association with"]
["MPL","myelofibrosis with myeloid metaplasia, somatic"]
["JAK2","myelofibrosis, somatic"]
["FLT3","myeloid leukaemia  increased risk  association with"]
["CXCR4","myelokathexis, isolated"]
["NF1","myelomonocytic leukaemia  juvenile"]
["ENPP1","myelopathy"]
["JAK2","myeloproliferative neoplasms"]
["MYH9","myh9 related disorders"]
["CSF1R","myleoid malignancy  predisposition"]
["ADCY8","myocardial infarction"]
["ELANE","myocardial infarction"]
["ITGB3","myocardial infarction"]
["LTA","myocardial infarction"]
["OLR1","myocardial infarction"]
["PSMA6","myocardial infarction"]
["GP6","myocardial infarction  age related  association"]
["ABCC9","myocardial infarction  association with"]
["ARG1","myocardial infarction  association with"]
["BRAP","myocardial infarction  association with"]
["CD14","myocardial infarction  association with"]
["ENO1","myocardial infarction  association with"]
["FCAR","myocardial infarction  association with"]
["FXN","myocardial infarction  association with"]
["GCLM","myocardial infarction  association with"]
["GP1BA","myocardial infarction  association with"]
["ITGA2","myocardial infarction  association with"]
["ITIH3","myocardial infarction  association with"]
["MIA3","myocardial infarction  association with"]
["MIAT","myocardial infarction  association with"]
["OR13G1","myocardial infarction  association with"]
["PSMA6","myocardial infarction  association with"]
["ROS1","myocardial infarction  association with"]
["SORT1","myocardial infarction  association with"]
["TAS2R50","myocardial infarction  association with"]
["TBXAS1","myocardial infarction  association with"]
["THBS4","myocardial infarction  association with"]
["THPO","myocardial infarction  association with"]
["ZNF627","myocardial infarction  association with"]
["CRP","myocardial infarction  decreased risk  association with"]
["CDKN1B","myocardial infarction  increased risk  association"]
["GCLC","myocardial infarction  increased risk  association"]
["NR3C2","myocardial infarction  increased risk  association with"]
["SELP","myocardial infarction  lower risk  association"]
["F13A1","myocardial infarction  protection  association"]
["F7","myocardial infarction  protection  association"]
["THBS2","myocardial infarction  protection  association"]
["COL4A1","myocardial infarction  protection  association with"]
["TNFRSF4","myocardial infarction  protection against  association"]
["ANXA5","myocardial infarction  reduced risk  association"]
["TRPC4","myocardial infarction  reduced risk  association with"]
["F13B","myocardial infarction  risk  association with"]
["LGALS2","myocardial infarction  risk  association with"]
["LTA","myocardial infarction  susceptibility  association"]
["ABCC9","myocardial infarction 1"]
["LRP8","myocardial infarction 1"]
["BTN2A1","myocardial infarction in japanese  increased risk  association with"]
["F7","myocardial infarction, decreased susceptibility to"]
["F13A1","myocardial infarction, protection against"]
["SLC25A22","myoclinic epilepsy  neonatal"]
["SCN1A","myoclonic epilepsy  borderline"]
["TBC1D24","myoclonic epilepsy  infantile"]
["CACNA1G","myoclonic epilepsy  juvenile"]
["CACNB4","myoclonic epilepsy  juvenile"]
["EFHC1","myoclonic epilepsy  juvenile"]
["GABRA1","myoclonic epilepsy  juvenile"]
["CHRNA4","myoclonic epilepsy  juvenile  association with"]
["GJD2","myoclonic epilepsy  juvenile  association with"]
["POLG","myoclonic epilepsy myopathy sensory ataxia"]
["PPP1R3C","myoclonic epilepsy of lafora  modifier of"]
["TBC1D24","myoclonic epilepsy, infantile, familial"]
["EFHC1","myoclonic epilepsy, juvenile 1"]
["NOL3","myoclonus, familial cortical"]
["CRYAB","myofibrillar myopathy  cardiomyopathy & posterior polar cataract"]
["DES","myofibrillar myopathy 1"]
["BAG3","myofibrillar myopathy, bag3-related"]
["FLNC","myofibrillar myopathy, filamin c-related"]
["LDB3","myofibrillar myopathy, zasp-related"]
["NOTCH3","myofibromatosis  infantile"]
["PDGFRB","myofibromatosis  infantile"]
["NOTCH3","myofibromatosis, infantile, 2"]
["LPIN1","myoglobinuria  recurrent"]
["LPIN1","myoglobinuria, recurrent, autosomal recessive"]
["KCNA1","myokymia 1"]
["KCNA1","myokymia 1 with hypomagnesemia"]
["ANO5","myopathy"]
["COL6A1","myopathy"]
["COL6A2","myopathy"]
["COL6A3","myopathy"]
["GNE","myopathy"]
["LMNA","myopathy"]
["SGCD","myopathy"]
["GFER","myopathy  cataract & combined respiratory-chain deficiency"]
["MTMR14","myopathy  centronuclear"]
["RYR1","myopathy  centronuclear"]
["BIN1","myopathy  centronuclear  autosomal recessive"]
["ITGA7","myopathy  congenital"]
["RYR1","myopathy  congenital"]
["RYR1","myopathy  congenital with cores"]
["CRYAB","myopathy  desmin related"]
["DES","myopathy  desmin related"]
["MYF6","myopathy  dilatative"]
["GNE","myopathy  distal"]
["KIAA1354","myopathy  distal  early-onset"]
["MYH7","myopathy  distal  laing"]
["GNE","myopathy  distal  with rimmed vacuoles"]
["MYH7","myopathy  distal 1"]
["MYH2","myopathy  early onset"]
["LMNA","myopathy  early-onset and progeria"]
["C4orf41","myopathy  infantile hyperkinetic movements  ataxia  and intellectual disability"]
["LMNA","myopathy  infantile inflammatory"]
["CNTN1","myopathy  lethal congenital"]
["GNE","myopathy  limb-girdle"]
["MYH2","myopathy  myh2-related"]
["MYH7","myopathy  myh7-related"]
["CRYAB","myopathy  myofibrillar"]
["FLNC","myopathy  myofibrillar"]
["CRYAB","myopathy  myofibrillar  infantile-onset"]
["STAC3","myopathy  native american"]
["POLG","myopathy  polyneuropathy & ataxia"]
["RYR1","myopathy  progressive axial with cataracts"]
["VCP","myopathy  rimmed vacuolar"]
["RYR1","myopathy  ryr1-associated"]
["MEGF10","myopathy  with minicores"]
["C1orf69","myopathy and encephalopathy"]
["ANO5","myopathy of posterior calf muscles  late-onset"]
["STIM1","myopathy with tubular aggregates"]
["DNM2","myopathy, centronuclear, 1"]
["MYF6","myopathy, centronuclear, 3"]
["MTMR14","myopathy, centronuclear, autosomal dominant, modifier of"]
["MATR3","myopathy, distal, 2"]
["PUS1","myopathy, lactic acidosis, and sideroblastic anemia 1"]
["FHL1","myopathy, reducing body, x-linked, severe early-onset"]
["CPT2","myopathy, variable"]
["SCO2","myopia  high-grade"]
["CTSH","myopia  severe"]
["LRPAP1","myopia  severe"]
["ZNF644","myopia 21, autosomal dominant"]
["CAPN3","myositis, eosinophilic"]
["CLCN1","myotonia  becker"]
["CLCN1","myotonia  becker with prinzmetal angina pectoris & lipomatosis"]
["CLCN1","myotonia  generalised"]
["CLCN1","myotonia  non-dystrophic"]
["SCN4A","myotonia  non-dystrophic"]
["SCN4A","myotonia  potassium-aggravated"]
["CLCN1","myotonia  thomsen"]
["SCN4A","myotonia congenita, atypical, acetazolamide-responsive"]
["RYR1","myotonic dystrophy  type 1"]
["KIAA0428","myotonic dystrophy  type 1  association with"]
["KIAA0428","myotonic dystrophy  type 1  modifier of"]
["MTM1","myotubular myopathy with peliosis hepatis"]
["PRKAR1A","myxoma  intracardiac"]
["CYB5R3","nadh-cytochrome b5 reductase polymorphism"]
["FZD6","nail disorder, nonsyndromic congenital, 10"]
["COL7A1","nail disorder, nonsyndromic congenital, 8"]
["LMX1B","nail patella-like renal disease"]
["P2RY11","narcolepsy  association with"]
["HCRT","narcolepsy  early onset"]
["TLR4","nasopharyngeal cancer  increased risk  association with"]
["PLUNC","nasopharyngeal carcinoma  association with"]
["CCNE1","nasopharyngeal carcinoma  increased risk  association with"]
["MMP2","nasopharyngeal carcinoma  increased risk  association with"]
["TAP1","nasopharyngeal carcinoma  reduced risk  association with"]
["TP53","nasopharyngeal carcinoma, somatic"]
["NAT1","nat1*17 allele"]
["SCN5A","negative shift activation"]
["TNNT1","nemaline myopathy  amish type"]
["ACTA1","nemaline myopathy 3"]
["KBTBD13","nemaline myopathy 6"]
["KLHL40","nemaline myopathy 8"]
["PEX5","neonatal adrenoleucodystrophy"]
["ITGB3","neonatal alloimmune thrombocytopenic purpura  association with"]
["PDX1","neonatal diabetes mellitus"]
["MECP2","neonatal encephalopathy  severe"]
["SCN2A","neonatal epilepsy  late-onset ataxia  myoclonus & pain"]
["SLC25A13","neonatal intrahepatic cholestasis caused by citrin deficiency"]
["SFTPC","neonatal respiratory distress syndrome  assoc with"]
["SCN2A","neonatal-infantile seizures  benign familial"]
["LIAS","neonatal-onset epilepsy  muscular hypotonia  lactic acidosis & glycine elevation"]
["TSC2","neoplasm of brain"]
["TFRC","neoplastic disease  increased risk  association"]
["COL4A4","nephritis"]
["AVPR2","nephrogenic diabetes insipidus, x-linked"]
["CASR","nephrolithiasis  association with"]
["CLCN5","nephrolithiasis  hypercalciuric"]
["CLCN5","nephrolithiasis, x-linked recessive"]
["SLC34A1","nephrolithiasis/osteoporosis, hypophosphatemic, 1"]
["SLC9A3R1","nephrolithiasis/osteoporosis, hypophosphatemic, 2"]
["NPHP3","nephronophthisis  infantile"]
["TMEM67","nephronophthisis 11"]
["TTC21B","nephronophthisis 12"]
["CEP164","nephronophthisis 15"]
["ANKS6","nephronophthisis 16"]
["NEK8","nephronophthisis 9"]
["CEP290","nephronophthisis-related ciliopathy"]
["GLIS2","nephronophthisis-related ciliopathy"]
["INVS","nephronophthisis-related ciliopathy"]
["IQCB1","nephronophthisis-related ciliopathy"]
["KIAA1638","nephronophthisis-related ciliopathy"]
["NPHP1","nephronophthisis-related ciliopathy"]
["NPHP3","nephronophthisis-related ciliopathy"]
["NPHP4","nephronophthisis-related ciliopathy"]
["SDCCAG8","nephronophthisis-related ciliopathy"]
["TMEM67","nephronophthisis-related ciliopathy"]
["TTC21B","nephronophthisis-related ciliopathy"]
["WDR19","nephronophthisis-related ciliopathy"]
["CTGF","nephropathy  in type 1 diabetes  association with"]
["KNG1","nephropathy  reduced risk  association with"]
["WT1","nephrotic proteinuria"]
["MYO1E","nephrotic syndrome"]
["PTPRO","nephrotic syndrome  childhood-onset"]
["ITGA3","nephrotic syndrome  interstitial lung disease & skin fragility"]
["APOL1","nephrotic syndrome  steroid resistant"]
["COQ2","nephrotic syndrome  steroid resistant"]
["MYO1E","nephrotic syndrome  steroid resistant"]
["NPHS1","nephrotic syndrome  steroid resistant"]
["NPHS2","nephrotic syndrome  steroid resistant"]
["TRPC6","nephrotic syndrome  steroid resistant"]
["WT1","nephrotic syndrome  steroid resistant"]
["PLCE1","nephrotic syndrome 3  early onset"]
["NPHS2","nephrotic syndrome, type 2, susceptibility to"]
["LAMB2","nephrotic syndrome, type 5, with or without ocular abnormalities"]
["ARHGDIA","nephrotic syndrome, type 8"]
["SHMT1","neural tube defect"]
["MTHFD1","neural tube defect  association with"]
["CD320","neural tube defect  increased risk  association with"]
["MSX2","neural tube defect  increased risk  association with"]
["MTHFR","neural tube defect  increased risk  association with"]
["LMNB1","neural tube defects"]
["NKX2-8","neural tube defects  increased risk  association with"]
["MTHFD1","neural tube defects, folate-sensitive, susceptibility to"]
["MTRR","neural tube defects, folate-sensitive, susceptibility to"]
["SEPT9","neuritis with brachial predilection  napb"]
["PLA2G6","neuroaxonal dystrophy"]
["NAGA","neuroaxonal dystrophy  infantile"]
["PLA2G6","neuroaxonal dystrophy  infantile-onset"]
["PLA2G6","neuroaxonal dystrophy  juvenile-onset"]
["KIF1B","neuroblastoma 1"]
["PHOX2B","neuroblastoma 2"]
["ALK","neuroblastoma 3"]
["ALDH18A1","neurocutaneous syndrome  autosomal recessive"]
["FAAH","neurodegeneration"]
["UCHL1","neurodegeneration  progressive early-onset"]
["HIBCH","neurodegeneration  progressive infantile"]
["PANK2","neurodegeneration with brain iron accumulation 1, atypical"]
["PLA2G6","neurodegeneration with brain iron accumulation 2b"]
["UCHL1","neurodegeneration with optic atrophy, childhood-onset"]
["PDGFRA","neuroectodermal tumours  association with"]
["NF1","neurofibromatosis  spinal"]
["MSH6","neurofibromatosis  type 1"]
["MXI1","neurofibrosarcoma"]
["ACTA1","neuromuscular disorder"]
["MFSD8","neuronal ceroid lipofuscinoses  late infantile"]
["PPT1","neuronal ceroid lipofuscinosis  adult"]
["DNAJC5","neuronal ceroid lipofuscinosis  adult-onset"]
["CLN8","neuronal ceroid lipofuscinosis  early childhood"]
["CLN5","neuronal ceroid lipofuscinosis  finnish variant"]
["PPT1","neuronal ceroid lipofuscinosis  infantile"]
["CLN3","neuronal ceroid lipofuscinosis  juvenile"]
["CLN5","neuronal ceroid lipofuscinosis  juvenile"]
["PPT1","neuronal ceroid lipofuscinosis  juvenile"]
["TPP1","neuronal ceroid lipofuscinosis  juvenile"]
["CLN5","neuronal ceroid lipofuscinosis  late infantile"]
["CLN6","neuronal ceroid lipofuscinosis  late infantile"]
["CLN8","neuronal ceroid lipofuscinosis  late infantile"]
["CTSD","neuronal ceroid lipofuscinosis  late infantile"]
["PPT1","neuronal ceroid lipofuscinosis  late infantile"]
["TPP1","neuronal ceroid lipofuscinosis  late infantile"]
["CLN6","neuronal ceroid lipofuscinosis 4a  autosomal recessive"]
["ZNF224","neuropathology and cognition in alzheimer disease  association"]
["LRSAM1","neuropathy  axonal"]
["MPZ","neuropathy  axonal"]
["EGR2","neuropathy  congenital hypomyelinating"]
["DNAJB2","neuropathy  distal hereditary motor"]
["HSPB1","neuropathy  distal hereditary motor"]
["HSPB8","neuropathy  distal hereditary motor  type ii"]
["GDAP1","neuropathy  early onset"]
["MPZ","neuropathy  hereditary"]
["CSGALNACT1","neuropathy  hereditary motor and sensory"]
["NDRG1","neuropathy  hereditary motor and sensory  lom-type"]
["HK1","neuropathy  hereditary motor and sensory  russe type"]
["SPTLC1","neuropathy  hereditary sensory"]
["ATL1","neuropathy  hereditary sensory  type i"]
["SPTLC1","neuropathy  hereditary sensory  type i"]
["WNK1","neuropathy  hereditary sensory  type ii"]
["SCN9A","neuropathy  hereditary sensory  type iid"]
["REEP1","neuropathy  hereditary sensory  type v"]
["PMP22","neuropathy  liability to pressure palsies"]
["PRX","neuropathy  periaxin-related"]
["SACS","neuropathy  prominent sensorimotor"]
["SPTLC1","neuropathy hereditary sensory and autonomic type 1"]
["MPZ","neuropathy motor / sensory  intermediate"]
["GDAP1","neuropathy, axonal, with vocal cord paresis, autosomal recessive"]
["EGR2","neuropathy, congenital hypomyelinating, autosomal dominant"]
["MPZ","neuropathy, congenital hypomyelinating, autosomal dominant"]
["EGR2","neuropathy, congenital hypomyelinating, autosomal recessive"]
["SPTLC1","neuropathy, hereditary sensory and autonomic, type i, severe"]
["SPTLC2","neuropathy, hereditary sensory and autonomic, type ic, severe"]
["SPTLC2","neuropathy, hereditary sensory, type ic"]
["ATL1","neuropathy, hereditary sensory, type id"]
["DNMT1","neuropathy, hereditary sensory, type ie"]
["NPY","neuropeptide y polymorphism"]
["ELANE","neutropaenia  congenital"]
["G6PC3","neutropaenia  congenital"]
["GFI1","neutropaenia  congenital"]
["SBDS","neutropaenia  congenital"]
["ELANE","neutropaenia  cyclic"]
["VPS45","neutropaenia  neutrophil dysfunction  bone marrow fibrosis & nephromegaly"]
["GFI1","neutropaenia  severe chronic"]
["HAX1","neutropaenia  severe congenital"]
["WAS","neutropaenia  severe congenital  x-linked"]
["HAX1","neutropaenia  severe congenital with neurological symptoms"]
["VPS45","neutropaenia  thrombasthenia & myelofibrosis of infancy"]
["GFI1","neutropenia, nonimmune chronic idiopathic, of adults"]
["PTPN6","neutrophilic dermatosis  acute febrile"]
["FCGR3B","neutrophil-specific antigens na1/na2"]
["HRAS","nevus sebaceous, somatic"]
["KRAS","nevus sebaceous, somatic"]
["FGFR3","nevus, epidermal, somatic"]
["HRAS","nevus, epidermal, somatic"]
["KRAS","nevus, epidermal, somatic"]
["NRAS","nevus, epidermal, somatic"]
["PIK3CA","nevus, epidermal, somatic"]
["ANKK1","nicotine dependence  association with"]
["CHRNA3","nicotine dependence  association with"]
["CHRNA4","nicotine dependence  association with"]
["CHRNA5","nicotine dependence  association with"]
["DNM1","nicotine dependence  association with"]
["DRD1","nicotine dependence  association with"]
["FMO1","nicotine dependence  association with"]
["CHRNA3","nicotine dependence  reduced risk"]
["CHRNB4","nicotine dependence  reduced risk"]
["CYP2A6","nicotine, poor metabolism of"]
["NPC1","niemann-pick disease type c1"]
["NPC2","niemann-pick disease type c2"]
["SMPD1","niemann-pick disease, intermediate, protracted neurovisceral"]
["NPC1","niemann-pick disease, type c1, adult form"]
["NPC1","niemann-pick disease, type c1, juvenile form"]
["CABP4","night blindness  autosomal recessive"]
["GRM6","night blindness  congenital"]
["NYX","night blindness  congenital stationary"]
["SLC24A1","night blindness  congenital stationary"]
["CACNA1F","night blindness  congenital stationary  incomplete"]
["GPR179","night blindness  congenital stationary  type 1b"]
["NYX","night blindness  congenital stationary 1"]
["CACNA1F","night blindness  congenital stationary 2"]
["RHO","nightblindness  congenital stationary"]
["GNAT1","nightblindness  stationary"]
["PDE6B","nightblindness  stationary"]
["CACNA1F","nightblindness-associated transient tonic downgaze"]
["NYX","nightblindness-associated transient tonic downgaze"]
["AQP7","no exercise induced glycerol increase  association"]
["RET","no men2 disease"]
["CRH","nocturnal frontal lobe epilepsy  autosomal dominant"]
["KCNT1","nocturnal frontal lobe epilepsy  autosomal dominant"]
["KCNE1","noise-induced hearing loss  susceptibility to  association"]
["KCNQ4","noise-induced hearing loss  susceptibility to  association"]
["PNPLA3","nonalcoholic fatty liver disease  association with"]
["PEMT","non-alcoholic fatty liver disease  association with"]
["NCAN","nonalcoholic fatty liver disease  increased risk  association with"]
["IL12A","non-cardia gastric cancer  association with"]
["CFTR","nonclassic cystic fibrosis"]
["NPHS2","nondiabetic end-stage renal disease  association with"]
["MECP2","non-fatal  non-progressive encephalopathy"]
["NOS2","non-hodgkin lymphoma  increased risk  association with"]
["RAG1","non-hodgkin lymphoma  increased risk  association with"]
["TLR6","non-hodgkin lymphoma  increased risk  association with"]
["UNC84B","non-hodgkin lymphoma  increased risk  association with"]
["B3GNT3","non-hodgkin lymphoma  reduced risk  association with"]
["BAT2","non-hodgkin lymphoma  reduced risk  association with"]
["BRAF","non-hodgkin's lymphoma"]
["CASP10","non-hodgkin's lymphoma"]
["RAD54B","non-hodgkin's lymphoma"]
["SERPINB11","non-inhibitory variant"]
["ABCC2","non-response to antiepilepsy medication in epileptics  association"]
["BRAF","nonseminomatous germ cell tumors, somatic"]
["BRAF","non-small cell lung cancer"]
["EGFR","non-small cell lung cancer"]
["ERBB2","non-small cell lung cancer"]
["IRF1","non-small cell lung cancer"]
["KRAS","non-small cell lung cancer"]
["NRAS","non-small cell lung cancer"]
["PIK3CA","non-small cell lung cancer"]
["IL1B","non-small cell lung cancer  increased risk  association with"]
["EGFR","nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in"]
["EGFR","nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic"]
["ATM","non-small-cell lung cancer  association with"]
["FAM188A","non-small-cell lung cancer  increased risk  association with"]
["OTOR","non-syndromic hearing impairment  association with"]
["LHFPL5","nonsyndromic hearing loss  autosomal recessive"]
["COL11A2","non-syndromic hearing loss  autosomal recessive"]
["RAF1","noonan syndrome  atypical"]
["PTPN11","noonan syndrome 1"]
["BRAF","noonan syndrome 7"]
["CBL","noonan syndrome-like disorder with juvenile myelomonocytic leukemia"]
["CBL","noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"]
["SHOC2","noonan's syndrome"]
["A4GALT","nor polyagglutination"]
["OPA1","normal tension glaucoma  association with"]
["SCN4A","normokalemic periodic paralysis, potassium-sensitive"]
["FUT2","norwalk virus infection, resistance to"]
["NSDHL","nsdhl-related disorders"]
["NTHL1","nth endonuclease iii-like 1 deficiency"]
["ATPAF2","nuclearly-encoded mitochondrial complex v"]
["PNP","nucleoside phosphorylase polymorphism"]
["CYP2C18","null allele"]
["CYP4A22","null allele"]
["GLYAT","null allele"]
["MICA","null allele"]
["MICB","null allele"]
["UGT1A4","null allele"]
["DNASE1L3","null allele  association with"]
["FRMD7","nystagmus  infantile"]
["FRMD7","nystagmus  infantile periodic alternating"]
["GPR143","nystagmus  x-linked"]
["FRMD7","nystagmus  x-linked idiopathic congenital"]
["OAT","oat polymorphism"]
["ADRB3","obesity"]
["BBS1","obesity"]
["DKFZp434C1714","obesity"]
["ENPP1","obesity"]
["GHRL","obesity"]
["MC1R","obesity"]
["NUCB2","obesity"]
["PYY","obesity"]
["POMC","obesity  adrenal insufficiency and absence of red hair phenotype"]
["POMC","obesity  adrenal insufficiency and red hair"]
["ADIPOQ","obesity  association with"]
["ADRB2","obesity  association with"]
["AQP7","obesity  association with"]
["CARTPT","obesity  association with"]
["CIDEA","obesity  association with"]
["ENPP1","obesity  association with"]
["FTO","obesity  association with"]
["GAD2","obesity  association with"]
["GFPT1","obesity  association with"]
["H6PD","obesity  association with"]
["HSPA1B","obesity  association with"]
["INSIG2","obesity  association with"]
["MC3R","obesity  association with"]
["MCHR1","obesity  association with"]
["MKKS","obesity  association with"]
["NMU","obesity  association with"]
["NPY2R","obesity  association with"]
["NR1H3","obesity  association with"]
["PCSK1","obesity  association with"]
["PNPLA3","obesity  association with"]
["POMC","obesity  association with"]
["PPARG","obesity  association with"]
["PYY","obesity  association with"]
["SCG3","obesity  association with"]
["SDC3","obesity  association with"]
["SLC6A14","obesity  association with"]
["STEAP4","obesity  association with"]
["TBC1D1","obesity  association with"]
["MC4R","obesity  autosomal dominant"]
["MC4R","obesity  autosomal dominant  association with"]
["LEPR","obesity  childhood onset"]
["NMU","obesity  childhood onset"]
["PPARGC1B","obesity  decreased risk  association with"]
["GHRL","obesity  delayed onset  association with"]
["MC4R","obesity  early onset"]
["SIM1","obesity  early onset"]
["GHRL","obesity  early onset  association with"]
["LEPR","obesity  early-onset"]
["POMC","obesity  early-onset  association with"]
["NTRK2","obesity  hyperphagia  and developmental delay"]
["AGRP","obesity  late-onset  association with"]
["NUCB2","obesity  male  association with"]
["CPT1B","obesity  modifier of risk  association with"]
["LEPR","obesity  morbid"]
["PTPRF","obesity  reduced risk  association with"]
["UCP2","obesity  reduced risk  association with"]
["PLIN1","obesity  reduced risk in women  association with"]
["CARTPT","obesity  severe"]
["MC3R","obesity  severe"]
["MC4R","obesity  severe"]
["MRAP2","obesity  severe  early-onset"]
["SH2B1","obesity  severe  early-onset"]
["UCP3","obesity  severe  early-onset"]
["UCP3","obesity  severe  with diabetes"]
["NMB","obesity  susceptibility to  association with"]
["POMC","obesity & diabetes type 2  early-onset"]
["AGRP","obesity and diabetes  association with"]
["SORBS1","obesity and diabetes  reduced risk  association"]
["ADRB2","obesity and diabetes type 2  association with"]
["SOCS3","obesity and glucose homeostasis traits  association with"]
["KSR2","obesity and insulin resistance"]
["BCHE","obesity and triglyceride levels  association with"]
["PLIN4","obesity related phenotype modifer  association with"]
["GHRL","obesity, age at onset of"]
["SDC3","obesity, association with"]
["POMC","obesity, early-onset, susceptibility to"]
["AGRP","obesity, late-onset"]
["NR0B2","obesity, mild, early-onset"]
["PPARG","obesity, modifier of"]
["UCP3","obesity, severe, and type ii diabetes"]
["LEP","obesity, severe, due to leptin deficiency"]
["PPARGC1B","obesity, variation in"]
["SLC1A1","obsessive-compulsive disorder"]
["SLITRK1","obsessive-compulsive disorder"]
["NTRK3","obsessive-compulsive disorder  association with"]
["SLC6A4","obsessive-compulsive disorder  association with"]
["SLC6A4","obsessive-compulsive disorder  susceptibility  association"]
["BDNF","obsessive-compulsive disorder, protection against"]
["SLC6A4","obsessive-compulsive disorder, susceptibility to"]
["TYR","oca1-ts"]
["GPR143","ocular albinism, type i"]
["TYR","oculocutaneous albinism type 1a"]
["SLC45A2","oculocutaneous albinism type 4"]
["C10orf11","oculocutaneous albinism type 5"]
["MC1R","oculocutaneous albinism, type ii, modifier of"]
["GJA1","oculodentodigital dysplasia with primary lymphoedema"]
["FLT4","oedema  prenatal generalised"]
["FOXC2","oedema  prenatal generalised"]
["AURKA","oesophageal cancer  association with"]
["TMPRSS11A","oesophageal cancer  association with"]
["PTGS2","oesophageal cancer  risk  association with"]
["C20orf54","oesophageal squamous cell carcinoma  reduced risk  association with"]
["C20orf54","oesophageal squamous cell carcinoma  reduced risk  in non-smokers  association with"]
["SIPA1","oestrogen receptor negative tumours  association with"]
["MYST4","ohdo blepharophimosis syndrome  sbbys type"]
["MED12","ohdo syndrome"]
["SCN2A","ohtahara syndrome"]
["COL1A1","oi/eds combined syndrome"]
["OR10C1","olfactory receptor deficiency"]
["OR10X1","olfactory receptor deficiency"]
["OR12D2","olfactory receptor deficiency"]
["OR1B1","olfactory receptor deficiency"]
["OR1S1","olfactory receptor deficiency"]
["OR51G1","olfactory receptor deficiency"]
["OR52H1","olfactory receptor deficiency"]
["OR52N4","olfactory receptor deficiency"]
["OR5H6","olfactory receptor deficiency"]
["OR8K3","olfactory receptor deficiency"]
["IKBKG","ol-hed-id"]
["APOB","oligoasthenoteratozoospermia  association with"]
["NFE2L2","oligoasthenozoospermia  increased risk"]
["GLTSCR1","oligodendroglioma development  association with"]
["EDARADD","oligodontia"]
["PAX9","oligodontia  molar"]
["H2BFWT","oligospermia  association with"]
["PIWIL3","oligospermia  reduced risk  association with"]
["SLC45A2","olive skin colour in caucasians  association with"]
["MBTPS2","olmsted syndrome  x-linked"]
["GPC6","omodysplasia 1"]
["PITX2","omphalocele  association with"]
["OPRK1","opiate addiction  association with"]
["OPRD1","opioid dependence  association with"]
["DISC1","opioid dependence  protection against  in african americans  association with"]
["SLC24A1","optic atrophy"]
["OPA1","optic atrophy  acute & late onset"]
["SDHA","optic atrophy  ataxia  myopathy"]
["OPA1","optic atrophy  ataxia & neuropathy"]
["OPA3","optic atrophy  autosomal dominant"]
["WFS1","optic atrophy  autosomal dominant  with hearing impairment"]
["OPA3","optic atrophy  chorea  cerebellar ataxia & dystonia"]
["OPA1","optic atrophy  deafness & ataxia"]
["TMEM126A","optic atrophy  nonsyndromic"]
["OPA1","optic atrophy & epilepsy"]
["OPA1","optic atrophy type 1"]
["PAX6","optic nerve aplasia, bilateral"]
["PAX6","optic nerve hypoplasia, bilateral"]
["GSTP1","oral cancer  association with"]
["SULT1A1","oral cancer  association with"]
["XRCC4","oral cancer  association with"]
["GSTP1","oral cancer in light smokers  association with"]
["IRF6","oral clefts  non-syndromic"]
["XYLT2","organ involvement in pxe  association with"]
["OAT","ornithine aminotransferase deficiency"]
["OTC","ornithine transcarbamylase polymorphism"]
["BMP4","orofacial cleft 11"]
["PVRL1","orofacial cleft 7"]
["DDX59","orofaciodigital syndrome"]
["UGT1A10","orolaryngeal carcinoma  risk  association with"]
["SLC6A2","orthostatic intolerance"]
["COL11A2","ossification  protection against  association with"]
["CALM1","osteoarthritis  association with"]
["RHOB","osteoarthritis  association with"]
["COL11A1","osteoarthritis  early-onset"]
["COL11A2","osteoarthritis  early-onset"]
["IDH1","osteoarthritis  early-onset"]
["MATN3","osteoarthritis  susceptibility  association with"]
["GDF5","osteoarthritis  susceptibility to  association with"]
["ADAM12","osteoarthritis in males  association with"]
["MATN3","osteoarthritis of distal interphalangeal joint"]
["FRZB","osteoarthritis susceptibility 1"]
["COL2A1","osteoarthritis with mild spondyloepiphyseal dysplasia"]
["HPGD","osteoarthropathy  hypertrophic"]
["ACAN","osteochondritis dissecans  dominant familial"]
["COL2A1","osteochondrodysplasia"]
["PTH1R","osteochondrodysplasia  blomstrand"]
["PTH1R","osteochondrodysplasia  blomstrand  type 1"]
["WNT1","osteogenesis imperfecta  autosomal dominant"]
["BMP1","osteogenesis imperfecta  autosomal recessive"]
["CRTAP","osteogenesis imperfecta  autosomal recessive"]
["FKBP10","osteogenesis imperfecta  autosomal recessive"]
["LEPRE1","osteogenesis imperfecta  autosomal recessive"]
["SERPINF1","osteogenesis imperfecta  autosomal recessive"]
["WNT1","osteogenesis imperfecta  autosomal recessive"]
["LEPRE1","osteogenesis imperfecta  non-lethal"]
["CRTAP","osteogenesis imperfecta  non-lethal recessive"]
["CRTAP","osteogenesis imperfecta  recessive"]
["PPIB","osteogenesis imperfecta  recessive"]
["SP7","osteogenesis imperfecta  recessive"]
["IFITM5","osteogenesis imperfecta  type v"]
["COL1A1","osteogenesis imperfecta i/iv"]
["COL1A2","osteogenesis imperfecta i/iv"]
["COL1A1","osteogenesis imperfecta ia"]
["COL1A1","osteogenesis imperfecta ii/iii"]
["COL1A2","osteogenesis imperfecta ii/iii"]
["ANO5","osteogenesis imperfecta levin type"]
["COL1A1","osteogenesis imperfecta type 1, mild"]
["SERPINH1","osteogenesis imperfecta type 10"]
["FKBP10","osteogenesis imperfecta type 11"]
["SERPINF1","osteogenesis imperfecta type 12"]
["CRTAP","osteogenesis imperfecta type 7"]
["LEPRE1","osteogenesis imperfecta type 8"]
["PPIB","osteogenesis imperfecta type 9"]
["COL1A1","osteogenesis imperfecta with normal sclerae, dominant form"]
["COL1A2","osteogenesis imperfecta with normal sclerae, dominant form"]
["COL1A1","osteogenesis imperfecta, recessive perinatal lethal"]
["COL1A2","osteogenesis imperfecta, recessive perinatal lethal"]
["COL1A1","osteogenesis imperfecta, type ii, thin-bone type"]
["COL1A1","osteogenesis imperfecta, type iic"]
["COL1A1","osteogenesis imperfecta, type iii/iv"]
["COL1A1","osteogenesis imperfecta/ehlers-danlos syndrome"]
["COL1A2","osteogenesis imperfecta/ehlers-danlos syndrome"]
["MMP2","osteolysis  idiopathic  saudi type"]
["IL1RN","osteomyelitis, sterile multifocal, with periostitis and pustulosis"]
["AMER1","osteopathia striata with cranial sclerosis"]
["COL1A1","osteopenic nonfracture syndrome"]
["CLCN7","osteopetrosis  autosomal dominant  type 2"]
["TCIRG1","osteopetrosis  autosomal dominant  type 2"]
["CLCN7","osteopetrosis  autosomal recessive"]
["OSTM1","osteopetrosis  autosomal recessive"]
["TCIRG1","osteopetrosis  autosomal recessive"]
["TNFRSF11A","osteopetrosis  autosomal recessive"]
["TNFSF11","osteopetrosis  autosomal recessive"]
["CLCN7","osteopetrosis  autosomal recessive  intermediate"]
["CLCN7","osteopetrosis  benign autosomal dominant"]
["OSTM1","osteopetrosis  craniosynostosis  and chiari malformation type i"]
["SNX10","osteopetrosis  infantile  autosomal recessive"]
["TCIRG1","osteopetrosis  infantile malignant"]
["TNFRSF11A","osteopetrosis  rank-dependent  autosomal recessive"]
["TCIRG1","osteopetrosis autosomal recessive 1"]
["TNFSF11","osteopetrosis autosomal recessive 2"]
["CLCN7","osteopetrosis autosomal recessive 4"]
["OSTM1","osteopetrosis autosomal recessive 5"]
["TNFRSF11A","osteopetrosis autosomal recessive 7"]
["SNX10","osteopetrosis, autosomal recessive 8"]
["LEMD3","osteopoikilosis with melorheostosis"]
["LRP5","osteoporosis  association with"]
["SLC22A11","osteoporosis  association with"]
["SOST","osteoporosis  association with"]
["TGFB1","osteoporosis  association with"]
["WNK4","osteoporosis  association with"]
["COL1A2","osteoporosis  juvenile"]
["LRP5","osteoporosis  primary"]
["CD44","osteoporosis  susceptibility to  association"]
["COL1A1","osteoporosis  susceptibility to  association"]
["PLS3","osteoporosis  x-linked with fractures"]
["LRP5","osteoporosis with pseudoglioma"]
["TNFRSF11B","osteoporotic fractures  association with"]
["LOX","osteosarcoma  assocation with"]
["CHEK2","osteosarcoma, somatic"]
["FAM20C","osteosclerotic bone dysplasia  lethal"]
["FAM20C","osteosclerotic bone dysplasia  non-lethal"]
["PAX1","otofaciocervical syndrome"]
["EYA1","oto-facio-cervical syndrome"]
["COL11A2","otospondylomegaepiphyseal dysplasia, heterozygous"]
["ACACA","ovarian cancer"]
["PIK3CA","ovarian cancer"]
["RAD51L3","ovarian cancer"]
["P2RY5","ovarian cancer  association with"]
["RAD51C","ovarian cancer  association with"]
["MDM4","ovarian cancer  delayed progression  association with"]
["BRIP1","ovarian cancer  increased risk  association with"]
["GSTO2","ovarian cancer  increased risk  association with"]
["TERT","ovarian cancer  increased risk  association with"]
["TNFRSF10A","ovarian cancer  increased risk in brca1 carriers  association"]
["PDGFC","ovarian cancer  poor survival  association with"]
["GEMIN4","ovarian cancer  reduced risk  association with"]
["PGR","ovarian cancer  risk  association with"]
["C19orf62","ovarian cancer  susceptibility to"]
["RAD51L3","ovarian cancer  susceptibility to"]
["FSHR","ovarian cancer susceptibility  association with"]
["AKT1","ovarian cancer, somatic"]
["CDH1","ovarian cancer, somatic"]
["CTNNB1","ovarian cancer, somatic"]
["ERBB2","ovarian cancer, somatic"]
["OPCML","ovarian cancer, somatic"]
["RRAS2","ovarian cancer, somatic"]
["FSHR","ovarian dysgenesis 1"]
["BMP15","ovarian dysgenesis 2"]
["PIK3CA","ovarian epithelial cancer"]
["MCM8","ovarian follicle number  association with"]
["BRCA2","ovarian insufficiency  primary"]
["NOBOX","ovarian insufficiency  primary"]
["FSHR","ovarian response to fsh stimulation"]
["RNF135","overgrowth  dysmorphism and learning disabilities"]
["RNF135","overgrowth  dysmorphism and learning disability"]
["ESR2","ovulatory defects  association with"]
["LYRM4","oxphos deficiency  combined"]
["A4GALT","p phenotype"]
["B3GALNT1","p phenotype"]
["CHRNA7","p50 inhibitory defect  association with"]
["CHRNA7","p50 inhibitory defect  protection against  association with"]
["CHRFAM7A","p50 sensory gating deficit  association with"]
["TUBB2B","pachygyria  bilateral regional"]
["KRT16","pachyonychia congenita tarda, type 1"]
["KRT17","pachyonychia congenita type 2"]
["KRT6B","pachyonychia congenita type 2"]
["KRT16","pachyonychia congenita, type 1"]
["KRT6A","pachyonychia congenita, type 1"]
["IGF1R","pacreatic cancer  clinical outcome  association with"]
["IGF2R","pacreatic cancer  clinical outcome  association with"]
["AKR1CL2","paediatric cataract"]
["C10orf59","paediatric cataract"]
["CRYGB","paediatric cataract  association with"]
["SLC11A1","paediatric tuberculosis  reduced risk  association with"]
["PLA2G7","paf acetylhydrolase deficiency  association with"]
["TNFRSF11B","paget disease  juvenile"]
["TNFRSF11A","paget disease of bone  association with"]
["OPTN","paget disease of bone  reduced risk"]
["SCN9A","pain  dysautonomia & acromesomelia"]
["NTRK1","pain insensitivity  congenital"]
["NTRK1","pain insensitivity  congenital with anhidrosis"]
["OPRM1","pain perception  association with"]
["KRT9","palmoplantar keratoderma, epidermolytic"]
["KRT9","palmoplantar keratoderma, epidermolytic, with knuckle pads"]
["TRPV3","palmoplantar keratoderma, mutilating, with periorificial keratotic plaques"]
["KRT16","palmoplantar keratoderma, nonepidermolytic, focal"]
["SERPINB7","palmoplantar keratosis  nagashima-type"]
["PRNP","pan-autonomic failure  sensory neuropathy & cognitive impairment"]
["MTRR","pancreatic cancer  increased risk  association with"]
["PMS2","pancreatic cancer  increased risk  association with"]
["PMS2L3","pancreatic cancer  increased risk  association with"]
["PALLD","pancreatic cancer 1"]
["BRCA2","pancreatic cancer 2"]
["STK11","pancreatic cancer, somatic"]
["TP53","pancreatic cancer, somatic"]
["KRAS","pancreatic carcinoma, somatic"]
["RBBP8","pancreatic carcinoma, somatic"]
["SMAD4","pancreatic carcinoma, somatic"]
["RFX6","pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula"]
["PRSS1","pancreatitis  acute recurrent"]
["CTRC","pancreatitis  alcohol-related"]
["PRSS1","pancreatitis  association with"]
["PRSS1","pancreatitis  autoimmune"]
["CFTR","pancreatitis  chronic"]
["CLDN2","pancreatitis  chronic"]
["CTRC","pancreatitis  chronic"]
["PRSS1","pancreatitis  chronic"]
["SPINK1","pancreatitis  chronic"]
["CTRC","pancreatitis  chronic  association with"]
["PRSS1","pancreatitis  chronic  association with"]
["SPINK1","pancreatitis  chronic  association with"]
["PRSS1","pancreatitis  hereditary"]
["PRSS1","pancreatitis  protection against"]
["GP2","pancreatitis  reduced risk  association with"]
["CTRC","pancreatitis  tropical"]
["CTRC","pancreatitis  tropical  association with"]
["CTRC","pancreatitis  tropical calcific"]
["CTRC","pancreatitis, chronic, susceptibility to"]
["SPINK1","pancreatitis, chronic, susceptibility to"]
["CFTR","pancreatitis, idiopathic, susceptibility to"]
["MX1","panencephalitis  sclerosing  association with"]
["CAMKK2","panic and agoraphobia symptom severity  association"]
["AVPR1B","panic disorder  association with"]
["CCK","panic disorder  association with"]
["CRHR1","panic disorder  association with"]
["NTRK3","panic disorder  association with"]
["SLC6A4","panic disorder  association with"]
["NPSR1","panic disorder  in males  association with"]
["TSPO","panic disorder  reduced risk  association with"]
["PANK2","pantothenate kinase-associated neurodegeneration"]
["PANK2","pantothenate kinase-associated neurodegeneration  atypical"]
["FH","papillary renal cell carcinoma  isolated type 2"]
["SRGAP1","papillary thyroid carcinoma  susceptibility to"]
["CTSC","papillon-lefvre syndrome"]
["PAX2","papillorenal syndrome with macular abnormalities"]
["FUT1","para-bombay phenotype"]
["TRPA1","paradoxical heat sensation  association with"]
["TMEM127","paraganglioma"]
["SDHC","paraganglioma  autosomal dominant 3"]
["SDHD","paraganglioma, carotid body, somatic"]
["SDHD","paragangliomas 1"]
["SDHD","paragangliomas 1 with sensorineural hearing loss"]
["SDHAF2","paragangliomas 2"]
["SDHC","paragangliomas 3"]
["SDHB","paragangliomas 4"]
["PVR","paralytic poliomyelitis  association with"]
["SCN4A","paramyotonia congenita  von eulenburg"]
["SCN4A","paramyotonia congenita/hyperkalemic periodic paralysis"]
["SCN4A","paramyotonia congenita/myotonia congenita"]
["PON2","paraoxonase 2 polymorphism"]
["PON1","paraoxonase activity variant"]
["PON3","paraoxonase activity variant"]
["CDKN1A","parathyroid adenoma"]
["CDKN2B","parathyroid adenoma"]
["CDKN2C","parathyroid adenoma"]
["MEN1","parathyroid adenoma, somatic"]
["CDC73","parathyroid carcinoma, somatic"]
["ALX4","parietal foramina 2"]
["DCTN1","parkinson disease"]
["FTH1","parkinson disease"]
["FUS","parkinson disease"]
["GLA","parkinson disease"]
["PITX3","parkinson disease"]
["SMPD1","parkinson disease"]
["SNCAIP","parkinson disease"]
["ABCB1","parkinson disease  association with"]
["ADH1C","parkinson disease  association with"]
["BDNF","parkinson disease  association with"]
["CYP2D6","parkinson disease  association with"]
["HMOX2","parkinson disease  association with"]
["HSPA1A","parkinson disease  association with"]
["HTRA2","parkinson disease  association with"]
["IL1B","parkinson disease  association with"]
["LRRK2","parkinson disease  association with"]
["parkin","parkinson disease  association with"]
["PITX3","parkinson disease  association with"]
["GRN","parkinson disease  atypical"]
["ZFYVE26","parkinson disease  atypical juvenile"]
["PARK2","parkinson disease  autosomal recessive"]
["PARK7","parkinson disease  autosomal recessive"]
["parkin","parkinson disease  autosomal recessive"]
["PINK1","parkinson disease  autosomal recessive"]
["GLUD2","parkinson disease  earlier onset  association with"]
["PARK7","parkinson disease  early onset"]
["PARK2","parkinson disease  early-onset"]
["parkin","parkinson disease  early-onset"]
["PINK1","parkinson disease  early-onset"]
["PLA2G6","parkinson disease  early-onset"]
["POLG","parkinson disease  early-onset"]
["PARK2","parkinson disease  familial  association with"]
["MTX1","parkinson disease  gba-associated  modifier of"]
["RAB7L1","parkinson disease  idiopathic"]
["SLC41A1","parkinson disease  idiopathic"]
["parkin","parkinson disease  in heterozygosity  association"]
["ATP13A2","parkinson disease  increased risk"]
["DBH","parkinson disease  increased risk  assoc"]
["FGF20","parkinson disease  increased risk  association with"]
["GAK","parkinson disease  increased risk  association with"]
["PINK1","parkinson disease  increased risk  association with"]
["PARK2","parkinson disease  late-onset"]
["parkin","parkinson disease  late-onset"]
["HLA-DRA","parkinson disease  late-onset  assoc with"]
["VPS35","parkinson disease  late-onset  autosomal dominant"]
["PINK1","parkinson disease  levodopa-responsive early-onset"]
["UCHL1","parkinson disease  lower risk  association with"]
["SLC6A3","parkinson disease  protection against  association"]
["LRRK2","parkinson disease  reduced risk  association with"]
["RAB7L1","parkinson disease  reduced risk  association with"]
["USP24","parkinson disease  risk  association with"]
["PARK2","parkinson disease  sporadic  reduced risk"]
["NDUFV2","parkinson disease  susceptibility to  association"]
["SNCA","parkinson disease  young-onset"]
["SNCA","parkinson disease 1, autosomal dominant"]
["HTRA2","parkinson disease 13, autosomal dominant"]
["HTRA2","parkinson disease 13, susceptibility to"]
["FBXO7","parkinson disease 15"]
["EIF4G1","parkinson disease 18"]
["PARK2","parkinson disease 2"]
["PINK1","parkinson disease 6"]
["PARK7","parkinson disease 7"]
["LRRK2","parkinson disease 8, autosomal dominant"]
["LRRK2","parkinson disease 8, susceptibility to"]
["ATP13A2","parkinson disease 9"]
["BDNF","parkinson disease, age at onset, susceptibility to"]
["PARK7","parkinson disease, autosomal recessive early-onset, digenic, pink1/dj1"]
["PINK1","parkinson disease, autosomal recessive early-onset, digenic, pink1/dj1"]
["GBA","parkinson disease, late-onset, susceptibility to"]
["MAPT","parkinson disease, late-onset, susceptibility to"]
["MC1R","parkinson disease, late-onset, susceptibility to"]
["CP","parkinsonism  association with"]
["SOD2","parkinsonism  association with"]
["SLC30A10","parkinsonism  dystonia  hypermanganesaemia  polycythaemia & liver disease"]
["SYNJ1","parkinsonism  early-onset"]
["ATP13A2","parkinsonism  juvenile"]
["DNAJC6","parkinsonism  juvenile"]
["PARK2","parkinsonism  juvenile  autosomal recessive"]
["parkin","parkinsonism  juvenile  autosomal recessive"]
["TH","parkinsonism  l-dopa-responsive"]
["PLA2G6","parkinsonism  l-dopa-responsive with dementia"]
["ATP13A2","parkinsonism  pyramidal disturbances & oculomotor abnormalities"]
["ATP6AP2","parkinsonism  x-linked with spasticity"]
["GSK3B","parkinson's disease  risk  association with"]
["SLC2A1","paroxysmal dyskinesia  exertion-induced"]
["SLC2A1","paroxysmal dyskinesia  exertion-induced  epilepsy & migraine"]
["SLC2A1","paroxysmal dyskinesia  exertion-induced & epilepsy"]
["SCN9A","paroxysmal extreme pain disorder / erythermalgia  primary"]
["CACNA1A","paroxysmal head tremor  adult-onset"]
["ADA","partial adenosine deaminase deficiency"]
["GRIN2A","partial epilepsy  atypical benign"]
["C4orf23","partial epilepsy with pericentral spikes"]
["LMNA","partial lipodystrophy  atypical"]
["LMNA","partial lipodystrophy  dunnigan"]
["PLIN1","partial lipodystrophy  dyslipidemia & insulin-resistant diabetes"]
["LMNA","partial lipodystrophy  type 2"]
["BLM","partial loss of function"]
["SCN1A","partial seizures of infancy  malignant migrating"]
["ATP7B","partially impaired copper transport"]
["PAX8","pax8 polymorphism"]
["RARB","pdac syndrome"]
["CHST8","peeling skin syndrome  type a"]
["LBR","pelger-hut anomaly"]
["PLP1","pelizaeus-merzbacher disease  association with"]
["PLP1","pelizaeus-merzbacher disease, atypical"]
["PLP1","pelizaeus-merzbacher disease, connatal"]
["PLP1","pelizaeus-merzbacher disease, mild"]
["LAMC1","pelvic organ prolapse  association with"]
["DSG1","pemphigus foliaceus  association with"]
["ITGB3","pen"]
["SLC26A4","pendred syndrome/dfnb4"]
["TAP1","peptide transporter psf1 polymorphism"]
["TAP2","peptide transporter psf2 polymorphism"]
["APOE","percentage fat mass  association with"]
["SFTPC","perinatal respiratory disease  association with"]
["TNFRSF1A","periodic fever  atypical"]
["TNFRSF1A","periodic fever  autosomal dominant"]
["XIAP","periodic fever  idiopathic  association with"]
["KCNE3","periodic paralysis"]
["CTSC","periodontitis  aggressive  association with"]
["FPR1","periodontitis  aggressive  association with"]
["LTF","periodontitis  aggressive  association with"]
["CSF1","periodontitis  association with"]
["CAMP","periodontitis  generalized aggressive  association with"]
["DEFB1","periodontitis  increased risk  association with"]
["CTSC","periodontitis  juvenile"]
["FPR1","periodontitis  juvenile  association with"]
["CTSC","periodontitis, aggressive, 1"]
["HSPB1","peripheral neuropathy  early-onset"]
["MYH14","peripheral neuropathy  myopathy  and hearing loss"]
["SCN10A","peripheral neuropathy  painful"]
["POLG","peripheral neuropathy  sensorineural hearing loss  tremor & intracranial calcifications"]
["DCHS1","periventricular neuronal heterotopia"]
["FAT4","periventricular neuronal heterotopia"]
["G6PC2","permanent neonatal diabetes"]
["ABCC8","permanent neonatal diabetes mellitus"]
["INS","permanent neonatal diabetes mellitus"]
["PDX1","permanent neonatal diabetes mellitus"]
["PEX12","peroxisomal biogenesis disorder 3b"]
["PEX13","peroxisome biogenesis disorder 11a"]
["PEX13","peroxisome biogenesis disorder 11b"]
["PEX14","peroxisome biogenesis disorder 13a"]
["PEX5","peroxisome biogenesis disorder 2a"]
["PEX12","peroxisome biogenesis disorder 3a"]
["PEX2","peroxisome biogenesis disorder 5a"]
["PEX2","peroxisome biogenesis disorder 5b"]
["PEX10","peroxisome biogenesis disorder 6b"]
["PEX26","peroxisome biogenesis disorder 7a"]
["PEX26","peroxisome biogenesis disorder 7b"]
["PEX16","peroxisome biogenesis disorder 8a"]
["PEX7","peroxisome biogenesis disorder 9b"]
["PEX1","peroxisome biogenesis disorders, zellweger syndrome spectrum"]
["LARS2","perrault syndrome 4"]
["NKX2-6","persistent truncus arteriosus"]
["FGFR2","pfeiffer syndrome variant"]
["FGFR2","pfeiffer syndrome, type iii"]
["DES","phenotype modifier"]
["SNURF","phenotype modifier"]
["ARSA","phenotype modifier  association with"]
["CCM2","phenotype modifier  association with"]
["HBG1","phenotype modifier  association with"]
["KRIT1","phenotype modifier  association with"]
["MYO7A","phenotype modifier  association with"]
["SCN5A","phenotype modifier  association with"]
["SPAST","phenotype modifier  association with"]
["TNFSF11","phenotype modifier  association with"]
["vWF-CP","phenotype modifier  association with"]
["COL15A1","phenotype modifier  early-onset glaucoma"]
["TAS2R38","phenylthiocarbamide taste sensitivity  association"]
["TAS2R38","phenylthiocarbamide tasting"]
["CYP2C9","phenytoin response"]
["GDNF","pheochromocytoma, modifier of"]
["RET","pheochromocytoma, somatic"]
["SDHD","pheochromocytoma, somatic"]
["TMEM127","pheochromocytoma, susceptibility to"]
["SLC37A4","phosphate transport defect"]
["PGK1","phosphoglycerate kinase 1 deficiency, afula"]
["PGK1","phosphoglycerate kinase 1 deficiency, amiens"]
["PGK1","phosphoglycerate kinase 1 deficiency, barcelona"]
["PGK1","phosphoglycerate kinase 1 deficiency, hamamatsu"]
["PGK1","phosphoglycerate kinase 1 deficiency, herlev"]
["PGK1","phosphoglycerate kinase 1 deficiency, matsue"]
["PGK1","phosphoglycerate kinase 1 deficiency, michigan"]
["PGK1","phosphoglycerate kinase 1 deficiency, munchen"]
["PGK1","phosphoglycerate kinase 1 deficiency, murcia"]
["PGK1","phosphoglycerate kinase 1 deficiency, shizuoka"]
["PGK1","phosphoglycerate kinase 1 deficiency, uppsala"]
["PGK1","phosphoglycerate kinase 1, pgk ii"]
["PGAM2","phosphoglycerate mutase deficiency  partial"]
["MGC15875","phosphohydroxylysinuria"]
["N/A","phosphohydroxylysinuria"]
["PLA2G4A","phospholipase a2, group iv a, deficiency of"]
["PHKA2","phosphorylase kinase deficiency  hepatic"]
["PEX7","phytanic acid storage disease"]
["SERPINA1","pi christchurch"]
["SERPINA1","pi f"]
["SERPINA1","pi i"]
["SERPINA1","pi m"]
["SERPINA1","pi m1-ala213"]
["SERPINA1","pi m2"]
["SERPINA1","pi m3"]
["SERPINA1","pi m4"]
["SERPINA1","pi null"]
["SERPINA1","pi p"]
["SERPINA1","pi pittsburgh"]
["SERPINA1","pi q0"]
["SERPINA1","pi s"]
["SERPINA1","pi v"]
["SERPINA1","pi x"]
["SERPINA1","pi z"]
["SERPINA1","pi, m1a"]
["KIT","piebaldism and auburn hair"]
["KIT","piebaldism with sensorineural deafness"]
["SLC45A2","pigmentation variation  association with"]
["KRAS","pilocytic astrocytoma, somatic"]
["CTNNB1","pilomatricoma, somatic"]
["PAX6","pineal gland  absence of"]
["AIP","pituitary adenoma predisposition"]
["AIP","pituitary adenoma with neuronal choristoma"]
["GNAI2","pituitary adenoma, acth-secreting, somatic"]
["GNAS","pituitary adenoma, acth-secreting, somatic"]
["AIP","pituitary apoplexy"]
["AIP","pituitary dependent hypercortisolism"]
["HHIP","pituitary hormone deficiency  combined"]
["LHX3","pituitary hormone deficiency  combined"]
["LHX4","pituitary hormone deficiency  combined"]
["OTX2","pituitary hormone deficiency  combined"]
["SHH","pituitary hormone deficiency  combined"]
["LHX4","pituitary hormone deficiency  severe combined"]
["POU1F1","pituitary hormone deficiency, combined"]
["PROP1","pituitary hormone deficiency, combined"]
["POU1F1","pituitary hormone deficiency, combined 1"]
["PROP1","pituitary hormone deficiency, combined 2"]
["LHX3","pituitary hormone deficiency, combined 3"]
["LHX4","pituitary hormone deficiency, combined 4"]
["GNAS","pituitary tumor, growth hormone-secreting, somatic"]
["ITGB3","pl"]
["F5","placental abruption  association with"]
["MGP","plaque calcification  increased risk  association with"]
["LRP8","plasma cholesterol levels  association with"]
["LIPI","plasma hdl cholesterol  association with"]
["LIPE","plasma lipid concentration association with"]
["ACAT2","plasma lipids  association with"]
["SERPINE1","plasminogen activator inhibitor type 1 deficiency"]
["PLG","plasminogen deficiency  severe type i"]
["PLG","plasminogen deficiency, type i"]
["MPL","platelet count  association with"]
["RUNX1","platelet disorder  familial"]
["RUNX1","platelet disorder  familial & myeloid leukaemia"]
["RUNX1","platelet disorder  familial with associated myeloid malignancy"]
["TBXA2R","platelet-type bleeding disorder 13, susceptibility to"]
["P2RY12","platelet-type bleeding disorder 8"]
["COL2A1","platyspondylic lethal skeletal dysplasia torrance type"]
["COL2A1","platyspondylic skeletal dysplasia  torrance"]
["ABCA3","pneumonia  neonatal interstitial"]
["ABCA3","pneumonitis  desquamative interstitial"]
["BHD","pneumothorax  primary spontaneous"]
["USB1","poikiloderma with neutropenia"]
["C1GALT1C1","polyagglutinable erythrocyte syndrome"]
["PKD2","polycystic kidney disease"]
["PKD1","polycystic kidney disease  autosomal dominant"]
["PKD2","polycystic kidney disease  autosomal dominant"]
["PKD2","polycystic kidney disease  neonatal-onset"]
["ASS1","polycystic kidney disease 1"]
["PKD1","polycystic kidney disease 1  association with"]
["CYP17A1","polycystic ovaries  association with"]
["AKR1C3","polycystic ovary syndrome  association with"]
["GNRHR","polycystic ovary syndrome  association with"]
["INSR","polycystic ovary syndrome  in lean women  association with"]
["DENND1A","polycystic ovary syndrome  increased risk"]
["LHCGR","polycystic ovary syndrome  increased risk"]
["VHL","polycythaemia  with high epo concentration"]
["JAK2","polycythemia vera, somatic"]
["HCRTR1","polydipsia-hyponatremia  association with"]
["GBE1","polyglucosan body disease  adult"]
["TUBB2B","polymicrogyria  asymmetrical"]
["GPR56","polymicrogyria  bilateral frontoparietal"]
["TUBB2B","polymicrogyria  diffuse"]
["TUBB2B","polymicrogyria, asymmetric"]
["TUBA1A","polymicrogyria-like  diffuse"]
["TUBB2B","polymicrogyria-like  diffuse"]
["TUBB2B","polymicrogyria-like  perisylvian"]
["ABHD12","polyneuropathy  hearing loss  ataxia  retinitis pigmentosa & cataract"]
["GJB1","polyneuropathy  late-onset"]
["GNAS","polyostotic fibrous dysplasia, somatic, mosaic"]
["ENG","polyposis  juvenile"]
["BMPR1A","polyposis  juvenile intestinal"]
["AMPD2","pontocerebellar hypoplasia  ampd2-related"]
["VLDLR","pontocerebellar hypoplasia  cortical dysplasia  mental retardation and bipedal gait"]
["VRK1","pontocerebellar hypoplasia type 1"]
["SEPSECS","pontocerebellar hypoplasia type 2d"]
["TSEN54","pontocerebellar hypoplasia type 4"]
["CHMP1A","pontocerebellar hypoplasia type 8"]
["EXOSC3","pontocerebellar hypoplasia, type 1b"]
["CYP2C9","poor metaboliser  association with"]
["OLFM2","poor visual field score  association with"]
["COL4A1","porencephaly  bilateral"]
["COL4A1","porencephaly  familial"]
["COL4A1","porencephaly  intracerebral haemorrhage & white matter disease"]
["COL4A1","porencephaly  prenatal"]
["COL4A1","porencephaly  unilateral"]
["ARPC3","porokeratosis  disseminated superficial actinic"]
["SSH1","porokeratosis  disseminated superficial actinic  1"]
["MVK","porokeratosis, disseminated superficial actinic 1"]
["ALAD","porphyria  acute intermittent"]
["HMBS","porphyria  acute intermittent"]
["HMBS","porphyria  acute intermittent  non-erythroid type"]
["GATA1","porphyria  congenital erythropoietic"]
["UROD","porphyria  cutanea tarda"]
["UROS","porphyria  erythropoietic"]
["ALAS2","porphyria  erythropoietic  modifier of"]
["UROD","porphyria  hepatoerythropoietic"]
["PPOX","porphyria  variegate"]
["ALAS2","porphyria  without anaemia/iron overload"]
["HFE","porphyria cutanea tarda, susceptibility to"]
["HFE","porphyria variegata, susceptibility to"]
["ALAD","porphyria, acute hepatic, digenic"]
["GLI3","postaxial polydactyly, type a1/b"]
["COL4A1","post-ictal hemiparesis"]
["KCNMB3","potassium channel deficiency  association with"]
["A4GNT","potential protein deficiency"]
["ABCA10","potential protein deficiency"]
["ABCA4","potential protein deficiency"]
["ABCA8","potential protein deficiency"]
["ABCC9","potential protein deficiency"]
["ACADVL","potential protein deficiency"]
["ACPP","potential protein deficiency"]
["ACSM3","potential protein deficiency"]
["ACVRL1","potential protein deficiency"]
["ACY1","potential protein deficiency"]
["ACY3","potential protein deficiency"]
["ADAM7","potential protein deficiency"]
["ADARB1","potential protein deficiency"]
["ADCY9","potential protein deficiency"]
["AGT","potential protein deficiency"]
["AGTR1","potential protein deficiency"]
["AGTR2","potential protein deficiency"]
["AHI1","potential protein deficiency"]
["AHNAK","potential protein deficiency"]
["AK1","potential protein deficiency"]
["ALS2CL","potential protein deficiency"]
["AMAC1L3","potential protein deficiency"]
["AMHR2","potential protein deficiency"]
["ANAPC1","potential protein deficiency"]
["ANGEL2","potential protein deficiency"]
["ANK3","potential protein deficiency"]
["ANKK1","potential protein deficiency"]
["ANKRD55","potential protein deficiency"]
["ANXA7","potential protein deficiency"]
["AOX1","potential protein deficiency"]
["AP3B1","potential protein deficiency"]
["APC","potential protein deficiency"]
["APOC4","potential protein deficiency"]
["APOL3","potential protein deficiency"]
["ARSF","potential protein deficiency"]
["ASAH2","potential protein deficiency"]
["ASMT","potential protein deficiency"]
["ASMTL","potential protein deficiency"]
["ASXL3","potential protein deficiency"]
["ATP6AP2","potential protein deficiency"]
["ATR","potential protein deficiency"]
["ATRX","potential protein deficiency"]
["ATXN3L","potential protein deficiency"]
["AURKA","potential protein deficiency"]
["AXL","potential protein deficiency"]
["BAX","potential protein deficiency"]
["BCOR","potential protein deficiency"]
["BRCA1","potential protein deficiency"]
["BRCA2","potential protein deficiency"]
["BRWD3","potential protein deficiency"]
["BTBD12","potential protein deficiency"]
["BTNL2","potential protein deficiency"]
["C10orf33","potential protein deficiency"]
["C10orf68","potential protein deficiency"]
["C14orf133","potential protein deficiency"]
["C15orf62","potential protein deficiency"]
["C1orf100","potential protein deficiency"]
["C1orf227","potential protein deficiency"]
["C1orf54","potential protein deficiency"]
["C2CD3","potential protein deficiency"]
["C2orf53","potential protein deficiency"]
["C2orf63","potential protein deficiency"]
["C5orf20","potential protein deficiency"]
["C9orf93","potential protein deficiency"]
["CACNA1D","potential protein deficiency"]
["CACNA1S","potential protein deficiency"]
["CATSPERG","potential protein deficiency"]
["CC2D2A","potential protein deficiency"]
["CCDC144NL","potential protein deficiency"]
["CCDC39","potential protein deficiency"]
["CCDC42","potential protein deficiency"]
["CCHCR1","potential protein deficiency"]
["CD22","potential protein deficiency"]
["CDC27","potential protein deficiency"]
["CDC73","potential protein deficiency"]
["CDCP2","potential protein deficiency"]
["CDH15","potential protein deficiency"]
["CDH2","potential protein deficiency"]
["CDK7","potential protein deficiency"]
["CDR1","potential protein deficiency"]
["CELA1","potential protein deficiency"]
["CEP290","potential protein deficiency"]
["CHRNA2","potential protein deficiency"]
["CHRNA4","potential protein deficiency"]
["CHRNB2","potential protein deficiency"]
["COG1","potential protein deficiency"]
["COL25A1","potential protein deficiency"]
["COL3A1","potential protein deficiency"]
["COL6A3","potential protein deficiency"]
["COQ2","potential protein deficiency"]
["CPA6","potential protein deficiency"]
["CPXM2","potential protein deficiency"]
["CRFG","potential protein deficiency"]
["CRX","potential protein deficiency"]
["CRYGA","potential protein deficiency"]
["CRYGD","potential protein deficiency"]
["CSAG1","potential protein deficiency"]
["CSNK1A1L","potential protein deficiency"]
["CSNK1G3","potential protein deficiency"]
["CUBN","potential protein deficiency"]
["CUTA","potential protein deficiency"]
["DDRGK1","potential protein deficiency"]
["DDX3X","potential protein deficiency"]
["DHDH","potential protein deficiency"]
["DHX15","potential protein deficiency"]
["DHX37","potential protein deficiency"]
["DLG3","potential protein deficiency"]
["DMD","potential protein deficiency"]
["DNAH10","potential protein deficiency"]
["DNAH14","potential protein deficiency"]
["DNAH5","potential protein deficiency"]
["DNAJA4","potential protein deficiency"]
["DNMBP","potential protein deficiency"]
["DRP2","potential protein deficiency"]
["DSC2","potential protein deficiency"]
["DSG4","potential protein deficiency"]
["DUSP21","potential protein deficiency"]
["EEF2K","potential protein deficiency"]
["EFHC1","potential protein deficiency"]
["EPB41L3","potential protein deficiency"]
["EPHX1","potential protein deficiency"]
["EPOR","potential protein deficiency"]
["EPX","potential protein deficiency"]
["ERAP1","potential protein deficiency"]
["ERCC6L","potential protein deficiency"]
["ETFDH","potential protein deficiency"]
["EVPL","potential protein deficiency"]
["FAM164C","potential protein deficiency"]
["FAM187B","potential protein deficiency"]
["FAM194A","potential protein deficiency"]
["FAM46C","potential protein deficiency"]
["FAM47B","potential protein deficiency"]
["FAM71C","potential protein deficiency"]
["FASTKD1","potential protein deficiency"]
["FBN1","potential protein deficiency"]
["FCRL6","potential protein deficiency"]
["FKBPL","potential protein deficiency"]
["FLG","potential protein deficiency"]
["FLJ13984","potential protein deficiency"]
["FRK","potential protein deficiency"]
["FTHL17","potential protein deficiency"]
["FTSJ3","potential protein deficiency"]
["GAB4","potential protein deficiency"]
["GABRG3","potential protein deficiency"]
["GAS2L2","potential protein deficiency"]
["GATA2","potential protein deficiency"]
["GBA2","potential protein deficiency"]
["GBE1","potential protein deficiency"]
["GBGT1","potential protein deficiency"]
["GHRL","potential protein deficiency"]
["GJB4","potential protein deficiency"]
["GML","potential protein deficiency"]
["GNAQ","potential protein deficiency"]
["GNL1","potential protein deficiency"]
["GNPTG","potential protein deficiency"]
["GOLGA6L6","potential protein deficiency"]
["GPATCH4","potential protein deficiency"]
["GPR1","potential protein deficiency"]
["GREB1L","potential protein deficiency"]
["GRIN2B","potential protein deficiency"]
["GRIN2C","potential protein deficiency"]
["GRIN3A","potential protein deficiency"]
["GRK4","potential protein deficiency"]
["GUCY2D","potential protein deficiency"]
["GW112","potential protein deficiency"]
["GYLTL1B","potential protein deficiency"]
["H2BFWT","potential protein deficiency"]
["HAL","potential protein deficiency"]
["HAPLN3","potential protein deficiency"]
["HAS1","potential protein deficiency"]
["HBD","potential protein deficiency"]
["HELB","potential protein deficiency"]
["HHIPL2","potential protein deficiency"]
["HNF1B","potential protein deficiency"]
["HOXB13","potential protein deficiency"]
["HRC","potential protein deficiency"]
["HS6ST1","potential protein deficiency"]
["HSP90AA1","potential protein deficiency"]
["HSPB8","potential protein deficiency"]
["IARS","potential protein deficiency"]
["ICK","potential protein deficiency"]
["IDI2","potential protein deficiency"]
["IFITM3","potential protein deficiency"]
["IFT80","potential protein deficiency"]
["IL28A","potential protein deficiency"]
["IL2RB","potential protein deficiency"]
["IL9R","potential protein deficiency"]
["IMPDH1","potential protein deficiency"]
["IQCB1","potential protein deficiency"]
["IQGAP2","potential protein deficiency"]
["IQSEC2","potential protein deficiency"]
["ITGAD","potential protein deficiency"]
["ITGB3","potential protein deficiency"]
["ITIH5L","potential protein deficiency"]
["ITM2C","potential protein deficiency"]
["ITPR1","potential protein deficiency"]
["KALRN","potential protein deficiency"]
["KANK1","potential protein deficiency"]
["KIAA0100","potential protein deficiency"]
["KIAA0564","potential protein deficiency"]
["KIAA0691","potential protein deficiency"]
["KIAA1345","potential protein deficiency"]
["KIAA1755","potential protein deficiency"]
["KILLIN","potential protein deficiency"]
["KISS1","potential protein deficiency"]
["KLHL34","potential protein deficiency"]
["KLK14","potential protein deficiency"]
["KPNA1","potential protein deficiency"]
["KPRP","potential protein deficiency"]
["KRT37","potential protein deficiency"]
["KRT38","potential protein deficiency"]
["KRTAP1-1","potential protein deficiency"]
["KRTAP13-2","potential protein deficiency"]
["KRTAP4-8","potential protein deficiency"]
["LAD1","potential protein deficiency"]
["LAIR2","potential protein deficiency"]
["LAMA5","potential protein deficiency"]
["LCE5A","potential protein deficiency"]
["LGALS8","potential protein deficiency"]
["LIG1","potential protein deficiency"]
["LIG4","potential protein deficiency"]
["LIPJ","potential protein deficiency"]
["LRIT3","potential protein deficiency"]
["LRP1","potential protein deficiency"]
["LRRC34","potential protein deficiency"]
["LRRK2","potential protein deficiency"]
["LYN","potential protein deficiency"]
["MAGEB16","potential protein deficiency"]
["MAGEE2","potential protein deficiency"]
["MAGT1","potential protein deficiency"]
["MAMLD1","potential protein deficiency"]
["MAN2A2","potential protein deficiency"]
["MAOB","potential protein deficiency"]
["MAP2K3","potential protein deficiency"]
["MAP3K1","potential protein deficiency"]
["MAP3K15","potential protein deficiency"]
["MAP7D3","potential protein deficiency"]
["MAST4","potential protein deficiency"]
["MED12","potential protein deficiency"]
["MGST2","potential protein deficiency"]
["MICA","potential protein deficiency"]
["MMGT1","potential protein deficiency"]
["MMP1","potential protein deficiency"]
["MMP8","potential protein deficiency"]
["MOBKL2C","potential protein deficiency"]
["MOGAT3","potential protein deficiency"]
["MOK","potential protein deficiency"]
["MRPL48","potential protein deficiency"]
["MS4A12","potential protein deficiency"]
["MSH6","potential protein deficiency"]
["MST1","potential protein deficiency"]
["MST1R","potential protein deficiency"]
["MTHFR","potential protein deficiency"]
["MTMR2","potential protein deficiency"]
["MUC6","potential protein deficiency"]
["MYBPC2","potential protein deficiency"]
["MYH11","potential protein deficiency"]
["MYH6","potential protein deficiency"]
["MYH7","potential protein deficiency"]
["MYL2","potential protein deficiency"]
["MYOZ2","potential protein deficiency"]
["NARS2","potential protein deficiency"]
["NAT8L","potential protein deficiency"]
["NCKAP1","potential protein deficiency"]
["NDUFV3","potential protein deficiency"]
["NEK3","potential protein deficiency"]
["NEUROD1","potential protein deficiency"]
["NHS","potential protein deficiency"]
["NLGN4X","potential protein deficiency"]
["NOD1","potential protein deficiency"]
["NPC1L1","potential protein deficiency"]
["NPC2","potential protein deficiency"]
["NPSR1","potential protein deficiency"]
["NSDHL","potential protein deficiency"]
["NSL1","potential protein deficiency"]
["NTF5","potential protein deficiency"]
["NTM","potential protein deficiency"]
["NWD1","potential protein deficiency"]
["NXF5","potential protein deficiency"]
["OAS1","potential protein deficiency"]
["OAS2","potential protein deficiency"]
["OBSCN","potential protein deficiency"]
["OFD1","potential protein deficiency"]
["OR10J1","potential protein deficiency"]
["OR2T5","potential protein deficiency"]
["OR4C16","potential protein deficiency"]
["OR4C3","potential protein deficiency"]
["OR4X2","potential protein deficiency"]
["OR51F1","potential protein deficiency"]
["OR51I1","potential protein deficiency"]
["OR51Q1","potential protein deficiency"]
["OR52B4","potential protein deficiency"]
["OR5AR1","potential protein deficiency"]
["OR5D13","potential protein deficiency"]
["OR5L2","potential protein deficiency"]
["OR6Q1","potential protein deficiency"]
["OR7G3","potential protein deficiency"]
["OS9","potential protein deficiency"]
["OXGR1","potential protein deficiency"]
["P2RY4","potential protein deficiency"]
["PABPC1","potential protein deficiency"]
["PASK","potential protein deficiency"]
["PCDH10","potential protein deficiency"]
["PCDHGA10","potential protein deficiency"]
["PCDHGA11","potential protein deficiency"]
["PCOLCE2","potential protein deficiency"]
["PDE4DIP","potential protein deficiency"]
["PDPK1","potential protein deficiency"]
["PFAS","potential protein deficiency"]
["PFTK1","potential protein deficiency"]
["PIK3R1","potential protein deficiency"]
["PIK3R4","potential protein deficiency"]
["PKHD1L1","potential protein deficiency"]
["PKN3","potential protein deficiency"]
["PKP2","potential protein deficiency"]
["PLA2G3","potential protein deficiency"]
["PLCZ1","potential protein deficiency"]
["PLEKHH1","potential protein deficiency"]
["PMS2","potential protein deficiency"]
["PNMT","potential protein deficiency"]
["PNPLA2","potential protein deficiency"]
["POLE1","potential protein deficiency"]
["POLE2","potential protein deficiency"]
["POLRMT","potential protein deficiency"]
["POTEH","potential protein deficiency"]
["PPM1D","potential protein deficiency"]
["PRAMEF2","potential protein deficiency"]
["PRAMEF4","potential protein deficiency"]
["PRB4","potential protein deficiency"]
["PREPL","potential protein deficiency"]
["PRKCG","potential protein deficiency"]
["PRKD3","potential protein deficiency"]
["PROCA1","potential protein deficiency"]
["PSCA","potential protein deficiency"]
["PSG2","potential protein deficiency"]
["PSORS1C1","potential protein deficiency"]
["PSORS1C2","potential protein deficiency"]
["PTCHD3","potential protein deficiency"]
["PTPN11","potential protein deficiency"]
["PTPN22","potential protein deficiency"]
["PTPRM","potential protein deficiency"]
["PYGM","potential protein deficiency"]
["PZP","potential protein deficiency"]
["RAGE","potential protein deficiency"]
["RIPK3","potential protein deficiency"]
["RNF113A","potential protein deficiency"]
["RNF160","potential protein deficiency"]
["ROCK1","potential protein deficiency"]
["ROM1","potential protein deficiency"]
["ROS1","potential protein deficiency"]
["RP1","potential protein deficiency"]
["RP1L1","potential protein deficiency"]
["RPRD1B","potential protein deficiency"]
["RPS6KB1","potential protein deficiency"]
["RPS6KL1","potential protein deficiency"]
["RSRC1","potential protein deficiency"]
["RYR1","potential protein deficiency"]
["S100G","potential protein deficiency"]
["SAGE1","potential protein deficiency"]
["SAMD4A","potential protein deficiency"]
["SATL1","potential protein deficiency"]
["SCNN1G","potential protein deficiency"]
["SDHA","potential protein deficiency"]
["SDHC","potential protein deficiency"]
["SECISBP2","potential protein deficiency"]
["SELP","potential protein deficiency"]
["SEMA4C","potential protein deficiency"]
["SERPINH1","potential protein deficiency"]
["SETDB2","potential protein deficiency"]
["SHROOM4","potential protein deficiency"]
["SIAE","potential protein deficiency"]
["SIGLEC12","potential protein deficiency"]
["SLC10A2","potential protein deficiency"]
["SLC17A4","potential protein deficiency"]
["SLC25A13","potential protein deficiency"]
["SLC25A43","potential protein deficiency"]
["SLC26A10","potential protein deficiency"]
["SLC26A11","potential protein deficiency"]
["SLC34A1","potential protein deficiency"]
["SLC34A2","potential protein deficiency"]
["SLC5A2","potential protein deficiency"]
["SLC5A5","potential protein deficiency"]
["SLC6A4","potential protein deficiency"]
["SLC9A6","potential protein deficiency"]
["SMG1","potential protein deficiency"]
["SMUG1","potential protein deficiency"]
["SMYD3","potential protein deficiency"]
["SOSTDC1","potential protein deficiency"]
["SOX3","potential protein deficiency"]
["SPATA21","potential protein deficiency"]
["SPATA8","potential protein deficiency"]
["SPEG","potential protein deficiency"]
["SPTBN5","potential protein deficiency"]
["SPZ1","potential protein deficiency"]
["SRA1","potential protein deficiency"]
["SRI","potential protein deficiency"]
["SSX1","potential protein deficiency"]
["STK19","potential protein deficiency"]
["STK32A","potential protein deficiency"]
["STK33","potential protein deficiency"]
["STXBP4","potential protein deficiency"]
["SYN1","potential protein deficiency"]
["SYTL3","potential protein deficiency"]
["SYTL4","potential protein deficiency"]
["SYTL5","potential protein deficiency"]
["TAF1L","potential protein deficiency"]
["TAS2R46","potential protein deficiency"]
["TCTE1","potential protein deficiency"]
["TELO2","potential protein deficiency"]
["TET2","potential protein deficiency"]
["TEX14","potential protein deficiency"]
["TG","potential protein deficiency"]
["TLK1","potential protein deficiency"]
["TLR4","potential protein deficiency"]
["TMEM187","potential protein deficiency"]
["TMEM31","potential protein deficiency"]
["TMEM43","potential protein deficiency"]
["TMPRSS12","potential protein deficiency"]
["TMPRSS3","potential protein deficiency"]
["TNFSF10","potential protein deficiency"]
["TNNI3","potential protein deficiency"]
["TNNI3K","potential protein deficiency"]
["TNNT2","potential protein deficiency"]
["TP53RK","potential protein deficiency"]
["TPTE","potential protein deficiency"]
["TRAF3IP1","potential protein deficiency"]
["TREX1","potential protein deficiency"]
["TRPM1","potential protein deficiency"]
["TRPM2","potential protein deficiency"]
["TRPV4","potential protein deficiency"]
["TSGA13","potential protein deficiency"]
["TSSK3","potential protein deficiency"]
["TTN","potential protein deficiency"]
["TUBAL3","potential protein deficiency"]
["UBE2D4","potential protein deficiency"]
["UBE2NL","potential protein deficiency"]
["UGT1A4","potential protein deficiency"]
["UNC13A","potential protein deficiency"]
["UNC5CL","potential protein deficiency"]
["UNC93A","potential protein deficiency"]
["UPF3B","potential protein deficiency"]
["USP29","potential protein deficiency"]
["USP45","potential protein deficiency"]
["USP9X","potential protein deficiency"]
["VCL","potential protein deficiency"]
["VSIG10","potential protein deficiency"]
["VSIG4","potential protein deficiency"]
["WFS1","potential protein deficiency"]
["WNK1","potential protein deficiency"]
["XDH","potential protein deficiency"]
["XKRX","potential protein deficiency"]
["YLPM1","potential protein deficiency"]
["ZACN","potential protein deficiency"]
["ZC3HC1","potential protein deficiency"]
["ZCCHC12","potential protein deficiency"]
["ZCCHC13","potential protein deficiency"]
["ZIM3","potential protein deficiency"]
["ZMYM3","potential protein deficiency"]
["ZNF117","potential protein deficiency"]
["ZNF292","potential protein deficiency"]
["ZNF407","potential protein deficiency"]
["ZNF41","potential protein deficiency"]
["ZNF468","potential protein deficiency"]
["ZNF480","potential protein deficiency"]
["ZNF534","potential protein deficiency"]
["ZNF543","potential protein deficiency"]
["ZNF544","potential protein deficiency"]
["ZNF594","potential protein deficiency"]
["ZNF626","potential protein deficiency"]
["ZNF674","potential protein deficiency"]
["ZNF711","potential protein deficiency"]
["ZNF717","potential protein deficiency"]
["ZNF75D","potential protein deficiency"]
["ZNF799","potential protein deficiency"]
["ZNF80","potential protein deficiency"]
["ZNF81","potential protein deficiency"]
["ZNF828","potential protein deficiency"]
["ZNF99","potential protein deficiency"]
["MAGEL2","prader-willi syndrome with autism"]
["PRB3","prb3s"]
["GLI3","preaxial polydactyly type 4"]
["BRCA2","pre-b-cell acute lymphoblastic leukemia"]
["FOXP3","preeclampsia"]
["EPHX1","preeclampsia  association with"]
["ERAP2","preeclampsia  association with"]
["HLA-G","preeclampsia  association with"]
["MTHFR","preeclampsia  association with"]
["TNFSF13B","preeclampsia  association with"]
["CD46","preeclampsia  in autoimmune disease"]
["KIR3DL2","preeclampsia  increased risk  association with"]
["KIR3DL2","preeclampsia  reduced risk  association with"]
["CLU","preeclampsia and essential hypertension  association with"]
["HLA-G","preeclampsia in multigravid pregnancies  association with"]
["AGT","preeclampsia, susceptibility to"]
["EPHX1","preeclampsia, susceptibility to"]
["STOX1","preeclampsia/eclampsia 4"]
["C4BPA","pregnancy loss  recurrent"]
["CD46","pregnancy loss  recurrent"]
["F2","pregnancy loss, recurrent, susceptibility to, 2"]
["F12","premature myocardial infarction  association with"]
["GDF9","premature ovarian failure  association with"]
["INHA","premature ovarian failure  association with"]
["POF1B","premature ovarian failure  association with"]
["GDF9","premature ovarian failure  increased risk  association with"]
["POF1B","premature ovarian failure 2b"]
["BMP15","premature ovarian failure 4"]
["NANOS3","premature ovarian insufficiency"]
["SERPINH1","premature rupture of membranes  association with"]
["COL1A1","prenatal cortical hyperostosis, lethal"]
["PLA2G4C","preterm birth  association with"]
["F5","preterm delivery  increased risk  association with"]
["LGALS13","preterm labour  association with"]
["MMP8","preterm premature rupture of membranes  association"]
["MMP1","preterm premature rupture of membranes  protection  association"]
["KL","priapism in sickle cell anaemia  association with"]
["CACNA1D","primary aldosteronism"]
["CACNA1D","primary aldosteronism, seizures, and neurologic abnormalities"]
["MCPH1","primary autosomal recessive microcephaly 1"]
["WDR62","primary autosomal recessive microcephaly 2"]
["CDK5RAP2","primary autosomal recessive microcephaly 3"]
["ASPM","primary autosomal recessive microcephaly 5"]
["CENPJ","primary autosomal recessive microcephaly 6"]
["STIL","primary autosomal recessive microcephaly 7"]
["CEP135","primary autosomal recessive microcephaly 8"]
["ABCB11","primary biliary cirrhosis  association with"]
["MMEL1","primary biliary cirrhosis  association with"]
["TOR1A","primary blepharospasm  spread  association with"]
["C19orf51","primary ciliary dyskinesia"]
["C21orf59","primary ciliary dyskinesia"]
["CCDC65","primary ciliary dyskinesia"]
["DYX1C1","primary ciliary dyskinesia"]
["SPAG1","primary ciliary dyskinesia"]
["ARMC4","primary ciliary dyskinesia 23"]
["RSPH1","primary ciliary dyskinesia 24"]
["DYX1C1","primary ciliary dyskinesia 25"]
["RSPH1","primary ciliary dyskinesia with central complex defects"]
["COQ9","primary coenzyme q10 deficiency  neonatal onset"]
["ABCC9","primary dilated cardiomyopathy"]
["ACTC1","primary dilated cardiomyopathy"]
["DES","primary dilated cardiomyopathy"]
["DSP","primary dilated cardiomyopathy"]
["LDB3","primary dilated cardiomyopathy"]
["LMNA","primary dilated cardiomyopathy"]
["MYBPC3","primary dilated cardiomyopathy"]
["MYH7","primary dilated cardiomyopathy"]
["PLN","primary dilated cardiomyopathy"]
["RBM20","primary dilated cardiomyopathy"]
["SCN5A","primary dilated cardiomyopathy"]
["TCAP","primary dilated cardiomyopathy"]
["TNNI3","primary dilated cardiomyopathy"]
["TNNT2","primary dilated cardiomyopathy"]
["TPM1","primary dilated cardiomyopathy"]
["TTN","primary dilated cardiomyopathy"]
["VCL","primary dilated cardiomyopathy"]
["ACTC1","primary familial hypertrophic cardiomyopathy"]
["GLA","primary familial hypertrophic cardiomyopathy"]
["LAMP2","primary familial hypertrophic cardiomyopathy"]
["LMNA","primary familial hypertrophic cardiomyopathy"]
["MYBPC3","primary familial hypertrophic cardiomyopathy"]
["MYH7","primary familial hypertrophic cardiomyopathy"]
["MYL2","primary familial hypertrophic cardiomyopathy"]
["MYL3","primary familial hypertrophic cardiomyopathy"]
["TNNI3","primary familial hypertrophic cardiomyopathy"]
["TNNT2","primary familial hypertrophic cardiomyopathy"]
["TPM1","primary familial hypertrophic cardiomyopathy"]
["CDH1","primary gastric diffuse large b-cell lymphoma  association"]
["AGXT","primary hyperoxaluria, type i"]
["HOGA1","primary hyperoxaluria, type iii"]
["PTH","primary hyperparathyroidism"]
["FIG4","primary lateral sclerosis  adult  1"]
["ALS2","primary lateral sclerosis  juvenile"]
["CDK5RAP2","primary microcephaly & sensorineural hearing loss"]
["MYOC","primary open angle glaucoma juvenile onset 1"]
["EIF4ENIF1","primary ovarian insufficiency"]
["SELP","primary vf during acute mi  association"]
["PRNP","prion disease  resistance to  association with"]
["PRNP","prion disease, susceptibility to"]
["ALB","proalbumin christchurch"]
["ALB","proalbumin fukuoka 3"]
["ALB","proalbumin gainesville"]
["ALB","proalbumin jaffna"]
["ALB","proalbumin malmo"]
["ALB","proalbumin takefu"]
["FBN1","progeroid facial features & lipodystrophy"]
["LMNA","progeroid syndrome  atypical"]
["SLC1A2","progressing stroke  increased risk  association with"]
["APOBEC3G","progression to aids  association with"]
["CRYGS","progressive cortical cataract  autosomal dominant"]
["C10orf2","progressive external ophthalmoplegia with mitochondrial dna deletions, digenic"]
["POLG","progressive external ophthalmoplegia with mitochondrial dna deletions, digenic"]
["SCN5A","progressive familial heart block type 1a"]
["TRPM4","progressive familial heart block type 1b"]
["ABCB11","progressive familial intrahepatic cholestasis 2"]
["ABCB4","progressive familial intrahepatic cholestasis 3"]
["DFNB59","progressive hearing loss  autosomal recessive"]
["LOXHD1","progressive hearing loss  nonsyndromic"]
["SMPX","progressive hearing loss  x-linked"]
["PRICKLE1","progressive myoclonus epilepsy with ataxia"]
["NUBPL","progressive nystagmus  cerebellar ataxia  pyramidal signs & slurred speech"]
["TGM6","progressive supranuclear palsy"]
["MAPT","progressive supranuclear palsy  association with"]
["STH","progressive supranuclear palsy  association with"]
["MAPT","progressive supranuclear palsy  atypical"]
["CYP2C19","proguanil, poor metabolism of"]
["SELS","proinflammatory cytokine levels"]
["INS","proinsulin kyoto"]
["INS","proinsulin providence"]
["AIP","prolactinoma, familial"]
["FLVCR2","proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"]
["PRB1","proline-rich protein prb1 deficiency"]
["PRB4","proline-rich protein prb4 deficiency"]
["BDKRB2","promoter activity  association with"]
["NR1I2","promoter activity  association with"]
["CFP","properdin deficiency, type ii"]
["CFP","properdin deficiency, type iii"]
["REN","prorenin elevation"]
["LRP2","prostate cancer"]
["TET2","prostate cancer"]
["CPA4","prostate cancer  aggressive early-onset  association with"]
["CCHCR1","prostate cancer  association with"]
["CYP19A1","prostate cancer  association with"]
["CYP1B1","prostate cancer  association with"]
["ELAC2","prostate cancer  association with"]
["FOLH1","prostate cancer  association with"]
["MSMB","prostate cancer  association with"]
["MSR1","prostate cancer  association with"]
["NKX3-1","prostate cancer  association with"]
["RNASEL","prostate cancer  association with"]
["TP53AIP1","prostate cancer  association with"]
["VEGFA","prostate cancer  association with"]
["CYP3A4","prostate cancer  higher grade  association  with"]
["HOXB13","prostate cancer  increased risk"]
["TLR4","prostate cancer  increased risk"]
["CDKN1B","prostate cancer  increased risk  association with"]
["KLK3","prostate cancer  increased risk  association with"]
["PON1","prostate cancer  increased risk  association with"]
["TLR10","prostate cancer  increased risk  association with"]
["CYP3A4","prostate cancer  low aggressiveness  association with"]
["MAGEC1","prostate cancer  predisposition to"]
["FOLH1","prostate cancer  protection against  association"]
["BCL2","prostate cancer  reduced risk  association with"]
["CDKN1B","prostate cancer  reduced risk  association with"]
["CYP17A1","prostate cancer  reduced risk  association with"]
["GDF15","prostate cancer  reduced risk  association with"]
["GPRC6A","prostate cancer  reduced risk  association with"]
["INS","prostate cancer  reduced risk  association with"]
["KLK4","prostate cancer  reduced risk  association with"]
["KLF6","prostate cancer  risk  association with"]
["HSD17B3","prostate cancer  susceptibility  association with"]
["PARP1","prostate cancer  susceptibility  association with"]
["BTNL2","prostate cancer  susceptibility to"]
["NBN","prostate cancer  susceptibility to"]
["PDE11A","prostate cancer  susceptibility to"]
["KLK15","prostate cancer aggressiveness  association with"]
["AMACR","prostate cancer risk  association with"]
["ICAM1","prostate cancer risk  association with"]
["POLR2E","prostate cancer risk  association with"]
["AR","prostate cancer susceptibility"]
["RNASEL","prostate cancer, hereditary, 1"]
["EHBP1","prostate cancer, hereditary, 12"]
["ELAC2","prostate cancer, hereditary, 2"]
["EPHB2","prostate cancer, progression and metastasis of"]
["CHEK2","prostate cancer, somatic"]
["KLF6","prostate cancer, somatic"]
["MAD1L1","prostate cancer, somatic"]
["CDH1","prostate cancer, susceptibility to"]
["CHEK2","prostate cancer, susceptibility to"]
["RNASEL","prostate cancer, susceptibility to"]
["EPHB2","prostate cancer, susceptibility to, in african americans"]
["PRNP","protection against creutzfeldt-jakob disease"]
["IL10","protection against malarial anaemia  association with"]
["EPB41","protein 4.1 lille"]
["EPB41","protein 4.1 madrid"]
["PROC","protein c deficiency  type i"]
["PROC","protein c deficiency  type ii"]
["PROS1","protein s deficiency  association with"]
["PROS1","protein s deficiency  type i"]
["PROS1","protein s deficiency  type i/iii"]
["PROS1","protein s deficiency  type iii"]
["PROS1","protein s heerlen"]
["NPHS2","proteinuria  asymptomatic"]
["ACACB","proteinuria in type 2 diabetes  association with"]
["CLCN5","proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis"]
["VWF","proteolysis by adamts13  susceptibility to"]
["AKT1","proteus syndrome, somatic"]
["F2","prothrombin type 3"]
["FECH","protoporphyria  erythropoietic"]
["FECH","protoporphyria  erythropoietic  association with"]
["ALAS2","protoporphyria, erythropoietic, x-linked"]
["ARX","proud levine carpenter syndrome"]
["MSH3","proximal colon cancer  increased risk  association with"]
["CNOT3","prpf31-related retinitis pigmentosa  modifier of"]
["ROM1","prph2-associated macular dystrophy modifier"]
["ABCC2","pruritis in biliary cirrhosis patients  association with"]
["GP1BA","pseudo von willebrand disease"]
["COMP","pseudoachondroaplasia"]
["COL9A3","pseudoachondroplasia"]
["COMP","pseudoachondroplasia, severe"]
["ARSB","pseudodeficient enzyme activity"]
["GLB1","pseudodeficient enzyme activity"]
["KRT75","pseudofolliculitis barbae  increased risk  association"]
["KRT75","pseudofolliculitis barbae, susceptibility to"]
["AR","pseudohermaphroditism  male"]
["HSD17B3","pseudohermaphroditism  male"]
["LHCGR","pseudohermaphroditism  male  incomplete"]
["NR3C1","pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance"]
["ABCB6","pseudohyperkalaemia  familial"]
["SCNN1B","pseudohypoaldosteronism  multi-system"]
["NR3C2","pseudohypoaldosteronism type 1 autosomal dominant"]
["SCNN1A","pseudohypoaldosteronism type 1 autosomal recessive"]
["SCNN1B","pseudohypoaldosteronism type 1 autosomal recessive"]
["WNK4","pseudohypoaldosteronism type 2b"]
["KLHL3","pseudohypoaldosteronism type 2d"]
["CUL3","pseudohypoaldosteronism type 2e"]
["GNAS","pseudohypoparathyroidism 1a  with testotoxicosis"]
["GNAS","pseudohypoparathyroidism type 1a"]
["GNAS","pseudohypoparathyroidism, type ia, with testotoxicosis"]
["DCTN4","pseudomonas aeruginosa infection in cystic fibrosis  increased risk"]
["FCGR2A","pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis"]
["ACOX1","pseudoneonatal adrenoleukodystrophy"]
["GNAS","pseudopseudohypoparathyroidism"]
["WISP3","pseudorheumatoid dysplasia  progressive"]
["ABCC6","pseudoxanthoma elasticum  association with"]
["ABCC6","pseudoxanthoma elasticum  autosomal dominant"]
["MRP6","pseudoxanthoma elasticum  autosomal dominant"]
["ABCC6","pseudoxanthoma elasticum  autosomal recessive"]
["MRP6","pseudoxanthoma elasticum  autosomal recessive"]
["ABCC6","pseudoxanthoma elasticum with angioid streaks"]
["XYLT1","pseudoxanthoma elasticum, modifier of severity of"]
["XYLT2","pseudoxanthoma elasticum, modifier of severity of"]
["SC4MOL","psoriasiform dermatitis  microcephaly & developmental delay"]
["CARMA2","psoriasis  association with"]
["CSTA","psoriasis  association with"]
["IL20RA","psoriasis  association with"]
["CARMA2","psoriasis  generalised pustular"]
["IL1F5","psoriasis  generalised pustular"]
["FLG","psoriasis  increased risk  association with"]
["IL23R","psoriasis  increased risk  association with"]
["TNF","psoriasis  juvenile onset  association with"]
["BSG","psoriasis  susceptibility  association with"]
["CDSN","psoriasis  susceptibility  association with"]
["SLC9A3R1","psoriasis  susceptibility  association with"]
["RNF114","psoriasis  susceptibility to"]
["ZNF750","psoriasis  susceptibility to"]
["CARMA2","psoriasis susceptibility  association with"]
["POL3S","psoriasis susceptibility  association with"]
["STAT2","psoriasis susceptibility  association with"]
["YDJC","psoriasis susceptibility  association with"]
["TRAF3IP2","psoriasis susceptibility 13"]
["CARD14","psoriasis susceptibility 2"]
["TRAF3IP2","psoriasis vulgaris  susceptibility to  assoc with"]
["IL23R","psoriasis, protection against"]
["VEGFA","psoriatic arthritis  protection against  association with"]
["DISC1","psychiatric disorders  association with"]
["CALR","psychosis  association with"]
["XRCC6","pterygium  association with"]
["VEGFA","pterygium formation  association with"]
["CHRNB1","pterygium syndrome  escobar variant"]
["CSF2RA","pulmonary alveolar proteinosis"]
["TBX4","pulmonary arterial hypertension"]
["TRPC6","pulmonary arterial hypertension  association with"]
["BMPR2","pulmonary arterial hypertension  exercise-induced"]
["VIP","pulmonary arterial hypertension  idiopathic  association with"]
["ACVRL1","pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia"]
["EIF2AK4","pulmonary capillary hemangiomatosis"]
["EPHX1","pulmonary disease, chronic obstructive, susceptibility to"]
["FUT8","pulmonary emphysema  association with"]
["TERT","pulmonary fibrosis  adult-onset"]
["MUC5AC","pulmonary fibrosis  association with"]
["SFTPA2","pulmonary fibrosis  idiopathic"]
["SFTPC","pulmonary fibrosis  idiopathic"]
["TERC","pulmonary fibrosis  idiopathic"]
["TERT","pulmonary fibrosis  idiopathic"]
["TERT","pulmonary fibrosis and/or bone marrow failure, telomere-related, 1"]
["TERC","pulmonary fibrosis and/or bone marrow failure, telomere-related, 2"]
["SFTPA1","pulmonary fibrosis, idiopathic, susceptibility to"]
["ACVRL1","pulmonary hypertension  haemorrhagic telangiectasia-associated"]
["ENG","pulmonary hypertension  haemorrhagic telangiectasia-associated"]
["ACVRL1","pulmonary hypertension  primary"]
["BMPR2","pulmonary hypertension  primary"]
["ENG","pulmonary hypertension  primary"]
["HTR2B","pulmonary hypertension  primary"]
["CPS1","pulmonary hypertension, neonatal, susceptibility to"]
["BMPR2","pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia"]
["SMAD9","pulmonary hypertension, primary, 2"]
["KCNK3","pulmonary hypertension, primary, 4"]
["BMPR2","pulmonary hypertension, primary, dexfenfluramine-associated"]
["BMPR2","pulmonary hypertension, primary, fenfluramine-associated"]
["MYBBP1A","pulmonary tuberculosis  association  with"]
["TOX","pulmonary tuberculosis  association  with"]
["SP110","pulmonary tuberculosis  association with"]
["SLC11A1","pulmonary tuberculosis  increased risk  association with"]
["CCL2","pulmonary tuberculosis  protection  association with"]
["CRYGD","punctate cataract  juvenile progressive"]
["OPN4","pupillary light response  association with"]
["PNP","purine-nucleoside phosphorylase deficiency"]
["IL36RN","pustular psoriasis, generalized"]
["TRPC6","pyloric stenosis  infantile hypertrophic  association with"]
["PSTPIP1","pyogenic arthritis, pyoderma gangrenosum and acne"]
["PNPO","pyridoxal 5'-phosphate-dependent epilepsy"]
["ALDH7A1","pyridoxine-dependent epilepsy"]
["ALDH18A1","pyrroline-5-carboxylate synthetase deficiency"]
["PC","pyruvate carboxylase deficiency  type b"]
["PDHA1","pyruvate dehydrogenase e1-alpha deficiency"]
["PDHX","pyruvate dehydrogenase e3-binding protein deficiency"]
["PKLR","pyruvate kinase deficiency, amish type"]
["CASQ2","qrs interval  association with"]
["SCN10A","qrs interval  association with"]
["KCNQ1","qt interval prolongation"]
["TAS2R19","quinine taste sensitivity  association with"]
["ERMAP","radin blood group"]
["CYP26B1","radiohumeral fusions with other skeletal and craniofacial anomalies"]
["ERAP1","raised blood pressure  association with"]
["ERAP1","raised blood pressure  reduced risk  association with"]
["RECQL4","rapadilino syndrome"]
["TP63","rapp-hodgkin ectodermal dysplasia syndrome"]
["BRAF","rasopathy"]
["CBL","rasopathy"]
["HRAS","rasopathy"]
["KRAS","rasopathy"]
["PTPN11","rasopathy"]
["RAF1","rasopathy"]
["SHOC2","rasopathy"]
["SOS1","rasopathy"]
["SPRED1","rasopathy"]
["DRD5","receptor deficiency"]
["KIR3DL1","receptor surface expression"]
["CCKAR","receptor variant"]
["CHRM1","receptor variant"]
["DRD5","receptor variant"]
["ABCD3","reclassified - variant of unknown significance","NULL"]
["ADA","reclassified - variant of unknown significance","NULL"]
["ALOXE3","reclassified - variant of unknown significance","NULL"]
["BRCA2","reclassified - variant of unknown significance","NULL"]
["CDH23","reclassified - variant of unknown significance","NULL"]
["CLCN2","reclassified - variant of unknown significance","NULL"]
["COL1A2","reclassified - variant of unknown significance","NULL"]
["DSC2","reclassified - variant of unknown significance","NULL"]
["ENPP1","reclassified - variant of unknown significance","NULL"]
["FBN1","reclassified - variant of unknown significance","NULL"]
["FGF8","reclassified - variant of unknown significance","NULL"]
["FKTN","reclassified - variant of unknown significance","NULL"]
["GLA","reclassified - variant of unknown significance","NULL"]
["GLO1","reclassified - variant of unknown significance","NULL"]
["H6PD","reclassified - variant of unknown significance","NULL"]
["HSD11B1","reclassified - variant of unknown significance","NULL"]
["KCNE3","reclassified - variant of unknown significance","NULL"]
["MEFV","reclassified - variant of unknown significance","NULL"]
["MLH1","reclassified - variant of unknown significance","NULL"]
["MLH3","reclassified - variant of unknown significance","NULL"]
["NDUFV2","reclassified - variant of unknown significance","NULL"]
["NKX2-5","reclassified - variant of unknown significance","NULL"]
["OPRM1","reclassified - variant of unknown significance","NULL"]
["PIGR","reclassified - variant of unknown significance","NULL"]
["PRSS1","reclassified - variant of unknown significance","NULL"]
["SELE","reclassified - variant of unknown significance","NULL"]
["SNCAIP","reclassified - variant of unknown significance","NULL"]
["TF","reclassified - variant of unknown significance","NULL"]
["TG","reclassified - variant of unknown significance","NULL"]
["THBD","reclassified - variant of unknown significance","NULL"]
["UCHL1","reclassified - variant of unknown significance","NULL"]
["VSX1","reclassified - variant of unknown significance","NULL"]
["RAG1","recombination activating gene 1 polymorphism"]
["RNF212","recombination rate quantitative trait locus 1"]
["BLM","rectal cancer  association with"]
["RPA2","rectal cancer  increased risk"]
["GTF2H1","rectal cancer risk  association with"]
["NRAS","rectal cancer, somatic"]
["F13A1","recurrent miscarriage  association with"]
["FCGR3A","recurrent respiratory tract infection  association"]
["CTRL","red blood cell count  association with"]
["HLA-DQA1","red blood cell count  association with"]
["IMP5","red blood cell count  association with"]
["KIAA1267","red blood cell count  association with"]
["TRIM58","red blood cell count  association with"]
["OPN1LW","red cone polymorphism"]
["MC1R","red hair  increased risk"]
["POR","reduced 17 20 lyase activity"]
["BRCA1","reduced 3'utr activity"]
["OGG1","reduced 8-oxog incision activity"]
["WNT10B","reduced abdominal fat levels  association with"]
["ABP1","reduced activity"]
["AHCY","reduced activity"]
["AKR1C4","reduced activity"]
["ARSB","reduced activity"]
["CETP","reduced activity"]
["CHEK2","reduced activity"]
["CHRNA5","reduced activity"]
["CMPK1","reduced activity"]
["COX4I1","reduced activity"]
["CPA1","reduced activity"]
["CPA6","reduced activity"]
["CTRC","reduced activity"]
["CYP19A1","reduced activity"]
["CYP1A2","reduced activity"]
["CYP2E1","reduced activity"]
["DCK","reduced activity"]
["DCTD","reduced activity"]
["DDX58","reduced activity"]
["DNASE2","reduced activity"]
["ESR2","reduced activity"]
["FUT1","reduced activity"]
["GAA","reduced activity"]
["GBA","reduced activity"]
["GLA","reduced activity"]
["GLB1","reduced activity"]
["GLYAT","reduced activity"]
["GPR81","reduced activity"]
["GSTA2","reduced activity"]
["GSTA3","reduced activity"]
["GSTM3","reduced activity"]
["HBA2","reduced activity"]
["IFIH1","reduced activity"]
["MCHR1","reduced activity"]
["MUTYH","reduced activity"]
["NDOR1","reduced activity"]
["NEIL1","reduced activity"]
["NODAL","reduced activity"]
["PAX8","reduced activity"]
["PKLR","reduced activity"]
["PLA2G7","reduced activity"]
["PNMT","reduced activity"]
["PNPLA2","reduced activity"]
["POLB","reduced activity"]
["PPOX","reduced activity"]
["PTGS1","reduced activity"]
["PTPN22","reduced activity"]
["RAD51C","reduced activity"]
["SOS1","reduced activity"]
["SULT1A1","reduced activity"]
["SULT1C1","reduced activity"]
["SULT2B1","reduced activity"]
["TGM2","reduced activity"]
["TIRAP","reduced activity"]
["TLR1","reduced activity"]
["TLR2","reduced activity"]
["TLR6","reduced activity"]
["UGT1A10","reduced activity"]
["UGT1A6","reduced activity"]
["UGT1A8","reduced activity"]
["UGT1A9","reduced activity"]
["vWF-CP","reduced activity"]
["ZFPM2","reduced activity"]
["BRCA1","reduced activity  association with"]
["DDX58","reduced activity  association with"]
["GPR81","reduced activity and impaired cell surface expression"]
["USF1","reduced adiposity indices  in women  association with"]
["GLP1R","reduced agonist responsiveness  association with"]
["PER2","reduced alcohol consumption  association with"]
["ADH1B","reduced alcohol metabolism  association with"]
["ADH1C","reduced alcohol metabolism  association with"]
["SCNN1B","reduced aldosterone excretion  association with"]
["APOA4","reduced apoa1 plasma concentration during postprandial lipid metabolism"]
["TP53","reduced apoptotic ability  association with"]
["ABCG2","reduced atpase activity"]
["CHD7","reduced atpase activity"]
["ABCG2","reduced atpase activity  association with"]
["GIPR","reduced basal activity"]
["KCNK18","reduced basal current"]
["GCK","reduced beta-cell function  association with"]
["LCT","reduced binding activity"]
["ESR2","reduced binding affinity  association with"]
["LBP","reduced binding capacity for lps and lipopeptides"]
["BDKRB2","reduced blood pressure  association with"]
["TBXA2R","reduced blood pressure  association with"]
["INSIG2","reduced bmi  association with"]
["SOCS1","reduced bmi  association with"]
["IGF2","reduced bmi  in adult males  association with"]
["PLA2G2D","reduced bmi  in copd  association with"]
["BMI1","reduced bmi-1 levels"]
["MYBL2","reduced cancer risk  association with"]
["ALOX15","reduced catalytic activity"]
["FMO3","reduced catalytic activity"]
["GGH","reduced catalytic activity"]
["NAT1","reduced catalytic activity"]
["SIAE","reduced catalytic activity"]
["UGT1A7","reduced catalytic activity"]
["UGT1A7","reduced catalytic activity  association with"]
["MC3R","reduced cell surface and total expression"]
["MC3R","reduced cell surface and total expression  decreased maximal binding"]
["MC3R","reduced cell surface expression"]
["MC3R","reduced cell surface expression and defective ligand binding/signalling"]
["ERCC6","reduced chromosomal damage in coke oven workers  association with"]
["CPLX2","reduced cognitive performance  in schizophrenia  association with"]
["HLA-DOA","reduced crossover rate"]
["SLC26A9","reduced current and chloride ion transport"]
["CYP2A6","reduced cyp2a6 activity"]
["DBH","reduced dbh activity"]
["CHGA","reduced diastolic blood pressure  association with"]
["INSR","reduced diastolic blood pressure  association with"]
["HSP90AA1","reduced dimerization"]
["ABCC2","reduced efflux activity"]
["DLX6","reduced enhancer activity"]
["SLC30A8","reduced enhancer activity"]
["AADAC","reduced enzyme activity"]
["AKR1C3","reduced enzyme activity"]
["AKR7A2","reduced enzyme activity"]
["ALDH5A1","reduced enzyme activity"]
["ARSA","reduced enzyme activity"]
["AS3MT","reduced enzyme activity"]
["CHIT1","reduced enzyme activity"]
["CYP24A1","reduced enzyme activity"]
["CYP27B1","reduced enzyme activity"]
["CYP2D6","reduced enzyme activity"]
["DNASE1L3","reduced enzyme activity"]
["FUT2","reduced enzyme activity"]
["GSTO1","reduced enzyme activity"]
["MME","reduced enzyme activity"]
["MTHFR","reduced enzyme activity"]
["NEU2","reduced enzyme activity"]
["NT5C3","reduced enzyme activity"]
["SULT1A3","reduced enzyme activity"]
["UGT2A3","reduced enzyme activity"]
["UGT2B10","reduced enzyme activity"]
["WRN","reduced enzyme activity"]
["MASP2","reduced enzyme activity  association with"]
["AKR1C3","reduced enzyme activity with daun"]
["AKR1C3","reduced enzyme activity with dox/daun"]
["ABCC3","reduced event-free survival  in acute lymphoblastic leukaemia  association with"]
["APOH","reduced expression"]
["APP","reduced expression"]
["C4BPA","reduced expression"]
["CCKAR","reduced expression"]
["CDKN2A","reduced expression"]
["CYB5A","reduced expression"]
["CYP11B1","reduced expression"]
["CYP2C19","reduced expression"]
["DAO","reduced expression"]
["FAS","reduced expression"]
["FTH1","reduced expression"]
["GSTM3","reduced expression"]
["IRF1","reduced expression"]
["MC3R","reduced expression"]
["MITF","reduced expression"]
["MYC","reduced expression"]
["NAMPT","reduced expression"]
["NEIL2","reduced expression"]
["NR3C2","reduced expression"]
["P2RX4","reduced expression"]
["SLC19A1","reduced expression"]
["SPR","reduced expression"]
["TFPI","reduced expression"]
["TLR4","reduced expression"]
["TNFAIP2","reduced expression"]
["NDUFB6","reduced expression  in the elderly  association with"]
["KIR3DL1","reduced expression levels"]
["F9","reduced factor ix level in females"]
["GIPR","reduced fasting serum c-peptide concentration  association"]
["FMO3","reduced fmo activity"]
["SLC22A12","reduced fractional excretion of uric acid  association"]
["APAF1","reduced function"]
["CACNA1A","reduced function"]
["OXTR","reduced function"]
["SLC29A2","reduced function"]
["TST","reduced function"]
["CRISP2","reduced ggn1 binding activity"]
["IRS2","reduced haemoglobin a1c levels"]
["EGLN1","reduced haemoglobin levels  association with"]
["LPL","reduced hdl level in atherosclerosis  association"]
["CYB5R3","reduced hemolysis  in sickle cell disease  association with"]
["HLA-C","reduced hiv viral load  association with"]
["GSTM3","reduced igg titer levels in serum against helicobacter pylori  association with"]
["NR3C1","reduced insulin and cholesterol levels  association"]
["UTS2","reduced insulin sensitivity  association with"]
["SLC26A4","reduced ion transport activity"]
["UMOD","reduced kidney function  hyperuricaemia and impaired urine-concentrating ability"]
["PRKACA","reduced kinase activity"]
["LIPG","reduced lipase activity"]
["NINJ1","reduced mrna levels"]
["CYP26A1","reduced mrna splicing efficiency"]
["OSR1","reduced newborn kidney size and function  association"]
["LRP5","reduced norrin signalling activity"]
["IL1B","reduced nuclear protein binding"]
["SLC26A6","reduced oxalate transport activity"]
["PAPSS2","reduced papss activity"]
["PHLPP2","reduced phosphatase activity"]
["AKAP5","reduced physical aggression  association with"]
["F7","reduced plasma f7 levels  association with"]
["LCAT","reduced plasma hdl cholesterol  association with"]
["WWOX","reduced plasma hdl cholesterol  association with"]
["APOA2","reduced plasma ldl cholesterol in fh  association with"]
["REN","reduced plasma renin activity"]
["MLXIPL","reduced plasma triglyceride levels  association with"]
["PLAT","reduced plat release rate"]
["ITGA2B","reduced post-stroke mortality  association with"]
["GPR81","reduced potency and impaired cell surface expression"]
["UNC5C","reduced proapoptotic activity"]
["GFPT1","reduced promoter actiivity"]
["ABCB4","reduced promoter activity"]
["ACACB","reduced promoter activity"]
["AGRP","reduced promoter activity"]
["BDNF","reduced promoter activity"]
["BRCA1","reduced promoter activity"]
["CDH1","reduced promoter activity"]
["CETP","reduced promoter activity"]
["CYBA","reduced promoter activity"]
["CYP19A1","reduced promoter activity"]
["CYP2A13","reduced promoter activity"]
["CYP2C19","reduced promoter activity"]
["CYP2C9","reduced promoter activity"]
["DNASE2","reduced promoter activity"]
["DNM3","reduced promoter activity"]
["EPHX1","reduced promoter activity"]
["ESR2","reduced promoter activity"]
["F7","reduced promoter activity"]
["FMO1","reduced promoter activity"]
["FPR2","reduced promoter activity"]
["GAL","reduced promoter activity"]
["GBA","reduced promoter activity"]
["GHRHR","reduced promoter activity"]
["GJB1","reduced promoter activity"]
["GSTM4","reduced promoter activity"]
["GSTT2","reduced promoter activity"]
["GUSB","reduced promoter activity"]
["HTR2C","reduced promoter activity"]
["KIF5B","reduced promoter activity"]
["MICB","reduced promoter activity"]
["NPSR1","reduced promoter activity"]
["NR3C1","reduced promoter activity"]
["OPRM1","reduced promoter activity"]
["PDE7B","reduced promoter activity"]
["PRKCB","reduced promoter activity"]
["PYY","reduced promoter activity"]
["RAC1","reduced promoter activity"]
["RBM8A","reduced promoter activity"]
["SCAP","reduced promoter activity"]
["SLC47A1","reduced promoter activity"]
["TERT","reduced promoter activity"]
["TPH2","reduced promoter activity"]
["TST","reduced promoter activity"]
["TYR","reduced promoter activity"]
["UGT1A7","reduced promoter activity"]
["PTGS2","reduced promoter activity  association with"]
["CPA6","reduced protein expression"]
["NHLH2","reduced protein expression"]
["NPR3","reduced protein expression"]
["SLC26A9","reduced protein expression"]
["ICAM1","reduced protein stability"]
["PROZ","reduced protein z concentration"]
["SULT1A1","reduced pst activity"]
["EDNRA","reduced pulmonary function  in cystic fibrosis  association with"]
["CHRNA7","reduced receptor activity"]
["MC3R","reduced receptor activity"]
["TBXA2R","reduced receptor expression"]
["KLF11","reduced repression of catalase i transcription"]
["KLF11","reduced repression of insulin & catalase i transcription"]
["BHMT","reduced risk of coronary artery disease  association"]
["ABCA1","reduced risk of coronary artery disease  association with"]
["LIG4","reduced risk of multiple myeloma  association"]
["ERCC2","reduced risk oligodendroglioma development  association"]
["P2RX7","reduced sensitivity to calcium inhibition"]
["DRD4","reduced sensitivity to clozapine  association with"]
["HTR2A","reduced sensitivity to clozapine  association with"]
["ADORA3","reduced sert activity"]
["SLC5A11","reduced serum myo-inositol concentration"]
["ABCG8","reduced serum noncholesterol sterols  association with"]
["CHIA","reduced serum total ige in atopic asthma  association with"]
["CSF2","reduced severity in atopic dermatitis  association with"]
["NPSR1","reduced signalling"]
["PCMT1","reduced stability"]
["STAR","reduced steroidogenesis  association with"]
["KIF5B","reduced stroke volume training response  association with"]
["FASN","reduced substrate oxidation rate  association with"]
["TAS1R2","reduced sugar consumption in obesity  association"]
["FECH","reduced transcription"]
["ITGA2","reduced transcription"]
["MMP2","reduced transcription"]
["SFTPB","reduced transcription"]
["SSTR2","reduced transcription"]
["ABCB1","reduced transcriptional activity"]
["ABCC3","reduced transcriptional activity"]
["BGN","reduced transcriptional activity"]
["CHGB","reduced transcriptional activity"]
["CYP2A6","reduced transcriptional activity"]
["DEFB1","reduced transcriptional activity"]
["FMO3","reduced transcriptional activity"]
["GH1","reduced transcriptional activity"]
["GLI2","reduced transcriptional activity"]
["GPX1","reduced transcriptional activity"]
["GRK4","reduced transcriptional activity"]
["GSTT1","reduced transcriptional activity"]
["MTHFD1","reduced transcriptional activity"]
["MTTP","reduced transcriptional activity"]
["NR1I2","reduced transcriptional activity"]
["NR3C1","reduced transcriptional activity"]
["SEL1L","reduced transcriptional activity"]
["TH","reduced transcriptional activity"]
["TIRAP","reduced transcriptional activity"]
["DRD4","reduced transcriptional efficiency"]
["CDH1","reduced transcriptional efficiency  association"]
["ABCB11","reduced transport activity"]
["SLC13A2","reduced transport activity"]
["SLC17A3","reduced transport activity"]
["SLC17A5","reduced transport activity"]
["SLC22A3","reduced transport activity"]
["SLC22A4","reduced transport activity"]
["SLC28A2","reduced transport activity"]
["SLC36A2","reduced transport activity"]
["SLC47A1","reduced transport activity"]
["SLC47A2","reduced transport activity"]
["SLC4A4","reduced transport activity"]
["SLC6A20","reduced transport activity"]
["ANGPTL4","reduced triglycerides, susceptibility to"]
["SLC6A4","reduced uptake activity"]
["KLK1","reduced urinary kallikrein activity"]
["VWF","reduced vwf plasma protein levels"]
["AQP4","reduced water permeability"]
["GHSR","reduced weight loss during fasting  association with"]
["SLC30A2","reduced zinc in breast milk"]
["PEX1","refsum disease  infantile"]
["PEX26","refsum disease  infantile"]
["PEX3","refsum disease  infantile"]
["PEX5","refsum disease  infantile"]
["PXMP3","refsum disease  infantile"]
["PHYH","refsum disease, adult, 1"]
["RET","renal adysplasia"]
["CDKN2B","renal cancer"]
["HIF1A","renal carcinoma  association with"]
["SLC2A1","renal carcinoma  association with"]
["MTOR","renal cell cancer  reduced risk  association with"]
["MSH2","renal cell carcinoma"]
["CCND1","renal cell carcinoma  association with"]
["XRCC6","renal cell carcinoma  increased risk  association with"]
["GEMIN4","renal cell carcinoma  reduced risk  association with"]
["VHL","renal cell carcinoma with paraneoplastic erythrocytosis"]
["HNF1A","renal cell carcinoma, chromophobe"]
["OGG1","renal cell carcinoma, clear cell, somatic"]
["MET","renal cell carcinoma, papillary, 1"]
["VHL","renal cell carcinoma, somatic"]
["BAP1","renal cell carcinoma/cutaneous melanoma/uveal melanoma"]
["BAP1","renal cell carcinoma/cutaneous melanoma/uveal melanoma/mesothelioma"]
["BAP1","renal cell carcinoma/mesothelioma/uveal melanoma"]
["BAP1","renal cell carcinoma/uveal melanoma"]
["PAX2","renal coloboma syndrome"]
["VPS33B","renal dysfunction  cholestasis & ichthyosis"]
["IGFBP1","renal function in diabetes  association with"]
["WNT4","renal hypodysplasia"]
["DSTYK","renal hypodysplasia  ureteropelvic junction obstruction & vesicoureteral reflux"]
["DSTYK","renal hypodysplasia, nonsyndromic, 1"]
["PAX2","renal hypoplasia, isolated"]
["SLC2A9","renal hypouricemia 2"]
["EYA1","renal malformation"]
["IL8","renal manifestations in henoch-schoenlein purpura  association with"]
["DRD1","renal traits  association with"]
["ATP6V1B1","renal tubular acidosis  sensorineural deafness"]
["SLC4A1","renal tubular acidosis, autosomal dominant"]
["SLC4A1","renal tubular acidosis, distal, autosomal dominant"]
["ATP6V0A4","renal tubular acidosis, distal, autosomal recessive"]
["ATP6V0A4","renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss"]
["SLC4A1","renal tubular acidosis, distal, with hemolytic anemia"]
["SLC4A1","renal tubular acidosis, distal, with normal red cell morphology"]
["ATP6V1B1","renal tubular acidosis, distal, with progressive deafness"]
["SLC4A4","renal tubular acidosis, proximal, with ocular abnormalities and mental retardation"]
["NEK8","renal-hepatic-pancreatic dysplasia 2"]
["AURKB","reproductive difficulties"]
["DARC","resistance to plasmodium vivax infection"]
["APOL1","resistance to trypanosoma brucei rhodesiense parasite  association with"]
["BOLA3","respiratory chain & 2-oxoacid dehydrogenase deficiency  combined"]
["NFU1","respiratory chain & 2-oxoacid dehydrogenase deficiency  combined"]
["ATP5A1","respiratory chain deficiency  combined"]
["TRMU","respiratory chain deficiency  reversible infantile"]
["DCDC2","respiratory disease  aspirin-exacerbated"]
["HLA-DPB1","respiratory disease  aspirin-exacerbated"]
["TSC1","respiratory disease  aspirin-exacerbated  association with"]
["KRT75","respiratory disease  aspirin-exacerbated  reduced risk"]
["ABCA3","respiratory distress  neonatal"]
["NKX2-1","respiratory distress  neonatal"]
["SFTPC","respiratory failure  neonatal"]
["CFTR","respiratory/pancreatic disease  association with"]
["ADRB1","resting heart rate"]
["ATRN","restless legs syndrome"]
["PTPRD","restless legs syndrome  association with"]
["PDE6H","retinal cone dystrophy 3a"]
["GUCA1A","retinal degeneration"]
["PCDH21","retinal degeneration"]
["AIPL1","retinal degeneration  late-onset"]
["MFRP","retinal degeneration  late-onset"]
["RPGRIP1L","retinal degeneration in ciliopathies  association with"]
["ABCA4","retinal disease"]
["SLC24A1","retinal disease"]
["SLC24A2","retinal disease"]
["CACNA1F","retinal disorder  x-linked"]
["FAM161A","retinal dystrophy"]
["GUCA1B","retinal dystrophy  autosomal dominant"]
["RPE65","retinal dystrophy  autosomal recessive"]
["RPE65","retinal dystrophy  childhood onset"]
["OTX2","retinal dystrophy  early onset"]
["CRB1","retinal dystrophy  early-onset"]
["LCA5","retinal dystrophy  early-onset"]
["LRAT","retinal dystrophy  early-onset"]
["LRAT","retinal dystrophy  early-onset severe"]
["RPE65","retinal dystrophy  severe  childhood onset"]
["ADAMTS18","retinal dystrophy  severe  early onset"]
["ABCA4","retinal dystrophy, early-onset severe"]
["LRAT","retinal dystrophy, early-onset severe, lrat-related"]
["SPATA7","retiniitis pigmentosa  juvenile"]
["BBS7","retinitis pigmentosa"]
["DFNB31","retinitis pigmentosa"]
["KIAA0090","retinitis pigmentosa"]
["NEK2","retinitis pigmentosa"]
["PRKCG","retinitis pigmentosa"]
["VCAN","retinitis pigmentosa"]
["RHO","retinitis pigmentosa  association with"]
["GUCA1A","retinitis pigmentosa  atypical"]
["GUCA1B","retinitis pigmentosa  atypical"]
["CA4","retinitis pigmentosa  autosomal dominant"]
["CRX","retinitis pigmentosa  autosomal dominant"]
["FSCN2","retinitis pigmentosa  autosomal dominant"]
["PRPF31","retinitis pigmentosa  autosomal dominant"]
["PRPF6","retinitis pigmentosa  autosomal dominant"]
["RHO","retinitis pigmentosa  autosomal dominant"]
["RP1","retinitis pigmentosa  autosomal dominant"]
["RPGR","retinitis pigmentosa  autosomal dominant"]
["SNRNP200","retinitis pigmentosa  autosomal dominant"]
["TOPORS","retinitis pigmentosa  autosomal dominant"]
["ARL2BP","retinitis pigmentosa  autosomal recessive"]
["C2orf71","retinitis pigmentosa  autosomal recessive"]
["CRB1","retinitis pigmentosa  autosomal recessive"]
["DHDDS","retinitis pigmentosa  autosomal recessive"]
["EYS","retinitis pigmentosa  autosomal recessive"]
["FAM161A","retinitis pigmentosa  autosomal recessive"]
["IMPG2","retinitis pigmentosa  autosomal recessive"]
["RLBP1","retinitis pigmentosa  autosomal recessive"]
["RP1","retinitis pigmentosa  autosomal recessive"]
["USH2A","retinitis pigmentosa  autosomal recessive"]
["ZNF513","retinitis pigmentosa  autosomal recessive"]
["C2orf71","retinitis pigmentosa  cone-rod dystrophy type"]
["PDE6G","retinitis pigmentosa  early-onset"]
["RP1","retinitis pigmentosa  early-onset"]
["TULP1","retinitis pigmentosa  early-onset"]
["CRB1","retinitis pigmentosa  early-onset / leber congenital amaurosis"]
["RPGRIP1","retinitis pigmentosa  isolated"]
["RDH12","retinitis pigmentosa  juvenile-onset"]
["RPE65","retinitis pigmentosa  juvenile-onset"]
["MYO7A","retinitis pigmentosa  mild & deafness"]
["IQCB1","retinitis pigmentosa  modifier of"]
["RPGRIP1L","retinitis pigmentosa  modifier of"]
["CRB1","retinitis pigmentosa  nanophthalmos & optic disc drusen"]
["BBS1","retinitis pigmentosa  nonsyndromic"]
["CLRN1","retinitis pigmentosa  nonsyndromic"]
["USH2A","retinitis pigmentosa  recessive  no hearing loss"]
["OFD1","retinitis pigmentosa  x-linked"]
["RP2","retinitis pigmentosa  x-linked"]
["RPGR","retinitis pigmentosa 15"]
["CA4","retinitis pigmentosa 17"]
["FAM161A","retinitis pigmentosa 28"]
["NR2E3","retinitis pigmentosa 37"]
["MERTK","retinitis pigmentosa 38"]
["USH2A","retinitis pigmentosa 39"]
["RHO","retinitis pigmentosa 4"]
["RHO","retinitis pigmentosa 4, autosomal recessive"]
["PDE6B","retinitis pigmentosa 40"]
["PDE6A","retinitis pigmentosa 43"]
["RGR","retinitis pigmentosa 44"]
["CNGB1","retinitis pigmentosa 45"]
["GUCA1B","retinitis pigmentosa 48"]
["CNGA1","retinitis pigmentosa 49"]
["BEST1","retinitis pigmentosa 50"]
["RDH12","retinitis pigmentosa 53"]
["ZNF513","retinitis pigmentosa 58"]
["DHDDS","retinitis pigmentosa 59"]
["RBP3","retinitis pigmentosa 66"]
["PRPH2","retinitis pigmentosa 7, digenic"]
["PRPH2","retinitis pigmentosa 7, with bull's-eye maculopathy"]
["RPGRIP1L","retinitis pigmentosa in ciliopathies, modifier of"]
["ARL2BP","retinitis pigmentosa without situs inversus"]
["BEST1","retinitis pigmentosa, concentric"]
["RPGR","retinitis pigmentosa, x-linked, and sinorespiratory infections, with deafness"]
["CLRN1","retinitis pigmentosa-deafness syndrome"]
["DFNB31","retinitis pigmentosa-deafness syndrome"]
["GPR98","retinitis pigmentosa-deafness syndrome"]
["MYO7A","retinitis pigmentosa-deafness syndrome"]
["USH1G","retinitis pigmentosa-deafness syndrome"]
["USH2A","retinitis pigmentosa-deafness syndrome"]
["MDMX","retinoblastoma  association with"]
["RB1","retinoblastoma, trilateral"]
["AKR1B1","retinopathy in diabetic patients  association with"]
["FZD4","retinopathy of prematurity  increased risk"]
["RS1","retinoschisis  x linked"]
["RS1","retinoschisis  x linked juvenile"]
["CDKL5","rett syndrome  atypical"]
["MECP2","rett syndrome  atypical"]
["MECP2","rett syndrome  preserved speech variant"]
["CDKL5","rett syndrome  variant  with infantile spasms"]
["TCF4","rett syndrome  variant / pitt-hopkins syndrome"]
["FOXG1","rett syndrome, congenital variant"]
["MECP2","rett syndrome, zappella variant"]
["FOXG1","rett-like syndrome"]
["TINF2","revesz syndrome"]
["RHCE","rh c/c polymorphism"]
["RHD","rhd category d-vii"]
["RHD","rhd, weak d, type i"]
["LASS2","rhegmatogenous retinal detachment  reduced risk"]
["COL2A1","rhegmatogenous retinal detachment, autosomal dominant"]
["IRF5","rheumatoid arthritis"]
["APOM","rheumatoid arthritis  association with"]
["HAVCR1","rheumatoid arthritis  association with"]
["IL3","rheumatoid arthritis  association with"]
["MICA","rheumatoid arthritis  association with"]
["NR3C1","rheumatoid arthritis  association with"]
["PADI4","rheumatoid arthritis  association with"]
["PTPN22","rheumatoid arthritis  association with"]
["TAGAP","rheumatoid arthritis  association with"]
["TAP2","rheumatoid arthritis  association with"]
["TNFRSF14","rheumatoid arthritis  association with"]
["TNFSF11","rheumatoid arthritis  earlier onset  association with"]
["NFKBIA","rheumatoid arthritis  increased risk  association with"]
["NLRP1","rheumatoid arthritis  increased risk  association with"]
["IL1A","rheumatoid arthritis  juvenile  association with"]
["TAPBP","rheumatoid arthritis  juvenile  association with"]
["CD2","rheumatoid arthritis  reduced risk"]
["ZFP36","rheumatoid arthritis  shorter duration  association with"]
["AIRE","rheumatoid arthritis  susceptibility  association"]
["BTLA","rheumatoid arthritis  susceptibility  association"]
["BTNL2","rheumatoid arthritis  susceptibility  association"]
["HLA-B","rheumatoid arthritis  susceptibility  association"]
["HLA-DPB1","rheumatoid arthritis  susceptibility  association"]
["LGALS3","rheumatoid arthritis  susceptibility  association"]
["NFKBIL1","rheumatoid arthritis  susceptibility  association"]
["RUNX1","rheumatoid arthritis  susceptibility  association"]
["SLC22A4","rheumatoid arthritis  susceptibility  association"]
["NFKBIE","rheumatoid arthritis  susceptibility to  association with"]
["RTKN2","rheumatoid arthritis  susceptibility to  association with"]
["GNPAT","rhizomelic chondrodysplasia punctata  type 2"]
["AGPS","rhizomelic chondrodysplasia punctata  type 3"]
["PEX7","rhizomelic chondrodysplasia punctata type 1"]
["GNPAT","rhizomelic chondrodysplasia punctata type 2"]
["AGPS","rhizomelic chondrodysplasia punctata type 3"]
["RHAG","rh-null hemolytic anemia, regulator type"]
["LRP4","richter syndrome  increased risk  association with"]
["DMP1","rickets  hypophosphataemic"]
["ENPP1","rickets  hypophosphataemic"]
["PHEX","rickets  hypophosphataemic"]
["FGF23","rickets  hypophosphataemic  autosomal dominant"]
["DMP1","rickets  hypophosphataemic  autosomal recessive"]
["ENPP1","rickets  hypophosphataemic  autosomal recessive"]
["ENPP1","rickets  hypophosphataemic & opll"]
["CYP27B1","rickets  vitamin d dependent  type i"]
["CYP27B1","rickets  vitamin d dependent  type ia"]
["VDR","rickets  vitamin d dependent  type ii"]
["VDR","rickets  vitamin d resistant"]
["VDR","rickets  vitamin d resistant  with alopecia"]
["VDR","rickets  vitamin d resistant  without alopecia"]
["FOXC1","rieger anomaly  with glaucoma"]
["CAV3","rippling muscle disease 2"]
["CAV3","rippling muscle disease 2, autosomal recessive"]
["KIAA0196","ritscher-schinzel syndrome"]
["WNT5A","robinow syndrome  autosomal dominant"]
["ROR2","robinow syndrome  autosomal recessive"]
["ROR2","robinow syndrome  recessive with brachydactyly type b"]
["ROR2","robinow syndrome, autosomal recessive, with brachy-syn-polydactyly"]
["MERTK","rod-cone dystrophy  childhood onset"]
["CRB1","rod-cone dystrophy  early-onset"]
["GRIN2A","rolandic epilepsy"]
["SRPX2","rolandic epilepsy  bilateral perisylvian polymicrogyria"]
["SRPX2","rolandic epilepsy  oral dyspraxia  mental retardation"]
["RECQL4","rothmund-thomson syndrome"]
["MPZ","roussy-lvy syndrome"]
["RPE65","rpe65 deficiency"]
["TRIM22","rubella vaccine-induced immune response  association with"]
["VISA","rubella vaccine-induced immune response  association with"]
["EP300","rubinstein-taybi syndrome  non-typical"]
["EP300","rubinstein-taybi syndrome 2"]
["TAS2R31","saccharin taste sensitivity  association"]
["FGFR3","saethre-chotzen syndrome"]
["DSG1","sam syndrome"]
["HEXB","sandhoff disease, adult type"]
["HEXB","sandhoff disease, chronic"]
["HEXB","sandhoff disease, infantile"]
["HEXB","sandhoff disease, juvenile type"]
["POLG","sando with dopamine-agonist responsive parkinsonism"]
["NOD2","sarcoidosis  early onset"]
["IFNA10","sarcoidosis  increased risk  association with"]
["IFNA17","sarcoidosis  increased risk  association with"]
["HLA-DRB1","sarcoidosis  susceptibility  association with"]
["CFTR","sarcoidosis  susceptibility to"]
["TP53","sarcoma  adult-onset"]
["TRIM32","sarcotubular myopathy"]
["HBG1","sardinian hpfh"]
["AHSG","sars-cov infection  protection  association"]
["FGFR2","scaphocephaly and axenfeld-rieger anomaly"]
["MYH7","scapuloperoneal myopathy, myh7-related"]
["HRAS","schimmelpenning-feuerstein-mims syndrome, somatic mosaic"]
["KRAS","schimmelpenning-feuerstein-mims syndrome, somatic mosaic"]
["NAGA","schindler disease, type 3"]
["IL13","schistosomiasis infection  association with"]
["STAT6","schistosomiasis infection  association with"]
["COL4A1","schizencephaly  bilateral"]
["COL4A1","schizencephaly  unilateral"]
["COMT","schizoaffective disorder  association with"]
["ADAMTS17","schizophrenia"]
["ADCY9","schizophrenia"]
["ASAP2","schizophrenia"]
["BLNK","schizophrenia"]
["BSND","schizophrenia"]
["C5orf42","schizophrenia"]
["CACNA1I","schizophrenia"]
["CBX5","schizophrenia"]
["CELSR2","schizophrenia"]
["CHEK2","schizophrenia"]
["CLTCL1","schizophrenia"]
["CNDP2","schizophrenia"]
["CRYBG3","schizophrenia"]
["DCDC5","schizophrenia"]
["DLGAP1","schizophrenia"]
["DNMT1","schizophrenia"]
["DTX1","schizophrenia"]
["FIBIN","schizophrenia"]
["FILIP1","schizophrenia"]
["FLAD1","schizophrenia"]
["FRY","schizophrenia"]
["GLIPR1L2","schizophrenia"]
["GLS","schizophrenia"]
["GRM5","schizophrenia"]
["HIF1A","schizophrenia"]
["HIVEP1","schizophrenia"]
["HTR3A","schizophrenia"]
["INTS1","schizophrenia"]
["ITGA3","schizophrenia"]
["KCNN3","schizophrenia"]
["KCNU1","schizophrenia"]
["KIAA0770","schizophrenia"]
["KIAA1109","schizophrenia"]
["LRP1B","schizophrenia"]
["MECP2","schizophrenia"]
["MIOS","schizophrenia"]
["MKI67","schizophrenia"]
["MYH9","schizophrenia"]
["N4BP2L2","schizophrenia"]
["NCAN","schizophrenia"]
["NCOR2","schizophrenia"]
["NEB","schizophrenia"]
["NUP214","schizophrenia"]
["PPEF2","schizophrenia"]
["RAD54L2","schizophrenia"]
["RBBP5","schizophrenia"]
["RUNX3","schizophrenia"]
["SERPINI1","schizophrenia"]
["SLC18A2","schizophrenia"]
["SLC25A1","schizophrenia"]
["SLIT2","schizophrenia"]
["SLIT3","schizophrenia"]
["SNX31","schizophrenia"]
["ST3GAL6","schizophrenia"]
["TLK2","schizophrenia"]
["TOR1AIP1","schizophrenia"]
["UPF2","schizophrenia"]
["ADAM7","schizophrenia  association with"]
["ARVCF","schizophrenia  association with"]
["BCL9","schizophrenia  association with"]
["CCKAR","schizophrenia  association with"]
["CDC42","schizophrenia  association with"]
["CHGB","schizophrenia  association with"]
["CHI3L1","schizophrenia  association with"]
["CHL1","schizophrenia  association with"]
["COMT","schizophrenia  association with"]
["CSMD1","schizophrenia  association with"]
["DAOA","schizophrenia  association with"]
["DDR1","schizophrenia  association with"]
["DISC1","schizophrenia  association with"]
["DKK2","schizophrenia  association with"]
["DPYSL2","schizophrenia  association with"]
["DRD1","schizophrenia  association with"]
["DRD2","schizophrenia  association with"]
["ELAVL2","schizophrenia  association with"]
["GRIK3","schizophrenia  association with"]
["GRIN2B","schizophrenia  association with"]
["GRM7","schizophrenia  association with"]
["GSK3B","schizophrenia  association with"]
["HRH2","schizophrenia  association with"]
["HTR2A","schizophrenia  association with"]
["HTR5A","schizophrenia  association with"]
["IMPA2","schizophrenia  association with"]
["ITIH4","schizophrenia  association with"]
["KALRN","schizophrenia  association with"]
["KCNJ3","schizophrenia  association with"]
["LAMA5","schizophrenia  association with"]
["MAP2K7","schizophrenia  association with"]
["MLC1","schizophrenia  association with"]
["NOS1","schizophrenia  association with"]
["NOS1AP","schizophrenia  association with"]
["NOTCH4","schizophrenia  association with"]
["NPY","schizophrenia  association with"]
["NRG1","schizophrenia  association with"]
["PAH","schizophrenia  association with"]
["PCM1","schizophrenia  association with"]
["PDLIM5","schizophrenia  association with"]
["PENK","schizophrenia  association with"]
["PIP4K2A","schizophrenia  association with"]
["RELN","schizophrenia  association with"]
["SIGMAR1","schizophrenia  association with"]
["SLC18A1","schizophrenia  association with"]
["SLC6A3","schizophrenia  association with"]
["SMARCA2","schizophrenia  association with"]
["SNAP29","schizophrenia  association with"]
["SRR","schizophrenia  association with"]
["STON2","schizophrenia  association with"]
["SYN3","schizophrenia  association with"]
["TCP1","schizophrenia  association with"]
["TNR","schizophrenia  association with"]
["ZNF804A","schizophrenia  association with"]
["OPHN1","schizophrenia  childhood onset"]
["UPF3B","schizophrenia  childhood onset and autism spectrum disorders"]
["NRXN1","schizophrenia  disorganised type"]
["TFAP2A","schizophrenia  episodic  association"]
["AKT1","schizophrenia  familial  association with"]
["GAD1","schizophrenia  familial  association with"]
["ITGA8","schizophrenia  in females  association with"]
["DISC1","schizophrenia  increased risk  association with"]
["BCL9","schizophrenia  major depressive/bipolar disorder  association with"]
["DRD2","schizophrenia  modifier  association with"]
["HOMER2","schizophrenia  protection  association with"]
["ADAMTSL3","schizophrenia  reduced risk  association with"]
["NPTN","schizophrenia  reduced risk  association with"]
["PTPN21","schizophrenia  reduced risk  association with"]
["VAV3","schizophrenia  reduced risk  association with"]
["ZDHHC8","schizophrenia  risk  association with"]
["NTF3","schizophrenia  severe  increased risk  association"]
["DISC1","schizophrenia  ultra-resistant  association with"]
["BCL9","schizophrenia & major depressive disorder  association with"]
["CACNA1C","schizophrenia / bipolar disorder  assoc with"]
["ITIH3","schizophrenia / bipolar disorder  assoc with"]
["PRODH","schizophrenia 4"]
["PAWR","schizophrenia in females  association with"]
["FABP7","schizophrenia in males  association with"]
["RTN4R","schizophrenia susceptibility"]
["COMT","schizophrenia, susceptibility to"]
["DRD3","schizophrenia, susceptibility to"]
["MTHFR","schizophrenia, susceptibility to"]
["RTN4R","schizophrenia, susceptibility to"]
["KIAA0330","schwannomatosis"]
["SMARCB1","schwannomatosis  familial"]
["SMARCB1","schwannomatosis, somatic"]
["HSPG2","schwartz jampel syndrome type 1"]
["ERMAP","scianna blood group system, sc:-1,2"]
["ADA","scid due to ada deficiency, delayed onset"]
["FOXE3","sclerocornea  non-syndromic  bilateral  total"]
["CHD7","scoliosis  idiopathic  association with"]
["CHD7","scoliosis, idiopathic 3"]
["NPAS2","seasonal affective disorder  association with"]
["OPN4","seasonal affective disorder  association with"]
["LEF1","sebaceous tumors, somatic"]
["CEP152","seckel syndrome 5"]
["NIN","seckel syndrome 7"]
["LTF","secondary amyloidosis in the cornea  association with"]
["FUT2","secretor/nonsecretor polymorphism"]
["FUT2","secretor/nonsecretor polymorphism, japanese type"]
["KCNQ2","seizures  benign infantile"]
["KCNQ3","seizures  benign infantile"]
["SCN2A","seizures  benign infantile"]
["KCNQ2","seizures  benign neonatal"]
["KCNQ2","seizures  benign neonatal-infantile"]
["ALDH7A1","seizures  folinic-acid responsive"]
["KCNJ10","seizures  generalized"]
["GABRG2","seizures  generalized tonic-clonic"]
["CACNB4","seizures  increased risk"]
["PRRT2","seizures, benign familial infantile, 2"]
["KCNQ2","seizures, benign familial neonatal, 1, and/or myokymia"]
["SELP","selectin p polymorphism"]
["AXIN2","selective tooth agenesis  association with"]
["LRRC50","seminoma"]
["TMEM67","senior-loken syndrome"]
["KIAA1336","sensenbrenner syndrome"]
["MYO1A","sensorineural deafness  nonsyndromic"]
["PRPS1","sensorineural deafness  nonsyndromic"]
["MYO6","sensorineural deafness with hypertrophic cardiomyopathy"]
["KCNQ4","sensorineural hearing impairment  idiopathic"]
["MYH9","sensorineural hearing impairment  idiopathic"]
["C12orf64","sensorineural hearing loss"]
["MYO7A","sensorineural hearing loss"]
["TCF21","sensorineural hearing loss"]
["MYO1C","sensorineural hearing loss  bilateral"]
["MYO1F","sensorineural hearing loss  bilateral"]
["CDH23","sensorineural hearing loss  nonsyndromic"]
["COCH","sensorineural hearing loss  nonsyndromic"]
["COL11A2","sensorineural hearing loss  nonsyndromic"]
["EYA4","sensorineural hearing loss  nonsyndromic"]
["MYO6","sensorineural hearing loss  nonsyndromic"]
["OTOA","sensorineural hearing loss  nonsyndromic"]
["OTOF","sensorineural hearing loss  nonsyndromic"]
["OTOR","sensorineural hearing loss  nonsyndromic"]
["WFS1","sensorineural hearing loss  nonsyndromic"]
["RNF170","sensory ataxia  autosomal dominant"]
["C10orf2","sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"]
["POLG","sensory-ataxic neuropathy  ophthalmoplegia  dysarthria and gastroparesis"]
["IGHMBP2","sensory-motor polyneuropathy"]
["LBP","sepsis  in males  association with"]
["CASP12","sepsis  susceptibility  association with"]
["IRAK1","sepsis  susceptibility  association with"]
["LBP","sepsis and multiple organ dysfunction in major trauma  association with"]
["CASP12","sepsis, susceptibility to"]
["S1PR3","sepsis-associated acute respiratory distress syndrome  protection from"]
["KAL1","septo-optic dysplasia"]
["HESX1","septooptic dysplasia, mild"]
["HTR2C","serotonin 5-ht-2c receptor polymorphism"]
["SAA1","serum amyloid a variant"]
["CASR","serum calcium level"]
["HNF1A","serum hdl cholesterol level, modifier of"]
["TNFSF13","serum igm levels  association with"]
["IL6R","serum level of interleukin 6"]
["IL6R","serum level of interleukin-6 soluble receptor"]
["APOA5","serum lipid levels in drinkers  association with"]
["AKR1C4","serum progesterone levels in bipolar disorder  association with"]
["CLYBL","serum vitb12 level  association with"]
["FUT6","serum vitb12 level  association with"]
["MS4A3","serum vitb12 level  association with"]
["WDR34","severe asphyxiating thoracic dysplasia"]
["ITGA9","severe chylothorax  poor response to therapy"]
["IL7R","severe combined immunodeficiency disease"]
["ADA","severe combined immunodeficiency due to ada deficiency"]
["DCLRE1C","severe combined immunodeficiency with sensitivity to ionizing radiation"]
["DCLRE1C","severe combined immunodeficiency, athabascan-type"]
["ZAP70","severe combined immunodeficiency, atypical"]
["ADA","severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency"]
["CD3D","severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive"]
["IL7R","severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive"]
["GFI1","severe congenital neutropenia 2, autosomal dominant"]
["HAX1","severe congenital neutropenia 3, autosomal recessive"]
["G6PC3","severe congenital neutropenia 4, autosomal recessive"]
["ELANE","severe congenital neutropenia autosomal dominant"]
["WAS","severe congenital neutropenia x-linked"]
["LPA","severe coronary artery disease  association with"]
["RTN3","severe malaria  increased risk"]
["NPY2R","severe obesity  in men  association with"]
["PYY","severe obesity  in men  association with"]
["SFTPD","severe rsv infection  association with"]
["DNM2","severe x-linked myotubular myopathy"]
["IFRD1","severity in cystic fibrosis  association with"]
["HBS1L","severity in thalassaemia  association with"]
["GNAS","sex cord stromal tumor, somatic"]
["DYNC2H1","short rib-polydactyly syndrome  majewski type"]
["NEK1","short rib-polydactyly syndrome  majewski type"]
["DYNC2H1","short rib-polydactyly syndrome  type 3"]
["IFT80","short rib-polydactyly syndrome  type 3"]
["DYNC2H1","short rib-polydactyly syndrome, type iib"]
["WDR60","short rib-polydactyly syndrome, type vi"]
["IGF1R","short stature  association with"]
["IGFALS","short stature  delayed puberty  osteopaenia & hyperinsulinaemia"]
["XIST","short stature  dysmorphism  developmental delay"]
["WDR51A","short stature  onychodysplasia  facial dysmorphism & hypotrichosis syndrome"]
["NAG","short stature  optic atrophy & pelger-huet"]
["SEMA3A","short stature & multiple congenital anomalies"]
["GHR","short stature, idiopathic, autosomal"]
["GHSR","short stature, idiopathic, autosomal"]
["SHOX","short stature, idiopathic, x-linked"]
["POC1A","short stature, onychodysplasia, facial dysmorphism, and hypotrichosis"]
["IGF1R","short staure & intrauterine growth retardation"]
["BICD1","shorter telomere length  association with"]
["TERC","shorter telomere length  association with"]
["IRF5","shorter transcript  association with"]
["WDR60","short-rib polydactyly"]
["WDR60","short-rib polydactyly and jeune syndrome"]
["WDR34","short-rib polydactyly syndrome type iii/severe asphyxiating thoracic dysplasia"]
["FBN1","shprintzen-goldberg syndrome"]
["COQ2","shy-drager syndrome"]
["SLC17A5","sialic acid storage disease  infantile"]
["NEU1","sialidosis type i"]
["SCN5A","sick sinus syndrome  autosomal recessive"]
["MYH6","sick sinus syndrome  increased risk  association with"]
["SCN5A","sick sinus syndrome 1, autosomal recessive"]
["SCN5A","sick sinus syndrome/brugada syndrome"]
["ERCC5","single strand breaks  association with"]
["FOXP1","single ventricle defect"]
["HCN4","sinus bradycardia  asymptomatic  association with"]
["SCN5A","sinus node disease"]
["NODAL","situs inversus"]
["ALDH3A2","sjgren-larsson syndrome"]
["TAP2","sjogren's syndrome  association with"]
["NCR3","sjogren's syndrome  protection against  association with"]
["LMNA","skeletal and cardiac muscular dystrophy"]
["FGFR3","skeletal dysplasia with acanthosis nigricans"]
["PTCH1","skin cancer  association with"]
["DSP","skin fragility woolly hair syndrome"]
["XYLT2","skin lesions in pxe  association with"]
["OCA2","skin pigmentation  association with"]
["TYR","skin pigmentation  association with"]
["MC1R","skin/hair/eye pigmentation 2, blond hair/fair skin"]
["MC1R","skin/hair/eye pigmentation 2, red hair/fair skin"]
["TYR","skin/hair/eye pigmentation 3, blue/green eyes"]
["TPCN2","skin/hair/eye pigmentation, variation in, 10"]
["SLC22A4","slc22a4 polymorphism"]
["CSNK1E","sleep disorders  reduced risk  association with"]
["HCRT","sleep onset  parkinson  association with"]
["SRGAP3","slit-robo gap 3 deficiency"]
["NAT2","slow acetylator due to n-acetyltransferase enzyme variant"]
["SCN5A","slow inactivation and negative shft inactivation"]
["SERPINF2","slower apce cleavage time  association with"]
["TLR8","slower progression of hiv  association with"]
["RB1","small cell cancer of the lung"]
["MYCL1","small cell lung cancer  increased risk"]
["SCN10A","small fibre neuropathy"]
["YAP1","small-cell lung cancer survivial  association with"]
["MMP7","smaller reference luminal diameter  association"]
["DYM","smith mccort dysplasia"]
["DHCR7","smith-lemli-opitz syndrome, mild"]
["RAB33B","smith-mccort dysplasia 2"]
["CHRNA3","smoking as a quantitative trait locus 3"]
["CHRNA5","smoking as a quantitative trait locus 3"]
["OXTR","sociobehavioural deficits  association with"]
["TRPV4","sodium serum level quantitative trait locus 1"]
["POLG","sodium valproate-induced liver toxicity  association with"]
["AIP","somatotropinoma  pediatric"]
["TIMP3","sorsby fundus dystrophy"]
["SCN2A","spasms  infantile  and bitemporal glucose hypometabolism"]
["SACS","spastic ataxia  charlevoix-saguenay"]
["ALS2","spastic paralysis  infantile-onset"]
["VPS37A","spastic paraparesis  complex"]
["ZFYVE26","spastic paraparesis type 15"]
["NIPA1","spastic paraplegia  autosomal dominant"]
["SLC33A1","spastic paraplegia  autosomal dominant"]
["SPAST","spastic paraplegia  autosomal dominant"]
["KIAA1840","spastic paraplegia  autosomal recessive"]
["PNPLA6","spastic paraplegia  autosomal recessive"]
["SPG11","spastic paraplegia  autosomal recessive"]
["SPG7","spastic paraplegia  autosomal recessive"]
["ZFYVE26","spastic paraplegia  autosomal recessive"]
["SACS","spastic paraplegia  non-ataxic  and peripheral neuropathy"]
["SPAST","spastic paraplegia  silver syndrome type"]
["L1CAM","spastic paraplegia 1"]
["KIF5A","spastic paraplegia 10"]
["HSPD1","spastic paraplegia 13"]
["ZFYVE26","spastic paraplegia 15"]
["FAAH","spastic paraplegia 35"]
["PNPLA6","spastic paraplegia 39"]
["SPAST","spastic paraplegia 4, modifier of"]
["C19orf12","spastic paraplegia 43"]
["GJC2","spastic paraplegia 44"]
["GBA2","spastic paraplegia 46, autosomal recessive"]
["DDHD2","spastic paraplegia 54, autosomal recessive"]
["CYP2U1","spastic paraplegia 56, autosomal recessive"]
["CYP7B1","spastic paraplegia 5a"]
["NIPA1","spastic paraplegia 6"]
["SPG7","spastic paraplegia 7"]
["KIAA0196","spastic paraplegia 8"]
["SPTB","spectrin kissimmee"]
["SPTB","spectrin providence"]
["FOXP2","speech-language disorder 1"]
["FGFR3","spermatocytic seminoma, somatic"]
["HRAS","spermatocytic seminoma, somatic"]
["INHBB","spermatogenic failure"]
["DAZL","spermatogenic failure  association with"]
["TAF7L","spermatogenic failure  association with"]
["SEPT12","spermatogenic failure 10"]
["KLHL10","spermatogenic failure 11"]
["NANOS1","spermatogenic failure 12"]
["SLC26A8","spermatogenic failure 3"]
["NR5A1","spermatogenic failure 8"]
["DAZL","spermatogenic failure, susceptibility to"]
["SPTA1","spherocytosis  association with"]
["ANK1","spherocytosis type 1"]
["SPTB","spherocytosis type 2"]
["SLC4A1","spherocytosis type 4"]
["EPB42","spherocytosis type 5"]
["SPTA1","spherocytosis, type 3, autosomal recessive"]
["ADAMTS17","spherophakia with short stature"]
["CYLD","spiegler-brooke syndrome"]
["PAX1","spina bifida"]
["ISYNA1","spina bifida  reduced risk  association with"]
["MTHFD1","spina bifida, folate-sensitive, susceptibility to"]
["SMA","spinal muscular atrophy"]
["BICD2","spinal muscular atrophy  autosomal dominant"]
["BSCL2","spinal muscular atrophy  distal"]
["FBXO38","spinal muscular atrophy  distal"]
["IGHMBP2","spinal muscular atrophy  distal type 1"]
["BICD2","spinal muscular atrophy  modifier of"]
["SMN2","spinal muscular atrophy  modifier of"]
["UBA1","spinal muscular atrophy  x-linked"]
["UBA1","spinal muscular atrophy  x-linked infantile"]
["BICD2","spinal muscular atrophy with upper motor neuron features"]
["BICD2","spinal muscular atrophy, lower extremity predominant 2, autosomal dominant"]
["SMN1","spinal muscular atrophy, type ii"]
["TNFRSF11B","spine bone mineral density  reduced  in postmenopausal women  association with"]
["ITPR1","spinocerebellar ataxia  congenital nonprogressive"]
["TTBK2","spinocerebellar ataxia  type 11"]
["ITPR1","spinocerebellar ataxia 15/29"]
["CNTN4","spinocerebellar ataxia 16"]
["TGM6","spinocerebellar ataxia 35"]
["SETX","spinocerebellar ataxia autosomal recessive 1"]
["ZNF592","spinocerebellar ataxia autosomal recessive 5"]
["TDP1","spinocerebellar ataxia autosomal recessive with axonal neuropathy"]
["SPTBN2","spinocerebellar ataxia type 1  spectrin-associated"]
["GJB1","spinocerebellar ataxia x1"]
["SYNE1","spinocerebellar ataxia, autosomal recessive 8"]
["ADCK3","spinocerebellar ataxia, autosomal recessive 9"]
["C10orf2","spirocerebellar ataxia  infantile onset"]
["RPSA","splenic hypoplasia"]
["FLNB","spondylocarpotarsal synostosis syndrome"]
["MESP2","spondylocostal dysostosis 2"]
["LFNG","spondylocostal dysostosis 3"]
["HES7","spondylocostal dysostosis 4"]
["HES7","spondylocostal dysostosis 4 & dextrocardia with situs inversus"]
["HES7","spondylocostal dysostosis 4, autosomal recessive"]
["MMP13","spondyloepimetaphyseal dysplasia  missouri type"]
["COL2A1","spondyloepimetaphyseal dysplasia  strudwick"]
["MATN3","spondyloepimetaphyseal dysplasia matrilin-3 related"]
["COL2A1","spondyloepimetaphyseal dysplasia strudwick type"]
["B3GALT6","spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures"]
["MATN3","spondyloepimetaphyseal dysplasia, matn3-related"]
["PAPSS2","spondyloepimetaphyseal dysplasia, pakistani type"]
["ACAN","spondyloepiphyseal dysplasia  kimberley type"]
["TRPV4","spondyloepiphyseal dysplasia  maroteaux type"]
["CHST3","spondyloepiphyseal dysplasia  omani type"]
["CHST3","spondyloepiphyseal dysplasia  omani type with cardiac involvement"]
["COL2A1","spondyloepiphyseal dysplasia / col2a1-related dysplasia"]
["TRPV4","spondyloepiphyseal dysplasia maroteaux type"]
["CHST3","spondyloepiphyseal dysplasia with congenital joint dislocations"]
["DDR2","spondylo-meta-epiphyseal dysplasia  short limb-hand type"]
["DDR2","spondylometaepiphyseal dysplasia short limb-hand type"]
["COL2A1","spondylometaphyseal dysplasia  algerian type"]
["TRPV4","spondylometaphyseal dysplasia  kozlowski type"]
["TRPV4","spondylometaphyseal dysplasia  kozlowski type / brachyolmia"]
["PRNP","spongiform encephalopathy  familial"]
["PRNP","spongiform encephalopathy with neuropsychiatric features"]
["COL5A2","spontaneous cervical artery dissections"]
["CDKN2A","squamous cell carcinoma  head and neck"]
["TNFRSF10B","squamous cell carcinoma  head and neck"]
["SHFM1","squamous cell carcinoma  increased risk  association"]
["EGFR","squamous cell carcinoma of head & neck"]
["PTPN13","squamous cell carcinoma of head & neck  association with"]
["IGFBP5","squamous cell carcinoma of the head and neck  increased risk"]
["DEC1","squamous cell carcinoma of the head and neck  reduced risk  assoc"]
["ADH7","squamous cell carcinoma of the head and neck  reduced risk  assoc"]
["FAS","squamous cell carcinoma, burn scar-related, somatic"]
["ING1","squamous cell carcinoma, head and neck, somatic"]
["IL1RL2","sst2 levels  association with"]
["ABCA4","stargardt disease  association with"]
["ABCA4","stargardt disease  late-onset"]
["CNGB3","stargardt disease 1"]
["ABCA4","stargardt disease 2/3"]
["TRPM1","stationary night blindness  autosomal dominant congenital"]
["LRIT3","stationary night blindness  complete congenital"]
["CACNA1F","stationary night blindness  congenital"]
["TRPM1","stationary night blindness  congenital"]
["SRD5A2","steroid 5-alpha-reductase polymorphism"]
["CYP11B1","steroid-11 beta-hydroxylase deficiency  non-classic"]
["COL9A1","stickler syndrome  autosomal recessive"]
["COL2A1","stickler syndrome  type 1"]
["COL11A1","stickler syndrome  type 2"]
["COL11A2","stickler syndrome  without eye involvement"]
["COL2A1","stickler syndrome type 1"]
["COL9A1","stickler syndrome, type 4"]
["RHAG","stomatocytosis  overhydrated"]
["NUP62","striatonigral degeneration  infantile"]
["CDKN2BAS","stroke  association with"]
["SOX17","stroke  association with"]
["COL4A1","stroke  childhood-onset"]
["MFN2","stroke  early-onset"]
["LDLR","stroke  increased risk  association with"]
["NPPA","stroke  increased risk  association with"]
["SERPINA5","stroke  paediatic"]
["VCAM1","stroke  protection against  association with"]
["ANGPT1","stroke  reduced risk  association with"]
["GOLGB1","stroke  reduced risk in sickle cell anaemia"]
["TBXAS1","stroke recurrence  association with"]
["GNAQ","sturge-weber syndrome, somatic, mosaic"]
["C1QA","subacute cutaneous lupus erythematosus  association with"]
["GBA","subacute neuronopathic gaucher's disease"]
["PDCD1","subacute sclerosing panencephalitis  incr suscept  association"]
["CYP3A4","subarachnoid haemorrhage  association with"]
["PKD1L1","subarachnoid haemorrhage  association with"]
["DCX","subcortical laminar heterotopia, x-linked"]
["CHRNB2","subjective responses to alcohol and nicotine  association with"]
["ALDH2","sublingual nitroglycerin, susceptibility to poor response to"]
["CP","substantia nigra hyperechogenicity in parkinsonism  association with"]
["SCN5A","sudden adult death syndrome"]
["TPM1","sudden cardiac death"]
["KCNJ11","sudden cardiac death in acute myocardial infarction"]
["KCND3","sudden infant death syndrome"]
["ADCYAP1","sudden infant death syndrome  association with"]
["PKP2","sudden unexpected death with negative autopsy"]
["HTR1B","suicidal ideation  in major depression  association with"]
["SAT1","suicide  association with"]
["TPH2","suicide  association with"]
["SUOX","sulfite oxidase deficiency, isolated"]
["SOD2","superoxide dismutase 2 polymorphism"]
["SOD3","superoxide dismutase, elevated extracellular"]
["MAPT","supranuclear palsy  progressive"]
["MAPT","supranuclear palsy  progressive  association with"]
["MAPT","supranuclear palsy, progressive, 1, atypical"]
["ELN","supravalvar aortic stenosis"]
["CSF2RA","surfactant metabolism dysfunction, pulmonary, 4"]
["SFTPB","surfactant protein b deficiency  partial"]
["CXCL10","susceptibility to disease progression in male hbv"]
["ALDH2","susceptibility to hangover"]
["CISH","susceptibility to malaria"]
["HTRA1","susceptibility to neovascular type of age-related macular degeneration"]
["AGT","susceptibility to progression to renal failure in iga nephropathy"]
["TEAD1","sveinsson choreoretinal atrophy"]
["SLC4A1","swann blood group antigen"]
["CFTR","sweat chloride elevation without cystic fibrosis"]
["NOG","symphalangism  proximal"]
["NOG","symphalangism-brachydactyly syndrome"]
["GJA1","syndactyly type 3"]
["HOXD13","syndactyly type 5"]
["FGF3","syndromic deafness  microtia & microdontia"]
["FGD1","syndromic x-linked mental retardation 16"]
["ROBO3","synergistic convergance  with scoliosis"]
["NOD2","synovitis  granulomatous  with uveitis"]
["IL1RN","systemic inflamation  association with"]
["FCGR3A","systemic lupus erytematosus  association with"]
["FAS","systemic lupus erythematosus"]
["BLK","systemic lupus erythematosus  association with"]
["CD226","systemic lupus erythematosus  association with"]
["CIITA","systemic lupus erythematosus  association with"]
["CRP","systemic lupus erythematosus  association with"]
["CSK","systemic lupus erythematosus  association with"]
["CTLA4","systemic lupus erythematosus  association with"]
["DNASE1","systemic lupus erythematosus  association with"]
["EGR2","systemic lupus erythematosus  association with"]
["ETS1","systemic lupus erythematosus  association with"]
["FAS","systemic lupus erythematosus  association with"]
["FASLG","systemic lupus erythematosus  association with"]
["FCAR","systemic lupus erythematosus  association with"]
["FCGR2A","systemic lupus erythematosus  association with"]
["HCLS1","systemic lupus erythematosus  association with"]
["IL18","systemic lupus erythematosus  association with"]
["IL6","systemic lupus erythematosus  association with"]
["IRF5","systemic lupus erythematosus  association with"]
["IRF7","systemic lupus erythematosus  association with"]
["ITGAM","systemic lupus erythematosus  association with"]
["ITPR3","systemic lupus erythematosus  association with"]
["KLRK1","systemic lupus erythematosus  association with"]
["NR3C1","systemic lupus erythematosus  association with"]
["PDCD1","systemic lupus erythematosus  association with"]
["PRL","systemic lupus erythematosus  association with"]
["RASGRP3","systemic lupus erythematosus  association with"]
["SLC15A4","systemic lupus erythematosus  association with"]
["STAT4","systemic lupus erythematosus  association with"]
["TNFAIP3","systemic lupus erythematosus  association with"]
["TNFRSF1B","systemic lupus erythematosus  association with"]
["TNFSF4","systemic lupus erythematosus  association with"]
["TNIP1","systemic lupus erythematosus  association with"]
["TRIM21","systemic lupus erythematosus  association with"]
["UHRF1BP1","systemic lupus erythematosus  association with"]
["WDFY4","systemic lupus erythematosus  association with"]
["CDKN1A","systemic lupus erythematosus  increased risk  association with"]
["IKBKE","systemic lupus erythematosus  increased risk  association with"]
["MAVS","systemic lupus erythematosus  increased risk  association with"]
["NCF2","systemic lupus erythematosus  increased risk  association with"]
["NFKBIL1","systemic lupus erythematosus  increased risk  association with"]
["TBX21","systemic lupus erythematosus  increased risk  association with"]
["TLR7","systemic lupus erythematosus  male  association with"]
["MFGE8","systemic lupus erythematosus  protection against  assoc"]
["TNFAIP3","systemic lupus erythematosus  protection against  assoc"]
["BANK1","systemic lupus erythematosus  protection against  association"]
["CD40","systemic lupus erythematosus  reduced risk  association"]
["PTPN22","systemic lupus erythematosus  reduced risk  association"]
["ESR1","systemic lupus erythematosus  risk  association with"]
["LTK","systemic lupus erythematosus  susceptibility  association"]
["TYK2","systemic lupus erythematosus  susceptibility association with"]
["IRF5","systemic lupus erythematosus 10"]
["IRF5","systemic lupus erythematosus, association wit 10"]
["TLR5","systemic lupus erythematosus, resistance to, 1"]
["CTLA4","systemic lupus erythematosus, susceptibility to"]
["DNASE1","systemic lupus erythematosus, susceptibility to"]
["FCGR2B","systemic lupus erythematosus, susceptibility to"]
["TREX1","systemic lupus erythematosus, susceptibility to"]
["BANK1","systemic lupus erythmatosus, association with"]
["BLK","systemic sclerosis  association with"]
["CD247","systemic sclerosis  association with"]
["CD86","systemic sclerosis  association with"]
["CTGF","systemic sclerosis  association with"]
["HLA-DQB1","systemic sclerosis  association with"]
["IRF4","systemic sclerosis  association with"]
["PSORS1C1","systemic sclerosis  association with"]
["STAT4","systemic sclerosis  association with"]
["TNFSF4","systemic sclerosis  protection against  association with"]
["CD19","systemic sclerosis  susceptibility association with"]
["TNFAIP3","systemic sclerosis  susceptibility to  association with"]
["HGF","systemic sclerosis with end-stage lung disease  assoc with"]
["C3","systemic vasculitis  association with"]
["PIK3CD","t cell senescence & immunodeficiency"]
["COL1A1","talipes equinovarus  congential idiopathic"]
["GLI3","talipes equinovarus  congential idiopathic  association with"]
["FBN1","tall stature  association with"]
["NPR2","tall stature  scoliosis & macrodactyly of great toes"]
["UMOD","tamm horsfall protein levels  association with"]
["ABCA1","tangier disease, variant"]
["DRD3","tardive dyskinesia in schizophrenia  association"]
["TAS1R3","taste sensitivity to sucrose  association with"]
["HEXA","tay-sachs disease, b1 variant"]
["HEXA","tay-sachs disease, juvenile"]
["SERPINA7","tbg-a"]
["SERPINA7","tbg-aborigine"]
["SERPINA7","tbg-buffalo"]
["SERPINA7","tbg-chicago"]
["SERPINA7","tbg-gary"]
["SERPINA7","tbg-montreal"]
["SERPINA7","tbg-p"]
["SERPINA7","tbg-pdj"]
["SERPINA7","tbg-quebec"]
["SERPINA7","tbg-s"]
["ATM","t-cell prolymphocytic leukemia, somatic"]
["TCN2","tcn2 polymorphism"]
["CYP2A6","tegafur, poor metabolism of"]
["ACVRL1","telangiectasia, hereditary hemorrhagic, type ii"]
["DKC1","telomere phenotypes"]
["CPA6","temporal lobe epilepsy  association with"]
["GABBR1","temporal lobe epilepsy  association with"]
["COMT","temporomandibular disorder"]
["PDE11A","testicular germ cell tumour  association with"]
["STK11","testicular tumor, somatic"]
["WNT3","tetraamelia, autosomal recessive"]
["GATA4","tetralogy of fallot"]
["GDF1","tetralogy of fallot"]
["ROCK1","tetralogy of fallot  predisposition to"]
["ERAF","thalassaemia"]
["HBM","thalassaemia alpha"]
["HBB","thalassaemia beta  silent"]
["HBB","thalassaemia intermedia"]
["FGFR3","thanatophoric dysplasia type 1"]
["GNAI2","thecoma, somatic"]
["ACTA2","thoracic aortic aneurysm"]
["MMP1","thoracic aortic aneurysm  smaller diameter"]
["FBN1","thoracic aortic aneurysm and dissections"]
["FBN1","thoracic aortic aneurysms & dissections  association with"]
["ACTA2","thoracic aortic aneurysms and dissections"]
["SLC2A10","thoracic aortic aneurysms and dissections"]
["SMAD3","thoracic aortic aneurysms and dissections"]
["ACTA2","thoracic aortic disease  coronary artery disease & strokes"]
["CUL7","three m syndrome 1"]
["THPO","thrombocythaemia  essential"]
["MPL","thrombocythemia 2, somatic"]
["JAK2","thrombocythemia 3"]
["JAK2","thrombocythemia 3, somatic"]
["SH2B3","thrombocythemia, somatic"]
["MASTL","thrombocytopenia 2"]
["ITGB3","thrombocytopenia, neonatal alloimmune"]
["WAS","thrombocytopenia, x-linked"]
["GATA1","thrombocytopenia, x-linked, without dyserythropoietic anemia"]
["MPL","thrombocytosis  association with"]
["MPL","thrombocytosis, benign familial microcytic"]
["THBD","thromboembolic disease  association with"]
["WRN","thromboembolic disease  association with"]
["F11","thrombophilia"]
["TFPI","thrombophilia  association with"]
["FGG","thrombophilia, dysfibrinogenemic"]
["PROC","thrombophilia, hereditary, due to protein c deficiency, autosomal dominant"]
["PROC","thrombophilia, hereditary, due to protein c deficiency, autosomal recessive"]
["HRG","thrombophilia, histidine-rich glycoprotein-related"]
["F5","thrombosis  increased risk"]
["F5","thrombosis  increased risk  association with"]
["F2","thrombosis  venous"]
["CFH","thrombotic thrombocytopaenic purpura  renal involvement"]
["MINPP1","thyroid adenoma  follicular"]
["TSHR","thyroid adenoma, hyperfunctioning, somatic"]
["PAX8","thyroid agenesis"]
["RET","thyroid cancer  association with"]
["TG","thyroid cancer  increased risk  association with"]
["PTPRJ","thyroid cancer  risk  association with"]
["FOXE1","thyroid cancer susceptibility  association with"]
["MINPP1","thyroid cancer, follicular"]
["FAS","thyroid carcinoma  association with"]
["MINPP1","thyroid carcinoma  follicular  lower risk  association"]
["IL32","thyroid carcinoma  increased risk"]
["RET","thyroid carcinoma  medullary"]
["TP53","thyroid carcinoma, anaplastic, somatic"]
["BRAF","thyroid carcinoma, follicular, somatic"]
["HRAS","thyroid carcinoma, follicular, somatic"]
["NRAS","thyroid carcinoma, follicular, somatic"]
["BRAF","thyroid carcinoma, papillary, somatic"]
["RET","thyroid carcinoma, sporadic medullary"]
["THRA","thyroid hormone resistance"]
["THRB","thyroid hormone resistance, generalized"]
["THRB","thyroid hormone resistance, generalized, autosomal dominant"]
["THRB","thyroid hormone resistance, generalized, autosomal recessive"]
["CTLA4","thyroid-associated orbitopathy, susceptibility to"]
["TSHR","thyroid-stimulating hormone resistance  nonclassic"]
["TSHR","thyrotropin receptor polymorphism"]
["SERPINA7","thyroxine-binding globulin deficiency  association"]
["SERPINA7","thyroxine-binding globulin deficiency, complete"]
["SERPINA7","thyroxine-binding globulin deficiency, complete, buffalo type"]
["SERPINA7","thyroxine-binding globulin deficiency, partial, gary type"]
["SERPINA7","thyroxine-binding globulin deficiency, partial, japanese type"]
["SERPINA7","thyroxine-binding globulin deficiency, partial, montreal type"]
["SERPINA7","thyroxine-binding globulin deficiency, partial, quebec type"]
["SERPINA7","thyroxine-binding globulin, buffalo"]
["SERPINA7","thyroxine-binding globulin, chicago"]
["SERPINA7","thyroxine-binding globulin, gary"]
["SERPINA7","thyroxine-binding globulin, montreal"]
["SERPINA7","thyroxine-binding globulin, slow"]
["SERPINA7","thyroxine-binding globulin, variant a"]
["SERPINA7","thyroxine-binding globulin, variant p"]
["SERPINA7","thyroxine-binding globulin-slow variant"]
["KCNE1","tinnitus"]
["ATM","tissue response in radiotherapy  association with"]
["TMCO1","tmco1 defect syndrome"]
["TNF","tnf receptor binding, altered"]
["TNFRSF1A","tnf receptor-associated periodic fever syndrome"]
["GABBR2","tobacco addiction, susceptibility to"]
["CYP2C9","tolbutamide poor metabolizer"]
["TACI","tonsillar hypertrophy and sarcoidosis"]
["EDAR","tooth agenesis"]
["EDARADD","tooth agenesis"]
["WNT10A","tooth agenesis"]
["MSX1","tooth agenesis, selective, with or without orofacial cleft"]
["MMP2","torg winchester syndrome"]
["KCNH2","torsades de pointes  drug-induced  association with"]
["TOR1A","torsion dystonia  early onset"]
["TOR1A","torsion dystonia  phenotype modifier  association with"]
["WDSOF1","total body bone mineral density  association"]
["APOB","total cholesterol levels  association with"]
["BLM","total loss of function"]
["HCRTR2","tourette syndrome"]
["HTR1A","tourette syndrome"]
["TSHR","toxic multinodular goitre  association with"]
["TPI1","tpi-hungary"]
["TPI1","tpi-manchester"]
["TPMT","tpmt deficiency  association with"]
["IL9","trachomatous trichiasis infection  association with"]
["TCN1","transcobalamin i deficiency  mild"]
["TYMS","transcriptional activity  association with"]
["HFE","transferrin serum level quantitative trait locus 2"]
["TF","transferrin variant"]
["TF","transferrin variant b2"]
["TF","transferrin variant bv"]
["TF","transferrin variant c1/c2"]
["TF","transferrin variant chi"]
["TF","transferrin variant d1"]
["RUNX1","transient myeloproliferative disorder of down syndrome"]
["ZFP57","transient neonatal diabetes mellitus 1"]
["ABCC8","transient neonatal diabetes mellitus 2"]
["KCNJ11","transient neonatal diabetes mellitus 3"]
["MED13L","transposition of great arteries"]
["GDF1","transposition of great arteries, dextro-looped 3"]
["TTR","transthyretin polymorphism"]
["TAAR9","trar3 null allele"]
["FUS","tremor, hereditary essential, 4"]
["LPL","triacylglycerol and hdl levels  association with"]
["CYLD","trichoepithelioma  multiple familial"]
["SKIV2L","trichohepatoenteric syndrome 2"]
["TRPS1","trichorhinophalangeal syndrome type 3"]
["GTF2H5","trichothiodystrophy, complementation group a"]
["MPLKIP","trichothiodystrophy, nonphotosensitive 1"]
["OPN1MW","trichromacy  deutan"]
["HADHA","trifunctional protein deficiency with myopathy and neuropathy"]
["FMO3","trimethylaminuria  association with"]
["FMO3","trimethylaminuria, mild"]
["TPI1","triosephosphate isomerase manchester"]
["CTSB","tropical calcific pancreatitis  association with"]
["NKX2-5","truncus arteriosus"]
["LAMA2","tuberculoid leprosy  association with"]
["CD209","tuberculosis  association with"]
["IRF8","tuberculosis  association with"]
["SFTPA2","tuberculosis  association with"]
["TNFRSF1B","tuberculosis  association with"]
["MC3R","tuberculosis  reduced susceptibility  association with"]
["SP110","tuberculosis  reduced susceptibility  association with"]
["CTSZ","tuberculosis  susceptibility to  association with"]
["IFITM3","tuberculosis  susceptibility to  association with"]
["IL12RB1","tuberculosis  susceptibility to  association with"]
["IL12RB2","tuberculosis  susceptibility to  association with"]
["TLR6","tuberculosis  susceptibility to  association with"]
["IRGM","tuberculosis caused by mycobacterium tuberculosis  protection against  association"]
["CISH","tuberculosis, susceptibility to"]
["TSC1","tuberous sclerosis 1"]
["TSC2","tuberous sclerosis 2"]
["TSC1","tuberous sclerosis syndrome"]
["TSC2","tuberous sclerosis syndrome"]
["FGF23","tumoral calcinosis, familial, hyperphosphatemic"]
["GALNT3","tumoral calcinosis, familial, hyperphosphatemic"]
["SAMD9","tumoral calcinosis, familial, normophosphatemic"]
["KL","tumoral calcinosis, hyperphosphatemic"]
["TLR10","tumour size  reduced  in papillary thyorid carcinoma  association with"]
["SAMD9","tumoural calcinosis  normophosphataemic"]
["STX1A","type 2 diabetes  age of onset  association with"]
["KCNJ9","type 2 diabetes  association with"]
["TAT","tyrosinemia type 2"]
["UCP3","ucp3 polymorphism g/a"]
["IL10","ulcerative colitis  association with"]
["MUC4","ulcerative colitis  association with"]
["PGLYRP2","ulcerative colitis  association with"]
["PGLYRP3","ulcerative colitis  association with"]
["IL17A","ulcerative colitis  increased risk  association with"]
["IL17REL","ulcerative colitis  increased risk  association with"]
["NOD1","ulcerative colitis  increased risk  association with"]
["RAC1","ulcerative colitis  increased risk  association with"]
["NOD1","ulcerative colitis  reduced risk  association with"]
["PRDM1","ulcerative colitis  reduced risk  association with"]
["EED","ulcerative colitis  susceptibility to"]
["COL6A1","ullrich congenital muscular dystrophy  intermediate"]
["COL6A2","ullrich congenital muscular dystrophy  intermediate"]
["COL6A3","ullrich congenital muscular dystrophy  intermediate"]
["COL6A1","ullrich congenital muscular dystrophy, autosomal dominant"]
["COL6A2","ullrich congenital muscular dystrophy, autosomal dominant"]
["COL6A1","ullrich congenital muscular dystrophy, autosomal recessive"]
["COL6A2","ullrich congenital muscular dystrophy, autosomal recessive"]
["COL6A3","ullrich congenital muscular dystrophy, autosomal recessive"]
["COL6A1","ullrich congenital muscular dystrophy, digenic, col6a1/col6a2"]
["COL6A2","ullrich congenital muscular dystrophy, digenic, col6a1/col6a2"]
["WNT7A","ulna and fibula absence of with severe limb deficiency"]
["WNT7A","ulnar and fibula absence  with severe limb deficiency"]
["RET","unclassifed"]
["SEMA3A","unexplained cardiac arrest  association with"]
["FOXP3","unexplained recurrent spontaneous abortion  association with"]
["TPH2","unipolar depression, susceptibility to"]
["TPH2","unipolar major depression  association with"]
["KDM4C","upper aerodigestive tract cancer  association with"]
["HELQ","upper aerodigestive tract cancer  increased risk"]
["SPAST","upper motor neuron syndrome  adult onset"]
["ADAMTS13","upshaw-schulman syndrome"]
["DSTYK","ureteropelvic junction obstruction"]
["DSTYK","ureteropelvic junction obstruction / renal hypodysplasia"]
["SLC17A1","uric acid concentration  association with"]
["ABCG2","uric acid concentration, serum, quantitative trait locus 1"]
["ZNF365","uric acid nephrolithiasis  association with"]
["ZNF365","uric acid nephrolithiasis, susceptibility to"]
["N/A","uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to"]
["UMOD","uromodulin-associated kidney disease"]
["HNMT","urticaria  chronic  aspirin intolerant  reduced risk  association with"]
["FCER1A","urticaria  chronic  aspirin-intolerant  association with"]
["TRIM32","usher syndrome"]
["MYO7A","usher syndrome  atypical"]
["USH1G","usher syndrome  atypical"]
["CLRN1","usher syndrome 1"]
["CLRN1","usher syndrome 1d"]
["CLRN1","usher syndrome 3"]
["CLRN1","usher syndrome 3a"]
["PCDH15","usher syndrome, type 1g"]
["CIB2","usher syndrome, type 1j"]
["DFNB31","usher syndrome, type 2d"]
["CLRN1","usher syndrome, type 3"]
["CDH23","usher syndrome, type id/f, digenic"]
["AHR","uterine endometrial cancer  association with"]
["BAP1","uveal melanoma"]
["BAP1","uveal melanoma  cutaneous melanoma & malignant mesothelioma"]
["BAP1","uveal melanoma  lung carcinoma  and meningioma"]
["MC1R","uv-induced skin damage  vulnerability to"]
["MC1R","uv-induced skin damage, susceptibility to"]
["VAPB","vapb variant"]
["AQP5","variable raas response to salt-loading  association with"]
["AK7","variant of unknown significance"]
["BAG3","variant of unknown significance"]
["C5orf42","variant of unknown significance"]
["CACNA2D2","variant of unknown significance"]
["CAMK2G","variant of unknown significance"]
["CCS","variant of unknown significance"]
["CFHR5","variant of unknown significance"]
["CIZ1","variant of unknown significance"]
["COL14A1","variant of unknown significance"]
["CORIN","variant of unknown significance"]
["CPS1","variant of unknown significance"]
["GPHN","variant of unknown significance"]
["GRIA1","variant of unknown significance"]
["HARS","variant of unknown significance"]
["KCND3","variant of unknown significance"]
["LAMC1","variant of unknown significance"]
["LMNA","variant of unknown significance"]
["LOXHD1","variant of unknown significance"]
["MFF","variant of unknown significance"]
["MYO7A","variant of unknown significance"]
["NAGPA","variant of unknown significance"]
["NID1","variant of unknown significance"]
["OTUD4","variant of unknown significance"]
["PCDHA3","variant of unknown significance"]
["PDGFRA","variant of unknown significance"]
["SCN2B","variant of unknown significance"]
["SDHB","variant of unknown significance"]
["SIRT1","variant of unknown significance"]
["SMAD1","variant of unknown significance"]
["WNK1","variant of unknown significance"]
["XRCC2","variant of unknown significance"]
["COL1A1","variation in bone mineral density  association with"]
["PPOX","variegate porphyria, homozygous"]
["BUB1","variegated aneuploidy"]
["BUB3","variegated aneuploidy"]
["CFTR","vas deferens, congenital bilateral absence of"]
["EFEMP2","vascular elastogenesis"]
["CPS1","venoocclusive disease after bone marrow transplantation, susceptibility to"]
["PROCR","venous thromboembolism  association with"]
["TNFSF4","venous thromboembolism  association with"]
["FGB","venous thromboembolism  protection against  in caucasians  association with"]
["FGA","venous thromboembolism  susceptibility  association with"]
["LTC4S","venous thromboembolism and ischaemic stroke  association with"]
["FGA","venous thromboembolism, susceptibility to"]
["HABP2","venous thromboembolism, susceptibility to"]
["KNG1","venous thrombosis  increased risk  association"]
["SERPINE1","venous thrombosis  increased risk  association"]
["THBD","venous thrombosis  increased risk  association"]
["STXBP5","venous thrombosis  reduced risk  association"]
["F13A1","venous thrombosis, protection against"]
["F13B","venous thrombosis, susceptibility to"]
["SERPINA10","venous thrombosis, susceptibility to"]
["HRC","ventricular arrhythmias  association with"]
["CACNB2","ventricular fibrillation  idiopathic"]
["CALM1","ventricular fibrillation  idiopathic"]
["SCN3B","ventricular fibrillation  idiopathic"]
["SCN5A","ventricular fibrillation  idiopathic"]
["SCN5A","ventricular fibrillation, paroxysmal familial"]
["CTF1","ventricular hypertrophy in hypertension  protection against"]
["NKX2-5","ventricular septal defect  association with"]
["TBX1","ventricular septal defect  association with"]
["PLAGL1","ventricular septal defect  isolated"]
["GATA4","ventricular septal defect 1"]
["CASQ2","ventricular tachycardia  polymorphic"]
["RYR2","ventricular tachycardia  polymorphic"]
["CASQ2","ventricular tachycardia, catecholaminergic polymorphic, 2"]
["GNAI2","ventricular tachycardia, somatic"]
["AIFM1","ventriculomegaly  prenatal"]
["FOXP2","verbal apraxia & dysarthria"]
["HOXD10","vertical talus, congenital"]
["SALL2","vesicoureteral reflux"]
["SOX17","vesicoureteral reflux 3"]
["KIAA1632","vici syndrome"]
["OAS1","viral infection  susceptibility  association with"]
["FCGR3A","viral infections, recurrent, susceptibility to"]
["ACTG2","visceral myopathy  familial"]
["FUT2","vitamin b12 plasma level quantitative trait locus 1"]
["GC","vitamin d affinity  association with"]
["VDR","vitamin d status / height  association with"]
["VKORC1","vitamin k-dependent clotting factors  deficiency  type 2"]
["VKORC1","vitamin k-dependent clotting factors, combined deficiency of, 2"]
["IL19","vitiligo  association with"]
["FOXD3","vitiligo  autosomal dominant  association with"]
["C12orf10","vitiligo  susceptibility to  association with"]
["CAT","vitiligo susceptibility  association with"]
["NLRP1","vitiligo-associated multiple autoimmune disease susceptibility 1"]
["NLRP1","vitiligo-association multiple autoimmune disease susceptibility"]
["BEST1","vitreoretinochoroidopathy  autosomal dominant"]
["BEST1","vitreoretinochoroidopathy dominant"]
["CAPN5","vitreoretinopathy  neovascular inflammatory"]
["VHL","von hippel-lindau"]
["VHL","von hippel-lindau syndrome  type 2a"]
["VHL","von hippel-lindau syndrome  type i"]
["VWF","von willebrand  normandy variant"]
["VWF","von willebrand disease  association with"]
["GP1BA","von willebrand disease  platelet-type"]
["VWF","von willebrand disease  quantitative type  association with"]
["VWF","von willebrand disease 2a/2c"]
["VWF","von willebrand disease 2a/b"]
["VWF","von willebrand disease 2a/e"]
["VWF","von willebrand disease, type 1, susceptibility to"]
["VWF","von willebrand disease, type 2a"]
["VWF","von willebrand disease, type 2b"]
["VWF","von willebrand factor polymorphism"]
["VWF","von willebrand factor vicenza"]
["GP1BA","vwf binding  association with"]
["TYR","waardenburg syndrome 2 and ocular albinism, digenic"]
["SOX10","waardenburg syndrome type 2e, with neurologic involvement"]
["SOX10","waardenburg syndrome type 2e, without neurologic involvement"]
["EDNRB","waardenburg syndrome type 4a"]
["EDN3","waardenburg syndrome type 4b"]
["SOX10","waardenburg syndrome type 4c"]
["UCP1","waist-to-hip ratio  association with"]
["UCP3","waist-to-hip ratio  association with"]
["C3orf39","walker-warburg syndrome"]
["VKORC1","warfarin resistance  association with"]
["CYP2A6","warfarin response"]
["CYP2C9","warfarin response"]
["VKORC1","warfarin response"]
["F9","warfarin sensitivity"]
["CYP2C9","warfarin sensitivity  association with"]
["F2","warfarin sensitivity  association with"]
["VKORC1","warfarin sensitivity  association with"]
["MSH5","weakened protein interaction"]
["IL10","wegener granulomatosis  association with"]
["FCGR3A","wegeners granulomatosis relapse  association with"]
["LEPR","weight loss due to dieting in overweight women  association"]
["INADL","weight variance  association with"]
["ADAMTS10","weill-marchesani syndrome 1"]
["LTBP2","weill-marchesani syndrome 3"]
["FBN1","weill-marchesani syndrome with thoracic aortic disease"]
["COL11A2","weissenbacher-zweymuller syndrome, autosomal recessive"]
["IGHMBP2","werdnig-hoffmann disease"]
["SMN1","werdnig-hoffmann disease"]
["LMNA","werner syndrome  atypical"]
["ARX","west syndrome"]
["SCN2A","west syndrome"]
["ARFGEF2","west syndrome  microcephaly  periventricular heterotopia  small corpus callosum & psychomotor retardation"]
["SERPINF1","wet age-related macular degeneration  association with"]
["WFS1","wfs1-related disorders"]
["DARC","white blood cell count quantitative trait locus 1"]
["KRT13","white sponge nevus of cannon"]
["NR2F2","whole body insulin sensitivity  association with"]
["BRCA2","wilms' tumor"]
["WT1","wilms' tumor"]
["POU6F2","wilms tumor and radial bilateral aplasia"]
["GPC3","wilms tumor, somatic"]
["WT1","wilms tumour  adult"]
["WAS","wiskott-aldrich syndrome, attenuated"]
["PRKAG2","wolff-parkinson-white syndrome, childhood-onset"]
["LIPA","wolman disease"]
["KRT74","woolly hair  autosomal dominant"]
["KRT71","woolly hair  autosomal dominant & hypotrichosis"]
["LPAR6","woolly hair, autosomal recessive 1"]
["LPAR6","woolly hair, autosomal recessive 1, with or without hypotrichosis"]
["LIPH","woolly hair, autosomal recessive 2, with or without hypotrichosis"]
["LRP5","worth disease"]
["APOA1","xanthelasmas, periorbital"]
["XDH","xanthinuria  type 1"]
["MOCOS","xanthinuria  type 2"]
["XIST","x-chromosome inactivation  familial  skewed"]
["FAM38A","xerocytosis  hereditary"]
["POLH","xeroderma pigmentosum  variant"]
["ERCC5","xeroderma pigmentosum group g/cockayne syndrome"]
["ERCC3","xeroderma pigmentosum, complementation group b"]
["DDB2","xeroderma pigmentosum, complementation group e, ddb-negative form"]
["XPA","xeroderma pigmentosum, type 1"]
["ERCC4","xeroderma pigmentosum, type f"]
["ERCC4","xeroderma pigmentosum, type f/cockayne syndrome"]
["POLH","xeroderma pigmentosum, variant type"]
["FHL1","x-linked dominant scapuloperoneal myopathy"]
["NDP","x-linked familial exudative vitreoretinopathy"]
["AR","x-linked hypospadias 1"]
["MAMLD1","x-linked hypospadias 2"]
["FRMD7","x-linked infantile nystagmus"]
["HDAC8","x-linked intellectual disability  truncal obesity  gynaecomastia  hypogonadism & craniofacial deformities"]
["PDHA1","x-linked leigh syndrome"]
["DCX","x-linked lissencephaly"]
["ARX","x-linked lissencephaly 2"]
["SH2D1A","x-linked lymphoproliferative syndrome 1"]
["XIAP","x-linked lymphoproliferative syndrome 2"]
["IL1RAPL1","x-linked mental retardation 21"]
["HCFC1","x-linked mental retardation 3"]
["PAK3","x-linked mental retardation 30"]
["GDI1","x-linked mental retardation 41"]
["TSPAN7","x-linked mental retardation 58"]
["ACSL4","x-linked mental retardation 63"]
["AGTR2","x-linked mental retardation 88"]
["ZNF41","x-linked mental retardation 89"]
["ZNF674","x-linked mental retardation 92"]
["MAGT1","x-linked mental retardation 95"]
["CUL4B","x-linked mental retardation with short stature, hypogonadism and abnormal gait"]
["UPF3B","x-linked mental retardation, syndromic 14"]
["KDM5C","x-linked mental retardation, syndromic, claes-jensen type"]
["ARX","x-linked mental retardation, with or without seizures, arx-related"]
["FHL1","x-linked myopathy with hypertrophic cardiomyopathy"]
["CLCN5","x-linked recessive hypophosphatemic rickets"]
["SRPX2","x-linked rolandic epilepsy with mental retardation and speech dyspraxia"]
["UBE2A","x-linked syndromic mental retardation, nascimento type"]
["XRCC3","xrcc3 deficiency"]
["RSPO1","xx sex reversal  ppk and scc"]
["NR5A1","xy sex reversal  with adrenal failure"]
["NR5A1","xy sex reversal  without adrenal failure"]
["ACHE","yt blood group polymorphism"]
["ABCD3","zellweger syndrome"]
["PEX16","zellweger syndrome  complementation group d"]
["PEX19","zellweger syndrome  complementation group j"]
["KCNK18","zero basal current"]
["SLC30A2","zinc in breast milk  reduced"]
["ZNF711","znf711-related x-linked mental retardation"]
["GJA3","zonular pulverulent cataract 3"]

{"sheet":"ontology mapped","index":2,"n_rows":41,"n_cols":9,"rows_kept":41,"cut":false,"hidden":false,"merged":[]}
["Gene","Disease Terms","Mechanism","Inheritance Mode","Filter terms","Report Terms","Confidence","GeneTests~GeneReview~OMIM~Pubmed","Approved Symbol"]
["SEPT12","Male infertility","loss of function","Autosomal Dominant","azoospermia$oligospermia","male infertility","HIGH","-~-~611562~-","SEPT12"]
["SEPT9","Neuritis with brachial predilection, NAPB","loss of function","Autosomal Dominant","amyotrophic neuralgia","amyotrophic neuralgia","HIGH","-~-~-~-","SEPT9"]
["A2M","Autism","NULL","NULL","NULL","NULL","NULL","-~-~103950~-","A2M"]
["A2M","Chronic obstructive pulmonary disease","loss of function","Autosomal Dominant","chronic obstructive pulmonary disease","chronic obstructive pulmonary disease","HIGH","-~-~103950~-","A2M"]
["A4GALT","Histo-blood group variant$Pk synthase deficiency","loss of function","Autosomal Recessive","blood group incompatibility","blood group p","HIGH","-~-~607922~-","A4GALT"]
["AAA1","Reduced signalling","NULL","No record in HGMD for this gene","NULL","NULL","NULL","-~-~608596~-","AAA1"]
["AAAS","Axonal neuropathy$Triple-A syndrome$Achalasia-addisonianism-alacrimia syndrome","loss of function","Autosomal Recessive","triple-A syndrome$achalasia$Addison's disease","triple-A syndrome","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8086[geneid]~-~605378~-","AAAS"]
["AADACL2","Autism","NULL","NULL","NULL","NULL","NULL","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=344752[geneid]~-~-~-","AADACL2"]
["AARS","Altered mRNA folding","NULL","No disease associated","NULL","NULL","NULL","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=16[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~601065~-","AARS"]
["AARS","Charcot-Marie-Tooth disease 2$Charcot-Marie-Tooth disease, axonal$Hereditary motor neuropathy","loss of function","Autosomal Dominant","Charcot-Marie-Tooth disease type 2$distal hereditary motor neuropathy","Charcot-Marie-Tooth disease type 2","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=16[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1285~601065~-","AARS"]
["AARS2","Mitochondrial cardiomyopathy, infantile$Mitochondrial DNA depletion syndrome","loss of function","Autosomal Recessive","mitochondrial myopathy$fatal infantile mitochondrial cardiomyopathy$cardiomyopathy$combined oxidative phosphorylation deficiency 8","mitochondrial myopathy","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57505[geneid]~-~612035~-","AARS2"]
["AASS","Hyperlysinaemia","loss of function","Autosomal Recessive","hyperlysinemia","hyperlysinemia","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10157[geneid]~-~605113~-","AASS"]
["ABAT","GABA-transaminase deficiency","loss of function","Autosomal Recessive","GABA aminotransferase deficiency","GABA aminotransferase deficiency","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=18[geneid]~-~137150~-","ABAT"]
["ABCA1","Autism spectrum disorder","NULL","NULL","NULL","NULL","NULL","-~-~600046~-","ABCA1"]
["ABCA1","HDL deficiency$Reduced plasma HDL cholesterol$Tangier disease$Altered HDL cholesterol levels$Increased triglyceride levels$Scott syndrome","loss of function","Autosomal Recessive","Tangier disease","Tangier disease","HIGH","-~-~600046~-","ABCA1"]
["ABCA1","Increased plasma HDL cholesterol","gain of function","Autosomal Recessive","familial hypercholesterolemia","familial hypercholesterolemia","HIGH","-~-~600046~-","ABCA1"]
["ABCA12","Autism","NULL","NULL","NULL","NULL","NULL","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA12","Ichthyosiform erythroderma, congenital$Ichthyosiform erythroderma, congenital, nonbullous$Ichthyosis$Ichthyosis, harlequin$Ichthyosis, lamellar, type 2","loss of function","Autosomal Recessive","congenital ichthyosiform erythroderma$skin disease","congenital ichthyosiform erythroderma","HIGH","-~http://www.ncbi.nlm.nih.gov/books/NBK1420~607800~-","ABCA12"]
["ABCA13","Autism$Bipolar disorder$Schizophrenia$Schizophrenia / bipolar disorder / depression$Schizophrenia / depression","loss of function","Autosomal Recessive","schizophrenia$bipolar disorder$major depressive disorder$autistic disorder","cognitive disorder","HIGH","-~-~607807~-","ABCA13"]
["ABCA2","Alzheimer disease, early onset AD$Autism","loss of function","Risk","Alzheimer's disease$autistic disorder","cognitive disorder","HIGH","-~-~600047~15649702","ABCA2"]
["ABCA3","Respiratory distress, neonatal$Respiratory distress syndrome$Respiratory distress$Pneumonitis, desquamative interstitial$Pneumonia, neonatal interstitial$Neonatal respiratory distress / interstitial lung disease$Lung disease, interstitial$Lung disease$Fatal surfactant deficiency$Chronic lung disease$Chronic respiratory insufficiency$Pulmonary hypertension","loss of function","Autosomal Recessive","surfactant metabolism dysfunction$adult respiratory distress syndrome$neonatal respiratory failure$newborn respiratory distress syndrome$desquamative interstitial pneumonia$nonspecific interstitial pneumonia$interstitial lung disease$pulmonary hypertension","interstitial lung disease","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=21[geneid]~-~601615~-","ABCA3"]
["ABCA4","Cone-rod dystrophy$Cone-rod degeneration$Cone dystrophy$Cone dystrophy, Autosomal Recessive$Cone-rod dystrophy with extensive atrophy$Cone-rod dystrophy, Autosomal Recessive$Stargardt disease, late-onset$Stargardt disease and macular degeneration$Stargardt disease$Retinopathy$Retinitis pigmentosa$Retinal dystrophy$Retinal degeneration$Maculopathy, atypical$Macular dystrophy, early-onset$Macular dystrophy, concentric annular$Fundus flavimaculatus$Fundus flavimaculatus, late onset$Chorioretinal atrophy$Macular degeneration, age related$Macular dystrophy","loss of function","Autosomal Recessive","cone-rod dystrophy$macular degeneration$retinitis pigmentosa","retinal disease","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=24[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1417~601691~-","ABCA4"]
["ABCB1","Colorectal cancer$P-glycoprotein deficiency","loss of function","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~171050~-","ABCB1"]
["ABCB11","Increased mature protein levels","NULL","NULL","NULL","NULL","NULL","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB11","Transient neonatal cholestasis$Prolonged neonatal hepatitis$Intrahepatic cholestasis, familial progressive 2$Intrahepatic cholestasis, familial progressive$Intrahepatic cholestasis, familial benign$Intrahepatic cholestasis, benign recurrent 2$Intrahepatic cholestasis, benign recurrent$Intrahepatic cholestasis of pregnancy$Cholestasis, intrahepatic$Cholestasis, drug-induced$Alternate splicing","loss of function","Autosomal Dominant","intrahepatic cholestasis","intrahepatic cholestasis","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8647[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1297~603201~-","ABCB11"]
["ABCB4","Cholangitis$Cholangitis and cholangiocarcinoma$Cholestasis, anicteric$Cholestasis, drug-induced$Cholestasis, intrahepatic$Cholesterol gallstone disease$Hepatocellular injury, drug-induced$Intrahepatic cholestasis of pregnancy$Intrahepatic cholestasis, familial progressive$Intrahepatic cholestasis, familial progressive 3$LPAC syndrome with dilation of the bile ducts and gallstones$LPAC syndrome with intrahepatic cholestasis of pregnancy$Pancreatitis & cholelithiasis","loss of function","Autosomal Dominant","cholangitis$intrahepatic cholestasis$low phospholipid-associated cholelithiasis","cholestasis and/or cholangitis","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5244[geneid]~-~171060~-","ABCB4"]
["ABCB5","Autism spectrum disorder","NULL","NULL","NULL","NULL","NULL","-~-~611785~-","ABCB5"]
["ABCB6","Dyschromatosis universalis hereditaria$Ocular coloboma$Pseudohyperkalaemia, familial","loss of function","Autosomal Dominant","microphthalmia$coloboma of optic nerve$coloboma$reticulate acropigmentation$hypokalemia","microphthalmia, occular coloboma, and dyschromatosis universalis hereditaria","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10058[geneid]~-~605452~-","ABCB6"]
["ABCB6","Lan","loss of function","Autosomal Recessive","blood group incompatibility","blood group lan","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10058[geneid]~-~605452~-","ABCB6"]
["ABCB7","Sideroblastic anaemia and ataxia","loss of function","X-linked Recessive","sideroblastic anemia$spinocerebellar ataxia","sideroblastic anemia and ataxia","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=22[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1321~300135~-","ABCB7"]
["ABCC1","Altered subcellular localization$Anthracycline-induced cardiotoxicity$Decreased estradiol 17beta-glucuronide transport$Increased doxorubicin resistance$Increased multidrug response$Multidrug resistance","loss of function","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","HIGH","-~-~158343~-","ABCC1"]
["ABCC12","Potential protein deficiency","NULL","NULL","NULL","NULL","NULL","-~-~607041~-","ABCC12"]
["ABCC2","Dubin-Johnson syndrome$Methotrexate elimination, impaired$Reduced expression$Reduced mRNA expression","loss of function","Autosomal Recessive","Dubin-Johnson syndrome","Dubin-Johnson syndrome","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1244[geneid]~-~601107~-","ABCC2"]
["ABCC3","Abnormal intracellular accumulation$Altered mRNA expression$Null allele$Potential protein deficiency$Reduced transport activity","loss of function","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","NULL","-~-~604323~-","ABCC3"]
["ABCC4","Increased promoter activity$Reduced function","loss of function","Pharmacogenetic","Drug Response:Modifier","Drug Response:Modifier","NULL","-~-~605250~-","ABCC4"]
["ABCC6","Abdominal aortic aneurysm$Angioid streaks, macular dysfunction and generalised retinal involvement$Generalized arterial calcification of infancy$Pseudoxanthoma elasticum & Moya Moya disease$Angioid streaks$Pseudoxanthoma elasticum$Pseudoxanthoma elasticum with angioid streaks","loss of function","Autosomal Recessive","pseudoxanthoma elasticum$angioid streaks$generalized arterial calcification of infancy$Moyamoya disease","pseudoxanthoma elasticum","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=368[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1113~603234~-","ABCC6"]
["ABCC8","Hyperinsulinism$Hyperinsulinism of infancy$Hyperinsulinism, diffuse congenital$Hyperinsulinism, focal congenital$Hypoglycaemia, hyperinsulinaemic$Hypoglycaemia, persistent hyperinsulinaemic","loss of function","Autosomal Recessive","hyperinsulinism$hyperinsulinemic hypoglycemia","hyperinsulinemic hypoglycemia","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC8","Developmental delay, epilepsy & neonatal diabetes$Diabetes, adult-onset$Diabetes, MODY$Diabetes, neonatal$Diabetes, neonatal/adult-onset$Diabetes, NIDDM$Diabetes, permanent neonatal$Diabetes, transient neonatal$Hyperglycaemia","gain of function","Autosomal Dominant","type 2 diabetes mellitus$neonatal diabetes mellitus$hyperglycemia","neonatal diabetes mellitus","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6833[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1447$http://www.ncbi.nlm.nih.gov/books/NBK1375~600509~-","ABCC8"]
["ABCC9","Atrial fibrillation$Cardiomyopathy, dilated","loss of function","Autosomal Recessive","familial atrial fibrillation$dilated cardiomyopathy","atrial fibrillation and cardiomyopathy","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10060[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601439~-","ABCC9"]
["ABCC9","Hypertrichotic osteochondrodysplasia$Cantu syndrome","gain of function","Autosomal Dominant","osteochondrodysplasia$hypertrichosis$hypertrophic cardiomyopathy","hypertrichotic osteochondrodysplasia","HIGH","http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10060[geneid]~http://www.ncbi.nlm.nih.gov/books/NBK1309~601439~-","ABCC9"]

{"sheet":"DO Additions","index":3,"n_rows":9,"n_cols":6,"rows_kept":9,"cut":false,"hidden":false,"merged":[]}
["New Terms",null,null,null,"Synonyms"]
[]
["New Term","is_a",null,null,"Existing Term","synonym"]
["fatal infantile mitochondrial cardiomyopathy","mitochondrial metabolism disease",null,null,"hyperlysinemia","saccharopinuria"]
["combined oxidative phosphorylation deficiency 8","combined oxidative phosphorylation deficiency",null,null,"cone-rod dystrophy$macular degeneration","fundus flavimaculatus$stargardt disease"]
["combined oxidative phosphorylation deficiency","mitochondrial metabolism disease",null,null,"reticulate acropigmentation","dyschromatosis symmetrica hereditaria"]
["surfactant metabolism dysfunction","respiratory failure"]
["low phospholipid-associated cholelithiasis","cholestasis"]
["reticulate acropigmentation","pigmentation disease"]

{"sheet":"autism","index":4,"n_rows":46,"n_cols":1,"rows_kept":46,"cut":false,"hidden":false,"merged":[]}
["ARID1B"]
["BRSK2"]
["WDR9"]
["CACNA1D"]
["CACNA1E"]
["CDC42BPB"]
["CDH5"]
["CHD3"]
["CHD7"]
["CHD8"]
["CNOT4"]
["CTNNB1"]
["CUL3"]
["CUL5"]
["DYRK1A"]
["EHD2"]
["FBXO10"]
["GPS1"]
["MDM2"]
["KMT2C"]
["NLGN1"]
["NOTCH3"]
["NR4A2"]
["NTNG1"]
["OPRL1"]
["PCDHB4"]
["PDCD1"]
["PSEN1"]
["PTEN"]
["PTPRK"]
["RGMA"]
["RPS6KA3"]
["RUVBL1"]
["SESN2"]
["SETBP1"]
["SETD2"]
["TBL1XR1"]
["TBR1"]
["TNKS"]
["TSC2"]
["TSPAN17"]
["UBE3C"]
["UBR3"]
["USP15"]
["ZBTB41"]
["ZNF420"]