MENDELIOME GENE PANEL DGD141114

Transcription

1 MENDELIOME GENE PANEL DGD Gene Median % covered % covered Associated Phenotype description and OMIM ID coverage > 10x > 20x A4GALT % 100% [Blood group, P1Pk system, p phenotype], [Blood group, P1Pk system, P(2) phenotype], NOR polyagglutination syndrome, AAAS % 99% Achalasia-addisonianism-alacrimia syndrome, AAGAB % 95% Keratoderma, palmoplantar, punctate type IA, AARS % 95% Charcot-Marie-Tooth disease, axonal, type 2N, AARS % 96% Combined oxidative phosphorylation deficiency 8, AASS % 99% Hyperlysinemia, Saccharopinuria, (1) ABAT % 92% GABA-transaminase deficiency, ABCA % 99% Tangier disease, HDL deficiency, type 2, {Coronary artery disease in familial hypercholesterolemia, protection against}, ABCA % 99% Ichthyosis, congenital, autosomal recessive 4A, Ichthyosis, autosomal recessive 4B (harlequin), ABCA % 96% Surfactant metabolism dysfunction, pulmonary, 3, ABCA % 96% Stargardt disease 1, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Macular degeneration, age-related, 2, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, ABCB % 97% Cholestasis, progressive familial intrahepatic 2, Cholestasis, benign recurrent intrahepatic, 2, ABCB % 95% Cholestasis, progressive familial intrahepatic 3, Cholestasis, intrahepatic, of pregnancy, 3, Gallbladder disease 1, ABCB % 98% Microphthalmia, isolated, with coloboma 7, [Blood group, Langereis system], Dyschromatosis universalis hereditaria 3,

2 ABCB % 94% Anemia, sideroblastic, with ataxia, ABCC % 99% Dubin-Johnson syndrome, ABCC % 67% Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, ABCC % 97% Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine-sensitive, Diabetes mellitus, transient neonatal 2, Diabetes mellitus, noninsulin-dependent, Diabetes mellitus, permanent neonatal, 6 ABCC % 98% Cardiomyopathy, dilated, 1O, Atrial fibrillation, familial, 12, Hypertrichotic osteochondrodysplasia, ABCD % 64% Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, ABCD % 97% Methylmalonic aciduria and homocystinuria, cblj type, ABCG % 87% Sitosterolemia, ABCG % 96% Sitosterolemia, Gallbladder disease 4, ABHD % 83% Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, ABHD % 100% Chanarin-Dorfman syndrome, ABL % 97% Leukemia, Philadelphia chromosome-positive, resistant to imatinib ACAD % 94% Isobutyryl-CoA dehydrogenase deficiency, ACAD % 99% ACAD9 deficiency, ACADM % 100% Acyl-CoA dehydrogenase, medium chain, deficiency of, ACADS % 100% Acyl-CoA dehydrogenase, short-chain, deficiency of, ACADSB % 96% 2-methylbutyrylglycinuria, ACADVL % 98% VLCAD deficiency, ACAN % 90% Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Osteochondritis dissecans, short stature, and early-onset osteoarthritis, ACAT % 98% Alpha-methylacetoacetic aciduria,

3 ACE % 95% {Myocardial infarction, susceptibility to} {Alzheimer disease, susceptibility to}, {Microvascular complications of diabetes 3}, [Angiotensin I-converting enzyme, benign serum increase] {SARS, progression of} Renal tubular ACO % 83% Infantile cerebellar-retinal degeneration, ACOX % 93% Peroxisomal acyl-coa oxidase deficiency, ACP % 100% Spondyloenchondrodysplasia with immune dysregulation, ACSF % 99% Combined malonic and methylmalonic aciduria, ACSL % 97% Mental retardation, X-linked 63, ACSL % 99% Myelodysplastic syndrome Myelogenous leukemia, acute ACTA % 94% Nemaline myopathy 3, autosomal dominant or recessive, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, actin, congenital, with cores, Myopathy, congenital, with fiber-type disproportion 1, ACTA % 99% Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5, ACTB % 90% Dystonia, juvenile-onset, Baraitser-Winter syndrome 1, ACTC % 93% Cardiomyopathy, dilated, 1R, Cardiomyopathy, familial hypertrophic, 11, Atrial septal defect 5, Left ventricular noncompaction 4, ACTG % 93% Deafness, autosomal dominant 20/26, Baraitser-Winter syndrome 2, ACTN % 97% Bleeding disorder, platelet-type, 15, ACTN % 96% Glomerulosclerosis, focal segmental, 1, ACVR % 97% Fibrodysplasia ossificans progressiva, ACVR1B % 92% Pancreatic cancer, somatic ACVR2B % 96% Heterotaxy, visceral, 4, autosomal, ACVRL % 86% Telangiectasia, hereditary hemorrhagic, type 2, ACY % 97% Aminoacylase 1 deficiency, ADA % 95% Severe combined immunodeficiency due to ADA deficiency, Adenosine deaminase deficiency, partial,

4 ADAM % 100% Reticulate acropigmentation of Kitamura, {Alzheimer disease 18, susceptibility to} ADAM % 98% Inflammatory skin and bowel disease, neonatal, ADAM % 98% Cone-rod dystrophy 9, ADAMTS % 92% Weill-Marchesani syndrome 1, recessive, ADAMTS % 84% Thrombotic thrombocytopenic purpura, familial, ADAMTS % 84% Weill-Marchesani-like syndrome, ADAMTS % 98% Microcornea, myopic chorioretinal atrophy, and telecanthus, ADAMTS % 92% Ehlers-Danlos syndrome, type VIIC, ADAMTSL % 79% Geleophysic dysplasia 1, ADAMTSL % 96% Ectopia lentis, isolated, autosomal recessive, Ectopia lentis et pupillae, ADAR % 98% Dyschromatosis symmetrica hereditaria, Aicardi-Goutieres syndrome 6, ADAT % 99% Mental retardation, autosomal recessive 36, ADCK % 95% Coenzyme Q10 deficiency primary 4 ADCK % 91% Nephrotic syndrome, type 9, (3) ADCY % 94% Dyskinesia, familial, with facial myokymia, ADIPOQ % 100% Adiponectin deficiency, ADK % 94% Hypermethioninemia due to adenosine kinase deficiency, ADRB % 100% {Asthma, nocturnal, susceptibility to}, {Obesity, susceptibility to}, Beta-2-adrenoreceptor agonist, reduced response to ADSL % 98% ade(-)i bifunctional Adenylosuccinase deficiency, AFF % 95% Mental retardation, X-linked, FRAXE type, AFG3L % 91% Spinocerebellar ataxia 28, Ataxia, spastic, 5, autosomal recessive, AGA % 89% Aspartylglucosaminuria AGBL % 99% Corneal dystrophy, Fuchs endothelial, 8, (3) AGK % 100% Sengers syndrome, Cataract 38, autosomal recessive,

5 AGL % 100% Glycogen storage disease IIIa, Glycogen storage disease IIIb, AGPAT % 82% Lipodystrophy, congenital generalized, type 1, AGPS % 100% Rhizomelic chondrodysplasia punctata, type 3, AGRN % 90% Myasthenia, limb-girdle, familial, AGT % 100% {Hypertension, essential, susceptibility to}, {Preeclampsia, susceptibility to} Renal tubular dysgenesis, AGTR % 97% Hypertension, essential, Renal tubular dysgenesis, AGXT % 90% Hyperoxaluria, primary, type 1, AHCY % 73% Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, AHI % 99% Joubert syndrome-3, AICDA % 99% Immunodeficiency with hyper-igm, type 2, AIFM % 88% Combined oxidative phosphorylation deficiency 6, Cowchock syndrome, AIMP % 100% Leukodystrophy, hypomyelinating, 3, AIP % 91% Pituitary adenoma, growth hormone-secreting, Pituitary adenoma, prolactin-secreting, Pituitary adenoma, ACTH-secreting, AIPL % 100% Leber congenital amaurosis 4, Retinitis pigmentosa, juvenile, Cone-rod dystrophy, AIRE % 91% Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, AK % 98% Hemolytic anemia due to adenylate kinase deficiency, AK % 75% Reticular dysgenesis, AKAP % 99% Long QT syndrome-11, AKR1C % 75% Obesity, hyperphagia, and developmental delay 46XY sex reversal 8, AKR1D % 100% Bile acid synthesis defect, congenital, 2,

6 AKT % 97% IGH Breast cancer, somatic, Colorectal cancer, somatic, Ovarian cancer, somatic, {Schizophrenia, susceptibility to}, (2) Proteus syndrome, somatic, Cowden syndrome 6, AKT % 96% Diabetes mellitus, type II, Hypoinsulinemic hypoglycemia with hemihypertrophy, AKT % 94% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, ALAD % 95% Porphyria, acute hepatic, {Lead poisoning, susceptibility to}, ALAS % 79% Anemia, sideroblastic, X-linked, Protoporphyria, erythropoietic, X-linked, ALB % 97% Analbuminemia [Dysalbuminemic hyperthyroxinemia] [Dysalbuminemic hyperzincemia], (1) ALDH18A % 91% Cutis laxa, autosomal recessive, type IIIA, ALDH1A % 93% Microphthalmia, isolated 8, ALDH % 93% Alcohol sensitivity, acute, {Hangover, susceptibility to}, {Sublingual nitroglycerin, susceptibility to poor response to} {Esophageal cancer, alcohol-related, susceptibility to} ALDH3A % 100% Sjogren-Larsson syndrome, ALDH4A % 89% Hyperprolinemia, type II, ALDH5A % 95% Succinic semialdehyde dehydrogenase deficiency, ALDH6A % 100% Methylmalonate semialdehyde dehydrogenase deficiency, ALDH7A % 87% Epilepsy, pyridoxine-dependent, ALDOA % 94% Glycogen storage disease XII, ALDOB % 98% Fructose intolerance, ALG % 45% Congenital disorder of glycosylation, type Ik, ALG % 100% Congenital disorder of glycosylation, type Ip, ALG % 97% Congenital disorder of glycosylation, type Ig, ALG % 85% Congenital disorder of glycosylation, type Is, ALG % 97% Congenital disorder of glycosylation, type Ii, ALG % 93% Congenital disorder of glycosylation, type Id,

7 ALG % 100% Congenital disorder of glycosylation, type Ic, ALG % 95% Congenital disorder of glycosylation, type Ih, ALG % 99% Congenital disorder of glycosylation, type Il, ALMS % 98% Alstrom syndrome, ALOX12B % 99% Ichthyosis, congenital, autosomal recessive 2, ALOXE % 96% Ichthyosis, congenital, autosomal recessive 3, ALPL % 100% Hypophosphatasia, infantile, Hypophosphatasia, childhood, Odontohypophosphatasia, Hypophosphatasia, adult, ALS % 97% Amyotrophic lateral sclerosis 2, juvenile, Primary lateral sclerosis, juvenile, Spastic paralysis, infantile onset ascending, ALX % 100% Frontonasal dysplasia 3, ALX % 80% Frontonasal dysplasia 1, ALX % 98% Parietal foramina 2, Frontonasal dysplasia 2, AMACR % 100% Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect, congenital, 4, AMELX % 96% Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E, AMER % 98% Osteopathia striata with cranial sclerosis AMH % 71% Persistent Mullerian duct syndrome, type I, AMHR % 99% Persistent Mullerian duct syndrome, type II, AMN % 85% Megaloblastic anemia-1, Norwegian type, AMPD % 99% Myoadenylate deaminase deficiency AMT % 99% Glycine encephalopathy, ANG % 99% Amyotrophic lateral sclerosis 9, ANGPTL % 99% Hypobetalipoproteinemia, familial, 2, ANK % 96% Spherocytosis, type 1, ANK % 99% Long QT syndrome-4, Cardiac arrhythmia, ankyrin-b-related, ANKH % 99% Craniometaphyseal dysplasia, Chondrocalcinosis 2, ANKK % 99% Dopamine receptor D2, reduced brain density of ANKRD % 87% KBG syndrome, ANKRD % 97% Thrombocytopenia 2,

8 ANKS % 85% Nephronophthisis 16, ANO % 97% Spinocerebellar ataxia, autosomal recessive 10, ANO % 100% Dystonia 24, ANO % 100% Gnathodiaphyseal dysplasia, Muscular dystrophy, limb-girdle, type 2L, Miyoshi muscular dystrophy 3, ANO % 95% Scott syndrome, ANTXR % 91% {Hemangioma, capillary infantile, susceptibility to}, GAPO syndrome, ANTXR % 100% Hyaline fibromatosis syndrome, AP1S % 99% MEDNIK syndrome, AP1S % 100% Mental retardation, X-linked syndromic, Fried type, AP2S % 100% Hypocalciuric hypercalcemia, familial, type III, AP3B % 99% Hermansky-Pudlak syndrome 2, AP4B % 100% Spastic paraplegia 47, autosomal recessive, AP4E % 99% Spastic paraplegia 51, autosomal recessive, AP4M % 98% Spastic paraplegia 50, autosomal recessive, AP4S % 87% Spastic paraplegia 52, autosomal recessive, AP5Z % 90% Spastic paraplegia 48, autosomal recessive, APC % 100% Adenomatous polyposis coli, Gastric cancer, somatic, Adenoma, periampullary, somatic Hepatoblastoma, somatic, Desmoid disease, hereditary, Colorectal cancer, somatic, Brain tumor-polyposis syndrom APCDD % 99% Hypotrichosis simplex, APOA % 95% ApoA-I and apoc-iii deficiency, combined Hypoalphalipoproteinemia, Corneal clouding, autosomal recessive Amyloidosis, 3 or more types, APOA % 100% Apolipoprotein A-II deficiency {Hypercholesterolemia, familial, modification of}, APOA % 100% {Hypertriglyceridemia, susceptibility to}, Hyperchylomicronemia, late-onset,

9 APOB % 99% Ag linked Hypobetalipoproteinemia Hypobetalipoproteinemia, normotriglyceridemic Hypercholesterolemia, due to ligand-defective apo B, APOC % 100% Hyperlipoproteinemia, type Ib, APOC % 100% Hyperalphalipoproteinemia 2, APOE % 73% {Myocardial infarction, susceptibility to}, APOE % 73% Hyperlipoproteinemia, type III {Myocardial infarction susceptibility} Sea-blue histiocyte disease, Alzheimer disease-2, {?Macular degeneration, age-related}, Lipoprotein glomerulopathy, APP % 99% Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, Alzheimer disease 1, familial, APRT % 91% Adenine phosphoribosyltransferase deficiency, APTX % 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, AQP % 87% Diabetes insipidus, nephrogenic, AQP % 94% Palmoplantar keratoderma, Bothnian type, AR % 92% Androgen insensitivity, Spinal and bulbar muscular atrophy of Kennedy, Androgen insensitivity, partial, with or without breast cancer, {Prostate cancer, susceptibility to}, Hypospadias 1, X-linked, ARFGEF % 99% Periventricular heterotopia with microcephaly, ARG % 91% Argininemia, ARHGAP % 99% Leukemia, juvenile myelomonocytic, ARHGAP % 99% Adams-Oliver syndrome 1, ARHGEF % 94% Slowed nerve conduction velocity, AD, ARHGEF % 99% Leukemia, acute myeloid, ARHGEF % 93% Mental retardation, X-linked 46,

10 ARHGEF % 87% Epileptic encephalopathy, early infantile, 8, ARID1A % 95% Mental retardation, autosomal dominant 14, ARID1B % 98% Mental retardation, autosomal dominant 12, ARL13B % 95% Joubert syndrome 8, ARL2BP % 96% Retinitis pigmentosa with or without situs inversus, ARL % 100% Bardet-Biedl syndrome 3, {Bardet-Biedl syndrome 1, modifier of}, Retinitis pigmentosa 55, ARMC % 85% Ciliary dyskinesia, primary, 23, ARNT % 92% Leukemia, acute myeloblastic ARSA % 94% Metachromatic leukodystrophy, ARSB % 99% Mucopolysaccharidosis type VI (Maroteaux-Lamy), ARSE % 75% Chondrodysplasia punctata, X-linked recessive, ARX % 62% Epileptic encephalopathy, early infantile, 1, Lissencephaly, X-linked 2, Mental retardation, X-linked 29 and others, Proud syndrome, Partington syndrome, Hydranencephaly with abnormal genitalia, ASAH % 100% Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy, ASB % 86% Glaucoma 1, open angle, F, ASCC % 88% Barrett esophagus/esophageal adenocarcinoma, ASCL % 100% Central hypoventilation syndrome, congenital, Haddad syndrome, ASL % 96% Argininosuccinic aciduria, ASNS % 87% temperature sensitive G1 mutant ASPA % 99% Canavan disease, ASPM % 99% Microcephaly 5, primary, autosomal recessive, ASPSCR % 93% Alveolar soft-part sarcoma, ASS % 60% Citrullinemia, ASXL % 96% Bohring-Opitz syndrome, Myelodysplastic syndrome, somatic, ASXL % 99% Bainbridge-Ropers syndrome, ATCAY % 100% Ataxia, cerebellar, Cayman type,

11 ATIC % 99% AICA-ribosiduria due to ATIC deficiency, ATL % 99% Spastic paraplegia 3A, autosomal dominant, Neuropathy, hereditary sensory, type ID, ATL % 97% Neuropathy, hereditary sensory, type IF, ATM % 99% Ataxia-telangiectasia, Lymphoma, B-cell non-hodgkin, somatic {Breast cancer, susceptibility to}, Lymphoma, mantle cell T-cell prolymphocytic leukemia, somatic ATN % 97% Dentatorubro-pallidoluysian atrophy, ATP13A % 91% Parkinson disease 9, ATP1A % 98% Migraine, familial hemiplegic, 2, Alternating hemiplegia of childhood, Migraine, familial basilar, ATP1A % 98% Dystonia-12, Alternating hemiplegia of childhood 2, ATP2A % 99% Brody myopathy, ATP2A % 100% Darier disease, Acrokeratosis verruciformis, ATP2C % 100% Hailey-Hailey disease, ATP5E % 100% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, ATP6V0A % 99% Cutis laxa, autosomal recessive, type IIA, Wrinkly skin syndrome, ATP6V0A % 93% Renal tubular acidosis, distal, autosomal recessive, ATP6V1B % 98% Renal tubular acidosis with deafness ATP7A % 97% Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3, ATP7B % 98% Wilson disease, ATP8B % 98% Cholestasis, progressive familial intrahepatic 1, Cholestasis, benign recurrent intrahepatic, Cholestasis, intrahepatic, of pregnancy, 1, ATPAF % 98% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1,

12 ATR % 99% Seckel syndrome 1, Cutaneous telangiectasia and cancer syndrome, familial, ATRX % 98% Alpha-thalassemia/mental retardation syndrome, Alpha-thalassemia myelodysplasia syndrome, somatic, Mental retardation-hypotonic facies syndrome, X-linked, ATXN % 100% Spinocerebellar ataxia 1, ATXN % 100% Spinocerebellar ataxia 10, ATXN % 80% Spinocerebellar ataxia 2, {Amyotrophic lateral sclerosis, susceptibility to, 13}, ATXN % 100% Machado-Joseph disease, ATXN % 95% Spinocerebellar ataxia 7, AUH % 100% 3-methylglutaconic aciduria, type I, AURKC % 99% Spermatogenic failure 5 AVP % 68% Diabetes insipidus, neurohypophyseal, AVPR % 89% Diabetes insipidus, nephrogenic, Nephrogenic syndrome of inappropriate antidiuresis, AXIN % 92% Hepatocellular carcinoma, somatic, Caudal duplication anomaly, AXIN % 92% Oligodontia-colorectal cancer syndrome, Colorectal cancer, somatic, B2M % 100% Hypoproteinemia, hypercatabolic, B3GALNT % 87% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A 11 B3GALT % 75% Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, Ehlers-Danlos syndrome, progeroid type, 2, B3GALTL % 95% Peters-plus syndrome, B3GAT % 83% Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, B3GNT % 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, B4GALNT % 86% Spastic paraplegia 26, autosomal recessive, B4GALT % 100% Congenital disorder of glycosylation, type IId, B4GALT % 95% Ehlers-Danlos syndrome, progeroid type, 1, B9D % 93% Meckel syndrome 9, B9D % 98% Meckel syndrome 10,

13 BAAT % 99% Hypercholanemia, familial, BAG % 100% Myopathy, myofibrillar, 6, Cardiomyopathy, dilated, 1HH, BANF % 54% Nestor-Guillermo progeria syndrome, BAP % 98% Tumor predisposition syndrome, BAX % 95% Colorectal cancer T-cell acute lymphoblastic leukemia BBS % 98% Bardet-Biedl syndrome 1, BBS % 100% Bardet-Biedl syndrome 10, BBS % 100% Bardet-Biedl syndrome 12, BBS % 99% Bardet-Biedl syndrome 2, BBS % 91% Bardet-Biedl syndrome 4, BBS % 100% Bardet-Biedl syndrome 5, BBS % 99% Bardet-Biedl syndrome 7, BBS % 100% Bardet-Biedl syndrome 9 BCAP % 72% Deafness, dystonia, and cerebral hypomyelination, (3) BCHE % 100% Apnea, postanesthetic BCKDHA % 98% Maple syrup urine disease, type Ia, BCKDHB % 84% Maple syrup urine disease, type Ib, BCKDK % 100% Branched-chain ketoacid dehydrogenase kinase deficiency, BCL % 89% Lymphoma, MALT, somatic, {Lymphoma, follicular, somatic}, {Male germ cell tumor, somatic}, , {Sezary syndrome, somatic}, {Mesothelioma, somatic}, BCL % 99% Leukemia/lymphoma, B-cell, 2 BCL7A % 86% B-cell non-hodgkin lymphoma, high-grade BCO % 99% Hypercarotenemia and vitamin A deficiency, autosomal dominant, BCOR % 93% Microphthalmia, syndromic 2, BCR % 83% Leukemia, chronic myeloid, Leukemia, acute lymphocytic, BCS1L % 100% Mitochondrial complex III deficiency, nuclear type 1, Leigh syndrome, Bjornstad syndrome, GRACILE syndrome,

14 BDNF % 96% {Memory impairment, susceptibility to} Central hypoventilation syndrome, congenital, {Obsessive-compulsive disorder, protection against}, {Bulimia nervosa, age of onset of weight loss in}, {Anorexia nervosa, susceptibi BEAN % 100% Spinocerebellar ataxia 31 BEST % 97% Best macular dystrophy, Maculopathy, bull's-eye Vitelliform macular dystrophy, adult-onset, Bestrophinopathy, Vitreoretinochoroidopathy, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1 BFSP % 100% Cataract 33, BFSP % 92% Cataract 12, multiple types, BICD % 96% Spinal muscular atrophy, lower extremity-predominant, 2, AD, BIN % 75% Myopathy, centronuclear, autosomal recessive, BLK % 99% Maturity-onset diabetes of the young, type 11, BLM % 100% Bloom syndrome BLNK % 100% Agammaglobulinemia 4, BLOC1S % 68% Hermansky-Pudlak syndrome 8, BLOC1S % 92% Hermansky-pudlak syndrome 9, BLVRA % 99% Hyperbiliverdinemia, BMP % 95% Osteogenesis imperfecta, type XIII, BMP % 100% Ovarian dysgenesis 2, Premature ovarian failure 4, BMP % 100% {HFE hemochromatosis, modifier of}, Brachydactyly, type A2, BMP % 100% Microphthalmia, syndromic 6, Orofacial cleft 11, BMPER % 97% Diaphanospondylodysostosis, BMPR1A % 63% Polyposis, juvenile intestinal, Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, infantile form, BMPR1B % 96% Brachydactyly, type A2, Chrondrodysplasia, acromesomelic, with genital anomalies,

15 BMPR % 99% Pulmonary hypertension, familial primary, 1, with or without HHT, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, Pulmonary venoocclusive disease, BOLA % 99% Multiple mitochondrial dysfunctions syndrome 2, BPGM % 100% Erythrocytosis due to bisphosphoglycerate mutase deficiency, BRAF % 99% Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic, Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome, Noonan syndrome 7, LEOPARD syndrome 3, BRAT % 98% Rigidity and multifocal seizure syndrome, lethal neonatal, BRCA % 100% {Breast-ovarian cancer, familial, 2}, Fanconi anemia, complementation group D1, Prostate cancer, {Breast cancer, male, susceptibility to}, Wilms tumor, {Medulloblastoma}, {Glioblastoma 3}, BRIP % 100% Breast cancer early-onset BRWD % 96% Mental retardation, X-linked 93, BSCL % 100% Lipodystrophy, congenital generalized, type 2, Silver spastic paraplegia syndrome, Neuropathy, distal hereditary motor, type V, BSND % 98% Bartter syndrome, type 4a, Sensorineural deafness with mild renal dysfunction, BTD % 100% Biotinidase deficiency, BTK % 95% Agammaglobulinemia, X-linked 1, Agammaglobulinemia and isolated hormone deficiency, BUB % 94% Colorectal cancer with chromosomal instability BUB1B % 98% Colorectal cancer, somatic, Mosaic variegated aneuploidy syndrome 1, [Premature chromatid separation trait], C10orf % 100% Albinism, oculocutaneous, type VII,

16 C10orf % 100% Progressive external ophthalmoplegia, autosomal dominant, 3, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), C12orf % 96% Temtamy syndrome, C12orf % 100% Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55, autosomal recessive, C15orf % 82% Dyserythropoietic anemia, congenital, type Ib, (3) C19orf % 93% Neurodegeneration with brain iron accumulation 4, C1GALT1C % 99% Tn polyagglutination syndrome, somatic, C1QA % 98% C1q deficiency, C1QB % 86% C1q deficiency, C1QC % 80% C1q deficiency, C1QTNF % 91% Retinal degeneration, late-onset, autosomal dominant, C1S % 99% C1s deficiency, C % 46% C2 deficiency, {Macular degeneration, age-related, reduced risk of}, C21orf % 97% Ciliary dyskinesia, primary, 26, (3) C2orf % 96% Retinitis pigmentosa 54, C % 95% C3 deficiency, {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, {Macular degeneration, age-related, 9}, C4A 1.2 3% 2% C4a deficiency, [Blood group, Rodgers], ?Systemic lupus erythematosus, susceptibility to or protection against}, (2) C4B 1.4 4% 2% C4B deficiency, C4orf % 100% Amelogenesis imperfecta, hypomaturation type, IIA4, C % 99% C5 deficiency, C5orf % 99% Joubert syndrome 17, C % 99% C6 deficiency, Combined C6/C7 deficiency C % 93% C7 deficiency, C8A % 99% C8 deficiency, type I, C8B % 97% C8 deficiency, type II, C8orf % 100% Retinitis pigmentosa 64, Cone-rod dystrophy 16,

17 C % 100% C9 deficiency Macular degeneration, age-related, 15, susceptibility to C9orf % 100% Amyotrophic lateral sclerosis and/or frontotemporal dementia, CA % 100% Hyperchlorhidrosis, isolated, CA % 100% Osteopetrosis autosomal recessive 3 with renal tubular acidosis CA % 92% Retinitis pigmentosa 17, CA5A % 36% Hyperammonemia due to carbonic anhydrase VA deficiency, (3) CA % 100% Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, CABP % 72% Deafness, autosomal recessive 93, CABP % 100% Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, CACNA1A % 90% Migraine, familial hemiplegic, 1, Episodic ataxia, type 2, Spinocerebellar ataxia 6, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, CACNA1C % 95% Timothy syndrome, Brugada syndrome 3, CACNA1D % 98% Sinoatrial node dysfunction and deafness, CACNA1F % 85% Night blindness, congenital stationary (incomplete), 2A, X-linked, Cone-rod dystropy, X-linked, 3, Aland Island eye disease, CACNA1S % 99% Hypokalemic periodic paralysis, type 1, {Malignant hyperthermia susceptibility 5}, {Thyrotoxic periodic paralysis, susceptibility to, 1}, CACNA2D % 94% Retinal cone dystrophy 4, CACNB % 100% Brugada syndrome 4, CACNB % 93% {Epilepsy, juvenile myoclonic, susceptibility to, 6}, {Epilepsy, idiopathic generalized, susceptibility to, 9}, Episodic ataxia, type 5, CACNG % 100% Mental retardation, autosomal dominant 10, CALM % 100% Ventricular tachycardia, catecholaminergic polymorphic, 4, CALR % 90% distal to C3, near LDLR CALR % 99% Cardiomyopathy, familial hypertrophic, 19,

18 CAMTA % 97% Cerebellar ataxia, nonprogressive, with mental retardation, CANT % 97% Desbuquois dysplasia, CAPN % 97% Muscular dystrophy, limb-girdle, type 2A, CAPN % 95% Vitreoretinopathy, neovascular inflammatory, CARD % 98% Persistent polyclonal B-cell lymphocytosis, Immunodeficiency 11, CARD % 89% {Psoriasis susceptibility 2}, Pityriasis rubra pilaris, CARD % 97% Candidiasis, familial, 2, autosomal recessive, CASC % 98% Microcephaly 4, primary, autosomal recessive, CASK % 94% Mental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome 4, Mental retardation, with or without nystagmus, CASP % 100% Autoimmune lymphoproliferative syndrome, type II, Non-Hodgkin lymphoma, somatic, Gastric cancer, somatic, CASP % 98% Immunodeficiency due to CASP8 deficiency, Hepatocellular carcinoma, somatic, {Breast cancer, protection against}, {Lung cancer, protection against}, CASQ % 96% Ventricular tachycardia, catecholaminergic polymorphic, 2, CASR % 99% Hypocalciuric hypercalcemia, type I, Hyperparathyroidism, neonatal, Hypocalcemia, autosomal dominant, Hypocalcemia, autosomal dominant, with Bartter syndrome, {Epilepsy idiopathic generalized, susceptibility to, CAT % 91% Acatalasemia, CATSPER % 98% Spermatogenic failure 7, CAV % 100% Lipodystrophy, congenital generalized, type 3, Pulmonary hypertension, primary, 3, CAV % 100% Muscular dystrophy, limb-girdle, type IC, Rippling muscle disease, Creatine phosphokinase, elevated serum, Myopathy, distal, Tateyama type, Cardiomyopathy, familial hypertrophic,

19 Long QT syndrome-9, 6 CBL % 99% Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, CBS % 89% Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic, CBX % 99% 46XY sex reversal 5, CC2D1A % 97% Mental retardation, autosomal recessive 3, CC2D2A % 97% Joubert syndrome 9, Meckel syndrome 6, COACH syndrome, CCBE % 89% Hennekam lymphangiectasia-lymphedema syndrome, CCDC % 100% Ciliary dyskinesia, primary, 17, CCDC % 98% Ciliary dyskinesia, primary, 20, CCDC % 100% Ciliary dyskinesia, primary, 14, CCDC % 93% Ciliary dyskinesia, primary, 15, CCDC % 96% Deafness, autosomal dominant 44, CCDC % 96% Ciliary dyskinesia, primary, 27, CCDC % 100% Myopathy, centronuclear, 4, CCDC % 100% Three M syndrome 3, CCDC88C % 96% Hydrocephalus, nonsyndromic, autosomal recessive, CCM % 92% Cerebral cavernous malformations-2 CCT % 81% Neuropathy, hereditary sensory, with spastic paraplegia, CD % 96% Nephropathy with pretibial epidermolysis bullosa and deafness, [Blood group, Raph], CD % 98% Immunodeficiency, common variable, 3, CD % 100% Immunodeficiency due to defect in CD3-zeta, CD % 98% Lymphoproliferative syndrome 2 CD2AP % 99% Glomerulosclerosis, focal segmental, 3, CD % 88% Methylmalonic aciduria due to transcobalamin receptor defect,

20 CD % 100% [Macrothrombocytopenia] (1) Platelet glycoprotein IV deficiency, {Malaria, cerebral, susceptibility to}, {Malaria, cerebral, reduced risk of}, {Coronary heart disease, susceptibility to, 7}, CD3D % 99% Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, CD3E % 86% Immunodeficiency due to defect in CD3-epsilon Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, CD3G % 100% Immunodeficiency due to defect in CD3-gamma CD % 96% Methylmalonic aciduria and homocystinuria, cblj type, CD % 96% OKT4 epitope deficiency, CD % 91% Immunodeficiency with hyper-igm, type 3, CD40LG % 83% Immunodeficiency X-linked with hyper-igm CD % 100% Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, CD79A % 85% Agammaglobulinemia 3, CD79B % 99% Agammaglobulinemia 6, CD % 87% Immunodeficiency, common variable, 6, CD8A % 93% CD8 deficiency, familial, CD % 100% C syndrome, CDAN % 96% Anemia, congenital dyserythropoietic, type I, CDC % 99% Meier-Gorlin syndrome 5, CDC % 100% Hyperparathyroidism, familial primary, Hyperparathyroidism-jaw tumor syndrome, Parathyroid adenoma with cystic changes, Parathyroid carcinoma, CDH % 99% Endometrial carcinoma, somatic, Ovarian carcinoma, somatic, {Breast cancer, lobular}, Gastric cancer, familial diffuse, with or without cleft lip and/or palate, {Prostate cancer, susceptibility to}, CDH % 98% Mental retardation, autosomal dominant 3,

21 CDH % 98% Usher syndrome, type 1D, Deafness, autosomal recessive 12, Usher syndrome, type 1D/F digenic, CDH % 92% i Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy, CDHR % 98% Cone-rod dystrophy 15, Retinitis pigmentosa 65, CDK5RAP % 95% Microcephaly 3, primary, autosomal recessive, CDKL % 95% Epileptic encephalopathy, early infantile, 2, Angelman syndrome-like, CDKN1B % 100% Multiple endocrine neoplasia, type IV, CDKN1C % 82% Beckwith-Wiedemann syndrome, IMAGE syndrome, CDKN2A % 100% {Melanoma, cutaneous malignant, 2}, Melanoma and neural system tumor syndrome, Pancreatic cancer/melanoma syndrome, Orolaryngeal cancer, multiple, -3 CDON % 98% Holoprosencephaly 11, CDSN % 39% Hypotrichosis simplex of scalp 1, Peeling skin syndrome, CDT % 73% Meier-Gorlin syndrome 4, CEACAM % 90% Deafness, autosomal dominant 4B, CEBPA % 70% Leukemia, acute myeloid, CEBPE % 100% Specific granule deficiency, CECR % 97% Polyarteritis nodosa, (3) CEL % 61% Maturity-onset diabetes of the young, type VIII, CENPJ % 100% Microcephaly 6, primary, autosomal recessive, Seckel syndrome 4, CEP % 99% Microcephaly 8, primary, autosomal recessive, CEP % 99% Microcephaly 9, primary, autosomal recessive, Seckel syndrome 5, CEP % 92% Nephronophthisis 15, CEP % 100% Morbid obesity and spermatogenic failure, (3)

22 CEP % 98% Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10, Meckel syndrome 4, Bardet-Biedl syndrome 14, CEP % 99% Joubert syndrome 15, CEP % 97% Mosaic variegated aneuploidy syndrome 2, CERKL % 100% Retinitis pigmentosa 26, CERS % 100% Ichthyosis, congenital, autosomal recessive 9, CES % 57% Carboxylesterase 1 deficiency CETP % 100% Hyperalphalipoproteinemia, [High density lipoprotein cholesterol level QTL 10], CFAP % 98% Heterotaxy, visceral, 6, autosomal recessive, CFC1 1.0 % % Heterotaxy, visceral, 2, autosomal, Double-outlet right ventricle, Transposition of the great arteries, dextro-looped 2, CFD % 86% Complement factor D deficiency, CFH % 92% Basal laminar drusen CFHR % 92% Nephropathy due to CFHR5 deficiency, CFI % 100% Complement factor I deficiency, {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, {Macular degeneration, age-related, 13, susceptibility to}, CFL % 100% Nemaline myopathy 7, autosomal recessive, CFP % 85% Properdin deficiency X-linked CFTR % 95% Cystic fibrosis, Congenital bilateral absence of vas deferens, Sweat chloride elevation without CF {Pancreatitis, idiopathic}, {Hypertrypsinemia, neonatal} {Bronchiectasis with or without elevated sweat chloride 1, CHAT % 77% Myasthenic syndrome, congenital, associated with episodic apnea, CHD % 98% Epileptic encephalopathy, childhood-onset, CHD % 99% CHARGE syndrome, {Scoliosis, idiopathic 3}, Hypogonadotropic hypogonadism 5 with or without anosmia,

23 CHEK % 65% Li-Fraumeni syndrome, Osteosarcoma, somatic, {Breast cancer, susceptibility to}, {Prostate cancer, familial, susceptibility to}, {Breast and colorectal cancer, susceptibility to} CHKB % 91% Muscular dystrophy, congenital, megaconial type, CHM % 91% Choroideremia, CHMP1A % 89% Pontocerebellar hypoplasia, type 8, CHMP2B % 100% Dementia, familial, nonspecific, Amyotrophic lateral sclerosis 17, CHMP4B % 100% Cataract 31, multiple types, CHN % 96% Duane retraction syndrome 2, CHRDL % 94% Megalocornea 1, X-linked CHRM % 100% Eagle-Barrett syndrome, CHRNA % 98% Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, fast-channel congenital, Multiple pterygium syndrome, lethal type, CHRNA % 100% Epilepsy, nocturnal frontal lobe, type 4, CHRNA % 98% Epilepsy, nocturnal frontal lobe, 1, {Nicotine addiction, susceptibility to}, CHRNB % 94% Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, CHRNB % 93% Epilepsy, nocturnal frontal lobe, 3, CHRND % 91% Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, fast-channel congenital, Multiple pterygium syndrome, lethal type, CHRNE % 100% Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, fast-channel congenital, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, CHRNG % 97% Myasthenia gravis, neonatal transient (2) Escobar syndrome, Multiple pterygium syndrome, lethal type, CHST % 100% Ehlers-Danlos syndrome, musculocontractural type, CHST % 100% Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST % 100% Macular corneal dystrophy,

24 CHSY % 97% Temtamy preaxial brachydactyly syndrome, CHUK % 99% Cocoon syndrome, CIB % 100% Deafness, autosomal recessive 48, Usher syndrome, type IJ, CIITA % 96% Bare lymphocyte syndrome type II complementation group A CIRH1A % 100% Cirrhosis, North American Indian childhood type, CISD % 77% Wolfram syndrome 2, CITED % 97% Ventricular septal defect 2, Atrial septal defect 8, CLCF % 75% Cold-induced sweating syndrome 1, CLCN % 97% Myotonia congenita, recessive, Myotonia congenita, dominant, Myotonia levior, recessive CLCN % 99% {Epilepsy, juvenile myoclonic, susceptibility to, 8}, {Epilepsy, juvenile absence, susceptibility to, 2}, {Epilepsy, idiopathic generalized, susceptibility to, 11}, CLCN % 94% Dent disease, Nephrolithiasis, type I, Hypophosphatemic rickets, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, CLCN % 98% Osteopetrosis, autosomal recessive 4, Osteopetrosis, autosomal dominant 2, CLCNKA % 79% Bartter syndrome, type 4b, digenic, CLCNKB % 80% Bartter syndrome, type 3, Bartter syndrome, type 4b, digenic, CLDN % 100% Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, CLDN % 99% Deafness, autosomal recessive 29, CLDN % 95% Hypomagnesemia 3, renal, CLDN % 93% Hypomagnesemia 5, renal, with ocular involvement, CLEC7A % 100% Candidiasis, familial, 4, autosomal recessive, {Aspergillosis, susceptibility to}, CLIC % 63% Mental retardation, X-linked, syndromic 32, CLK % 99% 3MC syndrome 2 CLMP % 97% Congenital short bowel syndrome, CLN % 99% Ceroid lipofuscinosis, neuronal, 3,

25 CLN % 90% Ceroid lipofuscinosis, neuronal, 5, CLN % 81% Ceroid lipofuscinosis, neuronal, 6, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, CLN % 100% Ceroid lipofuscinosis, neuronal, 8, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, CLPP % 91% Perrault syndrome 3, CLRN % 100% Usher syndrome, type 3A, Retinitis pigmentosa 61, CNBP % 95% Myotonic dystrophy 2 CNGA % 90% Retinitis pigmentosa 49, CNGA % 99% Achromatopsia-2, CNGB % 90% Retinitis pigmentosa 45, CNGB % 98% Achromatopsia-3, Macular degeneration, juvenile, CNNM % 99% Hypomagnesemia 6, renal, CNNM % 96% Jalili syndrome, CNTN % 99% Myopathy, congenital, Compton-North, CNTNAP % 99% Cortical dysplasia-focal epilepsy syndrome, {Autism susceptibility 15}, Pitt-Hopkins like syndrome 1, COA % 96% Mitochondrial complex IV deficiency, COASY % 100% Neurodegeneration with brain iron accumulation 6, COCH % 98% Deafness, autosomal dominant 9, COG % 98% Congenital disorder of glycosylation, type IIg, COG % 95% Congenital disorder of glycosylation, type IIj, COG % 94% Congenital disorder of glycosylation, type IIi, COG % 95% Congenital disorder of glycosylation, type IIl, Shaheen syndrome, COG % 96% Congenital disorder of glycosylation, type IIe, COG % 100% Congenital disorder of glycosylation, type IIh, COL10A % 99% Metaphyseal chondrodysplasia, Schmid type, COL11A % 97% Stickler syndrome, type II, Marshall syndrome, {Lumbar disc herniation, susceptibility to}, Fibrochondrogenesis,

26 COL11A % 17% Stickler syndrome, type III, Otospondylomegaepiphyseal dysplasia, Weissenbacher-Zweymuller syndrome, Deafness, autosomal dominant 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2, COL17A % 89% Epidermolysis bullosa, junctional, non-herlitz type, COL18A % 90% Knobloch syndrome, type 1, COL1A % 97% Osteogenesis imperfecta, type I, OI type II, OI type III, OI type IV, Ehlers-Danlos syndrome, type I, Ehlers-Danlos syndrome, type VIIA, {Osteoporosis}, Caffey disease, COL1A % 96% Ehlers-Danlos syndrome, type VIIB, Osteogenesis imperfecta, type IV, Osteogenesis imperfecta, type III, Osteogenesis imperfecta, type II, {Osteoporosis, postmenopausal}, Ehlers-Danlos syndrome, cardi COL2A % 95% Stickler syndrome, type I, Kniest dysplasia, Achondrogenesis, type II or hypochondrogenesis, SED congenita, SMED Strudwick type, Epiphyseal dysplasia, multiple, with myopia and deafness, Sp COL3A % 95% Ehlers-Danlos syndrome, type IV, Ehlers-Danlos syndrome, type III, COL4A % 96% Porencephaly 1, Brain small vessel disease with hemorrhage, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, Brain small vessel disease with Axenfeld-Rieger anomaly, {Hemorrhage, intracerebral, s

27 COL4A % 97% Porencephaly 2, {Hemorrhage, intracerebral, susceptibility to}, COL4A % 94% Alport syndrome, autosomal recessive, Hematuria, benign familial, Alport syndrome, autosomal dominant, COL4A % 97% Alport syndrome, autosomal recessive, Hematuria,familial benign COL4A % 78% Alport syndrome, COL5A % 95% Ehlers-Danlos syndrome, type II, Ehlers-Danlos syndrome, type I, COL5A % 92% Ehlers-Danlos syndrome, type I, COL6A % 96% Bethlem myopathy, Ullrich congenital muscular dystrophy, {Ossification of the posterior longitudinal spinal ligaments}, (2) COL6A % 97% Bethlem myopathy, Ullrich congenital muscular dystrophy, Myosclerosis, congenital, COL6A % 99% Bethlem myopathy, Ullrich congenital muscular dystrophy, COL7A % 98% Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR, Epidermolysis bullosa, pretibial, EBD, Bart type, EBD, localisata variant Transient bullous of the newborn, Epidermoly COL8A % 94% Corneal dystrophy, Fuchs endothelial, 1, Corneal dystrophy polymorphous posterior, 2, COL9A % 96% Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type IV, COL9A % 93% Epiphyseal dysplasia, multiple, 2, {Intervertebral disc disease, susceptibility to}, Stickler syndrome, type V, COL9A % 89% Epiphyseal dysplasia, multiple, 3, Epiphyseal dysplasia, multiple, with myopathy {Intervertebral disc disease, susceptibility to}, COLQ % 90% Endplate acetylcholinesterase deficiency,

28 COMP % 98% Pseudoachondroplasia, Epiphyseal dysplasia, multiple 1, COQ % 96% Coenzyme Q10 deficiency, primary, 1, {Multiple system atrophy, susceptibility to}, COQ % 95% Coenzyme Q10 deficiency, primary, 6, COQ % 83% Coenzyme Q10 deficiency, primary, 5, CORIN % 99% Preeclampsia/eclampsia 5, CORO1A % 84% Immunodeficiency 8, COX % 97% Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency COX % 100% Mitochondrial complex IV deficiency, COX % 93% Leigh syndrome due to cytochrome c oxidase deficiency, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, COX % 88% Mitochondrial complex IV deficiency, COX4I % 89% Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, COX7B % 67% Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, CP % 92% [Hypoceruloplasminemia, hereditary], Cerebellar ataxia, Hemosiderosis, systemic, due to aceruloplasminemia, CPA % 100% Epilepsy, familial temporal lobe, 5, Febrile seizures, familial, 11, CPN % 99% Carboxypeptidase N deficiency, CPOX % 97% Coproporphyria, Harderoporphyria, CPS % 99% Carbamoylphosphate synthetase I deficiency, {Pulmonary hypertension, neonatal, susceptibility to}, {Venoocclusive disease after bone marrow transplantation} CPT1A % 98% CPT deficiency, hepatic, type IA, CPT % 91% Myopathy due to CPT II deficiency, CPT deficiency, hepatic, type II, CPT II deficiency, lethal neonatal, {Encephalopathy, acute, infection-induced, 4, susceptibility to}, CR % 100% {Systemic lupus erythematosus, susceptibility to, 9}, Immunodeficiency, common variable, 7,

29 CRADD % 98% Mental retardation, autosomal recessive 34, CRB % 100% Retinitis pigmentosa-12, autosomal recessive, Leber congenital amaurosis 8, Pigmented paravenous chorioretinal atrophy, CRBN % 100% Mental retardation, autosomal recessive 2, CREB % 100% Histiocytoma, angiomatoid fibrous, somatic, CREBBP % 97% Rubinstein-Taybi syndrome, CRELD % 93% {Atrioventricular septal defect, susceptibility to, 2}, Atrioventricular septal defect, partial, with heterotaxy syndrome, CRLF % 82% Cold-induced sweating syndrome, CRTAP % 100% Osteogenesis imperfecta, type VII, CRTC % 91% Mucoepidermoid salivary gland carcinoma CRX % 100% Cone-rod retinal dystrophy-2, Leber congenital amaurosis 7, CRYAA % 100% Cataract 9, multiple types, CRYAB % 100% Myopathy, myofibrillar, 2, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related, Cardiomyopathy, dilated, 1II, CRYBA % 100% Cataract 10, multiple types, CRYBA % 100% Cataract 23, CRYBB % 94% Cataract 17, multiple types, CRYBB % 100% Cataract 3, multiple types, CRYBB % 100% Cataract 22, autosomal recessive, CRYGB % 93% Cataract 39, multiple types, autosomal dominant, CRYGC % 96% Cataract 2, multiple types, CRYGD % 77% Cataract 4, multiple types, CRYGS % 90% Cataract 20, multiple types, CRYM % 99% Deafness, autosomal dominant 40 CSF1R % 95% Leukoencephalopathy, diffuse hereditary, with spheroids, CSF2RA.0 % % Surfactant metabolism dysfunction, pulmonary, 4, CSF2RB % 98% Surfactant metabolism dysfunction, pulmonary, 5, CSF3R % 98% Neutrophilia, hereditary, CSNK1D % 85% Advanced sleep-phase syndrome, familial, 2, CSPP % 99% Joubert syndrome 21,

30 CSRP % 95% Cardiomyopathy, dilated, 1M, Cardiomyopathy, familial hypertrophic, 12, CST % 99% Cerebral amyloid angiopathy, Macular degeneration, age-related, 11, CSTA % 100% Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, CSTB % 99% Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), CTC % 99% Cerebroretinal microangiopathy with calcifications and cysts, CTCF % 98% Mental retardation, autosomal dominant 21, CTDP % 87% Congenital cataracts, facial dysmorphism, and neuropathy, CTH % 100% Cystathioninuria, Homocysteine, total plasma, elevated -3 CTHRC % 92% Barrett esophagus/esophageal adenocarcinoma, CTNNA % 97% Arrhythmogenic right ventricular dysplasia, familial, 13, CTNNB % 99% Mental retardation, autosomal dominant 19, Colorectal cancer, somatic, Pilomatricoma, somatic, Ovarian cancer, somatic, Hepatocellular carcinoma, somatic, CTNS % 94%? Cystinosis, nephropathic, Cystinosis, ocular nonnephropathic, Cystinosis, late-onset juvenile or adolescent nephropathic, Cystinosis, atypical nephropathic, CTSA % 98% Galactosialidosis, CTSC % 100% Papillon-Lefevre syndrome, Haim-Munk syndrome, Periodontitis 1, juvenile, CTSD % 100% Ceroid lipofuscinosis, neuronal, 10, CTSF % 82% Ceroid lipofuscinosis, neuronal, 13, Kufs type, CTSK % 100% Pycnodysostosis, CUBN % 96% Megaloblastic anemia-1, Finnish type, CUL % 96% Pseudohypoaldosteronism, type IIE, CUL4B % 92% Mental retardation, X-linked, syndromic 15 (Cabezas type), CUL % 99% 3-M syndrome 1, CXCR % 100% WHIM syndrome, Myelokathexis, isolated CYB5A % 94% Methemoglobinemia, type IV,

31 CYB5R % 94% Methemoglobinemia, type I, Methemoglobinemia, type II, CYBA % 84% Chronic granulomatous disease, autosomal, due to deficiency of CYBA, CYBB % 81% Chronic granulomatous disease, X-linked, Atypical mycobacteriosis, familial, X-linked 2, CYC % 79% Mitochondrial complex III deficiency, nuclear type 6, CYCS % 92% Thrombocytopenia 4, CYLD % 100% Cylindromatosis, familial, Brooke-Spiegler syndrome, Trichoepithelioma, multiple familial, 1, CYP11A % 97% Adrenal insufficiency congenital with 46XY sex reversal partial or complete CYP11B % 94% anti-lepore-like Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Aldosteronism, glucocorticoid-remediable, CYP11B % 91% Hypoaldosteronism, congenital, due to CMO II deficiency, Hypoaldosteronism, congenital, due to CMO I deficiency, {Low renin hypertension, susceptibility to} Aldosterone to renin ratio raised CYP17A % 96% 17-alpha-hydroxylase/17,20-lyase deficiency, ,20-lyase deficiency, isolated, CYP19A % 100% Aromatase deficiency, Aromatase excess syndrome, CYP1B % 99% Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Peters anomaly, CYP21A % 10% Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, CYP24A % 97% Hypercalcemia, infantile, CYP26B % 97% Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, CYP26C % 91% Focal facial dermal dysplasia 4, CYP27A % 96% Cerebrotendinous xanthomatosis, CYP27B % 98% Vitamin D-dependent rickets, type I,

32 CYP2A % 42% Coumarin resistance, {Nicotine addiction, protection from}, {Lung cancer, resistance to}, CYP2B % 88% Efavirenz, poor metabolism of, {Efavirenz central nervous system toxicity, susceptibility to}, CYP2C % 96% Clopidogrel impaired responsiveness to CYP2C % 100% Rhabdomyolysis, cerivastatin-induced CYP2C % 97% Tolbutamide poor metabolizer Warfarin sensitivity, CYP2R % 96% Rickets due to defect in vitamin D 25-hydroxylation, CYP2U % 99% Spastic paraplegia 56, autosomal recessive, CYP4F % 100% Ichthyosis, congenital, autosomal recessive 5, CYP4V % 99% Bietti crystalline corneoretinal dystrophy, CYP7B % 96% Bile acid synthesis defect, congenital, 3, Spastic paraplegia 5A, autosomal recessive, D2HGDH % 86% D-2-hydroxyglutaric aciduria, DAG % 100% Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, DARS % 100% Hypomyelination with brainstem and spinal cord involvement and leg spasticity, DARS % 100% Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, DBH % 97% [Dopamine-beta-hydroxylase activity levels, plasma] Dopamine beta-hydroxylase deficiency, DBT % 100% Maple syrup urine disease, type II, DCAF % 94% Woodhouse-Sakati syndrome, DCC % 99% Mirror movements 1, Colorectal cancer, somatic, Esophageal carcinoma, somatic DCHS % 98% Van Maldergem syndrome 1, (3) DCLRE1C % 97% Severe combined immunodeficiency, Athabascan type, Omenn syndrome, DCN % 100% Corneal dystrophy, congenital stromal, DCTN % 95% Neuropathy, distal hereditary motor, type VIIB, {Amyotrophic lateral sclerosis, susceptibility to}, Perry syndrome, DCX % 94% Lissencephaly, X-linked, Subcortical laminal heteropia, X-linked,

33 DDB % 99% Xeroderma pigmentosum, group E, DDB-negative subtype, DDC % 98% Aromatic L-amino acid decarboxylase deficiency, DDHD % 97% Spastic paraplegia 28, autosomal recessive, DDHD % 100% Spastic paraplegia 54, autosomal recessive, DDOST % 98% Congenital disorder of glycosylation, type Ir, DDR % 100% Spondylometaepiphyseal dysplasia, short limb-hand type, DDX % 13% Warsaw breakage syndrome, DDX % 100% Orofaciodigital syndrome V, DEPDC % 99% Epilepsy, familial focal, with variable foci, DES % 88% Myopathy, myofibrillar, 1, Cardiomyopathy, dilated, 1I, Scapuloperoneal syndrome, neurogenic, Kaeser type, ?Muscular dystrophy, limb-girdle, type 2R, DFNA % 95% Deafness, autosomal dominant 5, DFNB % 98% Deafness autosomal recessive 31 DFNB % 100% Deafness autosomal recessive 59 DGKE % 99% Nephrotic syndrome, type 7, DGUOK % 100% Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DHCR % 97% Desmosterolosis, DHCR % 97% Smith-Lemli-Opitz syndrome, DHDDS % 90% Retinitis pigmentosa 59, DHFR % 58% Megaloblastic anemia due to dihydrofolate reductase deficiency, DHH % 100% 46XY partial gonadal dysgenesis, with minifascicular neuropathy, XY sex reversal 7, DHODH % 99% Miller syndrome, DHTKD % 98% 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease, axonal, type 2Q, DIABLO % 90% Deafness autosomal dominant 64 DIAPH % 91% Deafness, autosomal dominant 1, DIAPH % 93% Premature ovarian failure, DIAPH % 93% Auditory neuropathy, autosomal dominant, 1, DICER % 100% Pleuropulmonary blastoma, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, DIP2B % 97% Mental retardation, FRA12A type, DIS3L % 94% Perlman syndrome, DKC % 91% Dyskeratosis congenita, X-linked,

34 DLAT % 100% Pyruvate dehydrogenase E2 deficiency, DLC % 99% Colorectal cancer, somatic DLD % 100% Dihydrolipoamide dehydrogenase deficiency, DLG % 77% Mental retardation, X-linked 90, DLL % 81% Spondylocostal dysostosis, autosomal recessive, 1, DLX % 91% Trichodontoosseous syndrome, Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, DMD % 95% Duchenne muscular dystrophy, Becker muscular dystrophy, Cardiomyopathy, dilated, 3B, DMGDH % 96% Dimethylglycine dehydrogenase deficiency, DMP % 100% Hypophosphatemic rickets, AR, DMPK % 99% Myotonic dystrophy 1, DNA % 100% Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, DNAAF % 99% Ciliary dyskinesia primary 13 DNAAF % 100% Ciliary dyskinesia primary 10 DNAAF % 81% Ciliary dyskinesia, primary, 2, DNAH % 99% Ciliary dyskinesia, primary, 7, with or without situs inversus, DNAH % 98% Ciliary dyskinesia, primary, 3, with or without situs inversus, DNAI % 100% Ciliary dyskinesia, primary, 1, with or without situs inversus, DNAI % 93% Ciliary dyskinesia, primary, 9, with or without situs inversus, DNAJB % 96% Spinal muscular atrophy, distal, autosomal recessive, 5, DNAJB % 78% Muscular dystrophy, limb-girdle, type 1E, DNAJC % 78% 3-methylglutaconic aciduria, type V, DNAJC % 79% Ceroid lipofuscinosis, neuronal, 4, Parry type, DNAJC % 97% Parkinson disease 19, juvenile-onset, DNAL % 100% Ciliary dyskinesia, primary, 16, DNASE1L % 100% Systemic lupus erythematosus 16, DNM1L % 100% Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, DNM % 96% Charcot-Marie-Tooth disease, dominant intermediate B, Myopathy, centronuclear, Charcot-Marie-Tooth disease, axonal, type 2M, Lethal congenital contracture syndrome 5,

35 DNMT % 96% Neuropathy, hereditary sensory, type IE, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, DNMT3B % 99% Immunodeficiency-centromeric instability-facial anomalies syndrome 1, DOCK % 95% Adams-Oliver syndrome 2, DOCK % 98% Mental retardation, autosomal dominant 2, Hyper-IgE recurrent infection syndrome, autosomal recessive, DOK % 85% Myasthenia, limb-girdle, familial, Fetal akinesia deformation sequence, DOLK % 100% Congenital disorder of glycosylation type Im DPAGT % 95% Congenital disorder of glycosylation, type Ij, Myasthenic syndrome, congenital, with tubular aggregates 2, DPM % 100% Congenital disorder of glycosylation, type Ie, DPM % 88% Congenital disorder of glycosylation, type Iu, DPM % 100% Congenital disorder of glycosylation, type Io, DPP % 90% Ventricular fibrillation, paroxysmal familial, 2, DPY19L % 20% Spermatogenic failure 9, DPYD % 96% Dihydropyrimidine dehydrogenase deficiency, fluorouracil toxicity, DPYS % 98% Dihydropyrimidinuria, DRC % 97% Ciliary dyskinesia, primary, 21, DRD % 98% Dystonia, myoclonic, DRD % 67% Autonomic nervous system dysfunction [Novelty seeking personality], (1) {Attention deficit-hyperactivity disorder}, DRD % 47% {Blepharospasm, primary benign}, Dystonia, primary cervical {Attention deficit-hyperactivity disorder, susceptibility to}, DSC % 99% Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, DSC % 99% Hypotrichosis and recurrent skin vesicles, DSG % 100% pemphigus foliaceous antigen Keratosis palmoplantaris striata I, DSG % 98% Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, dilated, 1BB, DSG % 96% Hypotrichosis, localized, autosomal recessive,

36 DSP % 98% Keratosis palmoplantaris striata II, Dilated cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Skin fragility-woolly hair syndrome, Epidermolysis bullosa, lethal acan DSPP % 96% Dentinogenesis imperfecta, Shields type II, Deafness, autosomal dominant 36, with dentinogenesis, Dentinogenesis imperfecta, Shields type III, Dentin dysplasia, type II, DST % 99% Neuropathy, hereditary sensory and autonomic, type VI, Epidermolysis bullosa simplex, sutosomal recessive 2, DTNA % 97% Left ventricular noncompaction 1, with or without congenital heart defects, DTNBP % 100% {Schizophrenia}, (2) Hermansky-Pudlak syndrome 7, DUOX % 92% Thryoid dyshormonogenesis 6, DUOXA % 99% Thyroid dyshormonogenesis 5, DUSP % 100% Hypogonadotropic hypogonadism 19 with or without anosmia, DYM % 99% Dyggve-Melchior-Clausen disease, Smith-McCort dysplasia, DYNC1H % 96% Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant, AD, DYNC2H % 99% Asphyxiating thoracic dystrophy 3, Short rib-polydactyly syndrome, type III, Short rib-polydactyly syndrome, type IIB, DYRK1A % 99% Mental retardation, autosomal dominant 7, DYSF % 99% Muscular dystrophy, limb-girdle, type 2B, Myopathy, distal, with anterior tibial onset, Miyoshi muscular dystrophy 1, DYX1C % 100% {Dyslexia, susceptibility to, 1}, EARS % 91% Combined oxidative phosphorylation deficiency 12, EBP % 73% Chondrodysplasia punctata, X-linked dominant, ECE % 97% Hirschsprung disease, cardiac defects, and autonomic dysfunction, {Hypertension, essential, susceptibility to}, ECEL % 79% Arthrogryposis, distal, type 5D,

37 ECM % 99% Urbach-Wiethe disease, EDA % 86% Ectodermal dysplasia 1 hypohidrotic X-linked EDAR % 99% Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, [Hair morphology 1, hair thickness], EDARADD % 95% Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, EDN % 100% [High density lipoprotein cholesterol level QTL 7] EDN % 100% Waardenburg syndrome, type 4B, Central hypoventilation syndrome, congenital, {Hirschsprung disease, susceptibility to, 4}, EDNRA % 100% Migraine, resistance to, EDNRB % 99% {Hirschsprung disease, susceptibility to, 2}, ABCD syndrome, Waardenburg syndrome, type 4A, EFEMP % 94% Doyne honeycomb degeneration of retina, EFEMP % 100% Cutis laxa, autosomal recessive, type IB, EFNB % 96%? Craniofrontonasal dysplasia, EFTUD % 97% Mandibulofacial dysostosis, Guion-Almeida type, EGF % 98% Hypomagnesemia 4, renal, EGFR % 100% Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, {Nonsmall cell lung cancer, susceptibility to}, EGLN % 74% Erythrocytosis, familial, 3, EGR % 98% Neuropathy, congenital hypomyelinating, 1, Charcot-Marie-Tooth disease, type 1D, Dejerine-Sottas disease, EHMT % 95% Kleefstra syndrome, EIF2AK % 92% Wolcott-Rallison syndrome, EIF2AK % 98% Pulmonary venoocclusive disease 2, (3) EIF2B % 93% Leukoencephalopathy with vanishing white matter, EIF2B % 98% Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy,

38 EIF2B % 99% Leukoencephalopathy with vanishing white matter, EIF2B % 100% Leukoencephaly with vanishing white matter, Ovarioleukodystrophy, EIF2B % 99% Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, EIF4A % 98% Robin sequence with cleft mandible and limb anomalies, (3) EIF4G % 99% Parkinson disease 18, ELAC % 100% {Prostate cancer, hereditary, 2, susceptibility to}, Combined oxidative phosphorylation deficiency 17, ELANE % 80% Neutropenia, cyclic, Neutropenia, severe congenital 1, autosomal dominant, ELN % 96% Supravalvar aortic stenosis, Cutis laxa, AD, ELOVL % 100% Stargardt disease 3, Macular dystrophy, autosomal dominant, chromosome 6-linked, Ichthyosis, spastic quadriplegia, and mental retardation, EMD % 95% Emery-Dreifuss muscular dystrophy 1, X-linked, EMG % 100% Bowen-Conradi syndrome, EMX % 100% Schizencephaly, ENAM % 100% Amelogenesis imperfecta, type IB, Amelogenesis imperfecta, type IC, ENG % 94% Telangiectasia, hereditary hemorrhagic, type 1, ENO % 96% Glycogen storage disease XIII, ENPP % 93% Ossification of posterior longitudinal ligament of spine, {Diabetes mellitus, non-insulin-dependent, susceptibility to}, {Obesity, susceptibility to}, Arterial calcification, generalized, of infancy, 1, Hypophos ENTPD % 99% Spastic paraplegia 64, EOGT % 99% Adams-Oliver syndrome 4, EP % 98% Rubinstein-Taybi syndrome 2, Colorectal cancer, somatic, EPAS % 92% Erythrocytosis, familial, 4, EPB % 100% Elliptocytosis-1, EPB % 95% Spherocytosis, hereditary, type 5, EPCAM % 99% Diarrhea 5, with tufting enteropathy, congenital,

39 Colorectal cancer, hereditary nonpolyposis, type 8, EPG % 99% Vici syndrome, EPHA % 94% Cataract 6, multiple types, EPHB % 97% Prostate cancer, progression and metastasis of, EPHX % 91%?Fetal hydantoin syndrome (1) Diphenylhydantoin toxicity (1) Hypercholanemia, familial, {Preeclampsia, susceptibility to}, EPM2A % 73% Epilepsy, progressive myoclonic 2A (Lafora), EPX % 97% Eosinophil peroxidase deficiency, ERBB % 98% Adenocarcinoma of lung, somatic, Glioblastoma, somatic, Gastric cancer, somatic, Ovarian cancer, somatic, ERBB % 99% Lethal congenital contractural syndrome 2, ERBB % 100% Amyotrophic lateral sclerosis 19, ERCC % 96% Cerebrooculofacioskeletal syndrome 4, ERCC % 96% Xeroderma pigmentosum, group D, Trichothiodystrophy, Cerebrooculofacioskeletal syndrome 2, ERCC % 100% Xeroderma pigmentosum, group B, Trichothiodystrophy, ERCC % 94% Xeroderma pigmentosum, group F, XFE progeroid syndrome, Fanconi anemia, complementation group Q, Xeroderma pigmentosum, type F/Cockayne syndrome, ERCC % 97% Xeroderma pigmentosum, group G, Xeroderma pigmentosum, group G/Cockayne syndrome, ERCC % 98% Cockayne syndrome, type B, Cerebrooculofacioskeletal syndrome 1, De Sanctis-Cacchione syndrome, {Macular degeneration, age-related, susceptibility to 5}, UV-sensitive syndrome 1, {Lung cancer, suscept ERCC6L % 100% Bone marrow failure syndrome 2, (3)

40 ERCC % 100% Cockayne syndrome, type A, UV-sensitive syndrome 2, ERF % 100% Craniosynostosis 4, ERLIN % 98% Spastic paraplegia 18, autosomal recessive, ESCO % 99% Roberts syndrome, SC phocomelia syndrome, ESPN % 52% Deafness, autosomal recessive 36, Deafness, neurosensory, without vestibular involvement, autosomal dominant ESR % 100% Estrogen resistance, {HDL response to hormone replacement, augmented} {Migraine, susceptibility to}, {Atherosclerosis, susceptibility to} {Myocardial infarction, susceptibility to}, {Breast cancer}, (1) ESRRB % 75% Deafness, autosomal recessive 35, ETFA % 100% Glutaric acidemia IIA, ETFB % 99% Glutaric acidemia IIB, ETFDH % 100% Glutaric acidemia IIC, ETHE % 96% Ethylmalonic encephalopathy, ETV % 98% Leukemia, acute myeloid, somatic, EVC % 88% Ellis-van Creveld syndrome, Weyers acrodental dysostosis, EVC % 92% Ellis-van Creveld syndrome EWSR % 73% Ewing sarcoma, Neuroepithelioma, EXOSC % 80% Pontocerebellar hypoplasia, type 1B, EXPH % 100% Epidermolysis bullosa, nonspecific, autosomal recessive, EXT % 95% Exostoses, multiple, type 1, Chondrosarcoma, EXT % 96% Exostoses, multiple, type 2, EYA % 99% Branchiootorenal syndrome 1, with or without cataracts, Anterior segment anomalies with or without cataract, Branchiootic syndrome 1, Otofaciocervical syndrome, EYA % 100% Deafness, autosomal dominant 10, Cardiomyopathy, dilated, 1J,

41 EYS % 99% Retinitis pigmentosa 25, EZH % 93% Weaver syndrome, F % 100% Factor X deficiency, F % 91% Factor XI deficiency, autosomal recessive, Factor XI deficiency, autosomal dominant, F % 96% Factor XII deficiency, Angioedema, hereditary, type III, F13A % 97% Factor XIIIA deficiency, {Myocardial infarction, protection against}, {Venous thrombosis, protection against}, F13B % 98% Factor XIIIB deficiency, F % 91% Hypoprothrombinemia, Dysprothrombinemia, Thrombophilia due to thrombin defect, {Stroke, ischemic, susceptibility to}, {Pregnancy loss, recurrent, susceptibility to, 2}, F % 99% Factor V deficiency, {Thrombophilia, susceptibility to, due to factor V Leiden}, {Stroke, ischemic, susceptibility to}, {Budd-Chiari syndrome}, Thrombophilia due to activated protein C resistance, {Pr F % 100% Factor VII deficiency, {Myocardial infarction, decreased susceptibility to}, F % 95% Hemophilia A, F % 100% Hemophilia B, {Warfarin sensitivity}, Thrombophilia, X-linked, due to factor IX defect, {Deep venous thrombosis, protection against}, FA2H % 94% Spastic paraplegia 35 autosomal recessive FADD % 100% Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, FAH % 98% Tyrosinemia, type I, FAM111A % 100% Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, FAM111B % 99% Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, (3)

42 FAM126A % 100% Leukodystrophy, hypomyelinating, 5, FAM134B % 99% Neuropathy, hereditary sensory and autonomic, type IIB, FAM161A % 100% Retinitis pigmentosa 28, FAM20A % 94% Amelogenesis imperfecta and gingival fibromatosis syndrome, FAM20C % 84% Raine syndrome, FAM58A % 45% STAR syndrome, FAM83H % 99% Amelogenesis imperfecta, type 3, FAN % 99% Interstitial nephritis, karyomegalic, FANCA % 96% Fanconi anemia, complementation group A, FANCB % 88% Fanconi anemia complementation group B FANCC % 96% Fanconi anemia, complementation group C, FANCD % 85% Fanconi anemia, complementation group D2, FANCE % 87% Fanconi anemia, complementation group E, FANCF % 100% Fanconi anemia, complementation group F, FANCG % 96% Fanconi anemia complementation group G FANCI % 99% Fanconi anemia, complementation group I, FANCL % 99% Fanconi anemia complementation group L FANCM % 99% Fanconi anemia, complementation group M, FARS % 94% Combined oxidative phosphorylation deficiency 14, FAS % 100% Autoimmune lymphoproliferative syndrome type IA FASLG % 92% Autoimmune lymphoproliferative syndrome type IB FAT % 100% Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, FBLN % 95% Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, FBLN % 99% Cutis laxa, autosomal recessive, type IA, Cutis laxa, autosomal dominant 2, Macular degeneration, age-related, 3, FBN % 99% Marfan syndrome, Ectopia lentis, familial, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Aortic aneurysm, ascending, and dissection Stiff skin syndrome, Acromicric dysplasia, Ge

43 FBN % 98% Contractural arachnodactyly, congenital, FBP % 96% Fructose-1,6-bidphosphatase deficiency, FBXL % 100% Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), FBXO % 96% Neuronopathy, distal hereditary motor, type IID, FBXO % 100% Parkinson disease 15, autosomal recessive, FCGR3A % 49% {Viral infections, recurrent} FCGR3B % 53% Neutropenia, alloimmune neonatal FCN % 95% Immunodeficiency due to ficolin 3 deficiency, FECH % 98% Protoporphyria, erythropoietic, autosomal recessive, FERMT % 97% Kindler syndrome FERMT % 97% Leukocyte adhesion deficiency type III FGA % 99% Dysfibrinogenemia, alpha type, causing bleeding diathesis Dysfibrinogenemia, alpha type, causing recurrent thrombosis Amyloidosis, hereditary renal, Afibrinogenemia, congenital, FGB % 97% Dysfibrinogenemia, beta type Afibrinogenemia, congenital, Thrombophilia, dysfibrinogenemic FGD % 88% Aarskog-Scott syndrome, Mental retardation, X-linked syndromic 16, FGD % 100% Charcot-Marie-Tooth disease, type 4H, FGF % 100% Aplasia of lacrimal and salivary glands, LADD syndrome, FGF % 100% Spinocerebellar ataxia 27, FGF % 98% Metacarpal 4-5 fusion, FGF % 100% Hypogonadotropic hypogonadism 20 with or without anosmia, FGF % 92% Hypophosphatemic rickets, autosomal dominant, Osteomalacia, tumor-induced (1) Tumoral calcinosis, hyperphosphatemic, familial, FGF % 93% Deafness, congenital with inner ear agenesis, microtia, and microdontia, FGF % 61% Hypogonadotropic hypogonadism 6 with or without anosmia, FGF % 100% Multiple synostoses syndrome 3,

44 FGFR % 100% Pfeiffer syndrome, Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Trigonocephaly 1, Hartsfield syndrome, FGFR % 98% Crouzon syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Apert syndrome, Saethre-Chotzen syndrome, Craniosynostosis, nonspecific Gastric cance FGFR % 91% Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, type I, Crouzon syndrome with acanthosis nigricans, Muenke syndrome, Bladder cancer, somatic, Colorectal cancer, somatic, FGG % 97% Dysfibrinogenemia, gamma type Hypofibrinogenemia, gamma type Thrombophilia, dysfibrinogenemic FH % 89% Fumarase deficiency, Leiomyomatosis and renal cell cancer, FHL % 81% Hemophagocytic lymphohistiocytosis, familial, 1 (2) FIG % 99% Charcot-Marie-Tooth disease, type 4J, Amyotrophic lateral sclerosis 11, Yunis-Varon syndrome, FIGLA % 91% Premature ovarian failure 6, FKBP % 99% Osteogenesis imperfecta, type XI, FKBP % 100% Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,

45 FKRP % 98% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Muscular dystrophy-dystroglycanopathy (limb FKTN % 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Cardiomyopathy, dilated, 1X, Muscular dy FLCN % 98% Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous, Renal carcinoma, chromophobe, somatic, Colorectal cancer, somatic, FLG % 82% Ichthyosis vulgaris, {Dermatitis, atopic, susceptibility to, 2}, FLNA % 90% Heterotopia, periventricular, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Intestinal pseudoobstruction, neuronal, Melnick-Needles syndrome, Frontometaphyseal dysplasia, 3056 FLNB % 98% Spondylocarpotarsal synostosis syndrome, Larsen syndrome, Atelosteogenesis, type I, Atelosteogenesis, type III, Boomerang dysplasia, FLNC % 94% Myopathy, myofibrillar, 5, Myopathy, distal, 4, FLRT % 100% Hypogonadotropic hypogonadism 21 with anosmia, FLT % 96% Leukemia, acute myeloid, reduced survival in Leukemia, acute myeloid, Leukemia, acute lymphoblastic FLT % 99% Lymphedema, hereditary I, Hemangioma, capillary infantile, somatic, FLVCR % 100% Ataxia, posterior column, with retinitis pigmentosa,

46 FLVCR % 100% Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, FMO % 100% Trimethylaminuria, FMR % 95% Fragile X syndrome, Fragile X tremor/ataxia syndrome, Premature ovarian failure 1, FN % 96% Glomerulopathy with fibronectin deposits 2, Plasma fibronectin deficiency, (1) FOLR % 97% Neurodegeneration due to cerebral folate transport deficiency, FOXC % 92% Iridogoniodysgenesis, type 1, Rieger or Axenfeld anomalies, Axenfeld-Rieger syndrome, type 3, Iris hypoplasia and glaucoma, FOXC % 90% Lymphedema-distichiasis syndrome, Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, FOXE % 100% Bamforth-Lazarus syndrome FOXE % 38% Anterior segment mesenchymal dysgenesis, Aphakia, congenital primary, FOXF % 100% Alveolar capillary dysplasia with misalignment of pulmonary veins, FOXG % 80% Rett syndrome, congenital variant, FOXI % 100% Enlarged vestibular aqueduct, FOXL % 100% Blepharophimosis, epicanthus inversus, and ptosis, type 1, Blepharophimosis, epicanthus inversus, and ptosis, type 2, Premature ovarian failure 3, FOXN % 99% T-cell immunodeficiency, congenital alopecia, and nail dystrophy, FOXO % 88% Rhabdomyosarcoma alveolar FOXP % 97% Mental retardation with language impairment and autistic features, FOXP % 100% Speech-language disorder-1, FOXP % 69% Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, {Diabetes mellitus, type I, susceptibility to}, FOXRED % 97% Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial complex I deficiency, FRAS % 95% Fraser syndrome,

47 FREM % 98% Bifid nose with or without anorectal and renal anomalies, Manitoba oculotrichoanal syndrome, Trigonocephaly 2, FREM % 99% Fraser syndrome, FRMD % 95% Nystagmus 1, congenital, X-linked, Nystagmus, infantile periodic alternating, X-linked, FSCN % 100% Retinitis pigmentosa 30, FSHB % 100% Follicle-stimulating hormone deficiency, isolated, FSHR % 99% Ovarian dysgenesis 1, Ovarian response to FSH stimulation, Ovarian hyperstimulation syndrome, FTCD % 81% Glutamate formiminotransferase deficiency, FTL % 95% Hyperferritinemia-cataract syndrome, Neurodegeneration with brain iron accumulation 3, FTO % 97% Growth retardation, developmental delay, coarse facies, and early death, FTSJ % 77% Mental retardation, X-linked 9, FUCA % 96% Fucosidosis, FUS % 95% Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, Tremor, hereditary essential, 4, FUT % 73% Fucosyltransferase 6 deficiency, FUZ % 100% Neural tube defects, FXN % 87% Friedreich ataxia, Friedreich ataxia with retained reflexes, FXYD % 80% Hypomagnesemia-2, renal, FYCO % 98% Cataract 18, autosomal recessive, FZD % 100% Exudative vitreoretinopathy, Retinopathy of prematurity, FZD % 100% Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), G6PC % 100% Glycogen storage disease Ia, G6PC % 100% Neutropenia, severe congenital 4, autosomal recessive, Dursun syndrome, G6PD % 92% Hemolytic anemia due to G6PD deficiency Favism, {Resistance to malaria due to G6PD deficiency}, GAA % 98% Glycogen storage disease II,

48 GABRA % 96% {Epilepsy, juvenile myoclonic, susceptibility to, 5}, {Epilepsy, childhood absence, susceptibility to, 4}, GABRB % 97% Insomnia {Epilepsy, childhood absence, susceptibility to, 5}, GABRG % 94% Epilepsy, generalized, with febrile seizures plus, type 3, {Epilepsy, childhood absence, susceptibility to, 2}, Febrile seizures, familial, 8, GAD % 98% Cerebral palsy, spastic quadriplegic, 1, GALC % 96% Krabbe disease, GALE % 100% Galactose epimerase deficiency, GALK % 100% Galactokinase deficiency with cataracts, GALNS % 92% Mucopolysaccharidosis IVA, GALNT % 100% Tumoral calcinosis, hyperphosphatemic, familial, GALT % 100% Galactosemia, GAMT % 92% Cerebral creatine deficiency syndrome 2, GAN % 99% Giant axonal neuropathy-1, GARS % 100% Charcot-Marie-Tooth disease type 2D GATA % 87% Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Leukemia, megakaryoblastic, with or without Down syndrome, somatic, Thrombocytopenia with beta-thalassemia, X-linked, Anemia, X-linked, with/without neu GATA % 93% Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, Emberger syndrome, {Myelodysplastic syndrome, susceptibility to}, {Leukemia, acute myeloid, susceptibility to}, GATA % 98% Hypoparathyroidism, sensorineural deafness, and renal dysplasia, GATA % 64% Atrial septal defect 2, Ventricular septal defect 1, Atrioventricular septal defect 4, GATA % 71% Atrioventricular septal defect 5, Atrial septal defect 9, Pancreatic agenesis and congenital heart defects, Persistent truncus arteriosus, Tetralogy of Fallot,

49 GATAD % 89% Cardiomyopathy, dilated, 2B, GATAD2B % 98% Mental retardation, autosomal dominant 18, GATM % 94% Cerebral creatine deficiency syndrome 3, GBA % 58% Gaucher disease, type I, Gaucher disease, type II, Gaucher disease, type III, Gaucher disease, type IIIC, Gaucher disease, perinatal lethal, {Parkinson disease, late-onset, susceptibility to}, GBA % 100% Spastic paraplegia 46, autosomal recessive, GBE % 94% Glycogen storage disease IV, Polyglucosan body disease, adult form, GCDH % 91% Glutaricaciduria, type I, GCH % 100% Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, Hyperphenylalaninemia, BH4-deficient, B, GCK % 97% MODY, type II, Diabetes mellitus, noninsulin-dependent, late onset, Diabetes mellitus, gestational, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal, GCLC % 100% Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, {Myocardial infarction, susceptibility to}, GCM % 100% Hypoparathyroidism familial isolated GCNT % 100% [Blood group, Ii], Cataract 13 with adult i phenotype, Adult i phenotype without cataract, GCSH % 39% Glycine encephalopathy, GDAP % 100% Charcot-Marie-Tooth disease, type 4A, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, Charcot-Marie-Tooth disease, axonal, type 2K, Charcot-Marie-Tooth disease, recessive intermediate, A, GDF % 71% Double-outlet right ventricle, Tetralogy of Fallot, Transposition of great arteries, dextro-looped 3, Right atrial isomerism,

50 GDF % 100% Telangiectasia, hereditary hemorraghic, type 5, GDF % 100% Klippel-Feil syndrome 3, autosomal dominant, Microphthalmia with coloboma 6, Microphthalmia, isolated 7, GDF % 100% Acromesomelic dysplasia, Hunter-Thompson type, Brachydactyly, type C, Chondrodysplasia, Grebe type, Du Pan syndrome, Brachydactyly, type A2, Symphalangism, proximal, 1B, Multiple synostoses GDF % 100% Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia, isolated 4, Microphthalmia with coloboma 6, digenic, Leber congenital amaurosis 17, GDI % 96% Mental retardation, X-linked 41, GDNF % 99% Central hypoventilation syndrome, {Pheochromocytoma, modifier of}, {Hirschsprung disease, susceptibility to, 3}, GFAP % 98% Alexander disease, GFER % 94% Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, GFI % 93% Neutropenia, severe congenital 2, autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adults, GFI1B % 100% Bleeding disorder, platelet-type,17, GFM % 100% Combined oxidative phosphorylation deficiency 1, GFPT % 96% Myasthenia, congenital, with tubular aggregates 1, GGCX % 99% Vitamin K-dependent coagulation defect, Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, GH % 67% Growth hormone deficiency, isolated, type IA, Growth hormone deficiency, isolated, type IB, Growth hormone deficiency, isolated, type II, Kowarski syndrome,

51 GHR % 99% Laron dwarfism, Short stature, {Hypercholesterolemia, familial, modification of}, Increased responsiveness to growth hormone GHRHR % 98% Growth hormone deficiency, isolated, type IB, GHSR % 100% Short stature, GIF % 100% Intrinsic factor deficiency, GIGYF % 97% Parkinson disease 11, GIPC % 92% Deafness, autosomal recessive 15, GJA % 79% Oculodentodigital dysplasia, Syndactyly, type III, Hypoplastic left heart syndrome 1, Atrioventricular septal defect 3, Oculodentodigital dysplasia, autosomal recessive, Craniometaphyseal dysplasia, a GJA % 99% Cataract 14, multiple types, GJA % 100% Atrial fibrillation, familial, 11, Atrial standstill, digenic, GJA % 99% Cataract 1, multiple types, GJB % 100% Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, GJB % 100% Deafness, autosomal recessive 1A, Deafness, autosomal dominant 3A, Vohwinkel syndrome, Keratoderma, palmoplantar, with deafness, Keratitis-ichthyosis-deafness syndrome, Hystrix-like ichthyosis with de GJB % 100% Erythrokeratodermia variabilis et progressiva, Deafness, autosomal dominant 2B, Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness, digenic, GJB2/GJB3, GJB % 100% Erythrokeratodermia variabilis with erythema gyratum repens, GJB % 100% Deafness, autosomal dominant 3B, Deafness, autosomal recessive 1B, Deafness, digenic GJB2/GJB6, Ectodermal dysplasia 2, Clouston type,

52 GJC % 83% Leukodystrophy, hypomyelinating, 2, Spastic paraplegia 44, autosomal recessive, Lymphedema, hereditary, IC, GK % 56% Glycerol kinase deficiency, GLA % 86% Fabry disease, Fabry disease, cardiac variant, GLB % 94% GM1-gangliosidosis, type I, GM1-gangliosidosis, type II, GM1-gangliosidosis, type III, Mucopolysaccharidosis type IVB (Morquio), GLDC % 85% Glycine encephalopathy, GLE % 94% Lethal congenital contracture syndrome 1, Arthrogryposis, lethal, with anterior horn cell disease, GLI % 97% Holoprosencephaly-9, GLI % 99% Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Polydactyly, preaxial, type IV, Polydactyly, postaxial, types A1 and B, {Hypothalamic hamartomas, somatic}, GLIS % 98% Nephronophthisis 7, GLIS % 98% Diabetes mellitus, neonatal, with congenital hypothyroidism, GLMN % 100% Glomuvenous malformations GLRA % 98% Hyperekplexia, hereditary 1, autosomal dominant or recessive, GLRB % 99% Hyperekplexia 2, autosomal recessive, GLRX % 46% Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, GLUD % 88% Hyperinsulinism-hyperammonemia syndrome, GLUL % 49% Glutamine deficiency, congenital, GLYCTK % 98% D-glyceric aciduria, GM2A % 100% GM2-gangliosidosis, AB variant, GMPPA % 99% Alacrima, achalasia, and mental retardation syndrome, (3) GMPPB % 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), GMPS % 100% Leukemia, acute myelogenous,

53 GNA % 99% Hypocalciuric hypercalcemia, type II, Hypocalcemia, autosomal dominant 2, GNAI % 99% GNAI2L Pituitary ACTH-secreting adenoma Ventricular tachycardia, idiopathic, GNAI % 100% Auriculocondylar syndrome 1, GNAL % 97% Dystonia 25, GNAO % 99% Epileptic encephalopathy, early infantile, 17, GNAQ % 93% Sturge-Weber syndrome, somatic, mosaic, Capillary malformations, congenital, 1, somatic, mosaic, GNAS % 99% Pseudohypoparathyroidism Ia, McCune-Albright syndrome, Pseudohypoparathyroidism Ic, Osseous heteroplasia, progressive, Pseudohypoparathyroidism Ib, Prolonged bleeding time, brachydactyly and mental re GNAT % 95% Night blindness, congenital stationary, autosomal dominant 3, GNAT % 100% Achromatopsia-4, GNB % 100% Charcot-Marie-Tooth disease, dominant intermediate F, GNE % 99% Sialuria, Inclusion body myopathy, autosomal recessive, Nonaka myopathy, GNMT % 99% Glycine N-methyltransferase deficiency, GNPAT % 100% Chondrodysplasia punctata, rhizomelic, type 2, GNPTAB % 100% Mucolipidosis III alpha/beta, Mucolipidosis II alpha/beta, GNPTG % 80% Mucolipidosis III gamma GNRH % 91% Hypogonadotropic hypogonadism 12 with or without anosmia, GNRHR % 100% Hypogonadotropic hypogonadism 7 with or without anosmia, Fertile eunuch syndrome, GNS % 85% Mucopolysaccharidosis type IIID, GOLGA % 100% Thyroid carcinoma, papillary, GORAB % 98% Geroderma osteodysplasticum, GOSR % 100% Epilepsy, progressive myoclonic 6, GOT % 100% Aspartate aminotransferase, serum level of, QTL1,

54 GP1BA % 95% Bernard-Soulier syndrome, type A1 (recessive), {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, Bernard-Soulier syndrome, type A2 (dominant), von Willebrand disease, platelet-type, GP1BB % 61% Bernard-Soulier syndrome, type B, Giant platelet disorder, isolated, GP % 97% Bleeding disorder, platelet-type, 11, GP % 89% Bernard-Soulier syndrome, type C, GPC % 97% Simpson-Golabi-Behmel syndrome, type 1, Wilms tumor, somatic, GPC % 100% Omodysplasia 1, GPD % 99% Hypertriglyceridemia, transient infantile, GPD1L % 100% Brugada syndrome 2, GPHN % 100% Molybdenum cofactor deficiency, type C, GPI % 97% Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, GPR % 62% Ocular albinism, type I, Nettleship-Falls type, Nystagmus 6, congenital, X-linked, GPR % 99% Night blindness, congenital stationary (complete), 1E, autosomal recessive, GPR % 99% Polymicrogyria, bilateral frontoparietal, GPR % 98% Febrile seizures, familial, 4, Usher syndrome, type 2C, Usher syndrome, type 2C, GPR98/PDZD7 digenic, GPSM % 100% Chudley-McCullough syndrome, GRHL % 98% Deafness, autosomal dominant 28, GRHL % 98% Van der Woude syndrome 2, (3) GRHPR % 78% Hyperoxaluria, primary, type II, GRIA % 84% Mental retardation, X-linked 94, GRIK % 99% Mental retardation, autosomal recessive, 6, GRIN % 93% Mental retardation, autosomal dominant 8, GRIN2A % 98% Epilepsy with neurodevelopmental defects, GRIN2B % 98% Mental retardation, autosomal dominant 6, GRIP % 95% Fraser syndrome, GRK % 99% Oguchi disease-2, GRM % 99% Spinocerebellar ataxia, autosomal recessive 13,

55 GRM % 92% Night blindness, congenital stationary (complete), 1B, autosomal recessive, GRN % 99% Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Aphasia, primary progressive, Ceroid lipofuscinosis, neuronal, 11, GRXCR % 100% Deafness, autosomal recessive 25, GSC % 81% Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, GSN % 85% Amyloidosis, Finnish type, GSS % 94% Hemolytic anemia due to glutathione synthetase deficiency, Glutathione synthetase deficiency, GTF2H % 100% Trichothiodystrophy, complementation group A, GUCA1A % 52% Cone dystrophy-3, Cone-rod dystrophy 14, GUCA1B % 100% Retinitis pigmentosa 48, GUCY1A % 100% Moyamoya 6 with achalasia, GUCY2C % 99% Diarrhea 6, Meconium ileus, GUCY2D % 96% Leber congenital amaurosis 1, Cone-rod dystrophy 6, GUSB % 81% Mucopolysaccharidosis VII, GYG % 60% Glycogen storage disease XV, GYS % 82% Glycogen storage disease 0, muscle, GYS % 100% Glycogen storage disease, type 0, H6PD % 100% Cortisone reductase deficiency 1, HADH % 100% 3-hydroxyacyl-CoA dehydrogenase deficiency HADHA % 87% LCHAD deficiency, Trifunctional protein deficiency, HELLP syndrome, maternal, of pregnancy, Fatty liver, acute, of pregnancy, HADHB % 99% Trifunctional protein deficiency, HAMP % 99% Hemochromatosis, type 2B, HARS % 100% Usher syndrome type 3B, HARS % 100% Perrault syndrome 2, HAX % 100% Neutropenia, severe congenital 3, autosomal recessive,

56 HBA % 49% 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Thalassemias, alpha-, Methemoglobinemias, alpha- Erythremias, alpha- Heinz body anemias, alpha-, Hemoglobin H disease, nondeletional, HBA % 49% Thalassemia, alpha-, Heinz body anemia, Erythrocytosis Hypochromic microcytic anemia Hemoglobin H disease, nondeletional, HBB % 100% Sickle cell anemia, Thalassemias, beta-, Erythremias, beta- Methemoglobinemias, beta- Heinz body anemias, beta-, Thalassemia-beta, dominant inclusion-body, Hereditary persistence of fetal hemoglobin, 141 HBD % 100% Thalassemia, delta- Thalassemia due to Hb Lepore HBG % 21% Fetal hemoglobin quantitative trait locus 1, HBG % 65% Fetal hemoglobin quantitative trait locus 1, Cyanosis, transient neonatal, HCCS % 96% Microphthalmia, syndromic 7, HCFC % 78% Mental retardation, X-linked 3, HCN % 95% Sick sinus syndrome 2, Brugada syndrome 8, HCRT % 81% Narcolepsy 1, HDAC % 88% Brachydactyly-mental retardation syndrome, HDAC % 84% Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, HDAC % 82% Wilson-Turner syndrome, Cornelia de Lange syndrome 5, HEATR % 78% Ciliary dyskinesia, primary, 18, HEPACAM % 84% Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation,

57 HERC % 60% [Skin/hair/eye pigmentation 1, blue/nonblue eyes], [Skin/hair/eye pigmentation 1, blond/brown hair], HES % 76% Spondylocostal dysostosis 4, autosomal recessive, HESX % 99% Septooptic dysplasia, Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, HEXA % 100% Tay-Sachs disease, GM2-gangliosidosis, several forms, [Hex A pseudodeficiency], HEXB % 100% Sandhoff disease, infantile, juvenile, and adult forms, HFE % 98% Hemochromatosis, {Microvascular complications of diabetes 7}, {Porphyria variegata, susceptibility to}, {Porphyria cutanea tarda, susceptibility to}, {Alzheimer disease, susceptibility to}, [Transferr HFE % 96% Hemochromatosis type 2A HFM % 98% Split hand/foot malformation 1 (4) HGD % 100% Alkaptonuria, HGF % 100% Deafness, autosomal recessive 39, HGSNAT % 93% Mucopolysaccharidosis type IIIC (Sanfilippo C), HIBCH % 99% 3-hydroxyisobutryl-CoA hydrolase deficiency, HINT % 85% Neuromyotonia and axonal neuropathy, autosomal recessive, HK % 100% Hemolytic anemia due to hexokinase deficiency, Neuropathy, hereditary motor and sensory, Russe type, HLCS % 100% Holocarboxylase synthetase deficiency, HMBS % 98% Porphyria, acute intermittent, Porphyria, acute intermittent, nonerythroid variant, HMGCL % 99% HMG-CoA lyase deficiency, HMGCS % 99% HMG-CoA synthase-2 deficiency, HMOX % 95% Heme oxygenase-1 deficiency, {Pulmonary disease, chronic obstructive, susceptibility to}, HMX % 78% Oculoauricular syndrome,

58 HNF1A % 95% MODY, type III, {Diabetes mellitus, noninsulin-dependent, 2}, {Diabetes mellitus, insulin-dependent}, Hepatic adenoma, somatic, Renal cell carcinoma, Diabetes mellitus, insulin-dependent, 20, HNF1B % 96% Renal cysts and diabetes syndrome, Diabetes mellitus, noninsulin-dependent, {Renal cell carcinoma}, HNF4A % 93% MODY, type I, {Diabetes mellitus, noninsulin-dependent}, HNRNPA % 86%?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3, Amyotrophic lateral sclerosis 19, HOGA % 94% Hyperoxaluria, primary, type III, HOXA % 100% Bosley-Salih-Alorainy syndrome, Athabaskan brainstem dysgenesis syndrome, HOXA % 100% Radioulnar synostosis with amegakaryocytic thrombocytopenia, HOXA % 69% Hand-foot-uterus syndrome, Guttmacher syndrome, HOXB % 100% Facial paresis, hereditary congenital, 3 HOXC % 96% Ectodermal dysplasia 9, hair/nail type, HOXD % 100% Vertical talus, congenital, Charcot-Marie-Tooth disease, foot deformity of, HOXD % 98% Synpolydactyly, type II, Brachydactyly, type E, Brachydactyly, type D, Synpolydactyly with foot anomalies, Syndactyly, type V, Brachydactyly-syndactyly syndrome, VACTERL association, HPD % 100% Tyrosinemia, type III, Hawkinsinuria, HPGD % 76% Cranioosteoarthropathy, Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Digital clubbing, isolated congenital,

59 HPRT % 78% Lesch-Nyhan syndrome, HPRT-related gout, HPS % 92% Hermansky-Pudlak syndrome 1, HPS % 100% Hermansky-Pudlak syndrome 3, HPS % 97% Hermansky-Pudlak syndrome 4, HPS % 100% Hermansky-Pudlak syndrome 5, HPS % 93% Hermansky-Pudlak syndrome 6, HPSE % 97% Urofacial syndrome 1, HR % 93% Alopecia universalis, Atrichia with papular lesions, Hypotrichosis, hereditary, Marie Unna type, 1, HRAS % 99% {Bladder cancer, somatic}, Costello syndrome, {Thyroid carcinoma, follicular, somatic}, Congenital myopathy with excess of muscle spindles, {Nevus sebaceous, somatic}, Schimmelpenning-Feuerstein-Mims s HRG % 94% Thrombophilia due to HRG deficiency, Thrombophilia due to elevated HRG, (1) HSD11B % 100% Cortisone reductase deficiency 2, HSD11B % 78% Apparent mineralocorticoid excess, HSD17B % 91% 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, X-linked syndromic 10, Mental retardation, X-linked 17/31, microduplication, HSD17B % 96% Pseudohermaphroditism, male, with gynecomastia, HSD17B % 99% D-bifunctional protein deficiency, Perrault syndrome 1, HSD3B % 78% 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, HSD3B % 82% Bile acid synthesis defect, congenital, 1, HSF % 98% Cataract 5, multiple types, HSPB % 80% Neuropathy, distal hereditary motor, type IIB, Charcot-Marie-Tooth disease, axonal, type 2F, HSPB % 100% Neuronopathy, distal hereditary motor, type IIC, HSPB % 100% Neuropathy, distal hereditary motor, type IIA, Charcot-Marie-Tooth disease, axonal, type 2L, HSPD % 36% Spastic paraplegia 13, autosomal dominant,

60 Leukodystrophy, hypomyelinating, 4, HSPG % 93% Schwartz-Jampel syndrome, type 1, Dyssegmental dysplasia, Silverman-Handmaker type, HTR1A % 100% Periodic fever, menstrual cycle dependent, HTRA % 78% {Macular degeneration, age-related, 7}, {Macular degeneration, age-related, neovascular type}, CARASIL syndrome, HTRA % 99% Parkinson disease 13, HTT % 97% Huntington disease, HUWE % 86% Mental retardation, X-linked syndromic, Turner type, HYAL % 96% Mucopolysaccharidosis type IX, HYDIN % 85% Ciliary dyskinesia, primary, 5, HYLS % 100% Hydrolethalus syndrome, ICK % 100% Endocrine-cerebroosteodysplasia, ICOS % 100% Immunodeficiency, common variable, 1, IDH % 94% D-2-hydroxyglutaric aciduria 2, IDH3B % 95% Retinitis pigmentosa 46, IDS % 77% Mucopolysaccharidosis II, IDUA % 84% Mucopolysaccharidosis Ih, Mucopolysaccharidosis Is, Mucopolysaccharidosis Ih/s, IER3IP % 99% Microcephaly, epilepsy, and diabetes syndrome, IFITM % 86% Osteogenesis imperfecta, type V, IFNGR % 100% Mycobacterial infection, atypical, familial disseminated, BCG infection, generalized familial, {H. pylori infection, susceptibility to}, {Tuberculosis, susceptibility to}, {Mycobacterium tuberculosis infection, IFT % 95% Cranioectodermal dysplasia 1, IFT % 95% Mainzer-Saldino syndrome, IFT % 97% Short-rib thoracic dysplasia 10 with or without polydactyly, Mainzer-Saldino syndrome (Halbritter (2013) Am J Hum Genet 93, 915) Asphyxiating thoracic dystrophy with or without Joubert Syndrome (Halbritter (2013) Am J Hum Genet 93, 915) IFT % 100% Cranioectodermal dysplasia 3, IFT % 93% Asphyxiating thoracic dystrophy 2,

61 IGBP % 74% Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, IGF % 100% Growth retardation with deafness and mental retardation due to IGF1 deficiency, IGF1R % 99% Insulin-like growth factor I, resistance to, IGF2R % 95% Hepatocellular carcinoma IGFALS % 98% Acid-labile subunit, deficiency of IGFBP % 32% Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, IGHMBP % 88% Neuronopathy, distal hereditary motor, type VI, IGLL % 39% Agammaglobulinemia 2, IGSF % 92% Hypothyroidism, central, and testicular enlargement, IHH % 100% Acrocapitofemoral dysplasia, Brachydactyly, type A1, IKBKAP % 99% Dysautonomia, familial, IKBKB % 94% Immunodeficiency 15, (3) IKBKG % 22% Incontinentia pigmenti, type II, Ectodermal dysplasia, hypohidrotic, with immune deficiency, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, isolated, {Atypical mycobacterio IKZF % 99% Leukemia, acute lymphoblastic IL10RA % 100% Inflammatory bowel disease 28, early onset, autosomal recessive, IL10RB % 94% Inflammatory bowel disease 25 early onset autosomal recessive IL11RA % 96% Craniosynostosis and dental anomalies, IL17F % 93% Candidiasis, familial, 6, autosomal dominant, IL17RA % 92% Candidiasis, familial, 5, autosomal recessive, IL17RD % 96% Hypogonadotropic hypogonadism 18 with or without anosmia, IL1RAPL % 99% Mental retardation, X-linked 21/34, IL1RN % 100% {Gastric cancer risk after H. pylori infection}, {Microvascular complications of diabetes 4}, Interleukin 1 receptor antagonist deficiency, IL21R % 99% [IgE, elevated level of], Immunodeficiency, primary, autosomal recessive, IL21R-related, IL2RA % 99% Interleukin-2 receptor, alpha chain, deficiency of, {Diabetes, mellitus, insulin-dependent, susceptibility to, 10},

62 IL2RG % 87% Severe combined immunodeficiency, X-linked, Combined immunodeficiency, X-linked, moderate, IL31RA % 96% Amyloidosis, primary localized cutaneous, 2, IL36RN % 100% Psoriasis, generalized pustular, IL7R % 100% Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, ILDR % 99% Deafness, autosomal recessive 42, IMPAD % 100% Chondrodysplasia with joint dislocations, GRAPP type, IMPDH % 60% Retinitis pigmentosa 10, Leber congenital amaurosis 11, IMPG % 97% Retinitis pigmentosa 56, Maculopathy, IMPG2-related, INF % 85% Glomerulosclerosis, focal segmental, 5, Charcot-Marie-Tooth disease, dominant intermediate E, ING % 98% Squamous cell carcinoma, head and neck, somatic, INPP5E % 99% Mental retardation, truncal obesity, retinal dystrophy, and micropenis, Joubert syndrome 1, INPPL % 95% Opsismodysplasia, INS % 85% Hyperproinsulinemia, familial, with or without diabetes Maturity-onset diabetes of the young, type 10, Diabetes mellitus, permanent neonatal, Diabetes mellitus, type 1, Diabetes mellitus, insulin-dependent, 2, INSL % 85% Cryptorchidism, INSR % 93% Leprechaunism, Rabson-Mendenhall syndrome, Diabetes mellitus, insulin-resistant, with acanthosis nigricans, Hyperinsulinemic hypoglycemia, familial, 5, INVS % 99% Nephronophthisis 2, infantile, IQCB % 94% Senior-Loken syndrome 5, IQSEC % 67% Mental retardation, X-linked 1, IRAK % 100% IRAK4 deficiency, Invasive pneumococcal disease, recurrent isolated, 1,

63 IRF % 100% Myelodysplastic syndrome, preleukemic Myelogenous leukemia, acute Gastric cancer, somatic, Nonsmall cell lung cancer, somatic, IRF % 100% Multiple myeloma, IRF % 94% van der Woude syndrome, Popliteal pterygium syndrome 1, Orofacial cleft 6, IRF % 98% Monocyte and dendritic cell deficiency, recessive, CD11C+/CD1C+ dendritic cell deficiency, dominant, IRGM % 100% {Mycobacterium tuberculosis, protection against}, Inflammatory bowel disease 19, IRX % 88% Hamamy syndrome, ISCU % 96% Myopathy with lactic acidosis, hereditary, ISPD % 90% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, ITCH % 95% Autoimmune disease, syndromic multisystem, ITGA2B % 91% BAK platelet antigen Glanzmann thrombasthenia, Thrombocytopenia, neonatal alloimmune, BAK antigen related Bleeding disorder, platelet-type, 16, autosomal dominant, ITGA % 94% Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, ITGA % 98% Epidermolysis bullosa, junctional, with pyloric stenosis, ITGA % 93% Muscular dystrophy, congenital, due to ITGA7 deficiency, ITGA % 98% Renal hypodysplasia/aplasia 1, (3) ITGB % 98% Leukocyte adhesion deficiency, ITGB % 98% PL(A) platelet antigen Glanzmann thrombasthenia, Thrombocytopenia, neonatal alloimmune {Myocardial infarction, susceptibility to}, Purpura, posttransfusion Bleeding disorder, platelet-type, 16, autosomal dominant, ITGB % 92% Epidermolysis bullosa, junctional, with pyloric atresia, Epidermolysis bullosa, junctional, non-herlitz type, Epidermolysis bullosa of hands and feet, ITK % 100% Lymphoproliferative syndrome 1, ITM2B % 100% Dementia, familial British, Dementia, familial Danish,

64 ITPR % 98% Spinocerebellar ataxia 15, Spinocerebellar ataxia 29, congenital nonprogressive, IVD % 96% Isovaleric acidemia, IYD % 99% Thyroid dyshormonogenesis 4, JAG % 96% Alagille syndrome, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon JAK % 98% Polycythemia vera, Thrombocythemia 3, Myelofibrosis, somatic, {Budd-Chiari syndrome}, Leukemia, acute myelogenous, Erythrocytosis, somatic, JAK % 96% SCID, autosomal recessive, T-negative/B-positive type, JAM % 89% Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, JPH % 94% Cardiomyopathy, familial hypertrophic 17, JPH % 97% Huntington disease-like 2, JUP % 95% Naxos disease, Arrhythmogenic right ventricular dysplasia 12, KAL % 81% hypogonadism 1 with or without anosmia (Kallmann syndrome 1), KANK % 99% Cerebral palsy, spastic quadriplegic, 2, KANSL % 65% Koolen-De Vries syndrome, KARS % 100% Charcot-Marie-Tooth disease, recessive intermediate, B, Deafness, autosomal recessive 89, KAT6B % 100% SBBYSS syndrome, Genitopatellar syndrome, KBTBD % 96% Nemaline myopathy 6, autosomal dominant, KCNA % 100% Episodic ataxia/myokymia syndrome, KCNA % 98% Atrial fibrillation, familial, 7, KCNC % 68% Spinocerebellar ataxia 13, KCND % 97% Spinocerebellar ataxia 19, KCNE % 100% Jervell and Lange-Nielsen syndrome 2, Long QT syndrome-5, KCNE % 100% Long QT syndrome-6, Atrial fibrillation, familial, 4,

65 KCNE % 100% Brugada syndrome 6, KCNH % 85% Long QT syndrome-2, {Long QT syndrome-2, acquired, susceptibility to}, Short QT syndrome-1, KCNJ % 97% Bartter syndrome, type 2, KCNJ % 100% SESAME syndrome, Enlarged vestibular aqueduct, digenic, KCNJ % 100% Hyperinsulinemic hypoglycemia, familial, 2, Diabetes, permanent neonatal, Diabetes mellitus, permanent neonatal, with neurologic features, {Diabetes mellitus, type 2, susceptibility to}, Diabetes mellitus, trans KCNJ % 100% Snowflake vitreoretinal degeneration, Leber congenital amaurosis 16, KCNJ % 92% Andersen syndrome, Short QT syndrome-3, Atrial fibrillation, familial, 9, KCNJ % 100% Long QT syndrome 13, Hyperaldosteronism, familial, type III, KCNK % 92% Pulmonary hypertension, primary, 4, KCNMA % 89% Generalized epilepsy and paroxysmal dyskinesia, KCNQ % 81% Long QT syndrome-1, Jervell and Lange-Nielsen syndrome, Atrial fibrillation, familial, 3, Short QT syndrome-2, {Long QT syndrome 1, acquired, susceptibility to}, KCNQ % 98% Seizures, benign neonatal, 1, Myokymia, Epileptic encephalopathy, early infantile, 7, KCNQ % 98% Seizures, benign neonatal, type 2, KCNQ % 90% Deafness, autosomal dominant 2A, KCNT % 93% Epileptic encephalopathy, early infantile, 14, Epilepsy, nocturnal frontal lobe, 5, KCNV % 99% Retinal cone dystrophy 3B, KCTD % 97% Scalp-ear-nipple syndrome, KCTD % 87% Epilepsy, progressive myoclonic 3, with or without intracellular inclusions,

66 KDM5C % 93% Mental retardation, X-linked, syndromic, Claes-Jensen type, KDM6A % 92% Kabuki syndrome 2, KDR % 99% Hemangioma, capillary infantile, somatic, {Hemangioma, capillary infantile, susceptibility to}, KERA % 100% Cornea plana congenita, recessive, KHDC3L % 100% Hydatidiform mole, recurrent, 2, KIAA % 98% Spastic paraplegia 8, autosomal dominant, KIAA % 95% Goldberg-Shprintzen megacolon syndrome, KIAA % 99%?Mental retardation, nonsyndromic, X-linked (2) KIF % 96% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, KIF1A % 92% Spastic paraplegia 30, autosomal recessive, Neuropathy, hereditary sensory, type IIC, Mental retardation, autosomal dominant 9, KIF1B % 100% Charcot-Marie-Tooth disease, type 2A1, Pheochromocytoma, {Neuroblastoma, susceptibility to, 1}, KIF1C % 96% Spastic ataxia 2, autosomal recessive, KIF21A % 98% Fibrosis of extraocular muscles, congenital, 1, Fibrosis of extraocular muscles, congenital, 3B, KIF % 97% Spondyloepimetaphyseal dysplasia with joint laxity, type 2, KIF2A % 97% Cortical dysplasia, complex, with other brain malformations 3, KIF5A % 98% Spastic paraplegia 10, autosomal dominant, KIF % 86% Hydrolethalus syndrome 2, Acrocallosal syndrome, Joubert syndrome 12, KIRREL % 91% Mental retardation, autosomal dominant 4, KISS % 69% Hypogonadotropic hypogonadism 13 with or without anosmia, KISS % 69% Hypogonadotropic hypogonadism 8 with or without anosmia, Precocious puberty, central, 1, KISS1R % 90% Hypogonadotropic hypogonadism 8 with or without anosmia, Precocious puberty, central, 1, KIT % 96% Piebaldism, Gastrointestinal stromal tumor, familial, Mast cell disease, Leukemia, acute myeloid,

67 Germ cell tumors, KITLG % 99% [Skin/hair/eye pigmentation 7, blond/brown hair], Hyperpigmentation, familial progressive, 2, KL % 96% {Coronary artery disease, susceptibility to} Tumoral calcinosis, hyperphosphatemic, KLF % 99% Blood group--lutheran inhibitor, [Hereditary persistence of fetal hemoglobin], Anemia, dyserythropoietic congenital, type IV, KLF % 97% Maturity-onset diabetes of the young, type VII, KLF % 100% Prostate cancer, somatic, Gastric cancer, somatic, KLHDC8B % 72% Hodgkin lymphoma, KLHL % 100% Spermatogenic failure 11, KLHL % 91% Pseudohypoaldosteronism, type IID, KLHL % 100% Nemaline myopathy 8, autosomal recessive, KLHL % 100% Nemaline myopathy 9, (3) KLHL % 100% Retinitis pigmentosa 42, KLK % 100% Amelogenesis imperfecta, type IIA1, KLKB % 100% Fletcher factor deficiency, KLLN % 100% Cowden syndrome 4, KMT2A % 98% Wiedemann-Steiner syndrome KMT2D % 98% Kabuki syndrome 1 KPTN % 95% Mental retardation, autosomal recessive 41, (3) KRAS % 88% Lung cancer, somatic, Bladder cancer, somatic, Pancreatic carcinoma, somatic, Gastric cancer, somatic, Leukemia, acute myelogenous Noonan syndrome 3, Cardiofaciocutaneous syndrome 2, Br KRIT % 99% Cavernous malformations of CNS and retina

68 KRT % 100% Epidermolytic hyperkeratosis, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Ichthyosis histrix, Curth-Macklin type, Palmoplantar keratoderma, nonepidermolytic, Palmoplantar keratoderma, epidermolytic, 1 KRT % 88% Epidermolytic hyperkeratosis, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Ichthyosis with confetti, KRT % 95% Meesmann corneal dystrophy, KRT % 99% White sponge nevus, KRT % 44% Epidermolysis bullosa simplex, Dowling-Meara type, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex, recessive 1, Naegeli-Franceschetti-Jadassohn syndrome, Dermatopathia pigmentosa reti KRT % 7% Pachyonychia congenita, Jadassohn-Lewandowsky type, Palmoplantar keratoderma, nonepidermolytic, focal, KRT % 5% Pachyonychia congenita, Jackson-Lawler type, Steatocystoma multiplex, KRT % 40% Cirrhosis, cryptogenic {Cirrhosis, noncryptogenic, susceptibility to}, KRT % 97% Ichthyosis bullosa of Siemens, KRT % 100% Meesmann corneal dystrophy, KRT % 95% White sponge nevus, KRT % 98% Epidermolysis bullosa simplex, Dowling-Meara type, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex, Weber-Cockayne type, Epidermolysis bullosa simplex with mottled pigmentation, Dowlin KRT6A % 44% Pachyonychia congenita, Jadassohn-Lewandowsky type, KRT6B % 49% Pachyonychia congenita, Jackson-Lawler type, KRT6C % 35% Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, KRT % 90% Woolly hair, autosomal dominant, Hypotrichosis simplex of the scalp 2, KRT % 60% Cirrhosis, cryptogenic {Cirrhosis, noncryptogenic, susceptibility to}, KRT % 43% Monilethrix,

69 KRT % 42% Monilethrix, KRT % 57% Ectodermal dysplasia 4, hair/nail type, KRT % 42% Monilethrix, KRT % 90% Palmoplantar keratoderma, epidermolytic, L1CAM % 92% Hydrocephalus due to aqueductal stenosis, MASA syndrome, CRASH syndrome, Hydrocephalus with Hirschsprung disease, Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, Corpus callosum L2HGDH % 97% L-2-hydroxyglutaric aciduria, LAMA % 98% Muscular dystrophy, congenital merosin-deficient, Muscular dystrophy, congenital, due to partial LAMA2 deficiency, LAMA % 99% Cardiomyopathy dilated 1JJ LAMB % 99% Lissencephaly 5, LAMB % 99% Nephrotic syndrome, type 5, with or without ocular abnormalities, Pierson syndrome, LAMB % 93% Epidermolysis bullosa, junctional, Herlitz type, Epidermolysis bullosa, junctional, non-herlitz type, LAMC % 99% Epidermolysis bullosa, junctional, Herlitz type, Epidermolysis bullosa, junctional, non-herlitz type, LAMC % 94% Cortical malformations, occipital, LAMP % 90% Danon disease, LAMTOR % 100% Immunodeficiency due to defect in MAPBP-interacting protein, LARGE % 96% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, LARP % 100% Alazami syndrome, LARS % 99% Perrault syndrome 4, LBR % 100% Pelger-Huet anomaly, HEM skeletal dysplasia, Reynolds syndrome, LCA % 98% Leber congenital amaurosis 5, LCAT % 88% Norum disease, Fish-eye disease,

70 LCT % 99% Lactase deficiency, congenital, LDB % 93% Myopathy, myofibrillar, 4, Cardiomyopathy, dilated 1C, Left ventricular noncompaction 3, with or without dilated cardiomyopathy, LDHA % 58% Glycogen storage disease XI, LDHB % 100% Lactate dehydrogenase-b deficiency, LDLR % 99% C3 Hypercholesterolemia, familial, LDL cholesterol level QTL2, LDLRAP % 96% Hypercholesterolemia, familial, autosomal recessive, LEF % 99% Sebaceous tumors, somatic LEFTY % 66% - LEMD % 100% Osteopoikilosis, Buschke-Ollendorff syndrome, Melorheostosis with osteopoikilosis, LEP % 100% Obesity, morbid, due to leptin deficiency, LEPR % 93% Obesity, morbid, due to leptin receptor deficiency, LEPRE % 99% Osteogenesis imperfecta, type VIII, LEPREL % 88% Myopia, high, with cataract and vitreoretinal degeneration, LFNG % 79% Spondylocostal dysostosis, autosomal recessive 3, LGI % 100% Epilepsy, familial temporal lobe, 1, LHB % 50% Hypogonadism, hypergonadotropic?male pseudohermaphroditism due to defective LH (1) LHCGR % 94% Precocious puberty, male, Leydig cell hypoplasia with pseudohermaphroditism, Leydig cell hypoplasia with hypergonadotropic hypogonadism, Luteinizing hormone resistance, female, Leydig cell adenoma, somatic, with LHFPL % 100% Deafness, autosomal recessive 67, LHX % 90% Pituitary hormone deficiency, combined, 3, LHX % 100% Pituitary hormone deficiency, combined, 4, LIAS % 100% Pyruvate dehydrogenase lipoic acid synthetase deficiency, LIFR % 97% Stuve-Wiedemann syndrome/schwartz-jampel type 2 syndrome, LIG % 93% DNA ligase I deficiency

71 LIG % 100% LIG4 syndrome, {Multiple myeloma, resistance to}, Severe combined immunodeficiency with sensitivity to ionizing radiation, LIM % 81% Cataract 19, LINS % 100% Mental retardation, autosomal recessive 27, (3) LIPA % 100%? Wolman disease, Cholesteryl ester storage disease, LIPC % 95% [High density lipoprotein cholesterol level QTL 12], {Diabetes mellitus, noninsulin-dependent}, Hepatic lipase deficiency, LIPH % 100% Hypotrichosis, localized, autosomal recessive 2, Woolly hair, autosomal recessive 2 with or without hypotrichosis, LIPN % 94% Ichthyosis, congenital, autosomal recessive 8, LITAF % 100% Charcot-Marie-Tooth disease, type 1C, LMAN % 100% Combined factor V and VIII deficiency, LMBR % 98% Acheiropody, Polydactyly, preaxial type II, Triphalangeal thumb, type I, Triphalangeal thumb-polysyndactyly syndrome, Syndactyly, type IV, LMBRD % 100% Methylmalonic aciduria and homocystinuria, cblf type, LMF % 98% Lipase deficiency, combined, LMNA % 89% Emery-Dreifuss muscular dystrophy 2, AD, Cardiomyopathy, dilated, 1A, Lipodystrophy, familial partial, 2, Emery-Dreifuss muscular dystrophy 3, AR, Charcot-Marie-Tooth disease, type 2B1, Muscular dystr LMNB % 85% Leukodystrophy, adult-onset, autosomal dominant, LMX1B % 98% Nail-patella syndrome, LOR % 95% Vohwinkel syndrome with ichthyosis, LOXHD % 99% Deafness, autosomal recessive 77, LPAR % 100% Hypotrichosis 8, Woolly hair, autosomal recessive 1, with or without hypotrichosis, LPIN % 99% Myoglobinuria, acute recurrent, autosomal recessive, LPIN % 97% Majeed syndrome,

72 LPL % 100% Lipoprotein lipase deficiency, Combined hyperlipidemia, familial, [High density lipoprotein cholesterol level QTL 11] LPP % 99% Leukemia, acute myeloid, LRAT % 100% Retinal dystrophy, early-onset severe, Leber congenital amaurosis 14, Retinitis pigmentosa, juvenile, LRBA % 98% Immunodeficiency, common variable, 8, with autoimmunity, LRIG % 98% Urofacial syndrome 2, LRIT % 94% Night blindness, congenital stationary (complete), 1F, autosomal recessive, LRP % 99% Donnai-Barrow syndrome, LRP % 96% Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, LRP % 94% Osteoporosis-pseudoglioma syndrome, [Bone mineral density variability 1], Hyperostosis, endosteal, van Buchem disease, type 2, Osteosclerosis, {Osteoporosis}, Exudative vitreoretinopathy 4, LRPAP % 96% Myopia 23, autosomal recessive, LRPPRC % 96% Leigh syndrome, French-Canadian type, LRRC % 100% Ciliary dyskinesia, primary, 19, LRRC8A % 100% Agammaglobulinemia 5, LRRK % 99% Parkinson disease 8, LRSAM % 97% Charcot-Marie-Toothe disease, axonal, type 2P, LRTOMT % 90% Deafness, autosomal recessive 63, LTBP % 94% Glaucoma 3, primary congenital, D, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome 3, recessive, LTBP % 95% Tooth agenesis, selective, 6, LTBP % 90% Cutis laxa, autosomal recessive, type IC, LYST % 96% Chediak-Higashi syndrome LYZ % 100% Amyloidosis, renal, LZTFL % 100% Bardet-Biedl syndrome 17,

73 LZTS % 97% Esophageal squamous cell carcinoma MAD1L % 92% Lymphoma, somatic Prostate cancer, somatic, MAF % 75% Cataract, pulverulent or cerulean, with or without microcornea, MAFB % 100% Multicentric carpotarsal osteolysis syndrome, MAGEL % 91% Prader-Willi-like syndrome, MAGT % 100% Mental retardation, X-linked 95, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MAK % 95% REtinitis pigmentosa 62, MAML % 100% Mucoepidermoid salivary gland carcinoma MAMLD % 100% Hypospadias 2, X-linked, MAN1B % 99% Mental retardation, autosomal recessive 15, MAN2B % 92% Mannosidosis, alpha-, types I and II, MANBA % 99% Mannosidosis, beta, MAOA % 95% Brunner syndrome, MAP2K % 88% Cardiofaciocutaneous syndrome 3, MAP2K % 98% Cardiofaciocutaneous syndrome 4, MAP3K % 95% 46XY sex reversal 6, MAP3K % 99% Lung cancer, somatic, MAPT % 37% Dementia, frontotemporal, with or without parkinsonism, Pick disease, Supranuclear palsy, progressive, Supranuclear palsy, progressive atypical, {Parkinson disease, susceptibility to}, Tauopathy and r MARS % 100% Spastic ataxia 3, autosomal recessive, MARVELD % 95% Deafness, autosomal recessive 49, MASP % 99% 3MC syndrome 1, MASP % 92% MASP2 deficiency, MASTL % 100% Thrombocytopenia-2, MAT1A % 99% Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, Methionine adenosyltransferase deficiency, autosomal recessive,

74 MATN % 84% Epiphyseal dysplasia, multiple, 5, {Osteoarthritis susceptibility 2}, Spondyloepimetaphyseal dysplasia, MATR % 93% Myopathy, distal 2, MBD % 99% Mental retardation, autosomal dominant 1, MBTPS % 98% IFAP syndrome with or without BRESHECK syndrome, Keratosis follicularis spinulosa decalvans, X-linked, MC2R % 100% Glucocorticoid deficiency, due to ACTH unresponsiveness, MC4R % 100% Obesity, autosomal dominant, MCC % 97% Colorectal cancer MCCC % 98% 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MCCC % 92% 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MCEE % 100% Methylmalonyl-CoA epimerase deficiency, MCFD % 96% Factor V and factor VIII, combined deficiency of, MCM % 97% Natural killer cell and glucocorticoid deficiency with DNA repair defect, MCM % 97% Lactase persistance/nonpersistance, MCOLN % 92% Mucolipidosis IV, MCPH % 100% Microcephaly 1, primary, autosomal recessive, MECOM % 98% Myelodysplasia syndrome-1 MECP % 90% Rett syndrome, Mental retardation, X-linked, syndromic 13, Rett syndrome, preserved speech variant, Encephalopathy, neonatal severe, {Autism susceptibility, X-linked 3}, Angelman syndrome, MED % 85% Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, X-linked, MED13L % 99% Transposition of the great arteries, dextro-looped 1, MED % 97% Microcephaly, postnatal progressive, with seizures and brain atrophy, MED % 100% Mental retardation, autosomal recessive 18, MED % 87% Charcot-Marie-Tooth disease, type 2B2, MEF2C % 100% Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, Chromosome 5q14.3 deletion syndrome, (4)

75 MEFV % 100% Familial Mediterranean fever, AR, Familial Mediterranean fever, AD, MEGF % 99% Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, MEGF % 93% Carpenter syndrome 2, MEN % 96% Multiple endocrine neoplasia 1, Carcinoid tumor of lung Parathyroid adenoma, somatic Lipoma, somatic Angiofibroma, somatic Adrenal adenoma, somatic MEOX % 99% Klippel-Feil syndrome 2, MERTK % 99% Retinitis pigmentosa 38, MESP % 100% Spondylocostal dysostosis, autosomal recessive 2, MET % 100% Renal cell carcinoma, papillary, familial and somatic, Hepatocellular carcinoma, childhood type, {Autism suseptibility 9}, MFN % 97% Charcot-Marie-Tooth disease, type 2A2, Hereditary motor and sensory neuropathy VI, MFRP % 99% Microphthalmia, isolated 5, Nanophthalmos 2, MFSD % 100% Ceroid lipofuscinosis, neuronal, 7, MGAT % 100% Congenital disorder of glycosylation, type IIa, MGME % 100% Mitochondrial DNA depletion syndrome 11, MGP % 98% Keutel syndrome, {Natural teeth remaining intact} (2) MIB % 100% Left ventricular noncompaction 7, MICU % 98% Myopathy with extrapyramidal signs, (3) MID % 96% Opitz GBBB syndrome, type I, MINPP % 100% Thyroid carcinoma, follicular, MIP % 97% Cataract 15, multiple types, MITF % 100% Waardenburg syndrome, type 2A, Waardenburg syndrome/ocular albinism, digenic, Tietz albinism-deafness syndrome, {Melanoma, cutaneous malignant, susceptibility to, 8},

76 MKKS % 100% McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, MKL % 91% Megakaryoblastic leukemia, acute MKRN % 100% Precocious puberty, central, 2, MKS % 99% Meckel syndrome 1, Bardet-Biedl syndrome 13, MLC % 100% Megalencephalic leukoencephalopathy with subcortical cysts, MLH % 99% Colorectal cancer, hereditary nonpolyposis, type 2, Mismatch repair cancer syndrome, Muir-Torre syndrome, MLH % 99% Colorectal cancer, somatic, Colorectal cancer, hereditary nonpolyposis, type 7, Endometrial cancer, MLLT % 95% Leukemia acute myeloid MLLT % 100% Leukemia, acute myelomonocytic MLPH % 95% Griscelli syndrome, type 3, MLYCD % 81% Malonyl-CoA decarboxylase deficiency, MMAA % 100% Methylmalonic aciduria, vitamin B12-responsive, MMAB % 92% Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type, MMACHC % 100% Methylmalonic aciduria and homocystinuria, cblc type, MMADHC % 100% Homocystinuria cbld type variant 1 MMP % 100% COPD, rate of decline of lung function in, {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, MMP % 100% Spondyloepimetaphyseal dysplasia, Missouri type, Metaphyseal anadysplasia 1, MMP % 100% Torg-Winchester syndrome, MMP % 98% Amelogenesis imperfecta, type IIA2, MMP % 91% Metaphyseal anadysplasia 2, MN % 100% Meningioma, MNX % 65% Currarino syndrome, MOCS % 92% Molybdenum cofactor deficiency, type A, MOCS % 100% Molybdenum cofactor deficiency, type B, MOG % 42% Narcolepsy 7, MOGS % 100% Congenital disorder of glycosylation type IIb

77 MPC % 100% Mitochondrial pyruvate carrier deficiency MPDU % 99% Congenital disorder of glycosylation, type If, MPDZ % 97% Hydrocephalus, nonsyndromic, autosomal recessive 2, MPI % 97% Congenital disorder of glycosylation, type Ib, MPL % 94% Thrombocytopenia, congenital amegakaryocytic, Thrombocythemia 2, Myelofibrosis with myeloid metaplasia, somatic, MPLKIP % 100% Trichothiodystrophy, nonphotosensitive 1, MPO % 97% Myeloperoxidase deficiency, {Alzheimer disease, susceptibility to}, {Lung cancer, protection against, in smokers} MPV % 100% Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPZ % 95% Charcot-Marie-Tooth disease, type 1B, Dejerine-Sottas disease, Neuropathy, congenital hypomyelinating, Charcot-Marie-Tooth disease, type 2J, Roussy-Levy syndrome, Charcot-Marie-Tooth disease, type 2I, MRAP % 95% Glucocorticoid deficiency 2 MRE11A % 100% Ataxia-telangiectasia-like disorder, MRPL % 92% Combined oxidative phosphorylation deficiency 9, MRPS % 100% Combined oxidative phosphorylation deficiency 2, MRPS % 100% Combined oxidative phosphorylation deficiency 5, MS4A % 100% Immunodeficiency, common variable, 5, MSH % 96% Colorectal cancer, hereditary nonpolyposis, type 1, Muir-Torre syndrome, Mismatch repair cancer syndrome, MSH % 98% Endometrial carcinoma MSH % 100% Colorectal cancer, hereditary nonpolyposis, type 5, Endometrial cancer, familial, Mismatch repair cancer syndrome, MSR % 98% Prostate cancer, hereditary, Barrett esophagus/esophageal adenocarcinoma, MSRB % 98% Deafness, autosomal recessive 74, MSTN % 100% Muscle hypertrophy

78 MSX % 89% Tooth agenesis, selective, 1, with or without orofacial cleft, Orofacial cleft 5, Ectodermal dysplasia 3, Witkop type, MSX % 62% Craniosynostosis, type 2, Parietal foramina 1, Parietal foramina with cleidocranial dysplasia, MTAP % 100% Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MTFMT % 100% Combined oxidative phosphorylation deficiency 15, MTHFR % 98% Homocystinuria due to MTHFR deficiency, {Schizophrenia, susceptibility to}, {Vascular disease, susceptibility to} {Neural tube defects, susceptibility to}, {Thromboembolism, susceptibility to}, MTM % 98% Myotubular myopathy, X-linked, MTMR % 100% Charcot-Marie-Tooth disease, type 4B1, MTO % 98% Combined oxidative phosphorylation deficiency 10, MTPAP % 91% Ataxia, spastic, 4, MTR % 99% Homocystinuria-megaloblastic anemia, cblg complementation type, {Neural tube defects, folate-sensitive, susceptibility to}, MTRR % 98% Homocystinuria-megaloblastic anemia, cbl E type, {Neural tube defects, folate-sensitive, susceptibility to}, MTTP % 98% Abetalipoproteinemia MUC % 87% Medullary cystic kidney disease 1, MUSK % 98% Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, MUT % 100% Methylmalonic aciduria, mut(0) type, MUTYH % 100% Adenomas, multiple colorectal, Gastric cancer, somatic, Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, MVK % 97% Mevalonic aciduria, Hyper-IgD syndrome, Porokeratosis 3, disseminated superficial actinic, MXI % 94% Neurofibrosarcoma {Prostate cancer, susceptibility to},

79 MYBPC % 98% Arthrogryposis, distal, type 1B, Lethal congenital contracture syndrome 4, MYBPC % 94% Cardiomyopathy, familial hypertrophic, 4, Cardiomyopathy, dilated, 1MM, Left ventricular noncompaction 10, MYCN % 94% Feingold syndrome, MYD % 96% Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, Macroglobulinemia, Waldenstrom, somatic, MYF % 100% Myopathy, centronuclear, 3, MYH % 97% Aortic aneurysm, familial thoracic 4, MYH % 85% Deafness, autosomal dominant 4A, Peripheral neuropathy, myopathy, hoarseness, and hearing loss, MYH % 93% Inclusion body myopathy-3, MYH % 95% Arthrogryposis, distal, type 2A, Arthrogryposis, distal, type 2B, MYH % 89% Cardiomyopathy, familial hypertrophic, 14, Atrial septal defect 3, Cardiomyopathy, dilated, 1EE, {Sick sinus syndrome 3}, MYH % 88% Cardiomyopathy, familial hypertrophic, 1, Cardiomyopathy, dilated, 1S, Myopathy, myosin storage, Laing distal myopathy, Scapuloperoneal syndrome, myopathic type, Left ventricular noncompaction 5, 6134 MYH % 86% Carney complex variant, Trismus-pseudocamptodactyly syndrome, MYH % 98% May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, Deafness, autosomal dominant 17, Epstein syndrome, Macrothrombocytopenia and progressive sensorineural deafness, MYL % 100% Cardiomyopathy, familial hypertrophic, 10, MYL % 99% Cardiomyopathy, familial hypertrophic, 8, MYLK % 96% Aortic aneurysm, familial thoracic 7, MYLK % 97% Cardiomyopathy, hypertrophic, midventricular, digenic,

80 MYO15A % 92% Deafness, autosomal recessive 3, MYO1A % 97% Deafness, autosomal dominant 48, MYO1E % 93% Glomerulosclerosis focal segmental 6 MYO3A % 97% Deafness, autosomal recessive 30, MYO5A % 97% Griscelli syndrome, type 1, MYO5B % 92% Microvillus inclusion disease, MYO % 99% Deafness, autosomal dominant 22, Deafness, autosomal recessive 37, Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, MYO7A % 91% Usher syndrome, type 1B, Deafness, autosomal recessive 2, Deafness, autosomal dominant 11, MYOC % 100% Glaucoma 1A, primary open angle, MYOT % 100% Muscular dystrophy, limb-girdle, type 1A, Myopathy, myofibrillar, 3, Myopathy, spheroid body, MYOZ % 100% Cardiomyopathy, familial hypertrophic, 16, MYPN % 96% Cardiomyopathy, dilated, 1KK, Cardiomypathy, familial hypertrophic, 22, Cardiomyopaty, familial restrictive 4, NAA % 86% N-terminal acetyltransferase deficiency, NAGA % 99% Schindler disease, type I, Kanzaki disease, Schindler disease, type III, NAGLU % 89% Mucopolysaccharidosis type IIIB (Sanfilippo B), NAGS % 75% N-acetylglutamate synthase deficiency, NALCN % 97%?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, NANOS % 80% Spermatogenic failure 12, NBAS % 99% Short stature, optic nerve atrophy, and Pelger-Huet anomaly, NBEAL % 98% Gray platelet syndrome, NBN % 97% Leukemia NCF1.9 % % Chronic granulomatous disease due to deficiency of NCF-1, NCF % 98% Chronic granulomatous disease due to deficiency of NCF-2, NCF % 96% Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III,

81 NCOA % 62% Thyroid carcinoma, papillary, NCSTN % 90% Acne inversa, familial, 1, NDE % 96% Lissencephaly 4 (with microcephaly), NDN % 100% Prader-Willi syndrome, NDP % 78% Norrie disease, Exudative vitreoretinopathy, X-linked, NDRG % 92% Charcot-Marie-Tooth disease, type 4D, NDUFA % 100% Mitochondrial complex I deficiency, NDUFA % 97% previous assignment to chr. 12 Leigh syndrome, NDUFA % 84% Mitochondrial complex I deficiency, NDUFA % 100% Leigh syndrome due to mitochondrial complex 1 deficiency, NDUFA % 100% Leigh syndrome due to mitochondrial complex I deficiency, NDUFA % 100% Leigh syndrome due to mitochondrial complex I deficiency, NDUFAF % 100% Mitochondrial complex I deficiency, NDUFAF % 98% Mitochondrial complex I deficiency, Leigh syndrome, NDUFAF % 100% Mitochondrial complex I deficiency, NDUFAF % 100% Mitochondrial complex I deficiency, NDUFAF % 100% Mitochondrial complex 1 deficiency, NDUFAF % 97% Leigh syndrome due to mitochondrial complex I deficiency, NDUFB3 1.5 % % Mitochondrial complex I deficiency, NDUFS % 98% Mitochondrial complex I deficiency, NDUFS % 97% Mitochondrial complex I deficiency, NDUFS % 100% Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial complex I deficiency, NDUFS % 100% Leigh syndrome, Mitochondrial complex I deficiency, NDUFS % 77% Complex I, mitochondrial respiratory chain, deficiency of, NDUFS % 100% Leigh syndrome, NDUFS % 96% Leigh syndrome due to mitochondrial complex I deficiency, NDUFV % 92% Mitochondrial complex I deficiency, NDUFV % 100% Mitochondrial complex I deficiency, NEB % 80% Nemaline myopathy 2, autosomal recessive, NEFL % 100% Charcot-Marie-Tooth disease, type 2E, Charcot-Marie-Tooth disease, type 1F, NEK % 99% Short rib-polydactyly syndrome, type IIA,

82 NEU % 20% Sialidosis, type I, Sialidosis, type II, NEUROD % 100% {Diabetes mellitus, noninsulin-dependent}, Maturity-onset diabetes of the young 6, NEUROG % 100% Diarrhea 4, malabsorptive, congenital, NEXN % 100% Cardiomyopathy, dilated, 1CC, Cardiomyopathy, familial hypertrophic, 20, NF % 81% Neurofibromatosis, type 1, Leukemia, juvenile myelomonocytic, Melanoma, desmoplastic neurotrophic (2) Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Watson syndrome, NF % 98% loss of heterozygosity Neurofibromatosis, type 2, Meningioma, NF2-related, somatic, Schwannomatosis, NFIX % 97% Sotos syndrome 2, Marshall-Smith syndrome, NFKB % 98% Immunodeficiency, common variable, 10, NFKBIA % 100% Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, NFU % 91% Multiple mitochondrial dysfunctions syndrome 1, NGF % 100% Neuropathy hereditary sensory and autonomic type V NHEJ % 99% Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, NHLRC % 100% Epilepsy, progressive myoclonic 2B (Lafora), NHP % 97% Dyskeratosis congenita autosomal recessive 2 NHS % 89% Nance-Horan syndrome, Cataract 40, X-linked, NIN % 99% Seckel syndrome 7, NIPA % 82% Spastic paraplegia 6, autosomal dominant, NIPAL % 98% Ichthyosis, congenital, autosomal recessive 6, NIPBL % 98% Cornelia de Lange syndrome 1, NKX % 100% Goiter, familial, due to TTF-1 defect (1) Chorea, hereditary benign, Choreoathetosis, hypothyroidism, and neonatal respiratory distress,

83 NKX % 99% Atrial septal defect 7, with or without AV conduction defects, Tetrology of Fallot, Hypothyroidism, congenital nongoitrous, 5, Ventricular septal defect 3, Hypoplastic left heart syndrome 2, Conotrunc NKX % 93% Persistent truncus arteriosus, NKX % 98% Spondylo-megaepiphyseal-metaphyseal dysplasia, NLGN4X % 56% Mental retardation X-linked NLRP % 98% Familial cold autoinflammatory syndrome 2, NLRP % 99% Cold-induced autoinflammatory syndrome, familial, Muckle-Wells syndrome, CINCA syndrome, NLRP % 100% Hydatidiform mole NME % 100% Ciliary dyskinesia, primary, 6, NMNAT % 100% Leber congenital amaurosis 9, NNT % 100% Glucocorticoid deficiency 4, NOBOX % 93% Premature ovarian failure 5, NOD % 98% {Inflammatory bowel disease 1}, Blau syndrome, {Psoriatic arthritis, susceptibility to}, Sarcoidosis, early-onset, NODAL % 83% Heterotaxy, visceral, 5, NOG % 100% Symphalangism, proximal, Multiple synostosis syndrome 1, Tarsal-carpal coalition syndrome, Stapes ankylosis with broad thumb and toes, Brachydactyly, type B2, NOL % 100% Myoclonus familial cortical NOP % 100% Dyskeratosis congenita autosomal recessive 1 NOP % 96% Spinocerebellar ataxia 36, NOTCH % 89% Aortic valve disease, Leukemia, T-cell acute lymphoblastic (2) NOTCH % 89% Alagille syndrome 2, Hajdu-Cheney syndrome,

84 NOTCH % 84% Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, ?Myofibromatosis, infantile 2, NPC % 98% Niemann-Pick disease, type C1, Niemann-Pick disease, type D, NPC % 100% Niemann-pick disease, type C2, NPHP % 100% Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, NPHP % 99% Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, Meckel syndrome 7, NPHP % 93% Nephronophthisis 4, Senior-Loken syndrome 4, NPHS % 96% Nephrotic syndrome, type 1, NPHS % 100% Nephrotic syndrome type 2 NPM % 79% Leukemia, acute promyelocytic, NPM/RARA type Leukemia, acute myeloid, NPPA % 98% Atrial fibrillation, familial, 6, NPR % 100% Acromesomelic dysplasia, Maroteaux type, NR0B % 100% 46XY sex reversal 2 dosage-sensitive NR0B % 100% Obesity, mild, early-onset, NR2E % 93% Enhanced S-cone syndrome, Retinitis pigmentosa 37, NR2F % 100% Bosch-Boonstra-Schaaf optic atrophy syndrome, NR3C % 85% Cortisol resistance NR3C % 98% Pseudohypoaldosteronism type I, autosomal dominant, Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, NR4A % 96% Chondrosarcoma extraskeletal myxoid NR5A % 85% 46XY sex reversal 3 NRAS % 100% Autoimmune lymphoproliferative syndrome type IV, Noonan syndrome 6, Epidermal nevus, somatic, Thyroid carcinoma, follicular, somatic, Colorectal cancer, somatic,

85 NRL % 98% Retinitis pigmentosa 27, Retinal degeneration, autosomal recessive, clumped pigment type NRXN % 98% Pitt-Hopkins-like syndrome 2, {Schizophrenia, susceptibility to, 17}, NSD % 100% Sotos syndrome 1, Leukemia, acute myeloid, (1) Beckwith-Wiedemann syndrome, NSDHL % 94% CHILD syndrome, CK syndrome, NSMF % 93% Hypogonadotropic hypogonadism 9 with or without anosmia, NSUN % 90% Mental retardation, autosomal recessive 5, NT5C % 100% Spastic paraplegia 45, NT5C3A % 88% Anemia hemolytic due to UMPH1 deficiency NT5E % 100% Calcification of joints and arteries, NTF % 92% Glaucoma 1, open angle, 1O, NTRK % 94% Insensitivity to pain, congenital, with anhidrosis, Medullary thyroid carcinoma, familial, NTRK % 97% Obesity, hyperphagia, and developmental delay, NUBPL % 100% Mitochondrial complex I deficiency, NUMA % 96% Leukemia, acute promyelocytic, NUMA/RARA type NUP % 99% Leukemia, acute myeloid, Leukemia, T-cell acute lymphoblastic NUP % 97% Striatonigral degeneration, infantile, NYX % 94% Night blindness, congenital stationary (complete), 1A, X-linked, OAT % 71% Gyrate atrophy of choroid and retina with or without ornithinemia, OBSL % 94% 3-M syndrome 2, OCA % 99%?hypopigmentation in PWS and AS Albinism, oculocutaneous, type II, Albinism, brown oculocutaneous, [Skin/hair/eye pigmentation 1, blue/nonblue eyes], [Skin/hair/eye pigmentation 1, blond/brown hair], OCLN % 73% Band-like calcification with simplified gyration and polymicrogyria, OCRL % 94% Lowe syndrome, Dent disease 2, OFD % 78% Oral-facial-digital syndrome 1, Simpson-Golabi-Behmel syndrome, type 2, Joubert syndrome 10,

86 OGG % 98% Renal cell carcinoma, clear cell, somatic, OPA % 99% Optic atrophy 1, {Glaucoma, normal tension, susceptibility to}, Optic atrophy plus syndrome, OPA % 100% 3-methylglutaconic aciduria, type III, Optic atrophy 3 with cataract, OPHN % 88% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, OPLAH % 96% 5-oxoprolinase deficiency, OPN1LW.4 % % Colorblindness, protan, Blue cone monochromacy, OPN1MW.5 % % Colorblindness, deutan, Blue cone monochromacy, OPN1SW % 92% Colorblindness, tritan, OPTN % 100% Glaucoma 1, open angle, E, {Glaucoma, normal tension, susceptibility to}, Amyotrophic lateral sclerosis 12, ORAI % 87% Immunodeficiency 9, ORC % 99% Meier-Gorlin syndrome 1, ORC % 100% Meier-Gorlin syndrome 2, ORC % 98% Meier-Gorlin syndrome 3, OSMR % 100% Amyloidosis, primary localized cutaneous, 1, OSTM % 100% Osteopetrosis, autosomal recessive 5, OTC % 94% Ornithine transcarbamylase deficiency, OTOA % 66% Deafness, autosomal recessive 22, OTOF % 96% Deafness, autosomal recessive 9, Auditory neuropathy, autosomal recessive, 1, OTOG % 94% Deafness, autosomal recessive 18B, OTOGL % 99% Deafness, autosomal recessive 84B, OTX % 100% Microphthalmia, syndromic 5, Pituitary hormone deficiency, combined, 6, Retinal dystrophy, early-onset, and pituitary dysfunction, OXCT % 98% Succinyl CoA:3-oxoacid CoA transferase deficiency, P2RX % 98% Bleeding disorder due to P2RX1 defect P2RX % 99% Deafness, autosomal dominant 41, P2RY % 100% Bleeding disorder, platelet-type, 8,

87 PABPN % 54% Oculopharyngeal muscular dystrophy, PACS % 97% Mental retardation, autosomal dominant 17, PAFAH1B % 80% Lissencephaly 1, Subcortical laminar heterotopia, PAH % 98% Phenylketonuria, [Hyperphenylalaninemia, non-pku mild], PAK % 97% Mental retardation, X-linked 30/47, PALB % 97% Fanconi anemia, complementation group N, {Breast cancer, susceptibility to}, {Pancreatic cancer, susceptibility to, 3}, PANK % 86% Neurodegeneration with brain iron accumulation 1, HARP syndrome, PAPSS % 99% Brachyolmia 4 with mild epiphyseal and metaphyseal changes, PARK % 95% Adenocarcinoma of lung somatic PARK % 100% Parkinson disease 7 autosomal recessive early-onset PAX % 85% Papillorenal syndrome, Renal hypoplasia, isolated, PAX % 96% Waardenburg syndrome, type 1, Waardenburg syndrome, type 3, Craniofacial-deafness-hand syndrome, Rhabdomyosarcoma 2, alveolar, PAX % 93% Maturity-onset diabetes of the young, type IX, Diabetes mellitus, type 2, Diabetes mellitus, ketosis-prone, PAX % 100% Aniridia, Peters anomaly, Cataract with late-onset corneal dystrophy, Keratitis, Foveal hyperplasia, Morning glory disc anomaly, Optic nerve hypoplasia, Coloboma, ocular, PAX % 86% Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, PAX % 99% Tooth agenesis, selective, 3, PC % 92% Pyruvate carboxylase deficiency, PCBD % 98% Hyperphenylalaninemia BH4-deficient D

88 PCCA % 94% Propionicacidemia, PCCB % 100% Propionicacidemia, PCDH % 100% Usher syndrome, type 1F, Deafness, autosomal recessive 23, Usher syndrome, type 1D/F digenic, PCDH % 98% Epileptic encephalopathy, early infantile, 9, PCM % 99% Thyroid carcinoma, papillary, PCNT % 94% Microcephalic osteodysplastic primordial dwarfism, type II, PCSK % 98% Obesity with impaired prohormone processing, {Obesity, susceptibility to, BMIQ12}, PCSK % 93% Hypercholesterolemia, familial, 3, {Low density lipoprotein cholesterol level QTL 1}, PCYT1A % 98% Spondylometaphyseal dysplasia with cone-rod dystrophy, PDCD % 79% Cerebral cavernous malformations 3, PDE11A % 97% Pigmented nodular adrenocortical disease, primary, 2, PDE4D % 91% {Stroke, susceptibility to, 1}, Acrodysostosis 2, with or without hormone resistance, PDE6A % 95% Retinitis pigmentosa 43, PDE6B % 99% Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, PDE6C % 99% Cone dystrophy 4, PDE6G % 100% Retinitis pigmentosa 57, PDE6H % 75% Retinal cone dystrophy 3, Achromatopsia 6, PDE8B % 100% Pigmented nodular adrenocortical disease, primary, 3, Striatal degeneration, autosomal dominant, PDGFB % 100% Meningioma, SIS-related, Dermatofibrosarcoma protuberans, PDGFRA % 99% Gastrointestinal stromal tumor, somatic, Hypereosinophilic syndrome, idiopathic, resistant to imatinib, PDGFRB % 98% Myeloproliferative disorder with eosinophilia, (4) Basal ganglia calcification, idiopathic, 4, Myofibromatosis, infantile, 1, PDGFRL % 96% Hepatocellular cancer, somatic, Colorectal cancer, somatic, PDHA % 90% Pyruvate dehydrogenase E1-alpha deficiency,

89 Leigh syndrome, X-linked, PDHB % 100% Pyruvate dehydrogenase E1-beta deficiency, PDP % 100% Pyruvate dehydrogenase phosphatase deficiency, PDSS % 86% Coenzyme Q10 deficiency, primary, 2, PDSS % 99% Coenzyme Q10 deficiency, primary, 3, PDX % 98% Lacticacidemia due to PDX1 deficiency, PDX % 98% MODY type IV PDYN % 100% Spinocerebellar ataxia 23, PDZD % 86% {Retinal disease in Usher syndrome type IIA, modifier of}, Usher syndrome, type IIC, GPR98/PDZD7 digenic, PEPD % 89% Prolidase deficiency, PER % 99% Advanced sleep phase syndrome, familial, 1, PET % 99% Mitochondrial complex IV deficiency, PEX % 100% Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B (NALD/IRD), PEX % 86% Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, PEX11B % 100% Peroxisome biogenesis disorder 14B, PEX % 100% Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3B, PEX % 95% Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B, PEX % 100% Peroxisome biogenesis disorder 13A (Zellweger), PEX % 84% Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder 8B, PEX % 99% Peroxisome biogenesis disorder 12A (Zellweger), PEX % 100% Peroxisome biogenesis disorder 5A (Zellweger) PEX % 100% Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX % 100% Peroxisome biogenesis disorder 10A (Zellweger), PEX % 96% Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, PEX % 85% Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, PEX % 93% Rhizomelic chondrodysplasia punctata, type 1,

90 Peroxisome biogenesis disorder 9B, PFKM % 100% Glycogen storage disease VII, PFN % 79% Amyotrophic lateral sclerosis 18, PGAM % 100% Glycogen storage disease X, PGAP % 99% Hyperphosphatasia with mental retardation syndrome 3, PGAP % 92% Hyperphosphatasia with mental retardation syndrome 4, (3) PGK % 67% Phosphoglycerate kinase 1 deficiency, PGM % 99% Glycogen storage disease XIV, Congenital disorder of glycosylation, type It, PHEX % 98% Hypophosphatemic rickets, X-linked dominant, PHF % 98% Borjeson-Forssman-Lehmann syndrome, PHF % 85% Mental retardation syndrome, X-linked, Siderius type, PHGDH % 97% Phosphoglycerate dehydrogenase deficiency, PHKA % 88% Muscle glycogenosis, PHKA % 85% Glycogen storage disease, type IXa1, Glycogen storage disease, type IXa2, PHKB % 97% Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, PHKG % 100% Glycogen storage disease IXc, Cirrhosis due to liver phosphorylase kinase deficiency PHOX2A % 64% Fibrosis of extraocular muscles, congenital, 2, PHOX2B % 96% Central hypoventilation syndrome congenital with or without Hirschsprung disease PHYH % 99% Refsum disease, PICALM % 98% Leukemia, acute myeloid, Leukemia, acute T-cell lymphoblastic PIEZO % 91% Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, PIEZO % 98%?Marden-Walker syndrome, Arthrogryposis, distal, type 3, Arthrogryposis, distal, type 5, PIGA % 98% Paroxysmal nocturnal hemoglobinuria, somatic, Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGL % 100% CHIME syndrome, PIGM % 100% Glycosylphosphatidylinositol deficiency, PIGN % 100% Multiple congenital anomalies-hypotonia-seizures syndrome 1,

91 PIGO % 99% Hyperphosphatasia with mental retardation syndrome 2, PIGV % 100% Hyperphosphatasia with mental retardation syndrome 1, PIK3CA % 90% Ovarian cancer, somatic, Breast cancer, somatic, Colorectal cancer, somatic, Gastric cancer, somatic, Hepatocellular carcinoma, somatic, Nonsmall cell lung cancer, somatic, Keratosis, sebor PIK3CD % 90% Immunodeficiency 14, PIK3R % 100% Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, PIK3R % 87% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, PIK3R % 98% Ataxia-oculomotor apraxia 3, PIKFYVE % 100% Corneal fleck dystrophy, PINK % 87% Parkinson disease 6, early onset, PIP5K1C % 83% Lethal congenital contractural syndrome 3, PITPNM % 93% Cone-rod dystrophy 5, PITX % 92% Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndrome, (4) PITX % 83% Axenfeld-Rieger syndrome, type 1, Iridogoniodysgenesis, type 2, Ring dermoid of cornea, Peters anomaly, PITX % 84% Anterior segment mesenchymal dysgenesis, Cataract 11, multiple types, Cataract 11, syndromic, PKD % 18% Polycystic kidney disease, adult type I, PKD % 92% Polycystic kidney disease 2, PKHD % 96% Polycystic kidney and hepatic disease PKLR % 97% Pyruvate kinase deficiency, Adenosine triphosphate, elevated, of erythrocytes, PKP % 86% Ectodermal dysplasia/skin fragility syndrome, PKP % 73% Arrhythmogenic right ventricular dysplasia 9, PLA2G4A % 98% Phospholipase A2, group IV A, deficiency of

92 PLA2G % 100% Fleck retina, familial benign, PLA2G % 93% Infantile neuroaxonal dystrophy 1, Neurodegeneration with brain iron accumulation 2B, Parkinson disease 14, PLA2G % 100% Platelet-activating factor acetylhydrolase deficiency, {Asthma, susceptibility to}, {Atopy, susceptibility to}, PLAG % 99% Adenomas, salivary gland pleomorphic, PLAU % 91% {Alzheimer disease, late-onset, susceptibility to}, Quebec platelet disorder, PLCB % 98% Epileptic encephalopathy, early infantile, 12, PLCB % 98% Auriculocondylar syndrome 2, PLCD % 92% Nail disorder, nonsyndromic congenital, 3, (leukonychia), PLCE % 97% Nephrotic syndrome, type 3, PLCG % 98% Familial cold autoinflammatory syndrome 3, Autoinflammation, antibody deficiency, and immune dysregulation syndrome, PLEC % 96% Epidermolysis bullosa simplex with pyloric atresia PLEKHG % 93% Spinal muscular atrophy, distal, autosomal recessive, 4, Charcot-Marie-Tooth disease, recessive intermediate C, PLEKHM % 15% Osteopetrosis, autosomal recessive 6, PLG % 70% Plasminogen Tochigi disease Thrombophilia, dysplasminogenemic (1) Plasminogen deficiency, types I and II (1) Conjunctivitis, ligneous, PLIN % 78% Lipodystrophy, familial partial, type 4, PLN % 100% Cardiomyopathy, dilated, 1P, Cardiomyopathy, familial hypertrophic, 18, PLOD % 96% Ehlers-Danlos syndrome, type VI, PLOD % 100% Bruck syndrome 2, PLOD % 85% Lysyl hydroxylase 3 deficiency, PLP % 95% Pelizaeus-Merzbacher disease, Spastic paraplegia 2, X-linked, PLS % 100% Bone mineral density QTL18, osteoporosis, PML % 97% Leukemia, acute promyelocytic, PML/RARA type PMM % 100% Congenital disorder of glycosylation, type Ia,

93 PMP % 100% Charcot-Marie-Tooth disease, type 1A, Dejerine-Sottas disease, Neuropathy, recurrent, with pressure palsies, Charcot-Marie-Tooth disease, type 1E, Roussy-Levy syndrome, Neuropathy, inflammatory demyel PMS % 55% Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis, type 4, PNKP % 99% Epileptic encephalopathy, early infantile, 10, PNP % 100% Immunodeficiency due to purine nucleoside phosphorylase deficiency, PNPLA % 100% Ichthyosis, congenital, autosomal recessive 10, PNPLA % 91% Neutral lipid storage disease with myopathy, PNPLA % 96% Spastic paraplegia 39, autosomal recessive, PNPO % 97% Pyridoxamine 5'-phosphate oxidase deficiency, PNPT % 100% Combined oxidative phosphorylation deficiency 13, Deafness, autosomal recessive 70, POC1A % 87% Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, POF1B % 90% Premature ovarian failure 2B POFUT % 100% Dowling-Degos disease 2, POGLUT % 98% Dowling-Degos disease 4, (3) POLD % 86% {Colorectal cancer, susceptibility to, 10}, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, POLE % 98% FILS syndrome POLG % 92% Progressive external ophthalmoplegia, autosomal recessive, Progressive external ophthalmoplegia, autosomal dominant, Mitochondrial DNA depletion syndrome 4B (MNGIE type), Mitochondrial DNA depletion syndrome 4A (Alpers typ POLG % 100% Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, POLH % 96% Xeroderma pigmentosum, variant type, POLR1C % 96% Treacher Collins syndrome 3, POLR1D % 100% Treacher Collins syndrome 2, POLR3A % 96% Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism,

94 POLR3B % 99% Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, POMC % 63% Obesity, adrenal insufficiency, and red hair due to POMC deficiency, {Obesity, early-onset, susceptibility to}, POMGNT % 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Muscular dystrophy-dystroglycanopathy (limb-girdle), t POMGNT % 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A 8 POMP % 100% Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, POMT % 98% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Muscular dystrophy-dystroglycanopathy (limb-girdle), t POMT % 93% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, Muscular dystrophy-dystroglycanopathy (limb-girdle), t POR % 100% Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, PORCN % 76% Focal dermal hypoplasia, POU1F % 100% Pituitary hormone deficiency, combined, 1, POU3F % 100% Deafness, X-linked 2, POU4F % 100% Deafness, autosomal dominant 15, PPARG % 96% Obesity, severe, [Obesity, resistance to] Insulin resistance, severe, digenic, Lipodystrophy, familial partial, type 3, Carotid intimal medial thickness 1,

95 {Diabetes, type 2}, PPIB % 100% Osteogenesis imperfecta, type IX, PPM1D % 99% Breast cancer, PPM1K % 94% Maple syrup urine disease, mild variant, PPOX % 97% Porphyria variegata, PPP1R3A % 100% Insulin resistance, severe, digenic, PPP2R1B % 100% Lung cancer, PPP2R2B % 85% Spinocerebellar ataxia 12, PPT % 93% Ceroid lipofuscinosis, neuronal, 1, PQBP % 99% Renpenning syndrome, PRCC % 99% Renal cell carcinoma, papillary, PRCD % 100% Retinitis pigmentosa 36, PRDM % 97% Left ventricular noncompaction 8, Cardiomyopathy, dilated, 1LL, PRDM % 100% Brittle cornea syndrome 2, PRF % 98% Hemophagocytic lymphohistiocytosis, familial, 2, Lymphoma, non-hodgkin, PRG % 85% Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, PRICKLE % 98% Epilepsy, progressive myoclonic 1B, PRICKLE % 100% Epilepsy, progressive myoclonic 5, PRIMPOL % 97% Myopia 22, autosomal dominant, (3) PRKAG % 100% Wolff-Parkinson-White syndrome, Cardiomyopathy, familial hypertrophic 6, Glycogen storage disease of heart, lethal congenital, PRKAR1A % 89% Carney complex, type 1, Myxoma, intracardiac, Thyroid carcinoma, papillary, somatic, Pigmented nodular adrenocortical disease, primary, 1, Adrenocortical tumor, somatic, Acrodysostosis 1, with or without hor

96 PRKCA % 99% Pituitary tumor, invasive PRKCG % 92% Spinocerebellar ataxia 14, PRKCSH % 96% Polycystic liver disease, PRKG % 97% Aortic aneurysm, familial thoracic 8, PRKRA % 76% Dystonia 16 PRLR % 100%?Hyperprolactinemia, Multiple fibroadenomas of the breast, PRNP % 100% Creutzfeldt-Jakob disease, Gerstmann-Straussler disease, Insomnia, fatal familial, Prion disease with protracted course, Huntington disease-like 1, {Kuru, susceptibility to}, PROC % 94% Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency, autosomal recessive, PRODH % 66% Hyperprolinemia, type I, {Schizophrenia, susceptibility to, 4}, PROK % 98% Hypogonadotropic hypogonadism 4 with or without anosmia, PROKR % 100% Hypogonadotropic hypogonadism 3 with or without anosmia, PROM % 93% Retinitis pigmentosa 41, Cone-rod dystrophy 12, Stargardt disease 4, Macular dystrophy, retinal, 2, PROP % 70% Pituitary hormone deficiency, combined, 2, PROS % 72% Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, PRPF % 100% Retinitis pigmentosa 18 PRPF % 83% Retinitis pigmentosa 11, PRPF % 99% Retinitis pigmentosa 60, PRPF % 98% Retinitis pigmentosa 13, PRPH % 100% Retinitis pigmentosa 7, Retinitis punctata albescens, Macular dystrophy, patterned, Macular dystrophy, vitelliform, Foveomacular dystrophy, adult-onset, with choroidal neovascularization, Macular dyst

97 PRPS % 97% Gout, PRPS-related, Phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease, X-linked recessive, 5, Arts syndrome, Deafness, X-linked 1, PRRT % 100% Episodic kinesigenic dyskinesia 1, Seizures, benign familial infantile, 2, Convulsions, familial infantile, with paroxysmal choreoathetosis, PRRX % 94% Agnathia-otocephaly complex, PRSS % 78% Preeclampsia/eclampsia 5, PRSS % 78% Pancreatitis, hereditary, Trypsinogen deficiency, (1) PRSS % 96% Mental retardation, autosomal recessive 1, PRSS % 85% Microphthalmia, isolated 6, PRX % 98% Dejerine-Sottas disease, autosomal recessive, Charcot-Marie-Tooth disease, type 4F, PSAP % 98% Metachromatic leukodystrophy due to SAP-b deficiency, Gaucher disease, atypical, Combined SAP deficiency, Krabbe disease, atypical, PSAT % 54% Phosphoserine aminotransferase deficiency, PSEN % 93% Alzheimer disease, type 3, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Alzheimer disease, type 3, with spastic paraparesis and apraxia, Dementia, frontotemporal, Pick disease, PSEN % 99% Alzheimer disease-4, Cardiomyopathy, dilated, 1V, PSENEN % 100% Acne inversa, familial, 2, PSMB % 11% Autoinflammation, lipodystrophy, and dermatosis syndrome, PSMC3IP % 94% Ovarian dysgenesis 3, PSTPIP % 85% Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, PTCH % 96% Basal cell nevus syndrome, Basal cell carcinoma, somatic, Holoprosencephaly-7,

98 PTCH % 94% Medulloblastoma, Basal cell carcinoma, somatic, PTDSS % 100% Lenz-Majewski hyperostotic dwarfism, PTEN % 97% Cowden syndrome 1, Lhermitte-Duclos syndrome, Bannayan-Riley-Ruvalcaba syndrome, {Meningioma}, {Glioma susceptibility 2}, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome VAT PTF1A % 58% Diabetes mellitus, permanent neonatal, with cerebellar agenesis, PTGIS % 89% Hypertension, essential, PTH % 100% Hypoparathyroidism, autosomal dominant, Hypoparathyroidism, autosomal recessive, PTH1R % 95% Chondrodysplasia Blomstrand type PTHLH % 100% Humoral hypercalcemia of malignancy (1) Brachydactyly, type E2, PTPN % 66% Noonan syndrome 1, LEOPARD syndrome 1, Leukemia, juvenile myelomonocytic, Metachondromatosis, PTPN % 100% Colon cancer PTPN % 98% Choanal atresia and lymphedema, PTPRC % 94% {Hepatitic C virus, susceptibility to}, Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, PTPRJ % 96% Colon cancer, somatic, PTPRO % 97% Nephrotic syndrome, type 6, PTPRQ % 98% Deafness, autosomal recessive 84A, PTRF % 100% Lipodystrophy, congenital generalized, type 4, PTS % 100% Hyperphenylalaninemia, BH4-deficient, A, PUF % 94% Verheij syndrome, (3) PUS % 98% Mitochondrial myopathy and sideroblastic anemia 1, PVRL % 97% Cleft lip/palate-ectodermal dysplasia syndrome PVRL % 100% Ectodermal dysplasia-syndactyly syndrome 1

99 PYCR % 96% Cutis laxa, autosomal recessive, type IIB, Cutis laxa, autosomal recessive, type IIIB, PYGL % 99% Glycogen storage disease VI, PYGM % 98% McArdle disease, QARS % 99% Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, QDPR % 98% Hyperphenylalaninemia, BH4-deficient, C, RAB % 100% Warburg micro syndrome 3, RAB % 100% Carpenter syndrome, RAB27A % 100% Griscelli syndrome, type 2, RAB % 95% Cone-rod dystrophy 18, RAB33B % 99% Smith-McCort dysplasia 2 RAB39B % 100% Mental retardation, X-linked 72, RAB3GAP % 97% Warburg micro syndrome 1, RAB3GAP % 99% Martsolf syndrome, Warburg micro syndrome 2, RAB40AL % 39% Mental retardation, X-linked, syndromic, Martin-Probst type, RAB7A % 100% Charcot-Marie-Tooth disease type 2B RAC % 94% Neutrophil immunodeficiency syndrome, RAD % 95% Cornelia de Lange syndrome 4, RAD % 99% Nijmegen breakage syndrome-like disorder, RAD % 96% Mirror movements 2 RAD51C % 100% Fanconi anemia, complementation group O, {Breast-ovarian cancer, familial, susceptibility to, 3}, RAD54B % 100% Lymphoma, non-hodgkin Colon adenocarcinoma RAD54L % 96% {Breast cancer, invasive ductal}, Lymphoma, non-hodgkin,somatic, Adenocarcinoma, colonic, somatic RAF % 100% Noonan syndrome 5, LEOPARD syndrome 2, RAG % 100% Severe combined immunodeficiency, B cell-negative, Omenn syndrome, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, Combined cellular and humoral immune

100 RAG % 100% Severe combined immunodeficiency, B cell-negative, Omenn syndrome, Combined cellular and humoral immune defects with granulomas, RAI % 99% Smith-Magenis syndrome, RAP1GDS % 99% Lymphocytic leukemia, acute T-cell RAPSN % 86% Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, Fetal akinesia deformation sequence, RARB % 98% Microphthalmia, syndromic 12, RARS % 98% Pontocerebellar hypoplasia, type 6, RASA % 99% Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Basal cell carcinoma, somatic, RAX % 99% Cone-rod dystrophy 11 RB % 98% Retinoblastoma, Osteosarcoma, somatic, Bladder cancer, somatic, Small cell cancer of the lung, somatic, Retinoblastoma, trilateral, RB1CC % 100% Breast cancer, somatic, RBBP % 100% Pancreatic carcinoma, somatic Seckel syndrome 2, Jawad syndrome, RBM % 82% TARP syndrome, RBM % 96% Cardiomyopathy, dilated, 1DD, RBM % 99% Alopecia, neurologic defects, and endocrinopathy syndrome, RBM8A % 100% Thrombocytopenia-absent radius syndrome, RBP % 90% Retinol dystrophy, iris coloboma, and comedogenic acne syndrome, RBPJ % 95% Adams-Oliver syndrome 3, RD % 100% Leber congenital amaurosis 12, RDH % 80% Leber congenital amaurosis 13, RDH % 100% Fundus albipunctatus, RDX % 81% Deafness, autosomal recessive 24,

101 RECQL % 95% Rothmund-Thomson syndrome, RAPADILINO syndrome, Baller-Gerold syndrome, REEP % 94% Spastic paraplegia 31, autosomal dominant, Neuronopathy, distal hereditary motor, type VB, RELN % 98% Lissencephaly 2 (Norman-Roberts type), REN % 100% [Hyperproreninemia] Renal tubular dysgenesis, Hyperuricemic nephropathy, familial juvenile 2, RET % 94% Multiple endocrine neoplasia IIA, Medullary thyroid carcinoma, Multiple endocrine neoplasia IIB, Central hypoventilation syndrome, congenital, Pheochromocytoma, Renal agenesis, {Hirschsprun RFT % 97% Congenital disorder of glycosylation, type In, RFX % 97% Bare lymphocyte syndrome, type II, complementation group C, Bare lymphocyte syndrome, type II, complementation group E, RFX % 100% Martinez-Frias syndrome, RFXANK % 95% MHC class II deficiency, complementation group B, RFXAP % 88% Bare lymphocyte syndrome, type II, complementation group D, RGR % 87% Retinitis pigmentosa 44, RGS % 93% Bradyopsia, RGS9BP % 94% Bradyopsia, RHAG % 100% Anemia, hemolytic, Rh-null, regulator type, Rh-mod syndrome RHBDF % 88% Tylosis with esophageal cancer, RHCE % 69% [Blood group, Rhesus], Rh-null disease, amorph type -3 RHO % 98% Retinitis pigmentosa 4, autosomal dominant or recessive, Night blindness, congenital stationary, autosomal dominant 1, Retinitis punctata albescens, RIMS % 100% Cone-rod dystrophy 7, RIN % 98% Macrocephaly, alopecia, cutis laxa, and scoliosis, RIPK % 94% Popliteal pterygium syndrome 2, lethal type,

102 RIT % 100% Noonan syndrome 8, RLBP % 98% Fundus albipunctatus, Retinitis punctata albescens, Newfoundland rod-cone dystrophy, Bothnia retinal dystrophy, RMND % 92% Combined oxidative phosphorylation deficiency 11, RMRP % 100% Anauxetic dysplasia RNASEH2A % 88% Aicardi-Goutieres syndrome 4, RNASEH2B % 100% Aicardi-Goutieres syndrome 2, RNASEH2C % 100% Aicardi-Goutieres syndrome 3, RNASEL % 96% Prostate cancer 1, RNASET % 98% Leukoencephalopathy, cystic, without megalencephaly, RNF % 85% Macrocephaly, macrosomia, facial dysmorphism syndrome, RNF % 100% Renal cell carcinoma, RNF % 100% RIDDLE syndrome, RNF % 100% Ataxia, sensory, 1, autosomal dominant, RNF % 98% Recombination rate QTL 1, RNF % 91% Cerebellar ataxia and hypogonadotropic hypogonadism, RNF % 100% Esophageal carcinoma, somatic, ROBO % 99% Vesicoureteral reflux 2, ROBO % 87% Gaze palsy, horizontal, with progressive scoliosis, ROGDI % 95% Kohlschutter-Tonz syndrome, ROM % 100% Retinitis pigmentosa 7, digenic, ROR % 95% Brachydactyly, type B1, Robinow syndrome, autosomal recessive, RP % 100% Retinitis pigmentosa 1, {Hypertriglyceridemia, susceptibility to}, RP1L % 100% Occult macular dystrophy, RP % 98% Retinitis pigmentosa 2, RPE % 98% Leber congenital amaurosis 2, Retinitis pigmentosa 20,

103 RPGR % 75% Retinitis pigmentosa 3, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, Macular degeneration, X-linked atrophic, Cone-rod dystrophy, X-linked, 1, RPGRIP % 98% Leber congenital amaurosis 6, Cone-rod dystrophy 13, RPGRIP1L % 96% Joubert syndrome 7, Meckel syndrome 5, COACH syndrome, RPIA % 95% Ribose 5-phosphate isomerase deficiency, RPL % 99% Diamond-Blackfan anemia 7, RPL35A % 56% Diamond-Blackfan anemia 5, RPL % 60% Diamond-Blackfan anemia 6, RPS % 77% Diamond-Blackfan anemia 9, RPS % 60% Macrocytic anemia, refractory, due to 5q deletion, somatic, RPS17.0 % % Diamond-Blackfan anemia 4, RPS % 42% Diamond-Blackfan anemia 1, RPS % 94% Diamond-blackfan anemia 3, RPS % 58% Diamond-Blackfan anemia 10, RPS6KA % 91% Coffin-Lowry syndrome, Mental retardation, X-linked 19, RPS % 37% Diamond-Blackfan anemia 8, RPSA % 54% Asplenia, isolated congenital RRAS % 93% Ovarian carcinoma RRM2B % 100% Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, Mitochondrial DNA depletion syndrome 8B (MNGIE ty RS % 82% 25cM from XG Retinoschisis, RSPH % 98% Ciliary dyskinesia, primary, 24, RSPH4A % 100% Ciliary dyskinesia, primary, 11, RSPH % 97% Ciliary dyskinesia, primary, 12, RSPO % 74% Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal,

104 Palmoplantar hyperkeratosis and true hermaphroditism, RSPO % 100% Anonychia congenita, RTEL % 96% Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita, autosomal dominant 4, RTN % 95% Spastic paraplegia 12, autosomal dominant, RTTN % 98% Polymicrogyria with seizures, RUNX % 91% Leukemia, acute myeloid, Platelet disorder, familial, with associated myeloid malignancy, RUNX % 100% Cleidocranial dysplasia, Cleidocranial dysplasia, forme fruste, with brachydactyly, Cleidocranial dysplasia, forme fruste, dental anomalies only, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyl RXFP % 100% Cryptorchidism RYR % 92% {Malignant hyperthermia susceptibility 1}, Central core disease, Minicore myopathy with external ophthalmoplegia, Neuromuscular disease, congenital, with uniform type 1 fiber, King- Denborough syndrome, RYR % 99% Ventricular tachycardia, catecholaminergic polymorphic, 1, Arrhythmogenic right ventricular dysplasia 2, SACS % 100% Spastic ataxia, Charlevoix-Saguenay type, SAG % 100% Oguchi disease-1, Retinitis pigmentosa 47, SALL % 98% Townes-Brocks syndrome, Townes-Brocks branchiootorenal-like syndrome, SALL % 95% Duane-radial ray syndrome, IVIC syndrome, SAMD % 100% Tumoral calcinosis, familial, normophosphatemic, SAMHD % 99% Aicardi-Goutieres syndrome 5, Chilblain lupus 2, SAR1B % 100% Chylomicron retention disease, SARS % 91% Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, SART % 98% Porokeratosis, disseminated superficial actinic, 1,

105 SAT % 96% Keratosis follicularis spinulosa decalvans, SATB % 94% Cleft palate and mental retardation, SBDS % 97% Shwachman-Bodian-Diamond syndrome SBF % 97% Charcot-Marie-Tooth disease, type 4B2, SC5D % 100% Lathosterolosis SCARB % 95% Epilepsy, progressive myoclonic 4, with or without renal failure, SCARF % 89% Van den Ende-Gupta syndrome, SCN10A % 98% Episodic pain syndrome, familial, 2, SCN11A % 98% Episodic pain syndrome, familial, 3, Neuropathy, hereditary sensory and autonomic, type VII, SCN1A % 98% Epilepsy, generalized, with febrile seizures plus, type 2, Dravet syndrome, Migraine, familial hemiplegic, 3, Febrile seizures, familial, 3A, SCN1B % 96% Epilepsy, generalized, with febrile seizures plus, type 1, Brugada syndrome 5, Cardiac conduction defect, nonspecific, Atrial fibrillation, familial, 13, SCN2A % 98% Seizures, benign familial infantile, 3, Epileptic encephalopathy, early infantile, 11, SCN2B % 99% Atrial fibrillation, familial, 14, SCN3B % 100% Brugada syndrome 7, SCN4A % 99% Hyperkalemic periodic paralysis, type 2, Paramyotonia congenita, Myotonia congenita, atypical, acetazolamide-responsive, Myasthenic syndrome, acetazolamide-responsive, Hypokalemic periodic paralysis, type 2, 613 SCN4B % 98% Long QT syndrome-10, SCN5A % 99% Long QT syndrome-3, Brugada syndrome 1, Heart block, progressive, type IA, Heart block, nonprogressive, Ventricular fibrillation, familial, 1, Sick sinus syndrome 1, Cardiomyopathy, dilated SCN8A % 99% Cognitive impairment with or without cerebellar ataxia, Epileptic encephalopathy, early infantile, 13,

106 SCN9A % 99% Erythermalgia, primary, Insensitivity to pain, channelopathy-associated, Paroxysmal extreme pain disorder, Febrile seizures, familial, 3B, Epilepsy, generalized, with febrile seizures plus, type 7, Sm SCNN1A % 93% Pseudohypoaldosteronism, type I, Bronchiectasis with or without elevated sweat chloride 2, SCNN1B % 96% Liddle syndrome, Pseudohypoaldosteronism, type I, Bronchiectasis with or without elevated sweat chloride 1, SCNN1G % 99% Liddle syndrome, Pseudohypoaldosteronism, type I, Bronchiectasis with or without elevated sweat chloride 3, SCO % 95% Hepatic failure early onset SCO % 100% Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Myopia 6, SCP % 97% Leukoencephalopathy with dystonia and motor neuropathy, SDCCAG % 100% Senior-Loken syndrome 7, SDHA % 16% Leigh syndrome, Mitochondrial respiratory chain complex II deficiency, Cardiomyopathy, dilated, 1GG, Paragangliomas 5, SDHAF % 93% Mitochondrial complex II deficiency, SDHAF % 100% Paragangliomas 2, SDHB % 100% Pheochromocytoma, Paraganglioma and gastric stromal sarcoma, Cowden syndrome 2, Gastrointestinal stromal tumor, SDHC % 33% Paragangliomas 3, Paraganglioma and gastric stromal sarcoma, Gastrointestinal stromal tumor,

107 SDHD % 16% Paragangliomas 1, with or without deafness, Pheochromocytoma, Carcinoid tumors, intestinal, Merkel cell carcinoma, somatic Paraganglioma and gastric stromal sarcoma, Cowden syndrome 3, SEC23A % 100% Craniolenticulosutural dysplasia, SEC23B % 100% Anemia, dyserythropoietic congenital, type II, SEC % 91% Polycystic liver disease, SECISBP % 99% Thyroid hormone metabolism, abnormal, SEMA3E % 100% CHARGE syndrome, SEMA4A % 96% Retinitis pigmentosa 35, Cone-rod dystrophy 10, SEPN % 79% Muscular dystrophy, rigid spine, 1, Myopathy, congenital, with fiber-type disproportion, SEPSECS % 90% Pontocerebellar hypoplasia type 2D SEPT % 98% Spermatogenic failure 10 SEPT % 88% Amyotrophy hereditary neuralgic SERAC % 100% 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, SERPINA % 100% Emphysema due to AAT deficiency, Emphysema-cirrhosis, due to AAT deficiency, Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh, {Pulmonary disease, chronic obstructive, susceptibility to}, (1) SERPINA % 98% Cerebrovascular disease, occlusive SERPINA % 100% Corticosteroid-binding globulin deficiency SERPINA % 99% Thyroxine-binding globulin deficiency SERPINB % 93% Deafness, autosomal recessive 91, SERPINB % 100% Palmoplantar keratoderma, Nagashima type, SERPINC % 100% Thrombophilia due to antithrombin III deficiency,

108 SERPIND % 97% Thrombophilia due to heparin cofactor II deficiency SERPINE % 90% Plasminogen activator inhibitor-1 deficiency SERPINF % 84% Osteogenesis imperfecta, type VI, SERPINF % 99% Alpha-2-plasmin inhibitor deficiency SERPING % 95% Angioedema hereditary types I and II SERPINH % 100% {Preterm premature rupture of the membranes, susceptibility to}, Osteogenesis imperfecta, type X, SERPINI % 90% Encephalopathy, familial, with neuroserpin inclusion bodies, SETBP % 96% Schinzel-Giedion midface retraction syndrome, SETD % 98% Mental retardation, autosomal dominant 23, (3) SETX % 100% Ataxia-ocular apraxia-2, Amyotrophic lateral sclerosis 4, juvenile, SF3B % 99% Myelodysplastic syndrome, somatic, SF3B % 99% Acrofacial dysostosis 1, Nager type, SFTPA % 44% contiguous with SFTPA1 Pulmonary fibrosis, idiopathic, SFTPB % 86% Surfactant metabolism dysfunction, pulmonary, 1, SFTPC % 99% Surfactant metabolism dysfunction, pulmonary, 2, SFXN % 100% Combined oxidative phosphorylation deficiency 18, (3) SGCA % 81% Muscular dystrophy, limb-girdle, type 2D, SGCB % 96% Muscular dystrophy, limb-girdle, type 2E, SGCD % 100% Muscular dystrophy, limb-girdle, type 2F, Cardiomyopathy, dilated, 1L, SGCE % 94% Dystonia-11, myoclonic, SGCG % 100% Muscular dystrophy, limb-girdle, type 2C, SGSH % 94% Mucopolysaccharidisis type IIIA (Sanfilippo A), SH2B % 94% Myelofibrosis, somatic, Thrombocythemia, somatic, Erythrocytosis, somatic, SH2D1A % 83% Lymphoproliferative syndrome, X-linked, SH3BP % 87% Cherubism, SH3PXD2B % 96% Frank-ter Haar syndrome,

109 SH3TC % 96% Charcot-Marie-Tooth disease, type 4C, Mononeuropathy of the median nerve, mild, SHANK % 77% Phelan-McDermid syndrome, {Schizophrenia 15}, SHH % 85% Holoprosencephaly-3, Single median maxillary central incisor, Microphthalmia with coloboma 5, Schizencephaly, SHOC % 99% Noonan-like syndrome with loose anagen hair, SHOX.6 % % Short stature, idiopathic familial, Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, SHROOM % 94% Stocco dos Santos X-linked mental retardation syndrome, SI % 99% Sucrase-isomaltase deficiency, congenital, SIGMAR % 99% Amyotrophic lateral sclerosis 16, juvenile, SIL % 93% Marinesco-Sjogren syndrome, SIM % 98% Obesity, severe, SIX % 100% Brachiootic syndrome 3, Deafness, autosomal dominant 23, SIX % 100% Holoprosencephaly-2, Schizensephaly, SIX % 81% Branchiootorenal syndrome 2, SIX % 97% Microphthalmia with cataract 2, SKI % 79% Shprintzen-Goldberg syndrome, SKIV2L % 39% Trichohepatoenteric syndrome 2, SLC10A % 100% Bile acid malabsorption, primary, SLC11A % 97% Anemia hypochromic microcytic SLC12A % 100% Bartter syndrome, type 1, SLC12A % 97% Gitelman syndrome, SLC12A % 99% Agenesis of the corpus callosum with peripheral neuropathy, SLC16A % 99% Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, 7, SLC16A % 95% Cataract, juvenile, with microcornea and glucosuria, SLC16A % 92% Allan-Herndon-Dudley syndrome,

110 SLC17A % 99% Salla disease, Sialic acid storage disorder, infantile, SLC17A % 100% Deafness, autosomal dominant 25, SLC19A % 100% Thiamine-responsive megaloblastic anemia syndrome, SLC19A % 100% Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), SLC1A % 100% Episodic ataxia, type 6, SLC20A % 96% Basal ganglia cancification, idiopathic, 3, SLC22A % 92% Hypouricemia, renal, SLC22A % 99% Breast cancer somatic SLC22A % 99% Carnitine deficiency, systemic primary, SLC24A % 98% Night blindness, congenital stationary (complete), 1D, autosomal recessive, SLC24A % 96% [Skin/hair/eye pigmentation 4, fair/dark skin], Albinism, oculocutaneous, type VI, SLC25A % 82% No OMIM phenotype SLC25A % 100% Hypomyelination, global cerebral, SLC25A % 99% Citrullinemia, adult-onset type II, Citrullinemia, type II, neonatal-onset, SLC25A % 83% Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, SLC25A % 97% Microcephaly, Amish type, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), SLC25A % 100% Carnitine-acylcarnitine translocase deficiency, SLC25A % 92% Epileptic encephalopathy, early infantile, 3, SLC25A % 100% Mitochondrial phosphate carrier deficiency, SLC25A % 96% Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, SLC25A % 98% Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type),

111 SLC26A % 100% Diastrophic dysplasia, Atelosteogenesis II, Achondrogenesis Ib, Epiphyseal dysplasia, multiple, 4, Diastrophic dysplasia, broad bone-platyspondylic variant, De la Chapelle dysplasia, SLC26A % 98%?Colon cancer (1) Chloride diarrhea, congenital, Finnish type, SLC26A % 95% Pendred syndrome, Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, SLC26A % 99% Deafness, autosomal recessive 61, SLC26A % 97% Spermatogenic failure 3, SLC27A % 86% Ichthyosis prematurity syndrome, SLC29A % 99% Histiocytosis-lymphadenopathy plus syndrome, SLC2A % 100% GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, {Epilepsy, idiopathic generalized, suscpetibility to, 12}, Dystonia 9, SLC2A % 98% Arterial tortuosity syndrome, SLC2A % 100% {Diabetes mellitus, noninsulin-dependent} Fanconi-Bickel syndrome, SLC2A % 94% {Uric acid concentration, serum, QTL 2}, Hypouricemia, renal, 2, SLC30A % 100% Hypermanganesemia with dystonia, polycythemia, and cirrhosis, SLC30A % 97% Zinc deficiency, transient neonatal, SLC33A % 100% Spastic paraplegia 42, autosomal dominant, Congenital cataracts, hearing loss, and neurodegeneration, SLC34A % 96% Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Fanconi renotubular syndrome 2, SLC34A % 100% Pulmonary alveolar microlithiasis, ?Testicular microlithiasis, SLC34A % 90% Hypophosphatemic rickets with hypercalciuria, SLC35A % 100% Congenital disorder of glycosylation, type IIf, SLC35A % 96% Congenital disorder of glycosylation, type IIm, SLC35C % 100% Congenital disorder of glycosylation, type IIc,

112 SLC35D % 100% Schneckenbecken dysplasia, SLC36A % 100% Iminoglycinuria, digenic, Hyperglycinuria, SLC37A % 97% Glycogen storage disease Ib, Glycogen storage disease Ic, SLC38A % 86% Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, (3) SLC39A % 98% Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, SLC39A % 98% Acrodermatitis enteropathica, SLC3A % 100% Cystinuria, SLC40A % 97% Hemochromatosis, type 4, SLC45A % 92% Albinism, oculocutaneous, type IV, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes], SLC46A % 98% Folate malabsorption, hereditary, SLC4A % 96% Ovalocytosis Spherocytosis, type 4, [Malaria, resistance to], Renal tubular acidosis, distal, AD, Renal tubular acidosis, distal, AR, [Blood group, Diego], [Blood group, Waldner], [Bloo SLC4A % 98% Corneal endothelial dystrophy 2, autosomal recessive, Corneal endothelial dystrophy and perceptive deafness, Corneal dystrophy, Fuchs endothelial, 4, SLC4A % 100% Renal tubular acidosis, proximal, with ocular abnormalities, SLC52A % 100% Riboflavin deficiency, SLC52A % 100% Brown-Vialetto-Van Laere syndrome 2, SLC52A % 95% Brown-Vialetto-Van Laere syndrome 1, Fazio-Londe disease, SLC5A % 99% Glucose/galactose malabsorption, SLC5A % 95% Renal glucosuria, SLC5A % 92% Thyroid dyshormonogenesis 1, SLC5A % 100% Neuronopathy, distal hereditary motor, type VIIA,

113 SLC6A % 95% Hartnup disorder, Iminoglycinuria, digenic, Hyperglycinuria, SLC6A % 100% Orthostatic intolerance SLC6A % 89% Hyperglycinuria, Iminoglycinuria, digenic, SLC6A % 100% {Nicotine dependence, protection against}, Parkinsonism-dystonia, infantile, SLC6A % 99% Hyperekplexia 3, SLC6A % 5% Cerebral creatine deficiency syndrome 1, SLC7A % 99% Retinitis pigmentosa 68, (3) SLC7A % 100% Lysinuric protein intolerance, SLC7A % 96% Cystinuria, SLC9A3R % 95% Nephrolithiasis/osteoporosis, hypophosphatemic, 2, SLC9A % 91% Mental retardation, X-linked syndromic, Christianson type, SLCO1B % 99% Hyperbilirubinemia, Rotor type, digenic, SLCO1B % 97% Hyperbilirubinemia, Rotor type, digenic, SLCO2A % 98% Hypertrophic osteoarthropathy, primary, autosomal recessive 2, SLITRK % 100% Tourette syndrome, Trichotillomania, SLITRK % 100% Deafness and myopia, SLURP % 75% Meleda disease, SLX % 94% Fanconi anemia, complementation group P, SMAD % 90% Loeys-Dietz syndrome, type 3, SMAD % 99% Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD % 67% Aortic valve disease 2, SMAD % 100% Pulmonary hypertension primary 2 SMARCA % 94% Nicolaides-Baraitser syndrome, SMARCA % 92% Rhabdoid tumor predisposition syndrome 2, Mental retardation, autosomal dominant 16, SMARCAD % 100% Adermatoglyphia, SMARCAL % 96% Schimke immunoosseous dysplasia,

114 SMARCB % 100% Rhabdoid tumors, somatic, Rhabdoid predisposition syndrome 1, Mental retardation, autosomal dominant 15, SMC1A % 88% Cornelia de Lange syndrome 2 SMC % 98% Cornelia de Lange syndrome 3 SMCHD % 99% Fascioscapulohumeral muscular dystrophy 2, digenic, SMN % % Spinal muscular atrophy-1, Spinal muscular atrophy-2, Spinal muscular atrophy-3, Spinal muscular atrophy-4, SMO % 97% Basal cell carcinoma SMOC % 96% Microphthalmia with limb anomalies, SMOC % 86% Dentin dysplasia, type I, with microdontia and misshapen teeth, SMPD % 91% Niemann-Pick disease, type A, Niemann-Pick disease, type B, SMPX % 89% Deafness, X-linked 4, SMS % 29% Mental retardation, X-linked, Snyder-Robinson type, SNAI % 100% Waardenburg syndrome, type 2D, Piebaldism, SNAP % 100% Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, SNCA % 100% Parkinson disease 4, Dementia, Lewy body, Parkinson disease 1, SNCB % 100% Dementia, Lewy body, SNIP % 99% Psychomotor retardation, epilepsy, and craniofacial dysmorphism, SNRNP % 98% Retinitis pigmentosa 33, SNRPE % 77% Hypotrichosis 11, SNRPN % 80% Prader-Willi syndrome, SNTA % 84% Long QT syndrome 12 SNX % 100% Osteopetrosis, autosomal recessive 8, SOBP % 94% Mental retardation, anterior maxillary protrusion, and strabismus, SOD % 100% Amyotrophic lateral sclerosis 1, SOS % 100% Fibromatosis, gingival, Noonan syndrome 4,

115 SOST % 100% Sclerosteosis, Van Buchem disease, Craniodiaphyseal dysplasia, autosomal dominant, SOX % 100% Waardenburg syndrome, type 4C, Waardenburg syndrome, type 2E, with or without neurologic involvement, PCWH syndrome, SOX % 100% Vesicoureteral reflux 3, SOX % 55% Hypotrichosis-lymphedema-telangiectasia syndrome, SOX % 100% Microphthalmia, syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system, SOX % 84% Mental retardation, X-linked, with isolated growth hormone deficiency, Panhypopituitarism, X-linked, SOX % 100% Campomelic dysplasia with autosomal sex reversal, Acampomelic campomelic dysplasia, Campomelic dysplasia, SP % 100% Hepatic venoocclusive disease with immunodeficiency, {Mycobacterium tuberculosis, susceptibility to}, SP % 100% Osteogenesis imperfecta, type XII, SPAG % 97% Ciliary dyskinesia, primary, 28, SPAST % 100% Spastic paraplegia 4, autosomal dominant, SPATA % 95% Spermatogenic failure 6, SPATA % 100% Leber congenital amaurosis 3, Retinitis pigmentosa, juvenile, autosomal recessive, SPECC1L % 98% Facial clefting, oblique, 1, SPG % 99% Spastic paraplegia 11, autosomal recessive, SPG % 100% Troyer syndrome, SPG % 100% Mast syndrome SPG % 87% Spastic paraplegia 7 autosomal recessive SPINK % 89% Pancreatitis, hereditary, {Fibrocalculous pancreatic diabetes, susceptibility to}, Tropical calcific pancreatitis, SPINK % 97% Netherton syndrome, Atopy, SPINT % 59% Diarrhea 3, secretory sodium, congenital, syndromic,

116 SPR % 99% Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, SPRED % 100% Legius syndrome, SPRY % 100% Hypogonadotropic hypogonadism 17 with or without anosmia, SPTA % 98% Elliptocytosis-2, Pyropoikilocytosis, Spherocytosis, type 3, SPTAN % 98% Epileptic encephalopathy, early infantile, 5, SPTB % 99% Elliptocytosis-3 Spherocytosis, type 2 Anemia, neonatal hemolytic, fatal and near-fatal SPTBN % 97% Spinocerebellar ataxia 5, Spinocerebellar ataxia, autosomal recessive 14, SPTLC % 90% Neuropathy, hereditary sensory and autonomic, type IA, SPTLC % 100% Neuropathy, hereditary sensory and autonomic, type IC, SQSTM % 98% Paget disease of bone, SRC % 85%?Colon cancer, advanced SRCAP % 99% Floating-Harbor syndrome, SRD5A % 100% Pseudovaginal perineoscrotal hypospadias, SRD5A % 100% Congenital disorder of glycosylation, type Iq, Kahrizi syndrome, SRP % 97% Bone marrow failure, familial, SRPX % 82% Rolandic epilepsy, mental retardation, and speech dyspraxia, SRY % 98% 46XY sex reversal 1, XX sex reversal 1, SSTR % 91% Somatostatin analog, resistance to, ST % 94% Ichthyosis with hypotrichosis, ST3GAL % 100% Mental retardation, autosomal recessive 12, Epileptic encephalopathy, early infantile, 15, ST3GAL % 93% Amish infantile epilepsy syndrome STAC % 100% Native American myopathy, (3) STAMBP % 100% Microcephaly-capillary malformation syndrome, STAR % 100% Lipoid adrenal hyperplasia, STAT % 99% Mycobacterial infection, atypical, familial disseminated, Mycobacterial and viral infections, susceptibility to, autosomal recessive, Candidiasis, familial, 7,

117 STAT % 93% Hyper-IgE recurrent infection syndrome, STAT5B % 74% Leukemia, acute promyelocytic, STAT5B/RARA type Growth hormone insensitivity with immunodeficiency, STIL % 100% Microcephaly 7, primary, autosomal recessive, STIM % 90% Immunodeficiency 10, Myopathy, tubular aggregate, STK % 90% Peutz-Jeghers syndrome, Melanoma, malignant, somatic Pancreatic cancer, Testicular tumor, somatic, STK % 100% T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, STOX % 89% Preeclampsia/eclampsia 4, STRA % 96% Microphthalmia, syndromic 9, Microphthalmia, isolated, with coloboma 8, STRADA % 95% Polyhydramnios, megalencephaly, and symptomatic epilepsy, STRC % 15% Deafness, autosomal recessive 16, STS % 92% nonlyonizing Ichthyosis, X-linked, STX % 100% Hemophagocytic lymphohistiocytosis, familial, 4, STX % 100% Pseudohypoparathyroidism, type IB, STXBP % 100% Epileptic encephalopathy, early infantile, 4, (2) STXBP % 96% Hemophagocytic lymphohistiocytosis, familial, 5, SUCLA % 91% Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), SUCLG % 91% Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), SUFU % 84% Medulloblastoma, desmoplastic, {Meningioma, familial, susceptibility to}, SUMF % 95% Multiple sulfatase deficiency, SUMO % 66% Orofacial cleft 10, SUOX % 100% Sulfite oxidase deficiency, SURF % 88% Leigh syndrome, due to COX deficiency, SYCP % 100% Spermatogenic failure 4, {Pregnancy loss, susceptibility to} SYN % 52% Epilepsy, X-linked, with variable learning disabilities and behavior disorders,

118 SYNE % 97% Spinocerebellar ataxia, autosomal recessive 8, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, SYNE % 98% Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE % 100% Deafness, autosomal recessive 76, (3) SYNGAP % 77% Mental retardation, autosomal dominant 5, SYNJ % 97% Parkinson disease 20, early-onset, SYP % 92% Mental retardation, X-linked 96, SYT % 94% Spinocerebellar ataxia, autosomal recessive 11, SZT % 95% Epileptic encephalopathy, early infantile, 18, T % 96% {Neural tube defects, susceptibility to}, TAB % 100% Congenital heart defects, nonsyndromic, 2, TAC % 100% Hypogonadotropic hypogonadism 10 with or without anosmia, TACR % 100% Hypogonadotropic hypogonadism 11 with or without anosmia, TACSTD % 97% Corneal dystrophy, gelatinous drop-like, TAF % 99% SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, TAF % 100% Mental retardation, autosomal recessive 40 TAL % 81% Leukemia-1, T-cell acute lymphocytic TAL % 100% Leukemia-2, T-cell acute lymphoblastic TALDO % 100% Transaldolase deficiency, TAP % 21% Bare lymphocyte syndrome, type I, TAP % 17% Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Wegener-like granulomatosis TAPBP % 42% Bare lymphocyte syndrome, type I, TARDBP % 33% Amyotrophic lateral sclerosis 10, with or without FTD, Frontotemporal lobar degeneration, TARDBP-related, TAT % 100% Tyrosinemia, type II, TAZ % 98% Barth syndrome, TBC1D % 91% Warburg micro syndrome 4, TBC1D % 100% Myoclonic epilepsy, infantile, familial, Epileptic encephalopathy, early infantile, 16, TBCE % 100% Kenny-Caffey syndrome-1, Hypoparathyroidism-retardation-dysmorphism syndrome, TBP % 99% Spinocerebellar ataxia 17, {Parkinson disease, susceptibility to},

119 TBX % 72% Conotruncal anomaly face syndrome, DiGeorge syndrome, Velocardiofacial syndrome, Tetralogy of Fallot, TBX % 96% Cousin syndrome, TBX % 99% Adrenocorticotropic hormone deficiency, TBX % 66% Atrial septal defect 4, TBX % 84% {Asthma, aspirin-induced, susceptibility to}, Asthma and nasal polyps, TBX % 93% Cleft palate with ankyloglossia, ?Abruzzo-Erickson syndrome, TBX % 95% Ulnar-mammary syndrome, TBX % 90% Small patella syndrome, TBX % 97% Holt-Oram syndrome, TBXAS % 99% Ghosal hematodiaphyseal syndrome, ?Thromboxane synthase deficiency, (1) TCAP % 48% Muscular dystrophy, limb-girdle, type 2G, Cardiomyopathy, dilated, 1N, TCF % 100% Craniosynostosis 3, TCF % 97% Pitt-Hopkins syndrome, TCIRG % 85% Osteopetrosis, autosomal recessive 1, TCN % 97% Transcobalamin II deficiency, TCOF % 96% Treacher Collins syndrome 1, TCTN % 94% Joubert syndrome 13 TCTN % 98% Meckel syndrome 8, TCTN % 99% Orofaciodigital syndrome IV, Joubert syndrome 18, TDGF % 99% Forebrain defects TDP % 100% Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, TDRD % 100% Cataract 36, TEAD % 99% Sveinsson choreoretinal atrophy, TECPR % 99% Spastic paraplegia 49, autosomal recessive, TECR % 89% Mental retardation, autosomal recessive 14, TECTA % 98% Deafness, autosomal dominant 8/12, Deafness, autosomal recessive 21,

120 TEK % 99% Venous malformations, multiple cutaneous and mucosal, TENM % 99% Microphthalmia isolated with coloboma 9 TET % 99% Myelodysplastic syndrome, somatic, TEX28.3 % % No OMIM phenotype Mental retardation, x-linked 99 Blue cone monochromacy Achromatopsia Colorblindness TF % 97% Atransferrinemia, TFAP2A % 88% Branchiooculofacial syndrome, TFAP2B % 100% Char syndrome, TFE % 74% Renal cell carcinoma, papillary, 1, TFG % 97% Hereditary motor and sensory neuropathy, proximal type, Chondrosarcoma, extraskeletal myxoid, (1) TFR % 94% Hemochromatosis, type 3, TG % 98% Thyroid dyshormonogenesis 3, {Autoimmune thyroid disease, susceptibility to, 3}, TGFB % 84% Camurati-Engelmann disease, {Cystic fibrosis lung disease, modifier of}, TGFB % 98% Loeys-Dietz syndrome, type 4, TGFB % 100% Arrhythmogenic right ventricular dysplasia 1, TGFBI % 100% Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, Reis-Bucklers type, Corneal dystrophy, Avellino type, Corneal dystrophy, lattice type IIIA, Corneal dystrophy, TGFBR % 94% Loeys-Dietz syndrome, type 1A, Loeys-Dietz syndrome, type 2A, {Multiple self-healing squamous epithelioma, susceptiblity to}, TGFBR % 100% Colorectal cancer, hereditary nonpolyposis, type 6, Esophageal cancer, somatic, Loeys-Dietz syndrome, type 1B, Loeys-Dietz syndrome, type 2B, TGIF % 99% Holoprosencephaly-4 TGM % 95% Ichthyosis, congenital, autosomal recessive 1, TGM % 100% Peeling skin syndrome, acral type,

121 TGM % 86% Spinocerebellar ataxia 35, TH % 83% Segawa syndrome, recessive, THAP % 100% Dystonia 6, torsion, THBD % 100% Thrombophilia due to thrombomodulin defect, {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, THOC % 98% Beaulieu-Boycott-Innes syndrome, THPO % 89% Thrombocythemia 1, THRA % 100% Hypothyroidism, congenital, nongoitrous, 6, THRB % 100% Thyroid hormone resistance, Thyroid hormone resistance, autosomal recessive, Thyroid hormone resistance, selective pituitary, TIA % 100% Welander distal myopathy, TIMM8A % 67% Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome, Jensen syndrome, TIMP % 100% Sorsby fundus dystrophy, TINF % 100% Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome, TJP % 97% Hypercholanemia, familial, TK % 100% Mitochondrial DNA depletion syndrome 2 (myopathic type), TLL % 100% Atrial septal defect 6, TLR % 99% Endotoxin hyporesponsiveness {Macular degeneration, age-related, 10}, {Colorectal cancer, susceptibility to}, TMC % 100% Deafness, autosomal recessive 7, Deafness, autosomal dominant 36, TMC % 93% Epidermodysplasia verruciformis, TMC % 98% Epidermodysplasia verruciformis, TMCO % 98% Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, TMEM126A % 99% Optic atrophy-7, TMEM % 100% Joubert syndrome 16, TMEM % 100% Congenital disorder of glycosylation, type IIk, TMEM % 78% Joubert syndrome 2, Meckel syndrome 2,

122 TMEM % 90% Joubert syndrome 20, Meckel syndrome, type 11, TMEM % 94% Joubert syndrome 14, TMEM38B % 98% Osteogenesis imperfecta, type XIV, TMEM % 98% Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, AD, TMEM % 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, TMEM % 99% Meckel syndrome 3, Joubert syndrome 6, {Bardet-Biedl syndrome 14, modifier of}, COACH syndrome, Nephronophthisis 11, TMEM % 100% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, TMIE % 87% Deafness, autosomal recessive 6, TMLHE % 77% Epsilon-trimethyllysine hydroxylase deficiency, TMPRSS % 99% Enterokinase deficiency TMPRSS % 96% Deafness, autosomal recessive 8/10, TMPRSS % 92% Iron-refractory iron deficiency anemia, TNC % 99% Deafness, autosomal dominant 56, TNFRSF10B % 99% Squamous cell carcinoma, head and neck, TNFRSF11A % 94% Osteolysis, familial expansile, Paget disease of bone, Osteopetrosis, autosomal recessive 7, TNFRSF11B % 100% Paget disease, juvenile, TNFRSF13B % 92% Immunoglobulin A deficiency 2, Immunodeficiency, common variable, 2, TNFRSF13C % 73% Immunodeficiency, common variable, 4, TNFRSF1A % 91% Periodic fever, familial, {Multiple sclerosis, susceptibility to, 5},

123 TNFSF % 100% Osteopetrosis, autosomal recessive 2, TNNC % 100% Cardiomyopathy, dilated, 1Z, Cardiomyopathy, familial hypertrophic, 13, TNNI % 98% Arthrogryposis multiplex congenita, distal, type 2B, TNNI % 92% Cardiomyopathy, familial hypertrophic, 7, Cardiomyopathy, familial restrictive, Cardiomyopathy, dilated, 2A, Cardiomyopathy, dilated, 1FF, TNNT % 93% Nemaline myopathy 5, Amish type, TNNT % 96% Cardiomyopathy, familial hypertrophic, 2, Cardiomyopathy, dilated, 1D, Cardiomyopathy, familial restrictive, 3, Left ventricular noncompaction 6, TNNT % 90% Arthyrgryposis, distal, type 2B, TNXB % 9% Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency, Ehlers-Danlos syndrome, autosomal dominant, hypermobility type, TOP % 96% DNA topoisomerase I, camptothecin-resistant TOP2A % 95% DNA topoisomerase II, resistance to inhibition of, by amsacrine TOPORS % 100% Retinitis pigmentosa 31, TP % 99% Colorectal cancer, Li-Fraumeni syndrome, Hepatocellular carcinoma, Osteosarcoma, Choroid plexus papilloma, Nasopharyngeal carcinoma, Pancreatic cancer, Adrenal cortical carcinoma TP % 100% Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Split-hand/foot malformation 4, Hay-Wells syndrome, ADULT syndrome, Limb-mammary syndrome, Rapp-Hodgkin syndrome, Orofac TPI % 97% Hemolytic anemia due to triosephosphate isomerase deficiency

124 TPK % 100% Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), TPM % 97% Cardiomyopathy, familial hypertrophic, 3, Cardiomyopathy, dilated, 1Y, Left ventricular noncompaction 9, TPM % 100% Arthrogryposis multiplex congenita, distal, type 1, Arthrogryposis, distal, type 2B, Nemaline myopathy 4, autosomal dominant, CAP myopathy 2, TPM % 80% Nemaline myopathy 1, autosomal dominant or recessive, CAP myopathy 1, Myopathy congenital, with fiber-type disproportion, TPMT % 100% 6-mercaptopurine sensitivity, TPO % 95% Thyroid dyshormonogenesis 2A, TPP % 100% Ceroid lipofuscinosis, neuronal, 2, TPRN % 78% Deafness, autosomal recessive 79, TRAPPC % 99% Muscular dystrophy, limb-girdle, type 2S, TRAPPC % 49% Spondyloepiphyseal dysplasia tarda, TRAPPC % 91% Mental retardation, autosomal recessive 13, TRDN % 94% Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, TREM % 100% Nasu-Hakola disease, TREX % 100% Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy, {Systemic lupus erythematosus, susceptibility to}, TRHR % 100% Thyrotropin-releasing hormone resistance, generalized TRIM % 98% Thyroid carcinoma, papillary, TRIM % 100% Muscular dystrophy, limb-girdle, type 2H, Bardet-Biedl syndrome 11, TRIM % 88% Thyroid carcinoma, papillary, TRIM % 98% Mulibrey nanism, TRIOBP % 91% Deafness, autosomal recessive 28, TRIP % 98% Achondrogenesis, type IA, TRMU % 99% {Deafness, mitochondrial, modifier of}, Liver failure, transient infantile,

125 TRPA % 79% Episodic pain syndrome, familial, TRPC % 89% Glomerulosclerosis, focal segmental, 2, TRPM % 98% Night blindness, congenital stationary (complete), 1C, autosomal recessive, TRPM % 99% Progressive familial heart block, type IB, TRPM % 98% Hypomagnesemia 1, intestinal, TRPS % 100% Trichorhinophalangeal syndrome, type I, Trichorhinophalangeal syndrome, type III, TRPV % 94% Olmsted syndrome, TRPV % 99% Brachyolmia type 3, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Hereditary motor and sensory neuropathy, type IIc, Scapuloperoneal spinal muscular atrophy, [Sodium serum level TSC % 97% Otosclerosis 1 (2) TSC % 97% Tuberous sclerosis-1, Lymphangioleiomyomatosis, Focal cortical dysplasia, Taylor balloon cell type, TSC % 95% distal to PKD1 Tuberous sclerosis-2, Lymphangioleiomyomatosis, somatic, TSEN % 100% Pontocerebellar hypoplasia type 2B, TSEN % 93% Pontocerebellar hypoplasia type 2C, TSEN % 96% Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4, TSFM % 94% Combined oxidative phosphorylation deficiency 3, TSG % 100% Breast cancer, somatic, TSHB % 100% Hypothryoidism, congenital, nongoitrous 4, TSHR % 98% Hypothyroidism, congenital, nongoitrous, Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune, Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational, TSHZ % 98% Aural atresia, congenital, TSPAN % 100% Exudative vitreoretinopathy 5, TSPAN % 71% Mental retardation, X-linked 58, TSPEAR % 99% Deafness, autosomal recessive 98,

126 TSPYL % 100% Sudden infant death with dysgenesis of the testes syndrome, TTBK % 100% Spinocerebellar ataxia 11, TTC % 77% Mitochondrial complex III deficiency, nuclear type 2, TTC21B % 98% Nephronophthisis 12, Asphyxiating thoracic dystrophy 4, TTC % 100% Trichohepatoenteric syndrome 1, TTC7A % 95% Intestinal atresia, multiple, TTC % 100% Bardet-Biedl syndrome 8, Retinitis pigmentosa 51, TTI % 100% Mental retardation, autosomal recessive 39, TTN % 97% Cardiomyopathy, familial hypertrophic, 9, Cardiomyopathy, dilated, 1G, Tibial muscular dystrophy, tardive, Muscular dystrophy, limb-girdle, type 2J, Myopathy, proximal, with early respiratory muscle involvement, TTPA % 92% Ataxia with isolated vitamin E deficiency, TTR % 99% Amyloidosis, hereditary, transthyretin-related, [Dystransthyretinemic hyperthyroxinemia], Carpal tunnel syndrome, familial, TUBA1A % 50% Lissencephaly 3, TUBA % 99% Polymicrogyria with optic nerve hypoplasia, TUBB % 100% Macrothrombocytopenia, autosomal dominant, TUBB1-related, TUBB2A % 94% Cortical dysplasia, complex, with other brain malformations 5, TUBB2B % 92% Polymicrogyria, symmetric or asymmetric, TUBB % 79% Fibrosis of extraocular muscles, congenital, 3A, Cortical dysplasia, complex, with other brain malformations 1, TUBB4A % 72%?Dystonia 4, torsion, autosomal dominant, Leukodystrophy, hypomyelinating, 6, TUBG % 81% Cortical dysplasia, complex, with other brain malformations 4, TUBGCP % 98% Microcephaly and chorioretinopathy with or without mental retardation, TUFM % 94% Combined oxidative phosphorylation deficiency 4, TULP % 93% Retinitis pigmentosa 14, Leber congenital amaurosis 15, TUSC % 99% Mental retardation, autosomal recessive 7,

127 TWIST % 99% Saethre-Chotzen syndrome, Saethre-Chotzen syndrome with eyelid anomalies, Craniosynostosis, type 1, Robinow-Sorauf syndrome, TWIST % 96% Focal facial dermal dysplasia 3, Setleis type, TYK % 95% Tyrosine kinase 2 deficiency, TYMP % 92% Mitochondrial DNA depletion syndrome 1 (MNGIE type), TYR % 74% Albinism, oculocutaneous, type IA, Waardenburg syndrome/albinism, digenic, Albinism, oculocutaneous, type IB, [Skin/hair/eye pigmentation 3, light/dark/freckling skin], {Melanoma, cutaneous malignant, susceptibi TYROBP % 100% Nasu-Hakola disease, TYRP % 100% Albinism, oculocutaneous, type III, Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair), UBA % 98% Spinal muscular atrophy, X-linked 2, infantile, UBE2A % 100% Mental retardation, X-linked syndromic, Nascimento-type, UBE3A % 99% Angelman syndrome, UBE3B % 98% Blepharophimosis-ptosis-intellectual disability syndrome, UBIAD % 100% Corneal dystrophy, Schnyder type, UBQLN % 100% Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, UBR % 99% Johanson-Blizzard syndrome, UGT1A % 98% Crigler-Najjar syndrome, type I, [Gilbert syndrome], Crigler-Najjar syndrome, type II, Hyperbilirubinemia, familial transcient neonatal, [Bilirubin, serum level of, QTL1], UMOD % 96% Hyperuricemic nephropathy, familial juvenile 1, Medullary cystic kidney disease 2, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, UMPS % 100% Orotic aciduria, UNC13D % 100% Hemophagocytic lymphohistiocytosis familial 3 UNC93B % 54% Herpes simplex encephalitis, susceptibility to, 1, UNG % 92% Immunodeficiency with hyper IgM, type 5,

128 UPB % 100% Beta-ureidopropionase deficiency, UPF3B % 87% Mental retardation, X-linked, syndromic 14, UQCRB % 100% Mitochondrial complex III deficiency, nuclear type 3, UQCRC % 94% Mitochondrial complex III deficiency, nuclear type 5, UQCRQ % 99% Mitochondrial complex III deficiency, nuclear type 4, UROC % 83% Urocanase deficiency, UROD % 90% Porphyria cutanea tarda, Porphyria, hepatoerythropoietic, UROS % 89% Porphyria, congenital erythropoietic, USB % 88% Poikiloderma with neutropenia USH1C % 92% Acadian and Samaritan variety Usher syndrome, type 1C, Deafness, autosomal recessive 18A, USH1G % 88% Usher syndrome type 1G USH2A % 99% Usher syndrome, type 2A, Retinitis pigmentosa 39, USP9Y % 95% Spermatogenic failure, Y-linked, 2, UVSSA % 96% UV-sensitive syndrome 3, VANGL % 100% Caudal regression syndrome, Neural tube defects, VANGL % 95% Neural tube defects, VAPB % 93% Amyotrophic lateral sclerosis 8, Spinal muscular atrophy, late-onset, Finkel type, VAX % 92% Microphthalmia, syndromic 11, VCAN % 100% Wagner syndrome 1, VCL % 92% Cardiomyopathy, dilated, 1W, Cardiomyopathy, familial hypertrophic, 15, VCP % 96% Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, VDR % 100% Rickets, vitamin D-resistant, type IIA, ?Osteoporosis, involutional, (1) VHL % 100% von Hippel-Lindau syndrome, Renal cell carcinoma, somatic, Pheochromocytoma, Hemangioblastoma, cerebellar, somatic Erythrocytosis, familial, 2,

129 VIM % 100% Cataract 30, pulverulent, VIPAS % 97% Arthrogryposis, renal dysfunction, and cholestasis 2, VKORC % 100% Vitamin K-dependent clotting factors, combined deficiency of, 2, Warfarin resistance, VLDLR % 100% Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, VPS13A % 98% Choreoacanthocytosis, VPS13B % 98% Cohen syndrome, VPS33B % 97% Arthrogryposis, renal dysfunction, and cholestasis 1, VPS % 90% Parkinson disease 17, VPS37A % 97% Spastic paraplegia 53, autosomal recessive, VPS % 97% Neutropenia, severe congenital, 5, autosomal recessive, VRK % 100% Pontocerebellar hypoplasia type 1A, VSX % 88% Keratoconus 1, Corneal dystrophy, hereditary polymorphous posterior, Craniofacial anomalies and anterior segment dysgenesis syndrome, VSX % 94% Microphthalmia with coloboma 3 VWF % 71% von Willebrand disease, types 2A, 2B, 2M, and 2N, von Willebrand disease, type 1, von Willibrand disease, type 3, WAS % 69% Wiskott-Aldrich syndrome, Thrombocytopenia, X-linked, Neutropenia, severe congenital, X-linked, Thrombocytopenia, X-linked, intermittent, WDPCP % 99% Bardet-Biedl syndrome 15 WDR % 99% Hypogonadotropic hypogonadism 14 with or without anosmia, WDR % 100% Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4, WDR % 97% Short-rib thoracic dysplasia 11 with or without polydactyly, WDR % 97% Cranioectodermal dysplasia 2, Short rib-polydactyly syndrome, type V, WDR % 95% Glaucoma 1, open angle, G, WDR % 89% Neurodegeneration with brain iron accululation 5, WDR % 98% Short-rib thoracic dysplasia 8 with or without polydactyly,

130 WDR % 94% Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, WDR % 96% Amelogenesis imperfecta, hypomaturation type, IIA3, WDR % 98% Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, WFS % 98% Wolfram syndrome, Deafness, autosomal dominant 6/14/38, Wolfram-like syndrome, autosomal dominant, {Diabetes mellitus, noninsulin-dependent, association with}, WHSC1L % 96% Leukemia, acute myeloid, WIPF % 97% Wiskott-Aldrich syndrome 2, WISP % 100% Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy, WNK % 99% Pseudohypoaldosteronism, type IIC, Neuropathy, hereditary sensory and autonomic, type II, WNK % 99% Pseudohypoaldosteronism, type IIB, WNT % 96% Osteogenesis imperfecta, type XV, {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, WNT10A % 85% Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4, WNT10B % 97% Split-hand/foot malformation 6, WNT % 94% Tetra-amelia, autosomal recessive, WNT % 92% SERKAL syndrome, Mullerian aplasia and hyperandrogenism, WNT5A % 99% Robinow syndrome, autosomal dominant, WNT7A % 100% Ulna and fibula, absence of, with sever limb deficiency, Fuhrmann syndrome, WRAP % 99% Dyskeratosis congenita, autosomal recessive 3, WRN % 99% Werner syndrome WT % 98% Wilms tumor, type 1, Denys-Drash syndrome, Nephrotic syndrome, type 4, Frasier syndrome, Meacham syndrome,

131 Mesothelioma, somatic, WWOX % 98% Esophageal squamous cell carcinoma, XDH % 99% Xanthinuria, type I, XIAP % 76% Lymphoproliferative syndrome, X-linked, 2, XK % 84% McLeod syndrome with or without chronic granulomatous disease, XPA % 98% Xeroderma pigmentosum, group A, XPC % 98% Xeroderma pigmentosum, group C, XPNPEP % 99% Nephronophthisis-like nephropathy 1, YAP % 89% Coloboma, ocular, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, YARS % 97% Charcot-Marie-Tooth disease, dominant intermediate C, YARS % 100% Myopathy, lactic acidosis, and sideroblastic anemia 2, ZAP % 87% Selective T-cell defect, ZBTB % 98% Leukemia, acute promyelocytic, PL2F/RARA type Skeletal defects, genital hypoplasia, and mental retardation, ZBTB % 100% Immunodeficiency-centromeric instability-facial anomalies syndrome-2, ZC4H % 98% Wieacker-Wolf syndrome, ZDHHC % 83% Mental retardation, X-linked syndromic, Raymond type, ZEB % 97% Corneal dystrophy, posterior polymorphous, 3, Corneal dystrophy, Fuchs endothelial, 6, ZEB % 99% Mowat-Wilson syndrome, ZFP % 30% Diabetes mellitus, transient neonatal, 1, ZFPM % 98% Tetralogy of Fallot, Diaphragmatic hernia 3, ZFYVE % 93% Spastic paraplegia 15, autosomal recessive, ZFYVE % 91% Spastic paraplegia 33, autosomal dominant, ZIC % 86% Holoprosencephaly-5, ZIC % 97% Heterotaxy, visceral, 1, X-linked Congenital heart defects, nonsyndromic, 1, X-linked, VACTERL association, X-linked,

132 ZMPSTE % 100% Mandibuloacral dysplasia with type B lipodystrophy, Restrictive dermopathy, lethal, ZMYND % 92% Ciliary dyskinesia, primary, 22, ZNF % 94% Microcephaly 10, primary, autosomal recessive, ZNF % 99% Nephronophthisis 14, Joubert syndrome 19, ZNF % 99% Brittle cornea syndrome, ZNF % 96% Retinitis pigmentosa 58, ZNF % 92% Spinocerebellar ataxia, autosomal recessive 5, ZNF % 100% Myopia 21, autosomal dominant, ZNF % 100% Mental retardation, X-linked 97, ZNF % 99% Seborrhea-like dermatitis with psoriasiform elements, ZNF % 96% Mental retardation, X-linked 45, Gene symbols used follow HGCN guidelines Genomics 79(4): (2002) updated February 2014 Median Coverage describes the average number of reads seen across 50 exomes % Covered 10x describes the percentage of a gene s coding sequence that is covered at least 10x % Covered 20x describes the percentage of a gene s coding sequence that is covered at least 20x OMIM release used for OMIM disease identifiers and descriptions : 31 october 2014 Ad 1. No OMIM phenotype signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors