MENDELIOME GENE PANEL DG 2.4.x

Transcription

1 MENDELIOME GENE PANEL DG 2.4.x Gene Median % covered % covered Associated phenotype description and OMIM disease ID coverage > 10x > 20x A4GALT % 100% NOR polyagglutination syndrome, AAAS % 100% Achalasia-addisonianism-alacrimia syndrome, AAGAB % 98% Keratoderma palmoplantar punctate type IA, AARS % 94% Charcot-Marie-Tooth disease, axonal, type 2N, Epileptic encephalopathy,early infantile,29, AARS % 98% Combined oxidative phosphorylation deficiency 8, AASS % 100% Hyperlysinemia, Saccharopinuria, ABAT 68 95% 90% GABA-transaminase deficiency, ABCA % 99% HDL deficiency,type 2, Tangier disease, {Coronary artery disease in familial hypercholesterolemia,protection against}, ABCA % 99% Ichthyosis, autosomal recessive 4B (harlequin), Ichthyosis, congenital, autosomal recessive 4A, ABCA % 96% Surfactant metabolism dysfunction,pulmonary,3, ABCA % 98% Stargardt disease 1, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Macular degeneration, age-related, 2, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, ABCB % 98% Cholestasis,benign recurrent intrahepatic,2, Cholestasis,progressive familial intrahepatic 2, ABCB % 95% Cholestasis,intrahepatic,of pregnancy,3, Cholestasis,progressive familial intrahepatic 3, Gallbladder disease 1, ABCB % 100% Dyschromatosis universalis hereditaria 3, Microphthalmia,isolated, with coloboma 7, [Blood group, Langereis system],111600

2 ABCB % 99% Anemia, sideroblastic, with ataxia, ABCC % 100% Dubin-Johnson syndrome, ABCC % 68% Arterial calcification generalized of infancy 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, ABCC % 98% Hyperinsulinemic hypoglycemia, familial, 1, ABCC % 97% Cardiomyopathy, dilated, 1O, Atrial fibrillation, familial, 12, Hypertrichotic osteochondrodysplasia, ABCD % 74% Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, ABCD % 98% Methylmalonic aciduria and homocystinuria, cblj type, ABCG % 93% Sitosterolemia, ABCG % 95% Sitosterolemia, Gallbladder disease 4, ABHD % 81% Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, ABHD % 95% Chanarin-Dorfman syndrome, ABL % 95% Leukemia,Philadelphia chromosome-positive,resistant to imatrinib ACAD % 97% Isobutyryl-CoA dehydrogenase deficiency, ACAD % 100% ACAD9 deficiency, ACADM % 100% Acyl-CoA dehydrogenase, medium chain, deficiency of, ACADS % 98% Acyl-CoA dehydrogenase, short-chain, deficiency of, ACADSB % 95% 2-methylbutyrylglycinuria, ACADVL % 96% VLCAD deficiency, ACAN % 95% Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Osteochondritis dissecans, short stature, and early-onset osteoarthritis, ACAT % 99% Alpha-methylacetoacetic aciduria, ACE 98 92% 87% {Myocardial infarction, susceptibility to} {Alzheimer disease, susceptibility to}, {Microvascular complications of diabetes 3}, ACO % 84% Infantile cerebellar-retinal degeneration, ACOX % 95% Peroxisomal acyl-coa oxidase deficiency,

3 ACP % 98% Spondyloenchondrodysplasia with immune dysregulation, ACSF % 100% Combined malonic and methylmalonic aciduria, ACSL % 99% Mental retardation, X-linked 63, ACSL % 98% Myelodysplastic syndrome Myelogenous leukemia,acute ACTA % 87% 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 % 100% Aortic aneurysm familial thoracic 6, Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome, ACTB % 93% Dystonia, juvenile-onset, Baraitser-Winter syndrome 1, ACTC % 92% Cardiomyopathy, dilated, 1R, Cardiomyopathy, familial hypertrophic, 11, Atrial septal defect 5, Left ventricular noncompaction 4, ACTG % 89% Deafness, autosomal dominant 20/26, Baraitser-Winter syndrome 2, ACTN % 99% Bleeding disorder,platelet-type,15, ACTN % 95% Glomerulosclerosis, focal segmental, 1, ACVR % 97% Fibrodysplasia ossificans progressiva, ACVR1B % 92% Pancreatic cancer,somatic ACVR2B % 95% Heterotaxy, visceral, 4, autosomal, ACVRL % 85% Telangiectasia hereditary hemorrhagic type 2, ACY % 99% Aminoacylase 1 deficiency, ADA % 99% Severe combined immunodeficiency due to ADA deficiency, Adenosine deaminase deficiency, partial, ADAM % 100% Reticulate acropigmentation of Kitamura, {Alzheimer disease 18, susceptibility to}, ADAM % 98%?Inflammatory skin and bowel disease,neonatal,1, ADAM % 97% Cone-rod dystrophy 9, ADAMTS % 91% Weill-Marchesani syndrome 1 recessive,277600

4 ADAMTS % 84% Thrombotic thrombocytopenic purpura, familial, ADAMTS % 79% Weill-Marchesani-like syndrome, ADAMTS % 95% Microcornea, myopic chorioretinal atrophy, and telecanthus, ADAMTS % 92% Ehlers-Danlos syndrome type VIIC, ADAMTSL % 86% Geleophysic dysplasia 1, ADAMTSL % 97% Ectopia lentis et pupillae, Ectopia lentis,isolated,autosomal recessive, ADAR % 98% Dyschromatosis symmetrica hereditaria, Aicardi-Goutieres syndrome 6, ADAT % 100% Mental retardation, autosomal recessive 36, ADCK % 96% Coenzyme Q10 deficiency, primary, 4, ADCK % 94% Nephrotic syndrome type 9, 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 % 99% ade(-)i bifunctional Adenylosuccinase deficiency, AFF % 99% Mental retardation, X-linked, FRAXE type, AFG3L % 92% Spinocerebellar ataxia 28, Ataxia, spastic, 5, autosomal recessive, AGA % 97% Aspartylglucosaminuria, AGBL % 100% Corneal dystrophy, Fuchs endothelial, 8, AGK % 99% Hyperoxaluria, primary, type 1, AGL % 100% Glycogen storage disease IIIa, Glycogen storage disease IIIb, AGPAT % 92% Lipodystrophy, congenital generalized, type 1, AGPS % 100% Lipodystrophy, congenital generalized, type 1, AGRN % 91% Myasthenia, limb-girdle, familial, AGT % 100% {Hypertension, essential, susceptibility to}, {Preeclampsia, susceptibility to} Renal tubular dysgenesis, AGTR % 100% Hypertension, essential,

5 AGXT % 93% Hyperoxaluria, primary, type 1, AHCY % 81% Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, AHI % 99% Joubert syndrome-3, AICDA % 93% Immunodeficiency with hyper-igm, type 2, AIFM % 99% Combined oxidative phosphorylation deficiency 6, Cowchock syndrome, AIMP % 100% Leukodystrophy, hypomyelinating, 3, AIP % 95% Pituitary adenoma,acth-secreting, Pituitary adenoma, growth hormone-secreting, Pituitary adenoma,prolactin-secreting, AIPL % 100% Leber congenital amaurosis 4, Retinitis pigmentosa, juvenile, Cone-rod dystrophy, AIRE % 93% Autoimmune polyendocrinopathy syndrome, type I, AK % 100% Hemolytic anemia due to adenylate kinase deficiency, AK % 79% Reticular dysgenesis, AKAP % 99% Long QT syndrome-11, AKR1C % 82% 46XY sex reversal 8, Obesity,hyperphagia and developmental delay AKR1D % 100% Bile acid synthesis defect, congenital, 2, AKT % 95% Breast cancer somatic, Colorectal cancer, somatic, Cowden syndrome 6, Ovarian cancer, somatic, Proteus syndrome, somatic, {Schizophrenia, susceptibility to}, AKT % 98% Diabetes mellitus,type II, Hypoinsulinemic hypoglycemia with hemihypertrophy, AKT % 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, ALAD % 95% Porphyria, acute hepatic, Lead poisoning, susceptibility to, ALAS % 88% Anemia, sideroblastic, X-linked, Protoporphyria, erythropoietic, X-linked,

6 ALB % 100% Analbuminemia, [Dysalbuminemic hyperthyroxinemia], ALDH18A % 92% Cutis laxa, autosomal recessive, type IIIA, ALDH1A % 82% Microphthalmia, isolated 8, ALDH % 94% 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 % 88% Hyperprolinemia, type II, ALDH5A % 90% Succinic semialdehyde dehydrogenase deficiency, ALDH6A % 100% Methylmalonate semialdehyde dehydrogenase deficiency, ALDH7A % 93% Epilepsy, pyridoxine-dependent, ALDOA % 97% Glycogen storage disease XII, ALDOB % 98% Fructose intolerance, ALG % 45% ngenital disorder of glycosylation, type Ik, ALG % 100% Congenital disorder of glycosylation, type Ip, ALG % 99% Congenital disorder of glycosylation, type Ig, ALG % 94% Congenital disorder of glycosylation, type Is, ALG % 96% Congenital disorder of glycosylation, type Ii, ALG % 94% Congenital disorder of glycosylation, type Id, ALG % 100% Congenital disorder, type Ic, ALG % 94% Congenital disorder of glycosylation, type Ih, ALG % 96% Congenital disorder of glycosylation, type Il, ALMS % 98% Alstrom syndrome, ALOX12B % 100% Ichthyosis, congenital, autosomal recessive 2, ALOXE % 100% 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 paraplegia, infantile onset ascending, ALX % 99% Frontonasal dysplasia 3,

7 ALX % 74% Frontonasal dysplasia 1, ALX % 93% Parietal foramina 2, Frontonasal dysplasia 2, AMACR % 100% Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect, congenital, 4, AMELX % 100% Amelogenesis imperfecta, type 1E, AMER % 100% Osteopathia striata with cranial sclerosis, AMH % 65% Persistent Mullerian duct syndrome, type I, AMHR % 100% Persistent Mullerian duct syndrome, type II, AMN 60 87% 81% Megaloblastic anemia-1, Norwegian type, AMPD % 98% Myopathy due to myoadenylate deaminase deficiency, AMT % 100% Glycine encephalopathy, ANG % 100% Amyotrophic lateral sclerosis 9, ANGPTL % 100% Hypobetalipoproteinemia,familial,2, ANK % 95% Spherocytosis,type 1, ANK % 99% Long QT syndrome-4, Cardiac arrhythmia, ankyrin-b-related, ANKH % 100% Craniometaphyseal dysplasia, Chondrocalcinosis 2, ANKK % 100% Dopamine receptor D2,reduced brain density of ANKRD % 87% KBG syndrome, ANKRD % 95% Thrombocytopenia 2, ANKS % 82% Nephronophthisis 16, ANO % 100% Spinocerebellar ataxia, autosomal recessive 10, ANO % 100% Dystonia 24, ANO % 100% Gnathodiaphyseal dysplasia, Muscular dystrophy, limb-girdle, type 2L, Miyoshi muscular dystrophy 3, ANO % 92% Scott syndrome, ANTXR % 92% GAPO syndrome, {Hemangioma, capillary infantile, susceptibility to}, ANTXR % 97% Hyaline fibromatosis syndrome, AP1S % 99% MEDNIK syndrome, AP1S % 76% Mental retardation, X-linked syndromic, Fried type,

8 AP2S % 88% Hypocalciuric hypercalcemia, familial, type III, AP3B % 100% Hermansky-Pudlak syndrome 2, AP4B % 100% Spastic paraplegia 47, autosomal recessive, AP4E % 99% Spastic paraplegia 51, autosomal recessive, AP4M % 100% Spastic paraplegia 50, autosomal recessive, AP4S % 88% Spastic paraplegia 52, autosomal recessive, AP5Z % 88% 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 syndrome 2, APCDD % 100% Hypotrichosis 1, APOA % 94% Amyloidosis,3 or more types, ApoA-I and ApoC-III deficiency,combined Corneal clouding,autosomal recessive Hypoalphalipoproteinemia, APOA % 81% Apolipoprotein A-II deficiency {Hypercholesterolemia,familial,modifier of}, APOA % 100% Hyperchylomicronemia,late-onset, {Hypertriglyceridemia,susceptibility to}, APOB % 99% Hypercholesterolemia,due to ligand-defective apo B, Hypobetalipoproteinemia, APOC % 100% Hyperlipoproteinemia, type Ib, APOC % 100% Apolipoprotein C-III deficiency, APOE % 64% Alzheimer disease-2, Lipoprotein glomerulopathy, Sea-blue histiocyte disease, {?Macular degeneration,age-related}, APP % 99% Alzheimer disease 1,familial, Cerebral amyloid angiopathy,dutch,italian,iowa,flemish,arctic variants, APRT % 73% Adenine phosphoribosyltransferase deficiency,

9 APTX % 98% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, AQP % 86% Diabetes insipidus, nephrogenic, AQP % 99% Palmoplantar keratoderma, Bothnian type, AR % 98% Androgen insensitivity, Androgen insensitivity,partial,with/without breast cancer, Hypospadias 1,X-linked, Spinal and bulbar muscular atrophy of Kennedy, {Prostate cancer,susceptibility to}, ARFGEF % 99% Periventricular heterotopia with microcephaly, ARG % 96% Argininemia, ARHGAP % 100% Leukemia,juvenile myelomonocytic,somatic, ARHGAP % 99% Adams-Oliver syndrome 1, ARHGEF % 97%?Slowed nerve conduction velocity,ad, ARHGEF % 99% No OMIM phenotype ARHGEF % 95% Mental retardation, X-linked 46, ARHGEF % 98% Epileptic encephalopathy, early infantile, 8, ARID1A % 94% Mental retardation, autosomal dominant 14, ARID1B % 95% Mental retardation, autosomal dominant 12, ARL13B % 95% Joubert syndrome 8, ARL2BP % 97% Retinitis pigmentosa with or without situs inversus, ARL % 100% Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, {Bardet-Biedl syndrome 1, modifier of}, ARMC % 87% Ciliary dyskinesia, primary, 23, ARNT % 97% No OMIM phenotype ARSA % 96% Metachromatic leukodystrophy, ARSB % 99% Mucopolysaccharidosis type VI (Maroteaux-Lamy), ARSE % 93% Chondrodysplasia punctata, X-linked recessive, ARX % 68% Epileptic encephalopathy, early infantile, 1, Lissencephaly, X-linked 2, Mental retardation, X-linked 29 and others, Proud syndrome, Partington syndrome,

10 ASAH % 97% Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy, ASB % 89% Glaucoma 1,open angle,f, ASCC % 93% Barrett esophagus/esophageal adenocarcinoma, ASCL % 89% Central hypoventilation syndrome,congenital, Haddad syndrome, ASL % 93% Argininosuccinic aciduria, ASNS 75 92% 87% Asparagine synthetase deficiency, ASPA % 100% Canavan disease, ASPM % 99% Microcephaly 5, primary, autosomal recessive, ASPSCR % 94% Alveolar soft-part sarcoma, ASS % 68% Citrullinemia, ASXL % 97% Bohring-Opitz syndrome, Myelodysplastic syndrome, somatic, ASXL % 99% Bainbridge-Ropers syndrome, ATCAY % 100% Ataxia, cerebellar, Cayman type, ATIC % 96% AICA-ribosiduria due to ATIC deficiency, ATL % 100% Neuropathy,hereditary sensory,type 1D, Spastic paraplegia 3A, autosomal dominant, ATL % 99% Neuropathy,hereditary sensory,type IF, ATM % 99% Ataxia-telangiectasia, Lymphoma, B-cell non-hodgkin, somatic {Breast cancer, susceptibility to}, ATN % 97% Dentatorubro-pallidoluysian atrophy, ATP13A % 93% Parkinson disease 9, ATP1A % 99% Migraine, familial hemiplegic, 2, Alternating hemiplegia of childhood, Migraine, familial basilar, ATP1A % 99% Alternating hemiplegia of childhood 2, CAPOS syndrome, Dystonia-12, ATP2A % 100% Brody myopathy, ATP2A % 100% Darier disease, Acrokeratosis verruciformis,

11 ATP2C % 99% Hailey-Hailey disease, ATP5E % 100% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, ATP6V0A % 100% Cutis laxa, autosomal recessive, type IIA, Wrinkly skin syndrome, ATP6V0A % 93% Renal tubular acidosis, distal, autosomal recessive, ATP6V1B % 99% Renal tubular acidosis with deafness, ATP7A % 100% Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3, ATP7B % 97% Wilson disease, ATP8B % 98% Cholestasis, progressive familial intrahepatic 1, Cholestasis, benign recurrent intrahepatic, Cholestasis, intrahepatic, of pregnancy, 1, ATPAF % 100% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, ATR % 99% Seckel syndrome 1, Cutaneous telangiectasia and cancer syndrome, familial, ATRX % 100% Alpha-thalassemia/mental retardation syndrome, Alpha-thalassemia myelodysplasia syndrome, somatic, Mental retardation-hypotonic facies syndrome, X-linked, ATXN % 100% Spinocerebellar ataxia 1, ATXN % 99% Spinocerebellar ataxia 10, ATXN % 79% Spinocerebellar ataxia 2, {Amyotrophic lateral sclerosis,susceptibility to,13}, {Parkinson disease,late-onset,susceptibility to}, ATXN % 98% Machado-Joseph disease, ATXN % 94% Spinocerebellar ataxia 7, AUH % 89% 3-methylglutaconic aciduria, type I, AURKC % 100% Spermatogenic failure 5, AVP % 57% Diabetes insipidus,neurohypophyseal, AVPR % 91% Diabetes insipidus, nephrogenic, Nephrogenic syndrome of inappropriate antidiuresis, AXIN % 87%?Caudal duplication anomaly, Hepatocellular carcinoma,somatic,114550

12 AXIN % 90% Colorectal cancer somatic, Oligodontia-colorectal cancer syndrome, B2M % 100%?Amyloidosis,familial visceral, Immunodeficiency 43, B3GALNT % 89% Muscular dystrophy-dystroglycanopathy with brain and eye anomalies,type A,11, B3GALT % 75% Ehlers-Danlos syndrome progeroid type 2, Spondyloepimetaphyseal dysplasia with joint laxity, type 1,with or without fractures, B3GALTL % 95% Peters-plus syndrome, B3GAT % 85% Multiple joint dislocations, short stature, craniofacial dysmorphism, and heart defects, B3GNT % 100% Muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A, 13, B4GALNT % 90% Spastic paraplegia 26, autosomal recessive, B4GALT % 97% Congenital disorder of glycosylation, type IId, B4GALT % 95% Ehlers-Danlos syndrome, progeroid type, 1, B9D % 87% Meckel syndrome 9, B9D % 99% Meckel syndrome 10, BAAT % 98% Hypercholanemia, familial, BAG % 100% Myopathy, myofibrillar, 6, Cardiomyopathy, dilated, 1HH, BANF % 54% Nestor-Guillermo progeria syndrome, BAP % 99% Tumor predisposition syndrome, BAX % 84% Colorectal cancer,somatic, T-cell acute lymphoblastic leukemia,somatic, BBS % 99% Bardet-Biedl syndrome 1, BBS % 100% Bardet-Biedl syndrome 10, BBS % 100% Bardet-Biedl syndrome 12, BBS % 99% Bardet-Biedl syndrome 2, BBS % 98% Bardet-Biedl syndrome 4, BBS % 100% Bardet-Biedl syndrome 5, BBS % 99% Bardet-Biedl syndrome 7, BBS % 100% Bardet-Biedl syndrome 9, BCAP % 78% Deafness, dystonia and cerebellar hypomyelination, BCHE % 100% Apnea,postanesthetic BCKDHA % 98% Maple syrup urine disease, type Ia, BCKDHB % 89% Maple syrup urine disease, type Ib,

13 BCKDK % 100% Branched-chain ketoacid dehydrogenase kinase deficiency, BCL % 93%?Immunodeficiency 37, Lymphoma,MALT,somatic, {Lymphoma,follicular,somatic}, {Male germ cell tumor,somatic}, {Mesothelioma,somatic}, {Sezary syndrome,somatic} BCL % 100% Leukemia/lymphoma,B-cell,2 BCL7A % 86% B-cell non-hodgkin lymphoma,high-grade BCMO % 100% Hypercarotenemia and vitamin A deficiency, autosomal dominant, BCOR % 99% Microphthalmia, syndromic 2, BCR % 78% Leukemia,acute lymphocytic,somatic, Leukemia,chronic myeloid,somatic, BCS1L % 100% Mitochondrial complex III deficiency, nuclear type 1, Leigh syndrome, Bjornstad syndrome, GRACILE syndrome, BDNF % 97% Central hypoventilation syndrome,congenital, {Anorexia nervosa,susceptibility to}, {Bulimia nervosa,age of onset of weight loss in}, {Memory impairment,susceptibility to} {Obsessive-compulsive disorder,protection against}, BEAN % 95% Spinocerebellar ataxia 31, BEST % 94% Best macular dystrophy, Maculopathy, bull's-eye Vitelliform macular dystrophy, adult-onset, Bestrophinopathy, Vitreoretinochoroidopathy, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, BFSP % 94% Cataract 33, BFSP % 94% Cataract 12, multiple types, BICD % 95% Spinal muscular atrophy, lower extremity-predominant, 2, AD, BIN % 75% Myopathy, centronuclear, autosomal recessive, BLK % 99% Maturity-onset diabetes of the young,type 11,613375

14 BLM % 98% Bloom syndrome, BLNK % 97% Agammaglobulinemia 4, BLOC1S % 35% Hermansky-Pudlak syndrome 8, BLOC1S % 82% Hermansky-pudlak syndrome 9, BLVRA % 99% Hyperbiliverdinemia, BMP % 96% Osteogenesis imperfecta,type XIII, BMP % 100% Ovarian dysgenesis 2, Premature ovarian failure 4, BMP % 100% Brachydactyly, type A2, {HFE hemochromatosis, modifier of}, BMP % 100% Microphthalmia, syndromic 6, Orofacial cleft 11, BMPER % 99% Diaphanospondylodysostosis, BMPR1A % 69% Polyposis, juvenile intestinal, Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, infantile form, BMPR1B % 98% Acromesomelic dysplasia,demirhan type, Brachydactyly,type A2, BMPR % 99% Pulmonary hypertension, familial primary, 1, with or without HHT, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, Pulmonary venoocclusive disease, BOLA % 87% Multiple mitochondrial dysfunctions syndrome 2, BPGM % 100% Erythrocytosis due to bisphosphoglycerate mutase deficiency, BRAF % 97% Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic, Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome, Noonan syndrome 7, LEOPARD syndrome 3, BRAT % 96% Rigidity and multifocal seizure syndrome,lethal neonatal,614498

15 BRCA % 99% {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, Fanconi anemia, complementation group J, BRWD % 98% Mental retardation, X-linked 93, BSCL % 100% Lipodystrophy, congenital generalized, type 2, Silver spastic paraplegia syndrome, Neuropathy, distal hereditary motor, type V, BSND % 100% Bartter syndrome, type 4a, Sen sorineural deafness with mild renal dysfunction, BTD % 100% Biotinidase deficiency, BTK % 100% Agammaglobulinemia, X-linked 1, BUB % 97% Colorectal cancer with chromosomal instability,somatic BUB1B % 98% Colorectal cancer, somatic, Mosaic variegated aneuploidy syndrome 1, [Premature chromatid separation trait], C10orf % 99% Albinism, oculocutaneous type VII, C10orf % 100% Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Perrault syndrome 5, Progressive external ophthalmoplegia with mitochondrial DNA depletions, dominant, C12orf % 97% Temtamy syndrome, C12orf % 100% Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55,autosomal recessive, C15orf % 90% Dyserythropoietic anemia, congenital, type Ib, C19orf % 95%?Spastic paraplegia 43, autosomal recessive, Neurodegeneration with brain iron accumulation 4, C1GALT1C % 100% Tn polyagglutination syndrome, somatic, C1QA % 89% C1q deficiency, C1QB % 88% C1q deficiency,

16 C1QC % 70% C1q deficiency, C1QTNF % 79% Retinal degeneration, late-onset, autosomal dominant, C1S % 99% C1s deficiency, C % 44% C2 deficiency, C21orf % 96% Ciliary dyskinesia, primary, 26, C2orf % 94% Retinitis pigmentosa 54, C % 94% C3 deficiency, C4A 2.1 4% 3% C4a deficiency, C4B 1.7 4% 2% C4B deficiency, C4orf % 100% Amelogenesis imperfecta, type IIA4, C % 99% C5 deficiency, C5orf % 100% Joubert syndrome 17, C % 99% C6 deficiency, C % 94% C7 deficiency, C8A % 98% C8 deficiency, type I, C8B % 98% C8 deficiency, type II, C8orf % 100% Retinitis pigmentosa 64, Cone-rod dystrophy 16, C % 100% C9 deficiency, C9orf % 100% Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, CA % 100% Hyperchlorhidrosis,isolated, CA % 100% Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, CA % 94% Retinitis pigmentosa 17, CA5A % 37% Hyperammonemia due to carbonic anhydrase VA deficiency, CA % 100% Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, CABP % 68% Deafness, autosomal recessive 93, CABP % 100% Night blindness, congenital stationary (incomplete), 2B, autosomal recessive,

17 CACNA1A % 88% Episodic ataxia,type 2, Migraine, familial hemiplegic, 1, Migraine, familial hemiplegic,1,with progressive cerebellar ataxia, Spinocerebellar ataxia 6, CACNA1C % 94% Timothy syndrome, Brugada syndrome 3, CACNA1D % 97% Sinoatrial node dysfunction and deafness, CACNA1F % 95% Night blindness, congenital stationary (incomplete), 2A, X-linked, Cone-rod dystropy, X-linked, 3, Aland Island eye disease, CACNA1S % 98% Hypokalemic periodic paralysis, type 1, {Malignant hyperthermia susceptibility 5}, {Thyrotoxic periodic paralysis, susceptibility to, 1}, CACNA2D % 91% Retinal cone dystrophy 4, CACNB % 99% Brugada syndrome 4, CACNB % 94% {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% Myelofibrosis,somatic, Thrombocythemia,somatic, CALR % 100% Cardiomyopathy, familial hypertrophic, 19, CAMTA % 95% Cerebellar ataxia, nonprogressive, with mental retardation, CANT % 96% [Glutaric aciduria III], CAPN % 97% Muscular dystrophy, limb-girdle, type 2A, CAPN % 98% Vitreoretinopathy, neovascular inflammatory, CARD % 97% Persistent polyclonal B-cell lymphocytosis, CARD % 90% Pityriasis rubra pilaris, Psoriasis 2, CARD % 97% Candidiasis, familial, 2, autosomal recessive, CASC % 98% Microcephaly 4,primary,autosomal recessive,604321

18 CASK % 100% Mental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome 4, Mental retardation, with or without nystagmus, CASP % 99% Autoimmune lymphoproliferative syndrome, type II, CASP % 100% Immunodeficiency due to CASP8 deficiency, CASQ % 97% Ventricular tachycardia, catecholaminergic polymorphic, 2, CASR % 99% Hyperparathyroidism,neonatal, Hypocalcemia,autosomal dominant, Hypocalciuric hypercalcemia,type I, {Epilepsy idiopathic generalized,susceptibility to,8}, CAT % 96% Desbuquois dysplasia, CATSPER % 98% Spermatogenic failure 7, CAV % 100%?Lipodystrophy,congenital generalized,type 3,612526?Partial lipodystrophy, congenital cataracts and neurodegeneration syndrome, 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, Long QT syndrome-9, CBL % 100% Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, CBS % 84% Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic, CBX % 99% 46XY sex reversal 5, CC2D1A % 97% Mental retardation, autosomal recessive 3, CC2D2A % 98% COACH syndrome, Joubert syndrome 9, Meckel syndrome 6, CCBE % 89% Hennekam lymphangiectasia-lymphedema syndrome, CCDC % 100% Ciliary dyskinesia, primary, 17,

19 CCDC % 97% Heterotaxy,visceral,6,autosomal recessive, CCDC % 99% Ciliary dyskinesia, primary, 20, CCDC % 100% Ciliary dyskinesia, primary, 14, CCDC % 93% Ciliary dyskinesia, primary, 15, CCDC % 96% Deafness, autosomal dominant 44, CCDC % 99% Ciliary dyskinesia, primary, 27, CCDC % 100% Myopathy, centronuclear, 4, CCDC % 100% 3-M syndrome 3, CCDC88C % 98%?Spinocerebellar ataxia 40, Hydrocephalus,nonsyndromic,autosomal recessive, CCM % 89% Cerebral cavernous malformations-2, CCT % 87% Neuropathy, hereditary sensory, with spastic paraplegia, CD % 100% 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 % 99% Lymphoproliferative syndrome 2, CD2AP % 99% Glomerulosclerosis, focal segmental, 3, CD % 75% Methylmalonic aciduria due to transcobalamin receptor defect, CD % 100% Platelet glycoprotein IV deficiency, {Coronary heart disease,susceptibility to,7}, {Malaria,cerebral,reduced risk of},61162 CD3D % 99% Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, CD3E % 91% Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, CD3G % 100% Immunodeficiency 17, CD3 gamma deficient, CD % 98% OKT4 epitope deficiency, CD % 94% Immunodeficiency with hyper-igm, type 3, CD40LG % 99% Immunodeficiency, X-linked, with hyper-igm, CD % 81% Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, CD79A % 95% Agammaglobulinemia 3,

20 CD79B % 100% Agammaglobulinemia 6, CD % 99% Immunodeficiency, common variable, 6, CD8A % 95% CD8 deficiency, familial, CD % 99% C syndrome, CDAN % 98% Dyserythropoietic anemia, congenital, type Ia, CDC % 100% Meier-Gorlin syndrome 5, CDC % 100% Hyperparathyroidism, familial primary, Hyperparathyroidism-jaw tumor syndrome, Parathyroid adenoma with cystic changes, Parathyroid carcinoma, CDH % 100% 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 % 97% Mental retardation, autosomal dominant 3, CDH % 97% Usher syndrome, type 1D, Deafness, autosomal recessive 12, Usher syndrome, type 1D/F digenic, CDH % 95% Ectodermal dysplasia,ectrodactyly and macular dystrophy, Hypotrichosis, congenital, with juvenile macular dystrophy, CDHR % 97% Cone-rod dystrophy 15, Retinitis pigmentosa 65, CDK5RAP % 97% Microcephaly 3, primary, autosomal recessive, CDKL % 100% Epileptic encephalopathy, early infantile, 2, Angelman syndrome-like, CDKN1B % 100% Multiple endocrine neoplasia,type IV, CDKN1C % 71% Beckwith-Wiedemann syndrome, IMAGE syndrome, CDKN2A % 93% {Melanoma, cutaneous malignant, 2}, Melanoma and neural system tumor syndrome, Pancreatic cancer/melanoma syndrome, Orolaryngeal cancer, multiple, -3

21 CDON % 100% Holoprosencephaly 11, CDSN % 19% Hypotrichosis 2, Peeling skin syndrome 1, CDT % 75% Meier-Gorlin syndrome 4, CEACAM % 94% Deafness, autosomal dominant 4B, CEBPA % 58% Leukemia,acute myeloid, CEBPE % 100% Specific granule deficiency, CECR % 95%?Sneddon syndrome, Polyarteritis nodosa,childhood-onset, CEL % 62% Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic, 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, CEP % 97%?Bardet-Biedl syndrome 14, Joubert syndrome 5, Leber congenital amaurosis 10, Meckel syndrome 4, Senior-Loken syndrome 6, CEP % 100% Joubert syndrome 15, CEP % 94% Mosaic variegated aneuploidy syndrome 2, CERKL % 100% Maturity-onset diabetes of the young, type VIII, CERS % 99% Ichtyosis, congenital, autosomal recessive 9, CES % 56% Carboxylesterase 1 deficiency CETP % 100% Hyperalphalipoproteinemia, [High density lipoprotein cholesterol level QTL 10], CFC % 0% Heterotaxy, visceral, 2, autosomal, Double-outlet right ventricle, Transposition of the great arteries, dextro-looped 2, CFD % 90% Complement factor D deficiency,

22 CFH % 93% {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, CFHR % 93% Nephropathy due to CFHR5 deficiency, CFI % 99% Complement factor I deficiency, CFL % 99% Nemaline myopathy 7, autosomal recessive, CFP % 98% Properdin deficiency,x-linked, CFTR % 95% Congenital bilateral absence of vas deference, Cystic fibrosis, Sweat chloride elevation without CF {Bronchiestasis with or without elevated sweat chloride 1, modifier of}, {Hypertrypsinemia, neonatal} {Pancreatitis, idiopathic}, CHAT % 78% 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, CHEK % 58% Li-Fraumeni syndrome, Osteosarcoma, somatic, {Breast cancer, susceptibility to}, {Prostate cancer, familial, susceptibility to}, {Breast and colorectal cancer, susceptibility to} CHKB % 89% Muscular dystrophy, congenital, megaconial type, CHM % 99% Choroideremia, CHMP1A % 93% Pontocerebellar hypoplasia,type 8, CHMP2B % 100% Dementia, familial, nonspecific, Amyotrophic lateral sclerosis 17, CHMP4B % 98% Cataract 31, multiple types, CHN % 98% Duane retraction syndrome 2, CHRDL % 98% Megalocornea 1,X-linked, CHRM % 100%?Prune belly syndrome, CHRNA % 99% Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, fast-channel congenital, 60893

23 Multiple pterygium syndrome, lethal type, CHRNA % 100% Epilepsy, nocturnal frontal lobe, type 4, CHRNA % 97% Epilepsy, nocturnal frontal lobe, 1, {Nicotine addiction,susceptibility to}, CHRNB % 93% Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, CHRNB % 95% Epilepsy, nocturnal frontal lobe, 3, CHRND % 90% 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% Escobar syndrome,26500 Multiple pterygium syndrome,lethal type, CHST % 96% Ehlers-Danlos syndrome, musculocantractural type 1, CHST % 98% Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST % 100% Macular corneal dystrophy, CHSY % 92% Temtamy preaxial brachydactyly syndrome, CHUK % 97% Cocoon syndrome, CIB % 100% Deafness, autosomal recessive 48, Usher syndrome, type IJ, CIITA % 95% Bare lymphocyte syndrome type II, complementation group A, {Rheumatoid arthritis, susceptibility to}, CIRH1A % 100% Cirrhosis,North American Indian childhood type, CISD % 83% Wolfram syndrome 2, CITED % 97% Ventricular septal defect 2, Atrial septal defect 8, CLCF % 73% Cold-induced sweating syndrome 2,610313

24 CLCN % 97% Myotonia congenita, recessive, Myotonia congenita, dominant, Myotonia levior, recessive CLCN % 99% Leukoencephalopathy with ataxia, {Epilepsy,idiopathic generalized,susceptibility to,11}, CLCN % 100% Dent disease, Hypophosphatemic rickets, Nephrolithiasis,type I, Proteinuria,low molecular weight,with hypercalciuric nephrocalcinosis, CLCN % 94% Osteopetrosis,autosomal dominant 2, Osteopetrosis,autosomal recessive 4, CLCNKA % 84% Bartter syndrome,type 4b,digenic, CLCNKB % 83% Bartter syndrome, type 3, Bartter syndrome,type 4b,digenic, CLDN % 99% Ichthyosis,leukocyte vacuoles,alopecia and sclerosing cholangitis, CLDN % 96% Deafness, autosomal recessive 29, CLDN % 95% Hypomagnesemia 3, renal, CLDN % 88% Hypomagnesemia 5, renal, with ocular involvement, CLEC7A % 100% Candidiasis, familial, 4, autosomal recessive, CLIC % 86% Mental retardation, X-linked, syndromic 32, CLMP % 97% Congenital short bowel syndrome, CLN % 95% Ceroid lipofuscinosis, neuronal, 3, CLN % 89% Ceroid lipofuscinosis, neuronal, 5, CLN % 89% 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 % 95% Perrault syndrome 3, CLRN % 100% Retinitis pigmentosa 61, Usher syndrome type 3A, Retinitis pigmentosa 61, CNBP % 99% Myotonic dystrophy 2,602668

25 CNGA % 90% Retinitis pigmentosa 49, CNGA % 98% Achromatopsia-2, CNGB % 92% Retinitis pigmentosa 45, CNGB % 96% Achromatopsia-3, Macular degeneration, juvenile, CNNM % 98% Hypomagnesemia 6, renal, CNNM % 97% Jalili syndrome, CNTN % 99% Myopathy, congenital, Compton-North, CNTNAP % 100% Cortical dysplasia-focal epilepsy syndrome, {Autism susceptibility 15}, Pitt-Hopkins like syndrome 1, COA % 82% 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 % 94% Congenital disorder of glycosylation, type 2j, COG % 96% Congenital disorder of glycosylation, type 2i, COG % 97% Congenital disorder of glycosylation, type 2l, Shaheen syndrome, COG % 98% 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, COL11A % 26% Stickler syndrome, type III, Otospondylomegaepiphyseal dysplasia, Weissenbacher-Zweymuller syndrome, Deafness, autosomal dominant 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2, COL17A % 93% Epidermolysis bullosa,junctional,non-herlitz type, COL18A % 90% Knobloch syndrome,type 1,267750

26 COL1A % 98% Caffey disease, Ehlers-Danlos syndrome,classis, Ehlers-Danlos syndrome,type VIIA, Osteogenesis imperfecta,type I, Osteogenesis imperfecta,type II, Osteogenesis imperfecta,type III, COL1A % 92% Ehlers-Danlos syndrome,cardiac valvular form, Ehlers-Danlos syndrome, type VIIB, Osteogenesis imperfecta, type II, Osteogenesis imperfecta, type III, Osteogenesis imperfecta, type IV, {Osteoporosis, postmenopausal},16671 COL2A % 96% Stickler syndrome, type I, Kniest dysplasia, Achondrogenesis, type II or hypochondrogenesis, SED congenita, SMED Strudwick type, Epiphyseal dysplasia, multiple, with myopia and deafness, Spondyloperiph COL3A % 94% Ehlers-Danlos syndrome, type IV, COL4A % 94% Porencephaly 1, COL4A % 97% Porencephaly 2, {Hemorrhage, intracerebral, susceptibility to}, COL4A % 94% Alport syndrome, autosomal recessive, Alport syndrome, autosomal dominant, Hematuria,benign familial, COL4A % 98% Alport syndrome, autosomal recessive, COL4A % 96% Alport syndrome, COL5A % 97% Ehlers-Danlos syndrome, classic type I, COL5A % 94% Ehlers-Danlos syndrome, classic type I, COL6A % 97% Bethlem myopathy, Ullrich congenital muscular dystrophy, {Ossification of the posterior longitudinal spinal ligaments}, (2)

27 COL6A % 94% Bethlem myopathy, Ullrich congenital muscular dystrophy, Myosclerosis, congenital, COL6A % 99% Bethlem myopathy, Ullrich congenital muscular dystrophy, COL7A % 99% EBD inversa, EBD, Bart type, Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR, Epidermolysis bullosa pruriginosa, Epidermolysis bullosa,pretibial, Toenail dystrophy,isolated, Tra COL8A % 86% Corneal dystrophy, Fuchs endothelial, 1, Corneal dystrophy, posterior polymorphous 2, COL9A % 97% Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type IV, COL9A % 93% Epiphyseal dysplasia, multiple, 2, {Intervertebral disc disease, susceptibility to}, Stickler syndrome, type V, COL9A % 90% Epiphyseal dysplasia,multiple,3, {Intervertebral disc disease,susceptibility to}, COLEC % 99% 3MC syndrome 2, COLQ % 99% Endplate acetylcholinesterase deficiency, COMP % 97% Epiphyseal dysplasia,multiple,1, Pseudoachondroplasia, COQ % 82% Coenzyme Q10 deficiency, primary, 1, COQ % 92% Coenzyme Q10 deficiency, primary, 6, COQ % 91% Coenzyme Q10 deficiency, primary, 5, CORIN % 99% Preeclampsia/eclampsia 5, CORO1A % 90% Immunodeficiency 8, COX % 97% Leigh syndrome due to mitochondrial COX4 deficiency, Mitochondrial complex IV deficiency, COX % 100% Mitochondrial complex IV deficiency,

28 COX % 98% Leigh syndrome due to cytochrome c oxidase deficiency, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, COX % 85% Mitochondrial complex IV deficiency, COX4I % 87% Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, COX7B % 98% Linear skin defects with multiple congenital anomalies, CP % 94% [Hypoceruloplasminemia, hereditary], Cerebellar ataxia, Hemosiderosis, systemic, due to aceruloplasminemia, CPA % 100% Epilepsy, familial temporal lobe, 5, Febrile seizures,familial,11, CPN % 98% Carboxypeptidase N deficiency, CPOX % 95% 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}, CRADD % 77% Mental retardation, autosomal recessive 34, CRB % 99% Retinitis pigmentosa-12, autosomal recessive, Leber congenital amaurosis 8, Pigmented paravenous chorioretinal atrophy, CRBN % 100% Mental retardation, autosomal recessive 2, CREB % 96% Histiocytoma,angiomatoid fibrous,somatic, CREBBP % 98% Rubinstein-Taybi syndrome,

29 CRELD % 97% {Atrioventricular septal defect, susceptibility to, 2}, Atrioventricular septal defect, partial, with heterotaxy syndrome, CRLF % 81% Cold-induced sweating syndrome 1, CRTAP % 100% Osteogenesis imperfecta,type VII, CRTC % 91% Mucoepidermoid salivary gland carcinoma CRX % 100% Cone-rod retinal dystrophy-2, Leber congenital amaurosis 7, CRYAA % 91% 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 % 89% Cataract 17, multiple types, CRYBB % 100% Cataract 3, multiple types, CRYBB % 100% Cataract 22, autosomal recessive, CRYGB % 90% Cataract 39, multiple types, autosomal dominant, CRYGC % 99% Cataract 2, multiple types, CRYGD % 83% Cataract 4, multiple types, CRYGS % 95% Cataract 20, multiple types, CRYM % 100% Deafness, autosomal dominant 40 CSF1R % 97% Leukoencephalopathy,diffuse hereditary,with spheroids, CSF2RA 0.5 0% 0% Surfactant metabolism dysfunction, pulmonary, 4, CSF2RB % 97% Surfactant metabolism dysfunction,pulmonary,5, CSF3R % 97% Neutrophilia, hereditary, CSNK1D % 86% Advanced sleep-phase syndrome,familial,2, CSPP % 100% Joubert syndrome 21, CSRP % 100% Cardiomyopathy, dilated, 1M, Cardiomyopathy, familial hypertrophic, 12, CST % 96% Cerebral amyloid angiopathy, Macular degeneration,age-related,11,611953

30 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 CTHRC % 92% Barrett esophagus/esophageal adenocarcinoma, CTNNA % 97% Arrhytmogenic right ventricular dysplasia, familial, 13, CTNNB % 99% Mental retardation, autosomal dominant 19, Colorectal cancer, somatic, Hepatocellular carcinoma, somatic, Ovarian cancer, somatic, Pilomatricoma, somatic, CTNS % 87% Cystinosis, atypical nephropathic, Cystinosis, late-onset juvenile or adolescent nephropathic, Cystinosis,ocular nonnephropathic, CTSA % 100% Galactosialidosis, CTSC % 98% Papillon-Lefevre syndrome, Haim-Munk syndrome, Periodontitis 1, juvenile, CTSD % 94% Ceroid lipofuscinosis, neuronal, 10, CTSF % 82% Ceroid lipofuscinosis, neuronal, 13, Kufs type, CTSK % 100% Pycnodysostosis, CUBN % 96% Megaloblastic anemia-1, Finnish type, CUL % 97% Pseudohypoaldosteronism,type IIE, CUL4B % 99% Mental retardation, X-linked, syndromic 15 (Cabezas type), CUL % 99% 3-M syndrome 1, CXCR % 100% WHIM syndrome,

31 CYB5A % 96% Methemoglobinemia, type IV, CYB5R % 95% Methemoglobinemia, type I, Methemoglobinemia, type II, CYBA % 53% Chronic granulomatous disease, autosomal, due to deficiency of CYBA, CYBB % 92% Chronic granulomatous disease, X-linked, CYC % 82% Mitochondrial complex III deficiency, nuclear type 6, CYCS % 99% Thrombocytopenia 4, CYLD % 100% Cylindromatosis, familial, Brooke-Spiegler syndrome, Trichoepithelioma, multiple familial, 1, CYP11A % 92% Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, CYP11B % 96% 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 % 100% Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Peters anomaly, CYP21A % 1% Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, CYP24A % 99% Hypercalcemia,infantile, CYP26B % 99% Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, CYP26C % 81% Focal facial dermal dysplasia 4,614974

32 CYP27A % 97% Cerebrotendinous xanthomatosis, CYP27B % 95% Vitamin D-dependent rickets, type I, CYP2A % 43% Coumarin resistance, {Lung cancer,resistance to}, {Nicotine addiction,protection from}, CYP2B % 88% Efavirenz,poor metabolism of, {Efavirenz central nervous system toxicity,susceptibility to}, CYP2C % 96% Clopidogrel,impaired responsiveness to, Mephenytoin poor metabolizer, Omeprazole poor metabolizer, Proguanil poor metabolizer, CYP2C % 100% Rhabdomyolysis,cerivastatin-induced CYP2C % 100% Tolbutamide poor metabolizer Warfarin sensitivity, CYP2R % 95% Rickets due to defect in vitamin D 25-hydroxylation, CYP2U % 91% Spastic paraplegia 56, autosomal recessive, CYP4F % 97% Ichthyosis,congenital,autosomal recessive 5, CYP4V % 100% Bietti crystalline corneoretinal dystrophy, CYP7B % 95% Bile acid synthesis defect, congenital, 3, Spastic paraplegia 5A, autosomal recessive, D2HGDH 67 95% 86% D-2-hydroxyglutaric aciduria, DAG % 100% Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, DARS % 100% Hypomyelination with brainstem and spinal cord involvment and leg spasticity, DARS % 99% Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, DBH % 99% [Dopamine-beta-hydroxylase activity levels, plasma] Dopamine beta-hydroxylase deficiency, DBT % 100% Maple syrup urine disease, type II, DCAF % 97% Woodhouse-Sakati syndrome, DCC % 99% Colorectal cancer,somatic, Esophageal carcinoma,somatic, Mirror movements 1,157600

33 DCHS % 98% Mitral valve prolapse 2, Van Maldergem syndrome 1, DCLRE1C % 90% Severe combined immunodeficiency, Athabascan type, DCN % 89% Corneal dystrophy, congenital stromal, DCTN % 97% Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, {Amyotrophic lateral sclerosis,susceptibility to}, DCX % 100% Lissencephaly, X-linked, Subcortical laminal heteropia, X-linked, DDB % 98% Xeroderma pigmentosum, group E, DDB-negative subtype, DDC % 97% Aromatic L-amino acid decarboxylase deficiency, DDHD % 97% Spastic paraplegia 28, autosomal recessive, DDHD % 100% Spastic paraplegia 54, autosomal recessive, DDOST % 97% 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 % 92%?Muscular dystrophy, limb-girdle, type 2R, Cardiomyopathy, dilated, 1I, Myopathy, myofibrillar, 1, Scapuloperoneal syndrome, neurogenic, Kaeser type, DFNA % 99% Deafness, autosomal dominant 5, DFNB % 96% Deafness, autosomal recessive 31, Usher syndrome, type 2D, DFNB % 100% Deafness, autosomal recessive 59, DGKE % 98% Nephrotic syndrome, type 7, DGUOK % 100% Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DHCR % 97% Desmosterolosis, DHCR % 99% Smith-Lemli-Opitz syndrome, DHDDS % 90% Retinitis pigmentosa 59,

34 DHFR % 66% Megaloblastic anemia due to dihydrofolate reductase deficiency, DHH % 100% 46XY sex reversal 7, XY partial gonadal dysgenesis, with minifascicular neuropathy, DHODH % 98% Miller syndrome, DHTKD % 99% 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease, axonal, type 2Q, DIABLO % 93% Deafness, autosomal dominant 64, DIAPH % 95% Deafness,autosomal dominant 1, Seizures,cortical blindness,microcephaly syndrome, DIAPH % 95% Premature ovarian failure, DIAPH % 98% Auditory neuropathy, autosomal dominant, 1, DICER % 99% Pleuropulmonary blastoma, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, DIP2B % 97% Mental retardation, FRA12A type, DIS3L % 95% Perlman syndrome, DKC % 100% Dyskeratosis congenita, X-linked, DLAT % 100% Pyruvate dehydrogenase E2 deficiency, DLC % 100% Colorectal cancer,somatic, DLD % 100% Dihydrolipoamide dehydrogenase deficiency, DLG % 93% Mental retardation, X-linked 90, DLL % 75% Spondylocostal dysostosis 1,autosomal recessive, DLX % 96% Amelogenesis imperfecta,type IV, Trichodontoosseous syndrome, DMD % 99% Duchenne muscular dystrophy, Becker muscular dystrophy, Cardiomyopathy, dilated, 3B, DMGDH % 96% Dimethylglycine dehydrogenase deficiency,

35 DMP % 100% Acromesomelic dysplasia, Hunter-Thompson type, Brachydactyly, type C, Chondrodysplasia, Grebe type, Du Pan syndrome, Brachydactyly, type A2, Symphalangism, proximal, 1B, Multiple syno DMPK % 97% Myotonic dystrophy 1, DNA % 98% Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, DNAAF % 98% 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 % 91% Ciliary dyskinesia, primary, 9, with or without situs inversus, DNAJB % 98%?Charcot-Marie-Tooth disease,axonal, type 2T, Spinal muscular atrophy, distal, autosomal recessive,5, DNAJB % 72% Muscular dystrophy, limb-girdle, type 1E, DNAJC % 78% 3-methylglutaconic aciduria, type V, DNAJC % 89% Ceroid lipofuscinosis, neuronal, 4, Parry type, DNAJC % 98% 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 % 97% Charcot-Marie-Tooth disease, dominant intermediate B, Myopathy, centronuclear, Charcot-Marie-Tooth disease, axonal, type 2M, Lethal congenital contracture syndrome 5,

36 DNMT % 96% Neuropathy, hereditary sensory, type IE, DNMT3B % 97% Immunodeficiency-centromeric instability-facial anomalies syndrome 1, DOCK % 96% Adams-Oliver syndrome 2, DOCK % 98% Mental retardation, autosomal dominant 2, Hyper-IgE recurrent infection syndrome, autosomal recessive, DOK % 81% Myasthenia, limb-girdle, familial, Fetal akinesia deformation sequence, DOLK % 100% Congenital disorder of glycosylation, type Im, DPAGT % 98% Congenital disorder of glycosylation, type Ij, Myasthenic syndrome, congenital, with tubular aggregates 2, DPM % 90% Congenital disorder of glycosylation, type Ie, DPM % 95% Congenital disorder of glycosylation, type Iu, DPM % 100% Congenital disorder of glycosylation, type Io, DPP % 89% Mental retardation, autosomal dominant 33, {Ventricular fibrillation, paroxysmal familial, 2} DPY19L % 20% Spermatogenic failure, DPYD % 98% Dihydropyrimidine dehydrogenase deficiency, fluorouracil toxicity, DPYS % 99% Dihydropyrimidinuria, DRC % 97% Ciliary dyskinesia, primary, 21, DRD % 99% No OMIM phenotype DRD % 57% Autonomic nervous system dysfunction [Novelty seeking personality], {Attention deficit-hyperactivity disorder}, DRD % 47% Dystonia,primary cervical {Attention deficit-hyperactivity disorder,susceptibility to}, {Blepharospasm,primary benign}, DSC % 99% Arrhythmogenic right ventricular dysplasia 11 without/with mild palmoplantar keratoderma and woolly hair, DSC % 98%?Hypotrichosis and recurrent skin vesicles,613102

37 DSG % 100% Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE, Keratosis palmoplantaris striata I,AD, DSG % 98% Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, dilated, 1BB, DSG % 99% Hypotrichosis 6, DSP % 98% Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma and tooth agenesis, Epidermolysis bullosa,lethal acantholytic, Kerato DSPP % 96% Deafness,autosomal dominant 36,with dentinogenesis, Dentin dysplasia,type II, Dentinogenesis imperfecta, Shields type II, Dentinogenesis imperfecta, Shields type III, DST % 99% Neuropathy, hereditary sensory and autonomic, type VI, Epidermolysis bullosa simplex, sutosomal recessive 2, DTNA % 98% Left ventricular noncompaction 1, with or without congenital heart defects, DTNBP % 100% Hermansky-Pudlak syndrome 7, {Schizophrenia}, DUOX % 91% Thyroid dyshormonogenesis 6, DUOXA % 98% Thyroid dyshormonogenesis 5, DUSP % 98% Hypogonadotropic hypogonadism 19 with or without anosmia, DYM % 97% Dyggve-Melchior-Clausen disease, Smith-McCort dysplasia, Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, DYNC1H % 97% Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant, AD,

38 DYNC2H % 99% Short-rib thoracic dysplasia 3 with or without polydactyly, DYRK1A % 99% Mental retardation, autosomal dominant 7, DYSF % 98% Muscular dystrophy, limb-girdle, type 2B, Myopathy, distal, with anterior tibial onset, Miyoshi muscular dystrophy 1, DYX1C % 100% Ciliary dyskinesia, primary, 25, {Dyslexia, susceptibility to, 1}, EARS % 90% Combined oxidative phosphorylation deficiency 12, EBP % 98% Chondrodysplasia punctata, X-linked dominant, ECE % 96% Hirschprung disease,cardiac defects, and autonomic dysfunction, {Hypertension,essential,susceptibility to}, ECEL % 75% Arthrogryposis,distal,type 5D, ECM % 99% Urbach-Wiethe disease, EDA % 98% Ectodermal dysplasia 1,hypohidrotic,X-linked, Tooth agenesis,selective,x-linked 1, EDAR % 100% 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 11A,hypohidrotic/hair/tooth type, autosomal dominant, Ectodermal dysplasia 11B,hypohidrotic/hair/tooth type, autosomal recessive, EDN % 100% auriculocondylar syndrome 3, Question mark ears,isolated, {High density lipoprotein cholesterol level QTL 7} EDN % 100% Central hypoventilation syndrome congenital, Waardenburg syndrome, type 4B, {Hirshprung disease,susceptibility to,4}, EDNRA % 100% mandibulofacial dysostosis with alopecia, {Migraine, resistance to}, EDNRB % 98%?{Hirschsprung disease, susceptibility to}, ABCD syndrome,

39 Waardenburg syndrome, type 4A, EFEMP % 97% Doyne honeycomb degeneration of retina, EFEMP % 100% Cutis laxa,autosomal recessive,type IB, EFNB % 100% Craniofrontonasal dysplasia, EFTUD % 97% Mandibulofacial dysostosis, Guion-Almeida type, EGF % 100% Hypomagnesemia 4, renal, EGFR % 99% 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 % 70% Erythrocytosis,familial,3, [Hemoglobin,high altitude adaptation], EGR % 100% Charcot-Marie-Tooth disease,type 1D, Dejerine-Sottas disease, Neuropathy, congenital hypomyelinating, 1, EHMT % 95% Kleefstra syndrome, EIF2AK % 91% Wolcott-Rallison syndrome, EIF2AK % 98% Pulmonary venooclusive disease 2, EIF2B % 99% Leukoencephalopathy with vanishing white matter, EIF2B % 100% Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, EIF2B % 100% Leukoencephalopathy with vanishing white matter, EIF2B % 100% Leukoencephaly with vanishing white matter, Ovarioleukodystrophy, EIF2B % 100% Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, EIF4A % 94% Robin sequence with cleft mandible and limb abnormalities, EIF4G % 99% Parkinsons disease 18, ELAC % 99% {Prostate cancer, hereditary, 2, susceptibility to}, Combined oxidative phosphorylation deficiency 17,

40 ELANE % 94% Neutropenia, cyclic, Neutropenia, severe congenital 1, autosomal dominant, ELN % 98% Cutis laxa AD, Supravalvar aortic stenosis, ELOVL % 100% Stargardt disease 3, Macular dystrophy, autosomal dominant, chromosome 6-linked, Ichthyosis, spastic quadriplegia, and mental retardation, EMD % 99% Emery-Dreifuss muscular dystrophy 1, X-linked, EMG % 98% Bowen-Conradi syndrome, EMX % 100% Schizencephaly, ENAM % 100% Amelogenesis imperfecta type IB, Amelogenesis imperfecta type IC, ENG % 90% Telangiectasia,hereditary hemorrhagic,type 1, ENO % 93% Glycogen storage disease XIII, ENPP % 92% Arterial calcification,generalized,of infancy,1, Cole disease, Hypophosphatemic rickets,autosomal recessive,2, {Diabetes mellitus,non-insulin-dependent,susceptibility to}, {Obesity,susceptibility to}, ENTPD % 98% Spastic paraplegia 64,autosomal recessive, EOGT % 100% Adams-Oliver syndrome 4, EP % 98% Colorectal cancer, somatic, Rubinstein-Taybi syndrome 2, EPAS % 94% Erythrocytosis,familial,4, EPB % 100% Elliptocytosis-1, EPB % 96% Spherocytosis,type 5, EPCAM % 93% Colorectal cancer,hereditary nonpolyposis, type 8, Diarrhea 5,with tufting enteropathy,congenital, EPG % 99% Vici syndrome, EPHA % 94% Cataract 6, multiple types, EPHB % 97% {Prostate cancer/brain cancer susceptibility,somatic},603688

41 EPHX % 89%?Fetal hydantoin syndrome Diphenylhydantoin toxicity Hypercholanemia, familial, Preeclampsia, susceptibility to, EPM2A % 79% Epilepsy, progressive myoclonic 2A (Lafora), EPX % 96% [Eosinophil peroxidase deficiency], ERBB % 98% Adenocarcinoma of lung,somatic, Gastric cancer,somatic, Glioblastoma,somatic, Ovarian cancer,somatic ERBB % 99% Lethal congenital contractural syndrome 2, ERBB % 100% Amyotrophic lateral sclerosis 19, ERCC % 95% Cerebrooculofacioskeletal syndrome 4, ERCC % 96% Xeroderma pigmentosum, group D, Trichothiodystrophy, Cerebrooculofacioskeletal syndrome 2, ERCC % 99% Xeroderma pigmentosum, group B, Trichothiodystrophy, ERCC % 95% Xeroderma pigmentosum, group F, XFE progeroid syndrome, Fanconi anemia, complementation group Q, Xeroderma pigmentosum, type F/Cockayne syndrome, ERCC % 96% 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, susceptibility to}, 21 ERCC6L % 100% Bone marrow failure syndrome 2, ERCC % 100% Cockayne syndrome, type A, UV-sensitive syndrome 2, ERF % 100% Craniosynostosis 4,

42 ERLIN % 98% Spastic paraplegia 18, autosomal recessive, ESCO % 100% Roberts syndrome, SC phocomelia syndrome, ESPN % 57% Deafness, autosomal recessive 36, Deafness, neurosensory, without vestibular involvement, autosomal dominant ESR % 100% Estrogen resistance, {Breast cancer}, {Migraine,susceptibility to}, {Myocardial infarction,susceptibility to}, ESRRB % 80% Deafness, autosomal recessive 35, ETFA % 100% Glutaric acidemia IIA, ETFB % 100% Glutaric acidemia 2B, ETFDH % 100% Glutaric acidemia IIC, ETHE % 93% Ethylmalonic encephalopathy, ETV % 99% Leukemia,acute myeloid,somatic, Thrombocytopenia 5, EVC % 88% Ellis-van Creveld syndrome, Weyers acrodental dysostosis, EVC % 92% Ellis-van Creveld syndrome, Weyers acrodental dysostosis, EWSR % 79% Ewing sarcoma, Neuroepithelioma, EXOSC % 66% Pontocerebellar hypoplasia, type 1B, EXPH % 99% Epidermolysis bullosa,nonspecific,autosomal recessive, EXT % 98% Exostoses, multiple, type 1, Chondrosarcoma, EXT % 98% Exostoses, multiple, type 2, EYA % 99% Branchiootorenal syndrome 1, with or without cataracts, EYA % 100% Deafness, autosomal dominant 10, Cardiomyopathy, dilated, 1J, EYS % 100% Retinitis pigmentosa 25, EZH % 94% Weaver syndrome,

43 F % 98% Factor X deficiency, F % 96% Factor XI deficiency, F % 99% Factor XII deficiency, F13A % 97% Factor XIII deficiency, {Myocardial infarction,protection against}, {Venous thrombosis,protection against}, F13B % 100% Factor XIIIB deficiency, F % 88% Dysprothrombinemia, Hypoprothrombinemia, Thrombophilia due to thrombin defect, {Pregnancy loss,recurrent,susceptibility to,2}, {Stroke,ischemic,susceptibility to}, F % 99% Factor V deficiency, Thrombophilia due to activated prtein C resistance, {Budd-Chiari syndrome}, {Pregnancy loss,recurrent,susceptibility to,1}, {Stroke,ischemic,susceptibility to}, F % 95% Factor VII deficiency, {Myocardial infarction,decreased susceptibility to}, F % 99% Hemophilia A, F % 100% Hemophilia B, Thrombophilia,X-linked,due to factor IX defect}, {Warfarin sensitivity}, FA2H % 74% Spastic paraplegia 35, autosomal recessive, FADD % 98% Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, FAH % 97% Tyrosinemia, type I, FAM111A % 100% Gracile bone dysplasia, Kenny-Caffey syndrome,type 2, FAM111B % 98% Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy and pulmonary fibrosis, FAM126A % 100% Leukodystrophy, hypomyelinating, 5, FAM134B % 94% Neuropathy, hereditary sensory and autonomic, type IIB, FAM161A % 99% Retinitis pigmentosa 28,

44 FAM20A % 88% Amelogenesis imperfecta,type IG (enamel-renal syndrome), FAM20C % 85% Raine syndrome, FAM58A % 55% STAR syndrome, FAM83H % 95% Amelogenesis imperfecta type 3, FAN % 99% Interstitial nephritis,karyomegalic, FANCA % 97% Fanconi anemia, complementation group A, FANCB % 98% Fanconi anemia, complementation group B, FANCC % 95% Fanconi anemia, complementation group C, FANCD % 86% Fanconi anemia, complementation group D2, FANCE % 85% Fanconi anemia, complementation group E, FANCF % 100% Fanconi anemia, complementation group F, FANCG % 99% Fanconi anemia, complementation group G, FANCI % 99% Fanconi anemia, complementation group I, FANCL % 100% Fanconi anemia, complementation group L, FANCM % 99% Fanconi anemia, complementation group M, FARS % 96% Combined oxidative phosphorylation deficiency 14, FAS % 100% {Autoimmune lymphoproliferative syndrome}, FASLG % 90% Autoimmune lymphoproliferative syndrome, type IB, {Lung cancer, susceptibility to}, FAT % 100% Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, FBLN % 95% Synpolydactyly,3/3'4,associated with metacarpal and metatarsal synostoses, FBLN % 91% Cutis laxa,autosomal dominant 2, Cutis laxa,autosomal recessive,type IA, 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,

45 FBN % 98% Contractural arachnodactyly, congenital, FBP % 99% Fructose-1,6-bidphosphatase deficiency, FBXL % 100% Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), FBXO % 98% Neuronopathy,distal hereditary motor,type IID, FBXO % 97% Parkinson disease 15, autosomal recessive, FCGR3A % 46% Immunodeficiency 20, FCGR3B % 45% Neutropenia,alloimmune neonatal FCN % 94% Immunodeficiency due to ficolin 3 deficiency, FECH % 100% Protoporphyria, erythropoietic, autosomal recessive, FERMT % 98% Kindler syndrome, FERMT % 96% Leukocyte adhesion deficiency, type III, FGA % 98% Afibrinogenemia,congenital, Amyloidosis,familial visceral, Dysfibrinogenemia,congenital, Hypodysfibrinogenemia,congenital, FGB % 99% Afibrinogenemia,congenital, Dysfibrinogenemia,congenital, Hypofibrinogenemia,congenital, FGD % 94% Aarskog-Scott syndrome, Mental retardation, X-linked syndromic 16, FGD % 92% Charcot-Marie-Tooth disease, type 4H, FGF % 100% Aplasia of lacrimal and salivary glands, LADD syndrome, FGF % 100% Spinocerebellar ataxia 27, FGF % 99% Metacarpal 4-5 fusion, FGF % 100% Hypogonadotropic hypogonadism 20 with or without anosmia, FGF % 92% Hypophosphatemic rickets, autosomal dominant, Osteomalacia,tumor-induced Tumoral calcinosis,hyperphosphatemic,familial, FGF % 91% Deafness,congenital with inner ear agenesis,microtia and microdontia, FGF % 62% Hypogonadotropic hypogonadism 6 with or without anosmia,

46 FGF % 100%?Multiple synostoses syndrome 3, FGFR % 99% Pfeiffer syndrome, Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Trigonocephaly 1, Hartsfield syndrome, FGFR % 97% Crouzon syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Apert syndrome, Saethre-Chotzen syndrome, Craniosynostosis, nonspecific Gastri FGFR % 90% Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, type I, Crouzon syndrome with acanthosis nigricans, Muenke syndrome, Bladder cancer, somatic, Colorectal cancer, somatic, 1 FGG % 100% Afibrinogenemia,congenital, Dysfibrinogenemia,congenital, FH % 91% Fumarase deficiency, Leiomyomatosis and renal cell cancer, FHL % 91% Hemophagocytic lymphohistiocytosis, familial, 1 (2) FIG % 97%?Polymicrogyria,bilateral temporooccipital, Amyotrophic lateral sclerosis 11, Charcot-Marie-Tooth disease, type 4J, Yunis-Varon syndrome, FIGLA % 90% Premature ovarian failure, FKBP % 100% Bruck syndrome 1, Osteogenesis imperfecta type XI,610968

47 FKBP % 100% Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss, FKRP % 97% 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-girdl FKTN % 100% 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 dystrophy-d FLCN % 97% Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous, Renal carcinoma, chromophobe, somatic, Colorectal cancer, somatic, FLG % 88% Ichthyosis vulgaris, {Dermatitis,atopic,susceptibility to,2}, FLNA % 99% Heterotopia, periventricular, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Intestinal pseudoobstruction, neuronal, Melnick-Needles syndrome, Frontometaphyseal dysplasia, FLNB % 99% Atelosteogenesis,type I, Atelosteogenesis,type III, Boomerang dysplasia, Larsen syndrome, Spondylocarpotarsal synostosis syndrome, FLNC % 95% Myopathy, myofibrillar, 5, Myopathy, distal, 4, FLRT % 100% Hypogonadotropic hypogonadism 21 with or without anosmia, FLT % 96% Leukemia,acute lymphoblastic,somatic,613065

48 Leukemia,acute myeloid,reduced survival in,somatic, FLT % 95% Hemangioma,capillary infantile,somatic, Lymphedema,hereditary,IA, FLVCR % 100% Ataxia, posterior column, with retinitis pigmentosa, FLVCR % 94% Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, FMO % 100% Trimethylaminuria, FMR % 98% Fragile X syndrome, Fragile X tremor/ataxia syndrome, Premature ovarian failure 1, FN % 96% Glomerulopathy with fibronectin deposits 2, FOLR % 97% Neurodegeneration due to cerebral folate transport deficiency, FOXC % 83% Iridogoniodysgenesis, type 1, Rieger or Axenfeld anomalies, Axenfeld-Rieger syndrome, type 3, Iris hypoplasia and glaucoma, FOXC % 89% Lymphedema-distichiasis syndrome with/without renal disease and diabetes mellitus, FOXE % 79% Bamforth-Lazarus syndrome, FOXE % 33% Anterior segment mesenchymal dysgenesis, Aphakia, congenital primary, FOXF % 94% Alveolar capillary dysplasia with misalignment of pulmonary veins, FOXG % 76% Rett syndrome, congenital variant, FOXI % 100% Enlarged vestibular aqueduct, FOXL % 100% Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2, Premature ovarian failure 3, FOXN % 98% T-cell immunodeficiency, congenital alopecia, and nail dystrophy, FOXO % 77% Rhabdomyosarcoma,alveolar, FOXP % 100% Mental retardation with language impairment and autistic features, FOXP % 100% Speech-language disorder-1,

49 FOXP % 98% Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, FOXRED % 91% Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial complex I deficiency, FRAS % 97% Fraser syndrome, FREM % 99% Bifid nose with or without anorectal and renal anomalies, FREM % 99% Fraser syndrome, FRMD % 100% Nystagmus 1,congenital,X-linked, Nystagmus,infantile periodic alternating X-linked, FSCN % 100% Retinitis pigmentosa 30, FSHB % 100% Hypogonadotropic hypogonadism 24 without anosmia, FSHR % 100% Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome, Ovarian response to FSH stimulation, FTCD % 83% 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 % 91% Mental retardation, X-linked 9, FUCA % 99% Fucosidosis, FUS % 95% Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, Tremor, hereditary essential, 4, FUT % 74% Fucosyltransferase 6 deficiency, FUZ % 98% 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,

50 FZD % 100% Nail disorder,nonsyndromic,congenital 10 (claw-shaped nails), G6PC % 100% Glycogen storage disease Ia, G6PC % 100% Dursun syndrome, Neutropenia,severe congenital 4,autosomal recessive, G6PD % 95% Hemolytic anemia due to G6PD deficiency Favism, Resistance to malaria due to G6PD deficiency, GAA % 99% Glycogen storage disease II, GABRA % 99% Epileptic encephalopathy, early infantile, 19, {Epilepsy, childhood absence, susceptibility to, 4} {Epilepsy, juvenile myoclonic, susceptibility to, 5}, GABRB % 97% {Epilepsy,childhood absence, susceptibility to, 5}, Epileptic encephalopathy (Epi4K consortium, Nature Sep 12;501(7466):217-21) GABRG % 91% Epilepsy, generalized, with febrile seizures plus, type 3, Febrile seizures,familial,8, {Epilepsy,childhood absence,susceptibility to,2}, GAD % 99% Cerebral palsy, spastic quadriplegic, 1, GALC % 97% Krabbe disease, GALE % 100% Galactose epimerase deficiency, GALK % 96% Galactokinase deficiency with cataracts, GALNS % 93% Mucopolysaccharidosis IVA, GALNT % 99% Tumoral calcinosis, hyperphosphatemic, familial, GALT % 100% Galactosemia, GAMT % 90% Cerebral creatine deficiency syndrome 2, GAN % 98% Giant axonal neuropathy-1, GARS % 93% Charcot-Marie-Tooth disease, type 2D, Neuropathy,distal hereditary motor,type VA, GATA % 97% Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Leukemia, megakaryoblastic, with or without Down syndrome, somatic, Thrombocytopenia with beta-thalassemia, X-linked,

51 GATA % 93% Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, GATA % 97% Hypoparathyroidism, sensorineural deafness, and renal dysplasia, GATA % 59%?Testicular anomalies with or without congenital heart disease, Atrial septal defect 2, Atrioventricular septal defect 4, Tetralogy of Fallot, Ventricular septal defect 1, GATA % 74% Atrioventricular septal defect 5, Atrial septal defect 9, Pancreatic agenesis and congenital heart defects, Persistent truncus arteriosus, Tetralogy of Fallot, GATAD % 88% Cardiomyopathy, dilated, 2B, GATAD2B % 96% Mental retardation, autosomal dominant 18, GATM % 94% Cerebral creatine deficiency syndrome 3, GBA % 59% 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 % 93% Glycogen storage disease IV, Polyglucosan body disease, adult form, GCDH % 88% Glutaricaciduria, type I, GCH % 100% Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, Hyperphenylalaninemia, BH4-deficient, B, GCK % 100% MODY, type II, Diabetes mellitus, noninsulin-dependent, late onset, Diabetes mellitus, gestational, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal,

52 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 % 37% Glycine encephalopathy, GDAP % 100% Charcot-Marie-Tooth disease,axonal,type 2K, Charcot-Marie-Tooth disease,axonal,with vocal cord paresis, Charcot-Marie-Tooth disease,recessive intermediate,a, Charcot-Marie-Tooth disease, type 4A, GDF % 47% Double-outlet right ventricle, Tetralogy of Fallot, Transposition of great arteries, dextro-looped 3, Right atrial isomerism, GDF % 100% Telangiectasia, hereditary hemorrhagic, 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 A1,C, Brachydactyly,type A2, Brachydactyly,type C, Chondrodysplasia,Grebe type, Du Pan syndrome, Multiple synostoses syndrome 2, Symphalangis GDF % 100% Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia, isolated 4, Microphthalmia with coloboma 6, digenic, Leber congenital amaurosis 17, GDI % 100% Mental retardation, X-linked 41,

53 GDNF % 95% Central hypoventilation syndrome, {Pheochromocytoma, modifier of}, {Hirschsprung disease, susceptibility to, 3}, GFAP % 98% Alexander disease, GFER % 68% 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 % 98% Psuedoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors,combined deficiency of,1, GH % 68% Growth hormone deficiency,isolated,type IA, Growth hormone deficiency,isolated,type IB, Growth hormone deficiency,isolated,type II, Kowarski syndrome, GHR % 100% Growth hormone insensitivity,partial, Laron dwarfism, {Hypercholesterolemia,familial,modifier of}, GHRHR % 99% Growth hormone deficiency,isolated,type IB, GHSR % 100% Growth hormone deficiency,isolated partial, GIF % 98% Intrinsic factor deficiency, GIGYF % 99% {Parkinson disease 11}, GIPC % 97% Deafness, autosomal recessive 15, GJA % 78% Atrioventricular septal defect 3, Craniometaphyseal dysplasia, autosomal recessive, Erythrokeratodermia variabilis et progressiva, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Oculodentodigital dysplas GJA % 92% Cataract 14, multiple types,

54 GJA % 100% Atrial fibrillation, familial, 11, Atrial standstill, digenic, GJA % 96% Cataract 1, multiple types, GJB % 100% Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, GJB % 100% Bart-Pumphrey syndrome, Deafness,autosomal dominant 3A, Deafness,autosomal recessive 1A, Hystrix-like ichtyosis-deafness syndrome, Keratitis-ichtyosis-deafness syndrome, Keratoderma,palmoplantar,with deafness, Voh GJB % 100% Deafness autosomal dominant 2B, Deafness,digenic,GJB2/GJB3, Erythrokeratodermia variabilis et progressiva, 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, GJC % 81% Leukodystrophy, hypomyelinating, 2, Spastic paraplegia 44, autosomal recessive, Lymphedema, hereditary, IC, GK % 82% Glycerol kinase deficiency, GLA % 99% Fabry disease, Fabry disease, cardiac variant, GLB % 96% GM1-gangliosidosis, type I, GLDC 67 97% 85% Glycine encephalopathy, GLE % 97% Arthrogryposis,lethal,with anterior horn cell disease, Lethal congenital contracture syndrome 1, GLI % 94% Holoprosencephaly-9,

55 GLI % 100% Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Polydactyly, preaxial, type IV, Polydactyly, postaxial, types A1 and B, {Hypothalamic hamartomas, somatic}, GLIS % 99% Nephronophthisis 7, GLIS % 99% Diabetes mellitus, neonatal, with congenital hypothyroidism, GLMN % 99% Glomuvenous malformations, GLRA % 100% Hyperekplexia, hereditary 1, autosomal dominant or recessive, GLRB % 96% Hyperekplexia 2, autosomal recessive, GLRX % 69% Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, GLUD % 88% Hyperinsulinism-hyperammonemia syndrome, GLUL % 55% Glutamine deficiency, congenital, GLYCTK % 98% D-glyceric aciduria, GM2A % 100% GM2-gangliosidosis, AB variant, GMPPA % 100% Alacrima, achalasia and mental retardation syndrome, GMPPB % 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A,14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type GMPS % 98% Leukemia, acute myelogenous, GNA % 98% Hypocalcemia,autosomal dominant 2, Hypocalciuric hypercalcemia, type II, GNAI % 99% Pituitary ACTH-secreting adenoma Ventricular tachycardia,idiopathic, GNAI % 100% Auriculocondylar syndrome 1, GNAL % 92% Dystonia 25, GNAO % 98% Epileptic encephalopathy, early infantile, 17, GNAQ % 94% Capillary malformations,congenital,1, somatic,mosaic, Sturge-Weber syndrome, somatic, mosaic,185300

56 GNAS % 96% Pseudohypoparathyroidism Ia, McCune-Albright syndrome, Pseudohypoparathyroidism Ic, Osseous heteroplasia, progressive, Pseudohypoparathyroidism Ib, Prolonged bleeding time, brachydactyly and ment GNAT % 95% Night blindness, congenital stationary, autosomal dominant 3, GNAT % 100% Achromatopsia-4, GNB % 99% Charcot-Marie-Tooth disease, dominant intermediate F, GNE % 99% Sialuria, Inclusion body myopathy, autosomal recessive, Nonaka myopathy, GNMT % 100% 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 % 88% Hypogonadotropic hypogonadism 12 with or without anosmia, GNRHR % 100% Hypogonadotropic hypogonadism 7 with or without anosmia, GNS 88 96% 87% Mucopolysaccharidosis type IIID, GOLGA % 100% No OMIM phenotype GORAB % 100% Geroderma osteodysplasticum, GOSR % 97% Epilepsy, progressive myoclonic 6 GOT % 95% Aspartate aminotransferase, serum level of, QTL1, GP1BA % 95% Bernard-Soulier syndrome, type A1 (recessive), Bernard-Soulier syndrome, type A2 (dominant), von Willebrand disease,platelet-type, {Nonarteric anterior ischemic optic neuropathy,susceptibility to}, GP1BB % 45% Bernard-Soulier syndrome,type B, Giant platelet disorder,isolated, GP % 95% Bleeding disorder,platelet-type,11,614201

57 GP % 83% Bernard-Soulier syndrome,type C, GPC % 100% Simpson-Golabi-Behmel syndrome, type 1, Wilms tumor, somatic, GPC % 100% Omodysplasia 1, GPD % 98% Hypertriglyceridemia, transient infantile, GPD1L % 99% Brugada syndrome 2, GPHN % 100% Molybdenum cofactor deficiency, type C, GPI % 93% Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, GPR % 81% Nystagmus 6,congenital,X-linked, Ocular albinism, type I, Nettleship-Falls type, GPR % 99% Night blindness, congenital stationary (complete), 1E, autosomal recessive, GPR % 99% Polymicrogyria, bilateral frontoparietal, GPR % 99% Febrile seizures, familial, 4, Usher syndrome, type 2C, Usher syndrome, type 2C, GPR98/PDZD7 digenic, GPSM % 99% Chudley-McCullough syndrome, GRHL % 100% Deafness,autosomal dominant 28, Ectodermal dysplasia/short stature syndrome, GRHL % 98% Van der Woude syndrome 2, GRHPR % 64% Hyperoxaluria, primary, type II, GRIA % 97% Mental retardation, X-linked 94, GRIK % 96% Mental retardation, autosomal recessive, 6, GRIN % 94% Mental retardation, autosomal dominant 8, GRIN2A % 98% Epilepsy with neurodevelopmental defects, GRIN2B % 99% Mental retardation, autosomal dominant 6, GRIP % 96% Fraser syndrome, GRK % 100% Oguchi disease-2, GRM % 100% Spinocerebellar ataxia, autosomal recessive 13, GRM % 92% Night blindness, congenital stationary (complete), 1B, autosomal recessive, GRN % 100% Aphasia,primary progressive, Ceroid lipofuscinosis,neuronal,11, Frontotemporal lobar degeneration with ubiquitin-positive inclusions,

58 GRXCR % 100% Deafness, autosomal recessive 25, GSC % 70% Short stature,auditory canal atresia,mandibular hypoplasia,skeletal abnormalities, GSN % 89% Amyloidosis, Finnish type, Mucopolysaccharidosis type IIIC (Sanfilippo C), GSS % 99% Hemolytic anemia due to glutathione synthetase deficiency, GTF2H % 100% Trichothiodystrophy, complementation group A, GUCA1A % 59% 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 % 59% Glycogen storage disease XV, GYS % 91% Glycogen storage disease 0, muscle, GYS % 100% Glycogen storage disease, type 0, H6PD % 99% Cortisone reductase deficiency 1, HADH % 98% 3-hydroxyacyl-CoA dehydrogenase deficiency, Hyperinsulinemic hypoglycemia, familial, 4, HADHA % 92% LCHAD deficiency, Trifunctional protein deficiency, HELLP syndrome, maternal, of pregnancy, Fatty liver, acute, of pregnancy, HADHB % 98% Trifunctional protein deficiency, HAMP % 99% Hemochromatosis, type 2B, HARS % 98% Usher syndrome type 3B, HARS % 100% Perrault syndrome 2, HAX % 100% Neutropenia, severe congenital 3, autosomal recessive,

59 HBA % 51% Erythremias,alpha- Heinz body anemias,alpha-, Hemoglobin H disease,nondeletional, Methemoglobinemias,alpha- Thalassemias,alpha-, HBA % 45% Erythrocytosis Heinz body anemia, Hemoglobin H disease,nondeletional, Hypochromic microcytic anemia Thalassemia,alpha-, HBB % 100% Delta-beta thalassemia, Erythremias,beta- Heinz body anemias,beta-, Hereditary persistence of fetal hemoglobin, Thalassemia-beta,dominant inclusion body, Sickle cell anemia, Thalassemias,beta-, HBD % 100% Thalassemia due to Hb Lepore Thalassemia,delta- HBG % 24% Fetal hemoglobin quantitative trait locus 1, HBG % 81% Cyanosis,transient neonatal, Fetal hemoglobin quantitative trait locus 1, HCCS % 99% Microphthalmia, syndromic 7, HCFC % 94% Mental retardation, X-linked 3, HCN % 96% Sick sinus syndrome 2, Brugada syndrome 8, HCRT 42 77% 70%?Narcolepsy 1, HDAC % 90% Brachydactyly-mental retardation syndrome, HDAC % 97% Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, HDAC % 99% Wilson-Turner syndrome, Cornelia de Lange syndrome 5, HEATR % 74% Ciliary dyskinesia, primary, 18,

60 HEPACAM % 81% Megalencephalic leukeoencephalopathy with subcortical cysts 2A, Megalencephalic leukoncephalopathy with subcortical cysts 2B,remitting,with or without mental retardation, HERC % 60% Mental retardation, autosomal recessive 38, [Skin/hair/eye pigmentation 1, blond/brown hair], [Skin/hair/eye pigmentation 1, blue/nonblue eyes], HES % 53% Spondylocostal dysostosis 4,autosomal recessive, HESX % 99% Septooptic dysplasia, Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, HEXA % 96% Tay-Sachs disease, GM2-gangliosidosis, several forms, [Hex A pseudodeficiency], HEXB % 100% Sandhoff disease, infantile, juvenile, and adult forms, HFE % 97% Hemochromatosis, {Microvascular complications of diabetes 7}, {Porphyria variegata, susceptibility to}, {Porphyria cutanea tarda, susceptibility to}, {Alzheimer disease, susceptibility to}, [Transferr HFE % 92% Hemochromatosis type 2A HFM % 98% Premature ovarian failure 9, HGD % 100% Alkaptonuria, HGF % 96% Deafness, autosomal recessive 39, HGSNAT % 81% Mucopolysaccharidosis type IIIC (Sanfilippo C), HIBCH % 95% 3-hydroxyisobutryl-CoA hydrolase deficiency, HINT % 91% Neuromyotonia and axonal neuropathy, autosomal recessive, HK % 98% Hemolytic anemia due to hexokinase deficiency, 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,

61 HMOX % 99% Heme oxygenase-1 deficiency, Pulmonary disease, chronic obstructive, susceptibility to, HMX % 46% Oculoauricular syndrome, HNF1A % 97% MODY, type III, {Diabetes mellitus, noninsulin-dependent, 2}, {Diabetes mellitus, insulin-dependent}, Hepatic adenoma, somatic, Renal cell carcinoma, Diabetes mellitus, insulin-dependent, 20, HNF1B % 94% Diabetes mellitus,noninsulin-dependent, Renal cysts and diabetes syndrome, {Renal cell carcinoma}, HNF4A % 94% Fanconi renotubular syndrome 4,with maturity-onset diabetes of the young, MODY,type I, {Diabetes mellitus,noninsulin-dependent}, HNRNPA % 84%?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, Amyotrophic lateral sclerosis 20, HOGA % 94% Hyperoxaluria, primary, type III, HOXA % 100% Bosley-Salih-Alorainy syndrome, Athabaskan brainstem dysgenesis syndrome, HOXA % 100% Radioulnar synostosis with amegakaryocytic thrombocytopenia, HOXA % 64% Hand-foot-uterus syndrome, Guttmacher syndrome, HOXB % 90% Facial paresis,hereditary congenital 3, HOXC % 98% Ectodermal dysplasia 9 hair/nail type, HOXD % 100% Charcot-Marie-Tooth disease,foot deformity of, Vertical talus,congenital, HOXD % 92%?Brachydactyly-syndactyly syndrome, Brachydactyly type D, Brachydactyly,type E, Syndactyly,type V, Synpolydactyly with foot anomalies,286000

62 HPD % 100% Tyrosinemia, type III, Hawkinsinuria, HPGD % 96% Cranioosteoarthropathy, Digital clubbing,isolated congenital, Hypertrophic osteoarthropathy,primary,autosomal recessive 1, HPRT % 99% HPRT-related gout, Lesch-Nyhan syndrome, HPS % 94% Hermansky-Pudlak syndrome 1, HPS % 97% Hermansky-Pudlak syndrome 3, HPS % 98% Hermansky-Pudlak syndrome 4, HPS % 96% Hermansky-Pudlak syndrome 5, HPS % 81% Hermansky-Pudlak syndrome 6, HPSE % 99% Urofacial syndrome 1, HR % 93% Alopecia universalis, Atrichia with papular lesions, Hypotrichosis 4, HRAS % 100% {Bladder cancer, somatic}, Costello syndrome, {Thyroid carcinoma, follicular, somatic}, Congenital myopathy with excess of muscle spindles, {Nevus sebaceous, somatic}, Schimmelpenning-Feuerstein-M HRG % 93% Thrombophilia due to elevated HRG, Thrombophilia due to HRG deficiency, HSD11B % 98% Cortisone reductase deficiency 2, HSD11B % 78% Apparent mineralocorticoid excess, HSD17B % 94% 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, X-linked syndromic 10, Mental retardation, X-linked 17/31, microduplication, HSD17B % 98% Pseudohermaphroditism, male, with gynecomastia, HSD17B % 95% D-bifunctional protein deficiency, Perrault syndrome 1, HSD3B % 79% 3-beta-hydroxysteroid dehydrogenase, type II, deficiency,

63 HSD3B % 75% Bile acid synthesis defect, congenital, 1, HSF % 97% Cataract 5, multiple types, HSPB % 80% Charcot-Marie-Tooth disease,axonal,type 2F, Neuropathy, distal hereditary motor, type IIB, HSPB % 100%?Neuronopathy, distal hereditary motor, type IIC, HSPB % 100% Charcot-Marie-Tooth disease,axonal,type 2L, Neuropathy, distal hereditary motor, type IIA, HSPD % 37% Spastic paraplegia 13, autosomal dominant, Leukodystrophy, hypomyelinating, 4, HSPG % 95% Schwartz-Jampel syndrome, type 1, Dyssegmental dysplasia, Silverman-Handmaker type, HTR1A % 100% Periodic fever,menstrual cycle dependent, HTRA % 77% CARASIL syndrome, {Macular degeneration,age-related,7}, {Macular degeneration,age-related,neovascular type}, HTRA % 99% {Parkinson disease 13}, HTT % 96% Huntington disease, HUWE % 98% Mental retardation, X-linked syndromic, Turner type, HYAL % 95% Mucopolysaccharidosis type IX, HYDIN % 87% Ciliary dyskinesia, primary, 5, HYLS % 100% Hydrolethalus syndrome, ICK % 100% Endocrine-cerebroosteodysplasia, ICOS % 100% Immunodeficiency, common variable, 1, IDH % 93% D-2-hydrosyglutaric aciduria 2, IDH3B % 100% Retinitis pigmentosa 46, IDS % 88% Mucopolysaccharidosis II, IDUA % 85% Mucopolysaccharidosis Ih, Mucopolysaccharidosis Is, Mucopolysaccharidosis Ih/s, IER3IP % 83% Microcephaly, epilepsy, and diabetes syndrome, IFITM % 97% Osteogenesis imperfecta,type V, IFNGR % 100% Mycobacterial infection, atypical, familial disseminated, IFT % 95% Cranioectodermal dysplasia 1,

64 IFT % 91% Mainzer-Saldino syndrome, IFT % 98% Short-rib thoracic dysplasia 10 with or without polydactyly, IFT % 100% Cranioectodermal dysplasia 3, IFT % 93% Short-rib thoracic dysplasia 2 with or without polydactyly, IGBP % 87% 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 % 100% Insulin-like growth factor I,resistance to, IGF2R % 97% Hepatocellular carcinoma,somatic, IGFALS % 95% Acid-labile subunit,deficiency of, IGFBP % 45% Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, IGHMBP % 87% Neuronopathy, distal hereditary motor, type VI, IGLL % 51% Agammaglobulinemia 2, IGSF % 99% Hypothyroidism,central,and testicular enlargement, IHH % 100% Acrocaptiofemoral dysplasia, Brachydactyly,type A1, IKBKAP % 99% Dysautonomia, familial, IKBKB % 94% Immunodeficiency 15, IKBKG % 26% Incontinentia pigmenti, type II, Ectodermal dysplasia, hypohidrotic, with immune deficiency, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, isolated, {Atypical mycobact IKZF % 100% Leukemia,acute lymphoblastic Systemic lupus erythematosus, association with (Han (2009) Nat Genet 41,1234) IL10RA % 99% Inflammatory bowel disease 28, early onset, autosomal recessive, IL10RB % 95% Inflammatory bowel disease 25, early onset, autosomal recessive, {Hepatitis B virus, susceptibility to},

65 IL11RA % 98% Craniosynostosis and dental anomalies, IL17F % 95% Candidiasis, familial, 6, autosomal dominant, IL17RA % 89% Candidiasis, familial, 5, autosomal recessive, IL17RD % 96% Hypogonadotropic hypogonadism 18 with or without anosmia, IL1RAPL % 100% Mental retardation, X-linked 21/34, IL1RN % 100% {Gastric cancer risk after H. pylori infection}, IL21R % 100% Immunodeficiency, primary, autosomal recessive, IL21R-related, [IgE, elevated level of], IL2RA % 100% Interleukin-2 receptor, alpha chain, deficiency of, IL2RG % 99% Severe combined immunodeficiency, X-linked, IL31RA % 97% Amyloidosis,primary localized cutaneous 2, IL36RN % 100% Psoriasis, generalized pustular, IL7R % 99% 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 % 69% Retinitis pigmentosa 10, Leber congenital amaurosis 11, IMPG % 99% Retinitis pigmentosa 56, Maculopathy, IMPG2-related, INF % 87% Glomerulosclerosis, focal segmental, 5, Charcot-Marie-Tooth disease,dominant intermediate E, ING % 94% Squamous cell carcinoma,head and neck,somatic, INPP5E % 97% Joubert syndrome 1, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, INPPL % 95% Opsismodysplasia, INS % 82% Diabetes mellitus,insulin-dependent 2, Diabetes mellitus,permanent neonatal, Hyperproinsulinemia, Maturity-onset diabetes of the young,type 10, INSL % 69% Cryptorchidism,219050

66 INSR % 96% Leprechaunism, INVS % 98% Nephronophthisis 2, infantile, IQCB % 88% Senior-Loken syndrome 5, IQSEC % 86% Mental retardation, X-linked 1, IRAK % 100% IRAK4 deficiency, IRF % 100% Gastric cancer,somatic, Myelodysplastic syndrome,preleukemic Myelogenous leukemia,acute Nonsmall cell lung cancer,somatic, IRF % 100% Multiple myeloma, [Skin/hair/eye pigmentation, variation in,8], IRF % 93% Orofacial cleft 6, Popliteal pterygium syndrome 1, van der Woude syndrome, IRF % 92% Monocyte and dendritic cell deficiency, recessive, IRGM % 100% Inflammatory bowel disease 19, {Mycobacterium tuberculosis,protection against}, IRX % 85% Hamamy syndrome, ISCU % 90% Myopathy with lactic acidosis, hereditary, ISPD % 92% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, ITCH % 95% Autoimmune disease, syndromic multisystem, ITGA2B % 93% Bleeding disorder,platelet-type,16,autosomal dominant, Glanzmann thrombasthenia, Thrombocytopenia,neonatal alloimmune,bak antigen related ITGA % 92% Interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, congenital, ITGA % 99% Epidermolysis bullosa,junctional, with pyloric stenosis, ITGA % 94% Muscular dystrophy, congenital, due to ITGA7 deficiency, ITGA % 99% Renal hypodysplasia/aplasia 1, ITGB % 97% Leukocyte adhesion deficiency,

67 ITGB % 99% Bleeding disorder,platelet-type 16,autosomal dominant, Glanzmann thrombasthenia, Purpura,posttransfusion Thrombocytopenia,neonatal alloimmune {Myocardial infarction,susceptibility to}, ITGB % 93% Epidermolysis bullosa of hands and feet, Epidermolysis bullosa,junctional,non-herlitz type, Epidermolysis bullosa,junctional,with pyloric atresia, ITK % 100% Lymphoproliferative syndrome 1, ITM2B % 100%?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, Dementia,familial British, Dementia,familial Danish, ITPR % 98% Spinocerebellar ataxia 15, Spinocerebellar ataxia 29, congenital nonprogressive, IVD % 88% Isovaleric acidemia, IYD % 97% Thyroid dyshormonogenesis 4, JAG % 97% Alagille syndrome, JAK % 100% Erythrocytosis,somatic, Leukemia,acute myelogenous, Myelofibrosis,somatic, Polycythemia vera, Thrombocythemia 3, {Budd-Chiari syndrome}, JAK % 94% SCID, autosomal recessive, T-negative/B-positive type, JAM % 90% Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, JPH % 85% Cardiomyopathy, familial hypertrophic 17, JPH % 99% Huntington disease-like 2, JUP % 99% Arrhythmogenic right ventricular dysplasia 12, Naxos disease, KAL % 92% Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), KANK % 100% Cerebral palsy, spastic quadriplegic, 2,

68 KANSL % 64% Koolen-De Vries syndrome, KARS % 100%?Charcot-Marie-Tooth disease, recessive intermediate, B, Deafness,autosomal recessive 89, KAT6B % 99% SBBYSS syndrome, Genitopatellar syndrome, KBTBD % 91% Nemaline myopathy 6, autosomal dominant, KCNA % 100% Episodic ataxia/myokymia syndrome, KCNA % 96% Atrial fibrillation, familial, 7, KCNC % 61% Spinocerebellar ataxia 13, KCND % 96% 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, KCNE % 100% Brugada syndrome 6, KCNH % 85% Long QT syndrome-2, {Long QT syndrome-2, acquired, susceptibility to}, Short QT syndrome-1, KCNJ % 100% Bartter syndrome, type 2, KCNJ % 100% SESAME syndrome, KCNJ % 100% Hyperinsulinemic hypoglycemia, familial, 2, Diabetes, permanent neonatal, Diabetes mellitus, permanent neonatal, with neurologic features, {Diabetes mellitus, type 2, susceptibility to}, Diabetes mellitus, t KCNJ % 100% Leber congenital amaurosis 16, Snowflake vitreoretinal degeneration, KCNJ % 96% Andersen syndrome, Short QT syndrome-3, Atrial fibrillation, familial, 9, KCNJ % 100% Long QT syndrome 13, Hyperaldosteronism, familial, type III, KCNK % 91% Pulmonary hypertension,primary 4,615344

69 KCNK % 100% Birk-Barel mental retardation dysmorphism syndrome, KCNMA % 96% Generalized epilepsy and paroxysmal dyskinesia, KCNQ % 84% 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 % 94% Seizures, benign neonatal, 1, Myokymia, Epileptic encephalopathy, early infantile, 7, KCNQ % 95% Seizures, benign neonatal, type 2, KCNQ % 81% ness, autosomal dominant 2A, KCNT % 89% Epileptic encephalopathy, early infantile, 14, Epilepsy, nocturnal frontal lobe, 5, KCNV % 99% Retinal cone dystrophy 3B, KCTD % 96% Scalp-ear-nipple syndrome, KCTD % 71% Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, KDM5C % 100% Mental retardation, X-linked, syndromic, Claes-Jensen type, KDM6A % 99% Kabuki syndrome 2, KDR % 99% Hemangioma,capillary infantile,somatic, KERA % 100% Cornea plana congenita, recessive, KHDC3L % 100% Hydatidiform mole,recurrent,2, KIAA % 98% Spastic paraplegia 8, autosomal dominant, KIAA % 97% Goldberg-Shprintzen megacolon syndrome, KIAA % 100% Mental retardation, X-linked 98, KIF % 98% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, KIF1A % 95% Spastic paraplegia 30, autosomal recessive, Neuropathy, hereditary sensory, type IIC, Mental retardation, autosomal dominant 9, KIF1B % 100% Charcot-Marie-Tooth disease, type 2A1, Pheochromocytoma,

70 {Neuroblastoma, susceptibility to, 1}, KIF1C % 96% Spastic ataxia 2,autosomal recessive, KIF21A % 99% Fibrosis of extraocular muscles,congenital,1, Fibrosis of extraocular muscles,congenital,3b, KIF % 99% Spondyloepimetaphyseal dysplasia with joint laxity,type 2, KIF2A % 99% Cortical dysplasia,complex,with other brain malformations 3, KIF5A % 98% Spastic paraplegia 10, autosomal dominant, KIF % 89% Hydrolethalus syndrome 2, KIRREL % 95% Mental retardation, autosomal dominant 4, KISS % 82% Hypogonadotropic hypogonadism 13 with or without anosmia, KISS1R % 92% Hypogonadotropic hypogonadism 8 with or without anosmia, ?Precocious puberty,central,1, KIT % 98% Piebaldism, Gastrointestinal stromal tumor, familial, Mast cell disease, Leukemia, acute myeloid, Germ cell tumors, KITLG % 98% Hyperpigmentation familial progressive 2, [Skin/hair/eye pigmentation 7], KL % 95% Tumoral calcinosis, hyperphosphatemic, KLF % 91% 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% Gastric cancer,somatic, Prostate cancer,somatic, KLHDC8B % 84% {Hodgkin lymphoma,susceptibility to}, KLHL % 100% Spermatogenic failure 11, KLHL % 94% Pseudohypoaldosteronism,type IID, KLHL % 100% Nemaline myopathy 8,autosomal recessive,615348

71 KLHL % 100% Nemaline myopathy 9, KLHL % 100% Retinitis pigmentosa 42, KLK % 100% Amelogenesis imperfecta type IIA1, KLKB % 100% Fletcher factor (prekallikrein) deficiency, KLLN % 100% Cowden syndrome 4, KMT2A % 98% Leukemia, myeloid/lymphoid or mixed-lineage, Wiedemann-Steiner syndrome, KMT2D % 98% Kabuki syndrome 1, KPTN % 99% Mental retardation, autosomal recessive 41, KRAS % 89% Noonan syndrome 3, Bladder cancer, somatic, Breast cancer, somatic, Cardiofaciocutaneous syndrome 2, Gastric cancer, somatic, Lung cancer, somatic, Pancreatic carcinoma, somatic, SFM syndrome, somati KRIT % 99% Cavernous malformations of CNS and retina, Cerebral cavernous malformations-1, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, KRT % 100% Epidermolytic hyperkeratosis, Ichthyosis histrix,curth-macklin type, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Keratosis palmoplantaris striata III, Palmoplantar keratoderma,epidermolytic, Palmoplantar kerat KRT % 85% Epidermolytic hyperkeratosis, Ichthyosis with confetti, Ichthyosis,cyclic,with epidermolytic hyperkeratosis, KRT % 94% Meesmann corneal dystrophy, KRT % 100% White sponge nevus 2,615785

72 KRT % 51% Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex,dowling-meara type, Epidermolysis bullosa simplex,koebner type, Epidermolysis bullosa simplex,recessive 1, Epidermolysis bullosa simplex,weber-cockayne type,13 KRT % 10% Pachyonychia congenita 1, Palmoplantar keratoderma,nonepidermolytic,focal, KRT % 10% Pachyonychia congenita 2, Steatocystoma multiplex, KRT % 44% Cirrhosis,cryptogenic, {Cirrhosis,noncryptogenic,susceptibility to}, KRT % 97% Ichthyosis bullosa of Siemens, KRT % 99% Meesmann corneal dystrophy, KRT % 99% White sponge nevus 1, KRT % 95% Dowling-Degos disease 1, Epidermolysis bullosa simplex,dowling-meara type, Epidermolysis bullosa simplex,koebner type, Epidermolysis bullosa simplex,recessive 1, Epidermolysis bullosa simplex,weber-cockayne type, Epiderm KRT6A % 46% Pachyonychia congenita 3, KRT6B % 44% Pachyonychia congenita Jackson-Lawler type, KRT6C 26 51% 41% Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, KRT % 83%?Ectodermal dysplasia 7, hair/nail type,614929?hypotrichosis 3, Woolly hair, autosomal dominant, KRT % 63% Cirrhosis,cryptogenic, {Cirrhosis,noncryptogenic,susceptibility to}, KRT % 43% Monilethrix, KRT % 48% Monilethrix, KRT % 64% Ectodermal dysplasia 4 hair/nail type, KRT % 56% Monilethrix, KRT % 93% Epidermolytic palmoplantar keratoderma,144200

73 L1CAM % 99% Hydrocephalus due to aqueductal stenosis, MASA syndrome, CRASH syndrome, Hydrocephalus with Hirschsprung disease, Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, Corpus cal L2HGDH % 93% L-2-hydroxyglutaric aciduria, LAMA % 98% Muscular dystrophy, congenital merosin-deficient, Muscular dystrophy, congenital, due to partial LAMA2 deficiency, LAMA % 99% Epidermolysis bullosa,generalized atrophic benign, Epidermolysis bullosa,junctional,herlitz type, Laryngoonychocutaneous syndrome, LAMA % 99% Cardiomyopathy, dilated, 1JJ, LAMB % 99% Lissencephaly 5, LAMB % 100% Nephrotic syndrome, type 5, with or without ocular abnormalities, Pierson syndrome, LAMB % 96% Amelogenesis imperfecta,type IA, 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 % 95% Cortical malformations, occipital, LAMP % 99% Danon disease, LAMTOR % 100% Immunodeficiency due to defect in MAPBP-interacting protein, LARGE % 94% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, LARP % 99% Alazami syndrome, LARS % 100% Perrault syndrome 4, LBR % 100%?Reynolds syndrome, Greenberg skeletal dysplasia, Pelger-Huet anomaly,169400

74 LCA % 99% Leber congenital amaurosis 5, LCAT % 88% Norum disease, LCT % 99% Lactase deficiency, congenital, LDB % 92% Myopathy, myofibrillar, 4, Cardiomyopathy, dilated 1C, Left ventricular noncompaction 3, with or without dilated cardiomyopathy, LDHA 51 70% 58% Glycogen storage disease XI, LDHB % 99% Lactate dehydrogenase-b deficiency, LDLR % 98% Hypercholesterolemia,familial, LDL cholesterol level QTL2, LDLRAP % 87% Hypercholesterolemia,familial,autosomal recessive, LEF % 100% Sebaceous tumors,somatic LEFTY % 65% Left-right axis malformations (Koasaki (1999) Am J Hum Genet 64, 712) LEMD % 98% Buschke-Ollendorff syndrome, Melorheostosis with osteopoikilosis, Osteopoikilosis, LEP % 100% Obesity,morbid,due to leptin deficiency, LEPR % 93% Obesity,morbid,due to leptin receptor deficiency, LEPREL % 88% Myopia,high,with cataract and vitreoretinal degeneration, LFNG % 78% Spondylocostal dysostosis, autosomal recessive 3, LGI % 100% Epilepsy, familial temporal lobe, 1, LHB % 53% Hypogonadotropic hypogonadism 23 with or without anosmia, LHCGR % 96% Leydig cell adenoma,somatic,with precocious puberty, Leydig cell hypoplasia with hypergonadotropic hypogonadism, Leydig cell hypoplasia with pseudohermaphroditism, Luteinizing hormone resistance,female, Precocious puberty,male, LHFPL % 100% Deafness, autosomal recessive 67, LHX % 87% Pituitary hormone deficiency,combined,3, LHX % 99% Pituitary hormone deficiency,combined,4,262700

75 LIAS % 100% Pyruvate dehydrogenase lipoic acid synthetase deficiency, LIFR % 98% Stuve-Wiedemann syndrome/schwartz-jampel type 2 syndrome, LIG % 91% DNA ligase I deficiency LIG % 100% LIG4 syndrome, {Multiple myeloma, resistance to}, Severe combined immunodeficiency with sensitivity to ionizing radiation, LIM % 76% Cataract 19, LINS % 100% Mental retardation, autosomal recessive 27, LIPA % 95% 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 7, Woolly hair,autosomal recessive 2,with or without hypotrichosis LIPN % 100% Ichthyosis,congenital,autosomal recessive 8, LITAF % 89% Charcot-Marie-Tooth disease, type 1C, LMAN % 99% Combined factor V and VIII deficiency, LMBR % 95% Acheiropody, Hypoplastic or aplastic tibia with polydactyly, Laurin-Sandrow syndrome, Polydactyly,preaxial type II, Syndactyly,type IV, Triphalangeal thumb type I, LMBRD % 100% Methylmalonic aciduria and homocystinuria, cblf type, LMF % 97% Lipase deficiency,combined, LMNA % 90% 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,

76 Muscular dystrophy, congenita LMNB % 87% Leukodystrophy,adult-onset,autosomal dominant, LMX1B % 96% Nail-patella syndrome, LOR % 78% Vohwinkel syndrome with ichthyosis, LOXHD % 99% Deafness, autosomal recessive 77, LPAR % 100% Hypotrichosis 8, Woolly hair,autosomal recessive 1,with or without hypotrichosis, LPIN % 97% Myoglobinuria, acute recurrent, autosomal recessive, LPIN % 98% Majeed syndrome, LPL % 100% Lipoprotein lipase deficiency, Combined hyperlipidemia, familial, [High density lipoprotein cholesterol level QTL 11] LPP % 99% Leukemia,acute myeloid, Lipoma 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 % 93% Night blindness, congenital stationary (complete), 1F, autosomal recessive, LRP % 99% Donnai-Barrow syndrome, LRP % 97% Cenani-Lenz syndactyly syndrome, Sclerosteosis 2,

77 LRP % 94% Osteoporosis-pseudoglioma syndrome, [Bone mineral density variability 1], Hyperostosis, endosteal, van Buchem disease, type 2, Osteosclerosis, {Osteoporosis}, Exudative vitreoretinopathy 4, LRPAP % 92% 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 % 98% Charcot-Marie-Tooth disease, axonal, type 2P, LRTOMT % 85% Deafness, autosomal recessive 63, LTBP % 95% Glaucoma 3,primary congenital,d, Microspherophakia and/or megalocornea,with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome 3,recessive, LTBP % 94% Dental anomalies and short stature, LTBP % 88% Cutis laxa autosomal recessive type IC, LYST % 97% Chediak-Higashi syndrome, LYZ % 100% Amyloidosis, renal, LZTFL % 99% Bardet-Biedl syndrome 17, LZTS % 98% Esophageal squamous cell carcinoma, MAD1L % 90% Lymphoma,somatic Prostate cancer,somatic, MAF % 72% Cataract, pulverulent or cerulean, with or without microcornea, MAFB % 100% Multicentric carpotarsal osteolysis syndrome, MAGEL % 100% Prader-Willi-like syndrome, MAGT % 98% Mental retardation, X-linked 95, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MAK % 94% Retinitis pigmentosa 62, MAML % 100% Mucoepidermoid salivary gland carcinoma

78 MAMLD % 100% Hypospadias 2,X-linked, MAN1B % 97% Mental retardation, autosomal recessive 15, MAN2B % 93% Mannosidosis, alpha-, types I and II, MANBA % 98% Mannosidosis, beta, MAOA % 100% Brunner syndrome, MAP2K % 91% Cardiofaciocutaneous syndrome 3, MAP2K % 92% Cardiofaciocutaneous syndrome 4, MAP3K % 89% 46XY sex reversal 6, MAP3K % 99% Lung cancer,somatic, MAPT % 39% Dementia,frontotemporal,with or without parkinsonism, Pick disease, Supranuclear palsy,progressive, Supranuclear palsy,progressive atypical, {Parkinson disease,susceptibility to}, MARS % 100% Spastic ataxia 3, autosomal recessive, MARVELD % 96% Deafness, autosomal recessive 49, MASP % 99% 3MC syndrome 1, MASP % 92% MASP2 deficiency, MASTL % 100%?Thrombocytopenia 2, MAT1A % 95% Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, Methionine adenosyltransferase deficiency, autosomal recessive, MATN % 84% Epiphyseal dysplasia,multiple,5, MATR % 96% Myopathy, distal 2, MBD % 100% Mental retardation, autosomal dominant 1, MBTPS % 100% 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,somatic, MCCC % 98% 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MCCC % 91% 3-Methylcrotonyl-CoA carboxylase 2 deficiency,

79 MCEE % 100% Methylmalonyl-CoA epimerase deficiency, MCFD % 96% Factor V and factor VIII,combined deficiency of, MCM % 98% Natural killer cell and glucocorticoid deficiency with DNA repair defect, MCM % 99% Lactase persistence/nonpersistence, MCOLN % 95% Mucolipidosis IV, MCPH % 100% Microcephaly 1, primary, autosomal recessive, MECP % 99% Rett syndrome, Mental retardation, X-linked, syndromic 13, Rett syndrome, preserved speech variant, Encephalopathy, neonatal severe, {Autism susceptibility, X-linked 3}, Angelman syndrome, MED % 94% Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, X-linked, MED13L % 97% Transposition of the great arteries, dextro-looped 1, MED % 97% Microcephaly, postnatal progressive, with seizures and brain atrophy, MED % 99% Mental retardation, autosomal recessive 18, MED % 88%?Charcot-Marie-Tooth disease, type 2B2, Basel-Vanagait-Smirin-Yosef syndrome, MEF2C % 99% Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, Chromosome 5q14.3 deletion syndrome, MEFV % 96% Familial Mediterranean fever, AR, MEGF % 97% Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, MEGF % 95% Carpenter syndrome 2, MEN % 96% Multiple endocrine neoplasia 1, Carcinoid tumor of lung Parathyroid adenoma, somatic Lipoma, somatic Angiofibroma, somatic

80 Adrenal adenoma, somatic MEOX % 100% Klippel-Feil syndrome 2, MERTK % 98% Retinitis pigmentosa 38, MESP % 97% Spondylococostal dysostosis 2,autosomal recessive, MET % 100% papillary renal cell cancer MFN % 98% Charcot-Marie-Tooth disease, type 2A2, Hereditary motor and sensory neuropathy VIA, MFRP % 96% 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, MIB % 100% Left ventricular noncompaction 7, MICU % 100% Myopathy with extrapyramidal signs, MID % 99% Opitz GBBB syndrome, type I, MINPP % 100% Thyroid carcinoma, follicular, MIP % 100% Cataract 15, multiple types, MITF % 100% Tietz albinism-deafness syndrome, Waardenburg syndrome, type 2A, Waardenburg syndrome/ocular albinism, digenic, {Melanoma,cutaneous malignant,susceptibility to 8}, MKKS % 89% Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, MKL % 92% Megakaryoblastic leukemia,acute MKRN % 100% Precocious puberty,central,2, MKS % 96% Bardet-Biedl syndrome 13, Meckel syndrome 1, MLC % 99% Megalencephalic leukoencephalopathy with subcortical cysts,604004

81 MLH % 98% Colorectal cancer, hereditary nonpolyposis, type 2, Mismatch repair cancer syndrome, Muir-Torre syndrome, MLH % 96% Colorectal cancer,hereditary nonpolyposis,type 7, Colorectal cancer,somatic, {Endometrial cancer,susceptibility to}, MLLT % 96% Leukemia,acute myeloid, MLLT % 100% Leukemia,acute myelomonocytic,somatic, MLPH 87 95% 88% Griscelli syndrome type 3, MLYCD % 84% Malonyl-CoA decarboxylase deficiency, MMAA % 100% Methylmalonic aciduria, vitamin B12-responsive, MMAB % 89% Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type, MMACHC % 100% Methylmalonic aciduria and homocystinuria, cblc type, MMADHC % 89% Homocystinuria, cbid type, MMP % 100% COPD,rate of decline of lung function in, {Epidermolysis bullosa dystrophica,autosomal recessive,modifier of}, MMP % 90% Metaphyseal anadysplasia 1, Spondyloepimetaphyseal dysplasia,missouri type, MMP % 99% Torg-Winchester syndrome, MMP % 100% Amelogenesis imperfecta type IIA2, MMP % 91% Metaphyseal anadysplasia 2, MN % 98% Meningioma, MNX % 63% Currarino syndrome, MOCS % 92% Molybdenum cofactor deficiency, type A, MOCS % 99% Molybdenum cofactor deficiency, type B, MOG % 24%?Narcolepsy 7, MOGS % 100% Congenital disorder of gycosylation, type 2b, MPC % 100% Mitochondrial pyruvate carrier deficiency, MPDU % 99% Congenital disorder of glycosylation, type If, MPDZ % 97% Hydrocephalus, nonsyndromic, autosomal recessive 2, MPI % 95% Congenital disorder of glycosylation, type Ib,

82 MPL % 95% 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} Cardiomyopathy, dilated, 1T, MPV % 100% Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPZ % 100% Charcot-Marie-Tooth disease,dominant intermediate D, Charcot-Marie-Tooth disease, type 1B, Charcot-Marie-Tooth disease, type 2I, Charcot-Marie-Tooth disease, type 2J, Dejerine-Sottas disease, Neuropathy,congenital hy MR % 88% Paroxysmal nonkinesigenic dyskinesia, MRAP % 100% Glucocorticoid deficiency 2, MRE11A % 99% Ataxia-telangiectasia-like disorder, MRPL % 96% 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 % 97% Colorectal cancer, hereditary nonpolyposis, type 1, Muir-Torre syndrome, Mismatch repair cancer syndrome, MSH % 99% Endometrial carcinoma,somatic, MSH % 100% Colorectal cancer, hereditary nonpolyposis, type 5, Endometrial cancer, familial, Mismatch repair cancer syndrome, MSR % 99% Barett esophagus/esophageal adenocarcinoma, Prostate cancer,hereditary, MSRB % 100% Deafness, autosomal recessive 74, MSTN % 100% Muscle hypertrophy,

83 MSX % 78% Ectodermal dysplasia 3,Witkop type, Orofacial cleft 5, Tooth agenesis,selective,1,with or without orofacial cleft, MSX % 70% Craniosynostosis, type 2, Parietal foramina 1, Parietal foramina with cleidocranial dysplasia, MTAP % 75% Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MTFMT % 100% Combined oxidative phosphorylation deficiency 15, MTHFR % 98% Homocystinuria due to MTHFR deficiency, {Neural tube defects, susceptibility to}, {Schizophrenia, susceptibility to}, {Thromboembolism, susceptibility to}, {Vascular disease, susceptibility to} MTM % 100% Myotubular myopathy, X-linked, MTMR % 98% Charcot-Marie-Tooth disease, type 4B1, MTO % 97% Combined oxidative phosphorylation deficiency 10, MTPAP % 91% Ataxia, spastic, 4, MTR % 98% Homocystinuria-megaloblastic anemia, cblg complementation type, {Neural tube defects, folate-sensitive, susceptibility to}, MTRR % 99% Homocystinuria-megaloblastic anemia, cbl E type, MTTP % 99% Abetalipoproteinemia, ; {Metabolic syndrome, protection against}, MUC % 89% Medullary cystic kidney disease 1, MUSK % 97% 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 % 98% Mevalonic aciduria, Hyper-IgD syndrome, Porokeratosis 3, disseminated superficial actinic,

84 MXI % 84% Neurofibrosarcoma {Prostate cancer,susceptibility to}, MYBPC % 97% Arthrogryposis,distal,type 1B, Lethal congenital contracture syndrome 4, MYBPC % 95% Cardiomyopathy, familial hypertrophic, 4, Cardiomyopathy, dilated, 1MM, Left ventricular noncompaction 10, MYC % 100% Burkitt lymphoma, MYCN % 92% Feingold syndrome, MYD % 97% Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, MYF % 100% Myopathy, centronuclear, 3, MYH % 97% Aortic aneurysm, familial thoracic 4, MYH % 82% 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 % 89% Cardiomyopathy, familial hypertrophic, 1, Cardiomyopathy, dilated, 1S, Myopathy, myosin storage, Laing distal myopathy, Scapuloperoneal syndrome, myopathic type, Left ventricular noncompaction 5, MYH % 90% Carney complex variant, Trismus-pseudocamptodactyly syndrome,158300

85 MYH % 98% Deafness,autosomal dominant 17, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome, MYL % 100% Cardiomyopathy, familial hypertrophic, 10, MYL % 98% Cardiomyopathy, familial hypertrophic, 8, MYLK % 97% Aortic aneurysm, familial thoracic 7, MYLK % 95% Cardiomyopathy, hypertrophic, midventricular, digenic, MYO15A % 93% Deafness, autosomal recessive 3, MYO1A % 96%?deafness,autosomal dominant 48, MYO1E % 98% Glomerulosclerosis, focal segmental, 6, MYO3A % 99% Deafness, autosomal recessive 30, MYO5A % 98% Griscelli syndrome, type 1, MYO5B % 92% Microvillus inclusion disease, MYO % 98% Deafness,autosomal dominant 22, Deafness,autosomal dominant 22,with hypertrophic cardiomyopathy, Deafness,autosomal recessive 37, 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 % 98% Cardiomyopathy, dilated, 1KK, Cardiomypathy, familial hypertrophic, 22, Cardiomyopaty, familial restrictive 4, NAA % 97% N-terminal acetyltransferase deficiency, NAGA % 95% Schindler disease, type I, Kanzaki disease,

86 Schindler disease, type III, NAGLU % 86% Mucopolysaccharidosis type IIIB (Sanfilippo B), NAGS % 74% N-acetylglutamate synthase deficiency, NALCN % 96%?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, NANOS % 70% Spermatogenic failure 12, NBAS % 100% Short stature,optic nerve atrophy and Pelger-Huet anomaly, Infantile liver failure syndrome 2, NBEAL % 98% Gray platelet syndrome, NBN % 96% Aplastic anemia, Leukemia,acute lymphoblastic, Nijmegen breakage syndrome, NCF % 0% Chronic granulomatous disease due to deficiency of NCF-1, NCF % 100% Chronic granulomatous disease due to deficiency of NCF-2, NCF % 97% Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, NCOA % 63%?Thyroid cancer,nonmedullary,1}, NCSTN % 92% Acne inversa, familial, 1, NDE % 100% Lissencephaly 4 (with microcephaly), NDN % 100% Prader-Willi syndrome, NDP % 92% Norrie disease, Exudative vitreoretinopathy, X-linked, NDRG % 91% Charcot-Marie-Tooth disease, type 4D, NDUFA % 100% Mitochondrial complex I deficiency, NDUFA % 97% previous assignment to chr. 12 Leigh syndrome, NDUFA % 79% 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 % 94% Leigh syndrome due to mitochondrial complex I deficiency,

87 NDUFAF % 100% Mitochondrial complex I deficiency, NDUFAF % 94% Mitochondrial complex I deficiency, Leigh syndrome, NDUFAF % 100% Mitochondrial complex I deficiency, NDUFAF % 100% Mitochondrial complex I deficiency, NDUFAF % 100% Mitochondrial complex I deficiency, NDUFAF % 92% Leigh syndrome due to mitochondrial complex I deficiency, NDUFB % 0% Mitochondrial complex I deficiency, NDUFS % 100% Mitochondrial complex I deficiency, NDUFS % 98% Mitochondrial complex I deficiency, NDUFS % 91% Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial complex I deficiency, NDUFS % 100% Leigh syndrome, Mitochondrial complex I deficiency, NDUFS % 82% Mitochondrial complex I deficiency, NDUFS % 100% Leigh syndrome, NDUFS % 95% Leigh syndrome due to mitochondrial complex I deficiency, NDUFV % 92% Mitochondrial complex I deficiency, NDUFV % 98% Mitochondrial complex I deficiency, NEB % 80% Nemaline myopathy 2, autosomal recessive, NEFL % 100% Charcot-Marie-Tooth disease, type 1F, Charcot-Marie-Tooth disease, type 2E, NEK % 98% Short rib-polydactyly syndrome, type IIA, NEU % 40% Sialidosis, type I, Sialidosis, type II, NEUROD % 100% Maturity-onset diabetes of the young 6, {Diabetes mellitus, noninsulin-dependent}, NEUROG % 100% Diarrhea 4,malabsorptive,congenital, NEXN % 98% Cardiomyopathy, dilated, 1CC, Cardiomyopathy, familial hypertrophic, 20,

88 NF % 81% Neurofibromatosis, type 1, Leukemia, juvenile myelomonocytic, Melanoma, desmoplastic neurotrophic Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Watson syndrome, NF % 98% Neurofibromatosis, type 2, Meningioma, NF2-related, somatic, Schwannomatosis, NFIX % 94% Marshall-Smith syndrome, Sotos syndrome 2, NFKB % 99% 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 % 97% Epilepsy, progressive myoclonic 2B (Lafora), NHP % 97% Dyskeratosis congenita, autosomal recessive 2, NHS % 92% Nance-Horan syndrome, Cataract 40, X-linked, NIN % 99% Seckel syndrome 7, NIPA % 82% Spastic paraplegia 6, autosomal dominant, NIPAL % 95% Ichthyosis,congenital,autosomal recessive 6, NIPBL % 98% Cornelia de Lange syndrome 1, NKX % 98% Goiter, familial, due to TTF-1 defect (1) Chorea, hereditary benign, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, NKX % 99% Atrial septal defect 7, with or without AV conduction defects, NKX % 95% Persistent truncus arteriosus, NKX % 91% Spondylo-megaepiphyseal-metaphyseal dysplasia,613330

89 NLGN4X % 68% Mental retardation, X-linked, {Asperger syndrome susceptibility, X-linked 2}, NLRP % 98% Familial cold autoinflammatory syndrome 2, NLRP % 99% Cold-induced autoinflammatory syndrome, familial, Muckle-Wells syndrome, CINCA syndrome, NLRP % 99% Hydatidiform mole,recurrent, 1, NME % 100% Neuroblastoma, NME % 100% Ciliary dyskinesia, primary, 6, NMNAT % 100% Leber congenital amaurosis 9, NNT % 100% Glucocorticoid deficiency 4, NOBOX % 92% Premature ovarian failure 5, NOD % 98% {Inflammatory bowel disease 1}, NODAL % 91% 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 % 98% Spinocerebellar ataxia 36, NOTCH % 90% Aortic valve disease, Adams-Oliver syndrome 5, NOTCH % 89% Alagille syndrome 2, Hajdu-Cheney syndrome, NOTCH % 84%?Myofibromatosis,infantile 2, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, NPC % 97% Niemann-Pick disease, type C1, Niemann-Pick disease, type D, NPC % 100% Niemann-pick disease, type C2, NPHP % 100% Joubert syndrome 4, Nephronophthisis 1, juvenile, Senior-Loken syndrome-1,266900

90 NPHP % 100% Meckel syndrome 7, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP % 95% Nephronophthisis 4, NPHS % 97% Nephrotic syndrome, type 1, NPHS % 100% Nephrotic syndrome, type 2, NPM % 84% Lateral meningocele syndrome, NPPA % 100% Atrial fibrillation, familial, 6, NPR % 100% Acromesomelic dysplasia,maroteaux type, Epiphyseal chondrodysplasia,miura type, Short stature with nonspecific skeletal abnormalities, NR0B % 100% Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, XY sex reversal 2,dosage-sensitive, NR0B % 99% Obesity,mild,early-onset, NR2F % 99% Bosch-Boonstra-Schaaf optic atrophy syndrome, NR3C % 96% Glucocorticoid resistance, NR3C % 96% Pseudohypoaldosteronism type I, autosomal dominant, NR4A % 91% Chondrosarcoma,extraskeletal myxoid, NR5A % 95% 46XY sex reversal 3, Aderenocortical insufficiency Premature ovarian failure 7, Spermatogenic failure 8, NRAS % 100% Autoimmune lymphoproliferative syndrome type IV, Noonan syndrome 6, Epidermal nevus, somatic, Thyroid carcinoma, follicular, somatic, Colorectal cancer, somatic, NRL % 99% Retinitis pigmentosa 27, Retinal degeneration, autosomal recessive, clumped pigment type NRXN % 97% Pitt-Hopkins-like syndrome 2, {Schizophrenia, susceptibility to, 17},

91 NSD % 99% Sotos syndrome 1, Leukemia, acute myeloid, Beckwith-Wiedemann syndrome, NSDHL % 98% CHILD syndrome, CK syndrome, NSMF % 96% Hypogonadotropic hypogonadism 9 with or without anosmia, NSUN % 92% Mental retardation, autosomal recessive 5, NT5C % 98% Spastic paraplegia 45,autosomal recessive, NT5C3A % 88% Anemia, hemolytic, due to UMPH1 deficiency, NT5E % 100% Calcification of joints and arteries, NTF % 81% Glaucoma 1,open angle, 1O, NTRK % 86% Insensitivity to pain, congenital, with anhidrosis, Medullary thyroid carcinoma, familial, NTRK % 97%?Obesity,hyperphagia,and developmental delay, NUBPL % 98% Mitochondrial complex I deficiency, NUMA % 97% Leukemia,acute promyelocytic,somatic, NUP % 98% Leukemia,acute myeloid,somatic, Leukemia,T-cell acute lymphoblastic,somatic, NUP % 100% Striatonigral degeneration, infantile, NYX % 95% Night blindness, congenital stationary (complete), 1A, X-linked, OAT % 65% Gyrate atrophy of choroid and retina with or without ornithinemia, OBSL % 90% 3-M syndrome 2, OCA % 99% Albinism brown oculocutaneous, [Skin/hair/eye pigmentation 1], OCLN % 70% Band-like calcification with simplified gyration and polymicrogyria, OCRL % 98% Dent disease 2, Lowe syndrome, OFD % 91%?Retinitis pigmentosa 23, Joubert syndrome 10, Oral-facial-digital syndrome 1, Simpson-Golabi-Behmel syndrome type 2,300209

92 OGG % 98% Renal cell carcinoma, clear cell, somatic, OPA % 99% Optic atrophy 1, OPA % 99% 3-methylglutaconic aciduria, type III, Optic atrophy 3 with cataract, OPHN % 99% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, OPLAH % 96% 5-oxoprolinase deficiency, OPN1LW 1.6 4% 0% Colorblindness, protan, Blue cone monochromacy, OPN1MW 1.9 4% 0% 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 % 84% Immunodeficiency 9, Myopathy,tubular aggregate, 2, ORC % 95% Meier-Gorlin syndrome 1, ORC % 100% Meier-Gorlin syndrome 2, ORC % 95% Meier-Gorlin syndrome 3, OSMR % 100% Amyloidosis primary localized cutaneous 1, OSTM % 100% Osteopetrosis,autosomal recessive 5, OTC % 99% CGD Ornithine transcarbamylase deficiency, OTOA % 68% Deafness, autosomal recessive 22, OTOF % 98% Deafness, autosomal recessive 9, OTOG % 95% Deafness, autosomal recessive 18B, OTOGL % 99% Deafness, autosomal recessive 84B, OTX % 100% Microphthalmia, syndromic 5 OXCT % 99% Succinyl CoA:3-oxoacid CoA transferase deficiency, P2RX % 97% Bleeding disorder due to P2RX1 defect,somatic, P2RX % 96% Deafness, autosomal dominant 41, P2RY % 100% Bleeding disorder, platelet-type 8, PABPN % 57% Oculopharyngeal muscular dystrophy, PACS % 96% Mental retardation, autosomal dominant 17,

93 PAFAH1B % 79% Lissencephaly, Subcortical laminar heterotopia, PAH % 95% Phenylketonuria, [Hyperphenylalaninemia, non-pku mild], PAK % 100% Mental retardation, X-linked 30/47, PALB % 99% Fanconi anemia, complementation group N, {Breast cancer, susceptibility to}, {Pancreatic cancer, susceptibility to, 3}, PANK % 83% Neurodegeneration with brain iron accumulation 1, HARP syndrome, PAPSS % 97% Bracyolmia 4 with mild epiphyseal and metaphyseal changes, PARK % 95% Lung cancer PARK % 100% Parkinson disease 7,autosomal recessive early-onset, PAX % 94% Glomerulosclerosis, focal segmental, 7, Papillorenal syndrome, Renal hypoplasia, isolated, PAX % 99% Craniofacial-deafness-hand syndrome, Rhabdomyosarcoma 2,alveolar, Waardenburg syndrome,type 1, Waardenburg syndrome,type 3, PAX % 96% Diabetes mellitus,type 2, Maturity-onset diabetes of the young,type IX, {Diabetes mellitus,ketosis-prone,susceptibility to}, PAX % 100% Aniridia, Peters anomaly, Cataract with late-onset corneal dystrophy, Keratitis, Foveal hyperplasia, Morning glory disc anomaly, Optic nerve hypoplasia, Coloboma, ocular, PAX % 98% Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia,

94 PAX % 99% Tooth agenesis selective 3, PC % 92% Pyruvate carboxylase deficiency, PCBD % 96% Hyperphenylalaninemia, BH4-deficient, D, PCCA % 95% Propionicacidemia, PCCB % 96% Propionicacidemia, PCDH % 99% Usher syndrome, type 1F, Deafness, autosomal recessive 23, Usher syndrome, type 1D/F digenic, PCDH % 99% Epileptic encephalopathy, early infantile, 9, PCM % 100% No OMIM phenotype PCNT % 93% Microcephalic osteodysplastic primordial dwarfism, type II, PCSK % 95% Obesity with impaired prohormone processing,60955 {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 % 93% Cerebral cavernous malformations 3, PDE11A % 99% Pigmented nodular adrenocortical disease,primary,2, PDE4D % 94% Acrocydostosis 2 with or without hormone resistance, {Stroke, susceptibility to, 1}, PDE6A % 97% Retinitis pigmentosa 43, PDE6B % 99% Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, PDE6C % 100% Cone dystrophy 4, PDE6G % 98% Retinitis pigmentosa 57, PDE6H % 72% Retinal cone dystrophy 3, Achromatopsia 6, PDE8B % 100% Pigmented nodular adrenocortical disease, primary, 3, Striatal degeneration, autosomal dominant,

95 PDGFB % 100% Dermatofibrosarcoma protuberans, Basal ganglia calcification,idiopathic,5, Meningioma, SIS-related, PDGFRA % 99% Gastrointestinal stromal tumor,somatic, Hypereosinophilic syndrome,idiopathic,resistant to imatinib, PDGFRB % 97% Basal ganglia calcification idiopathic 4, Myeloproliferative disorder with eosinophilia, Myofibromatosis, infantile, 1, PDGFRL % 97% Colorectal cancer,somatic, Hepatocellular cancer,somatic, PDHA % 98% Pyruvate dehydrogenase E1-alpha deficiency, Leigh syndrome, X-linked, PDHB % 97% Pyruvate dehydrogenase E1-beta deficiency, PDP % 99% Pyruvate dehydrogenase phosphatase deficiency, PDSS % 87% Coenzyme Q10 deficiency, primary, 2, PDSS % 100% Coenzyme Q10 deficiency, primary, 3, PDX % 79% MODY,type IV, Pancreatic agenesis 1, {Diabetes mellitus,type II,susceptibility to}, PDYN % 100% Spinocerebellar ataxia 23, PDZD % 86% {Retinal disease in Usher syndrome type IIA, modifier of}, Usher syndrome, type IIC, GPR98/PDZD7 digenic, PEPD % 92% Prolidase deficiency, PER % 98% 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 % 87% 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,

96 PEX % 93% Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B, PEX % 100% Peroxisome biogenesis disorder 13A (Zellweger), PEX % 86% Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder 8B, PEX % 100% Peroxisome biogenesis disorder 12A (Zellweger), PEX % 100% Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, PEX % 100% Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX % 100% Peroxisome biogenesis disorder 10A (Zellweger), PEX % 95% Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, PEX % 88% Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, PEX % 81% Rhizomelic chondrodysplasia punctata, type 1, 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 % 91% Hyperphosphatasia with mental retardation syndrome 4, PGK % 79% Phosphoglycerate kinase 1 deficiency, PGM % 98% Glycogen storage disease XIV, Congenital disorder of glycosylation, type It, PHEX % 98% Hypophosphatemic rickets, X-linked dominant, PHF % 100% Borjeson-Forssman-Lehmann syndrome, PHF % 100% Mental retardation syndrome, X-linked, Siderius type, PHGDH % 99% Phosphoglycerate dehydrogenase deficiency, PHKA % 96%? Muscle glycogenosis, PHKA % 98% Glycogen storage disease, type IXa1, Glycogen storage disease, type IXa2,

97 PHKB % 97% Phosphorylase kinase deficiency of liver and muscle,autosomal recessive, PHKG % 100% Cirrhosis due to liver phosphorylase kinase deficiency Glycogen storage disease Ixc, PHOX2A 24 79% 55% Fibrosis of extraocular muscles,congenital,2, PHOX2B % 77% Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, {Neuroblastoma, susceptibility to, 2}, Neuroblastoma with Hirschsprung disease, PHYH % 100% Refsum disease, PICALM % 95% Leukemia,acute myeloid,somatic, PIEZO % 94% 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 % 99% Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria,somatic, PIGL % 100% CHIME syndrome, PIGM % 100% Glycosylphosphatidylinositol deficiency, PIGN % 100% Multiple congenital anomalies-hypotonia-seizures syndrome 1, PIGO % 100% Hyperphosphatasia with mental retardation syndrome 2, PIGV % 100% Hyperphosphatasia with mental retardation syndrome 1, PIK3CA % 92% Ovarian cancer, somatic, Breast cancer, somatic, Colorectal cancer, somatic, Gastric cancer, somatic, Hepatocellular carcinoma, somatic, (3); Nonsmall cell lung cancer, somatic, (3); Keratosis, PIK3CD % 91% Immunodeficiency 14, PIK3R % 100% Agammaglobulinemia 7, autosomal recessive, PIK3R % 84% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome,

98 PIK3R % 100% Ataxia-oculomotor apraxia 3, PIKFYVE % 100% Corneal fleck dystrophy, PINK % 85% Parkinson disease 6, early onset, PIP5K1C % 79% Lethal congenital contractural syndrome 3, PITPNM % 94% Cone-rod dystrophy 5, PITX % 82% Clubfoot,congenital,with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndrome, PITX % 93% Axenfeld-Rieger syndrome type 1, Iridogoniodysgenesis,type 2, Peters anomaly, Ring dermoid of cornea, PITX % 98% Anterior segment mesenchymal dysgenesis, PKD % 17% Polycystic kidney disease, adult type I, PKD % 84% Polycystic kidney disease 2, PKHD % 97% Polycystic kidney and hepatic disease, PKLR % 97% Pyruvate kinase deficiency, Adenosine triphosphate, elevated, of erythrocytes, PKP % 90% Ectodermal dysplasia/skin fragility syndrome, PKP % 84% Arrhythmogenic right ventricular dysplasia 9, PLA2G4A % 100% Phospholipase A2,group IV A,deficiency of PLA2G % 100% Fleck retina, familial benign, PLA2G % 92% 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 % 100% Adenomas,salivary gland pleomorphic,somatic, PLAU % 92% Quebec platelet disorder, {Alzheimer disease,late-onset,susceptibility to}, PLCB % 97% Epileptic encephalopathy, early infantile, 12, PLCB % 99% Auriculocondylar syndrome 2, PLCD % 93% Nail disorder, nonsyndromic congenital, 3, (leukonychia),

99 PLCE % 97% Nephrotic syndrome, type 3, PLCG % 99% Familial cold autoinflammatory syndrome 3, Autoinflammation, antibody deficiency, and immune dysregulation syndrome, PLEC % 96% Muscular dystrophy with epidermolysis bullosa simplex, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex with pyloric atresia, Muscular dystrophy, limb-girdle, type 2Q, PLEKHG % 94% Charcot-Marie-Tooth disease,recessive intermediate C, Spinal muscular atrophy, distal, autosomal recessive, 4, PLEKHM % 22% Osteopetrosis,autosomal recessive 6, PLG % 72% Dysplasminogenemia, Plasminogen deficiency, type I, PLIN % 75% Lipodystrophy, familial partial, type 4, PLN % 100% Cardiomyopathy, dilated, 1P, Cardiomyopathy, familial hypertrophic, 18, PLOD % 97% Ehlers-Danlos syndrome, type VI, PLOD % 100% Bruck syndrome 2, PLOD % 85% Lysyl hydroxylase 3 deficiency, PLP % 98% 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, PMP % 97% Charcot-Marie-Tooth disease, type 1A, Charcot-Marie-Tooth disease,type 1E, Dejerine-Sottas disease, Neuropathy,inflammatory demyelinating, Neuropathy,recurrent,with pressure palsies, Roussy-Levy syndrome, PMS % 56% Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis, type 4, PNKP % 99% Epileptic encephalopathy, early infantile, 10,

100 PNP % 100% Immunodeficiency due to purine nucleoside phosphorylase deficiency, PNPLA % 99% Ichthyosis congenital autosomal recessive 10, PNPLA % 96% Neutral lipid storage disease with myopathy, PNPLA % 97% Spastic paraplegia 39, autosomal recessive, PNPO % 95% Pyridoxamine 5-phosphate oxidase deficiency, PNPT % 100% Combined oxidative phosphorylation deficiency 13, POC1A % 95% Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, POF1B % 100% Premature ovarian failure 2B, POFUT % 96% Dowling-Degos disease 2, POGLUT % 97% Dowling-Degos disease 4, POLD % 92% {Colorectal cancer, susceptibility to, 10}, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, POLE % 99% {Colorectal cancer, susceptibility to, 12}, FILS syndrome, POLG % 96% Mitochondrial DNA depletion syndrome 4A (Alpers type), Mitochondrial DNA depletion syndrome 4B (MNGIE type), Mitochondrial recessive ataxia syndrome, Progressive external ophthalmoplegia, autosomal dominant, Progressive ext POLG % 99% Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, POLH % 96% Xeroderma pigmentosum variant type, POLR1C % 87% Treacher Collins syndrome 3, Leukodystrophy, hypomyelinating,11, POLR1D % 100% Treacher Collins syndrome 2, POLR3A % 94% Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, POLR3B % 99% Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,

101 POMC % 66% 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), type C 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 % 100% 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), type C, POMT % 87% 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), type C, POR % 100% Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, PORCN % 92% Focal dermal hypoplasia, POU1F % 100% Pituitary hormone deficiency, combined, 1, POU3F % 100% Deafness, X-linked 2, POU4F % 100% Deafness, autosomal dominant 15, PPARG % 97% Carotid intimal medial thickness 1, Insulin resistance,severe,digenic, Lipodystrophy,familial partial,type 3, Obesity,severe, [Obesity,resistance to] {Diabetes,type 2},125853

102 PPIB % 100% Osteogenesis imperfecta, type IX, PPM1D % 97% Breast cancer, PPM1K % 95% Maple syrup urine disease, mild variant, PPOX % 97% Porphyria variegata, PPP1R3A % 100% Insulin resistance,severe,digenic, PPP2R1B % 100% Lung cancer, PPP2R2B % 97% Spinocerebellar ataxia 12, PPT % 89% Ceroid lipofuscinosis, neuronal, 1, PQBP % 99% Renpenning syndrome, PRCC % 100% Renal cell carcinoma,papillary, PRCD % 100% Retinitis pigmentosa 36, PRDM % 96% Left ventricular noncompaction 8, Cardiomyopathy, dilated, 1LL, PRDM % 100% Brittle cornea syndrome 2, PRF % 98% Hemophagocytic lymphohistiocytosis, familial, 2, Lymphoma, non-hodgkin, PRG % 86% Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, PRICKLE % 99% Epilepsy, progressive myoclonic 1B, PRICKLE % 94% Epilepsy, progressive myoclonic 5, PRIMPOL % 98% Myopia 22,autosomal dominant, PRKAG % 99% Wolff-Parkinson-White syndrome, Cardiomyopathy, familial hypertrophic 6, Glycogen storage disease of heart, lethal congenital, PRKAR1A % 91% Carney complex, type 1, Myxoma, intracardiac, Thyroid carcinoma, papillary, somatic, Pigmented nodular adrenocortical disease, primary, 1, Adrenocortical tumor, somatic, Acrodysostosis 1, with or without hormone resistance PRKCA % 98% Pituitary tumor,invasive PRKCG % 96% Spinocerebellar ataxia 14, PRKCSH % 97% Polycystic liver disease, PRKG % 94% Aortic aneurysm, familial thoracic 8,

103 PRKRA % 100% Dystonia 16, PRLR % 100%?Hyperprolactinemia, Multiple fibroadenomas of the breast, PRNP % 100% Cerebral amyloid angiopathy,prnp related, Creutzfeldt-Jakob disease, Gerstmann-Straussler disease, Huntington disease-like 1, Insomnia,fatal familial, Prion disease with protracted course, PROC % 96% Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency, autosomal recessive, PRODH 58 78% 65% Hyperprolinemia, type I, {Schizophrenia, susceptibility to, 4}, PROK % 79% Hypogonadotropic hypogonadism 4 with or without anosmia, PROKR % 100% Hypogonadotropic hypogonadism 3 with or without anosmia, PROM % 94% Retinitis pigmentosa 41, Cone-rod dystrophy 12, Stargardt disease 4, Macular dystrophy, retinal, 2, PROP % 98% Pituitary hormone deficiency, combined, 2, PROS % 72% Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, PRPF % 99% Retinitis pigmentosa 18, PRPF % 86% Retinitis pigmentosa 11, PRPF % 99% Retinitis pigmentosa 60, PRPF % 97% Retinitis pigmentosa 13,

104 PRPH % 100% Retinitis pigmentosa 7, Retinitis punctata albescens, Macular dystrophy, patterned, Macular dystrophy, vitelliform, Foveomacular dystrophy, adult-onset, with choroidal neovascularization, Macular dystrophy PRPS % 100% Gout, PRPS-related, Phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease, X-linked recessive, 5, Arts syndrome, Deafness, X-linked 1, PRRT % 100% Convulsions,familial infantile,with paroxysmal choreoathetosis, Episodic kinesigenic dyskinesia 1, Seizures,benign familial infantile, 2, PRRX % 99% Agnathia-otocephaly complex, PRSS % 79% Pancreatitis,hereditary, Trypsinogen deficiency, PRSS % 95% Mental retardation, autosomal recessive 1, PRSS % 86% Microphthalmia, isolated 6, PRX % 97% Charcot-Marie-Tooth disease,type 4F, Dejerine-Sottas disease, autosomal recessive, PSAP % 99% Metachromatic leukodystrophy due to SAP-b deficiency, Gaucher disease, atypical, Combined SAP deficiency, Krabbe disease, atypical, PSAT % 61% Phosphoserine aminotransferase deficiency, PSEN % 96% Acne inversa, familial, 3, Alzheimer disease, type 3, Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Cardiomyopathy, dilated, 1U, 61 PSEN % 100% Alzheimer disease-4, Cardiomyopathy,dilated,1V,613697

105 PSENEN % 99% Acne inversa, familial, 2, PSMB % 10% Autoinflammation, lipodystrophy, and dermatosis syndrome, PSMC3IP % 94% Ovarian dysgenesis 3, PSPH % 51% Phosphoserine phosphatase deficiency, PSTPIP % 91% Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, PTCH % 94% Basal cell nevus syndrome, Basal cell carcinoma, somatic, Holoprosencephaly-7, PTCH % 96% Basal cell carcinoma somatic, Basal cell nevus syndrome, Medulloblastoma, PTDSS % 100% Lenz-Majewski hyperostotic dwarfism, PTEN % 94% Cowden syndrome 1, Lhermitte-Duclos syndrome, Bannayan-Riley-Ruvalcaba syndrome, {Meningioma}, {Glioma susceptibility 2}, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome VATER association with m PTF1A % 55% Pancreatic agenesis 2, Pancreatic and cerebellar agenesis, PTGIS % 93% Hypertension, essential, PTH % 100% Hypoparathyroidism, PTH1R 89 99% 93% Chondrodysplasia, Blomstrand type, Eiken syndrome, Failure of tooth eruption, primary, Metaphyseal chondrodysplasia, Murk-Jansen type, PTHLH % 100% Brachydactyly type E2, Humoral hypercalcemia of malignancy PTPN % 72% Noonan syndrome 1, LEOPARD syndrome 1, Leukemia, juvenile myelomonocytic,

106 Metachondromatosis, PTPN % 99% Colon cancer,somatic, PTPN % 98% Choanal atresia and lymphedema, PTPRC % 95% {Hepatitic C virus, susceptibility to}, Severe combined immunodeficiency,t cell-negative,b-cell/natural killer-cell positive, PTPRJ % 97% Colon cancer, somatic, PTPRO % 96% Nephrotic syndrome, type 6, PTPRQ % 94% Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, PTRF % 100% Lipodystrophy, congenital generalized, type 4, PTS % 100% Hyperphenylalaninemia, BH4-deficient, A, PUF % 95% Verheij syndrome, PUS % 96% Mitochondrial myopathy and sideroblastic anemia 1, PVRL % 98% Cleft lip/palate-ectodermal dysplasia syndrome, Orofacial cleft 7, PVRL % 99% Ectodermal dysplasia-syndactyly syndrome 1, PYCR % 99% Cutis laxa, autosomal recessive, type IIB, Cutis laxa, autosomal recessive, type IIIB, PYGL % 99% Glycogen storage disease VI, PYGM % 99% McArdle disease, QARS % 100% Microcephaly, progressive,seizures, and cerebral and cerebellar atrophy, QDPR % 96% Hyperphenylalaninemia, BH4-deficient, C, RAB % 100% Warburg micro syndrome 3, RAB % 100% Carpenter syndrome, RAB27A % 100% Griscelli syndrome, type 2, RAB % 90% Cone-rod dystrophy 18, RAB33B % 100% Smith-McCort dysplasia 2, RAB39B % 100% Mental retardation, X-linked 72, RAB3GAP % 96% Warburg micro syndrome 1, RAB3GAP % 97% Martsolf syndrome, Warburg micro syndrome 2,

107 RAB40AL % 85% Mental retardation, X-linked, syndromic, Martin-Probst type, RAB7A % 100% Charcot-Marie-Tooth disease,type 2B, RAC % 89% Neutrophil immunodeficiency syndrome, RAD % 96% Cornelia de Lange syndrome 4, RAD % 100% Nijmegen breakage syndrome-like disorder, RAD % 89% Mirror movements 2, {Breast cancer,susceptibility to}, RAD51C % 100% Fanconi anemia, complementation group O, {Breast-ovarian cancer, familial, susceptibility to, 3}, RAD54B % 99% Colon cancer,somatic, Lymphoma,non-Hodgkin,somatic, RAD54L % 95% Adenocarcinoma,colonic,somatic Lymphoma,non-Hodgkin,somatic, {Breast cancer,invasive ductal}, RAF % 100% Noonan syndrome 5, LEOPARD syndrome 2, RAG % 100% Severe combined immunodeficiency, B cell-negative, RAG % 100% Severe combined immunodeficiency, B cell-negative, RAI % 98% Immunodeficiency 9, Smith-Magenis syndrome, RAP1GDS % 95% Lymphocytic leukemia,acute T-cell RAPSN % 88% Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, Fetal akinesia deformation sequence, RARB % 100% Microphthalmia, syndromic 12, RARS % 97% Pontocerebellar hypoplasia, type 6, RASA % 99% Basal cell carcinoma,somatic, Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, RAX 93 86% 80% Microphthalmia,isolated 3, RAX % 97% Cone-rod dystrophy 11, Macular degeneration, age-related, 6,613757

108 RB % 98% Retinoblastoma, Osteosarcoma, somatic, Bladder cancer, somatic, Small cell cancer of the lung, somatic, Retinoblastoma, trilateral, RB1CC % 100% Breast cancer,somatic, RBBP % 100% Jawad syndrome, Pancreatic carcinoma,somatic Seckel syndrome 2, RBM % 97% TARP syndrome, RBM % 96% Cardiomyopathy, dilated, 1DD, RBM % 99% Alopecia, neurologic defects, and endocrinopathy syndrome, RBM8A % 100% Thrombocytopenia-absent radius syndrome, RBP % 85% Retinol dystrophy iris coloboma and comedogenic acne syndrome, Microphthalmia,isolated,with coloboma 10, RBPJ 78 98% 95% Adams-Oliver syndrome 3, RD % 92% Leber congenital amaurosis 12, RDH % 87% Leber congenital amaurosis 13, RDH % 98% Fundus albipunctatus, RDX % 73% Deafness, autosomal recessive 24, RECQL % 95% Rothmund-Thomson syndrome, RAPADILINO syndrome, Baller-Gerold syndrome, REEP % 95% Spastic paraplegia 31, autosomal dominant, Neuronopathy, distal hereditary motor, type VB, RELN % 98% Lissencephaly 2 (Norman-Roberts type), REN % 100% Hyperuricemic nephropathy,familial juvenile 2, Renal tubular dysgenesis, [Hyperproreninemia]

109 RET % 95% Multiple endocrine neoplasia IIA, Medullary thyroid carcinoma, Multiple endocrine neoplasia IIB, Central hypoventilation syndrome, congenital, Pheochromocytoma, Renal agenesis, {Hirschsprung disease, suscept RFT % 97% Congenital disorder of glycosylation, type In, RFX % 99% Bare lymphocyte syndrome, type II, complementation group C, Bare lymphocyte syndrome, type II, complementation group E, RFX % 100% Mitchell-Riley syndrome, RFXANK % 95% MHC class II deficiency, complementation group B, RFXAP % 85% Bare lymphocyte syndrome, type II, complementation group D, RGR % 87% Retinitis pigmentosa 44, RGS % 95% Bradyopsia, RGS9BP % 88% Bradyopsia, RHAG % 100% Anemia,hemolytic,Rh-null,regulator type, Overhydrated hereditary stomatocytosis, Rh-mod syndrome RHBDF % 92% Tylosis with esophageal cancer, RHCE % 81% Rh-null disease,amorph type [Blood group,rhesus], RHO % 100% Retinitis pigmentosa 4, autosomal dominant or recessive, Night blindness, congenital stationary, autosomal dominant 1, Retinitis punctata albescens, RIMS % 99% Cone-rod dystrophy 7, RIN % 97% Macrocephaly alopecia cutis laxa and scoliosis, RIPK % 96% Popliteal pterygium syndrome 2, lethal type, RIT % 100% Noonan syndrome 8,

110 RLBP % 99% Fundus albipunctatus, Retinitis punctata albescens, Newfoundland rod-cone dystrophy, Bothnia retinal dystrophy, RMND % 91% Combined oxidative phosphorylation deficiency 11, RNASEH2A % 92% Aicardi-Goutieres syndrome 4, RNASEH2B % 93% Aicardi-Goutieres syndrome 2, RNASEH2C % 100% Aicardi-Goutieres syndrome 3, RNASEL % 99% Prostate cancer 1, RNASET % 100% Leukoencephalopathy, cystic, without megalencephaly, RNF % 68% Macrocephaly,macrosomia,facial dysmorphism syndrome, RNF % 99% Renal cell carcinoma, RNF % 100% RIDDLE syndrome, RNF % 100% taxia, sensory, 1, autosomal dominant, RNF % 98% Recombination rate QTL 1, RNF % 92% Cerebellar ataxia and hypogonadotropic hypogonadism, RNF % 100% Esophageal carcinoma,somatic, ROBO % 100% Vesicoureteral reflux 2, ROBO % 89% Gaze palsy, horizontal, with progressive scoliosis, ROGDI % 95% Kohlschutter-Tonz syndrome, ROM % 100% Retinitis pigmentosa 7, digenic, ROR % 90% Robinow syndrome, autosomal recessive, Brachydactyly,type B1, RP % 100% Retinitis pigmentosa 1, {Hypertriglyceridemia, susceptibility to}, RP1L % 100% Occult macular dystrophy, RP % 100% Retinitis pigmentosa 2, RPE % 98% Leber congenital amaurosis 2, Retinitis pigmentosa 20,

111 RPGR % 86% 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% COACH syndrome, Joubert syndrome 7, Meckel syndrome 5, RPIA % 91% Ribose 5-phosphate isomerase deficiency, RPL % 93% Diamond-Blackfan anemia 7, RPL35A % 73% Diamond-Blackfan anemia 5, RPL % 61% Diamond-Blackfan anemia 6, RPS % 81% Diamond-Blackfan anemia 9, RPS % 62% Macrocytic anemia,refractory,due to 5q deletion,somatic, RPS % 0% Diamond-Blackfan anemia 4, RPS % 47% Diamond-Blackfan anemia 1, RPS % 94% Diamond-blackfan anemia 3, RPS % 62% Diamond-Blackfan anemia 10, RPS6KA % 99% Coffin-Lowry syndrome, Mental retardation, X-linked 19, RPS % 45% Diamond-Blackfan anemia 8, RPSA % 59% Asplenia, isolated congenital, RRAS % 97% Ovarian carcinoma RRM2B % 100% Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), RS % 91% Retinoschisis, RSPH % 100% Ciliary dyskinesia, primary, 24, RSPH4A % 100% Ciliary dyskinesia, primary, 11, RSPH % 98% Ciliary dyskinesia, primary, 12, RSPO % 87% Palmoplantar hyperkeratosis and true hermaphroditism, Palmoplantar hyperkeratosis with squamous cell carcinoma and sex reversal,610644

112 RSPO % 100% Anonychia congenita, RTEL % 90% Dyskeratosis congenita, autosomal recessive 5, Dyskeratosis congenita, autosomal dominant 4, RTN % 93% Spastic paraplegia 12, autosomal dominant, RTTN % 98% Polymicrogyria with seizures, RUNX % 86% Leukemia, acute myeloid, Platelet disorder, familial, with associated myeloid malignancy, RUNX % 74% Cleidocranial dysplasia, Cleidocranial dysplasia, forme fruste,dental anomalies only, Cleidocranial dysplasia, forme fruste,with brachydactyly, Metaphyseal dysplasia with maxillary hypoplasia with/without brachydactyly, RXFP % 100%?Cryptorchidism, RYR % 91% {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 % 99% Oguchi disease-1, Retinitis pigmentosa 47, SALL % 98% Townes-Brocks syndrome, SALL % 97% Duane-radial ray syndrome, SAMD % 100% Tumoral calcinosis familial normophosphatemic, SAMHD % 98% Aicardi-Goutieres syndrome 5, SAR1B % 100% Chylomicron retention disease, SARS % 91% Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, SART % 98% No OMIM disease ID SAT % 100% Keratosis follicularis spinulosa decalvans,

113 SATB % 97% Cleft palate and mental retardation, SBDS % 93% Shwachman-Bodian-Diamond syndrome, SBF % 98% Charcot-Marie-Tooth disease, type 4B2, SC5D % 100% Lathosterolosis, SCARB % 96% Epilepsy, progressive myoclonic 4, with or without renal failure, SCARF % 79% Van den Ende-Gupta syndrome, SCN10A % 98% Episodic pain syndrome,familial 2, SCN11A % 99% Episodic pain syndrome, familial, 3, Neuropathy,hereditary sensory and autonomic,type VIII, 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 % 99% Seizures, benign familial infantile, 3, Epileptic encephalopathy, early infantile, 11, SCN2B % 98% Atrial fibrillation, familial, 14, SCN3B % 98% 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, SCN4B % 100% Long QT syndrome-10,

114 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, SCN9A % 100% Epilepsy,generalized,with febrile seizures plus,type 7, Erythermalgia, primary, Febrile seizures,familial,3b, HSAN2D,autosomal recessive, Insensitivity to pain,congenital, Paroxysmal extreme pain disorder, Small SCNN1A % 91% Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism, type I, SCNN1B % 97% Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome, Pseudohypoaldosteronism,type I, SCNN1G % 100% Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome, Pseudohypoaldosteronism, type I, SCO % 89% Mitochondrial complex IV deficiency, SCO % 100% Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Myopia 6, SCP % 95% Leukoencephalopathy with dystonia and motor neuropathy, SDCCAG % 100% Senior-Loken syndrome 7,

115 SDHA % 16% Leigh syndrome, Mitochondrial respiratory chain complex II deficiency, Cardiomyopathy, dilated, 1GG, Paragangliomas 5, SDHAF % 86% Mitochondrial complex II deficiency, SDHAF % 94% Paragangliomas 2, SDHB % 100% Paragangliomas 4, Pheochromocytoma, Paraganglioma and gastric stromal sarcoma, Cowden syndrome 2, Gastrointestinal stromal tumor, SDHC % 50% Paragangliomas 3, Paraganglioma and gastric stromal sarcoma, Gastrointestinal stromal tumor, SDHD % 33% Paragangliomas 1, with or without deafness, Pheochromocytoma, Carcinoid tumors, intestinal, Merkel cell carcinoma, somatic Paraganglioma and gastric stromal sarcoma, Cowden syndrome 3, SEC23A % 97% Craniolenticulosutural dysplasia, SEC23B % 100% Anemia dyserythropoietic congenital type II, SEC % 93% Polycystic liver disease, SECISBP % 97% Thyroid hormone metabolism,abnormal, SEMA3E % 100% CHARGE syndrome, SEMA4A % 97% Cone-rod dystrophy 10, Retinitis pigmentosa 35, SEPN % 80% Muscular dystrophy, rigid spine, 1, Myopathy, congenital, with fiber-type disproportion, SEPSECS % 100% Pontocerebellar hypoplasia type 2D, SERAC % 100% 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, SERPINA % 100% Emphysema due to AAT deficiency, {Pulmonary disease,chronic obstructive,susceptibility to},606963

116 SERPINA % 98% Alpha-1-antichymotrypsin deficiency Cerebrovascular disease,occlusive SERPINA % 100% Corticosteroid-binding globulin deficiency, SERPINA % 100% Thyroxine-binding globulin deficiency SERPINB % 100% Deafness, autosomal recessive 91, SERPINB % 100% Palmoplantar keratoderma, Nagashima type, , SERPINC % 100% Thrombophilia due to antithrombin III deficiency, SERPIND % 98% Thrombophilia due to heparin cofactor II deficiency, SERPINE % 92% Plasminogen activator inhibitor-1 deficiency, {Transcription of plasminogen activator inhibitor,modulator of} SERPINF % 83% Osteogenesis imperfecta,type VI, SERPINF % 100% Alpha-2-plasmin inhibitor deficiency, SERPING % 90% Angioedema, hereditary, types I and II, SERPINH % 100% Osteogenesis imperfecta type X, {Preterm premature rupture of the membranes, susceptibility to}, SERPINI % 93% Encephalopathy,familial,with neuroserpin inclusion bodies, SETBP % 96% Schinzel-Giedion midface retraction syndrome, SETD % 98% Mental retardation,autosomal dominant 24, 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% Pulmonary fibrosis, idiopathic, SFTPB % 88% Surfactant metabolism dysfunction,pulmonary 1, SFTPC % 98% Surfactant metabolism dysfunction, pulmonary 2, SFXN % 98% Combined oxidative phosphorylation deficiency 18, SGCA % 89% 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 % 92% maternally imprinted Dystonia-11, myoclonic, SGCG % 100% Muscular dystrophy, limb-girdle, type 2C,

117 SGSH % 91% Mucopolysaccharidisis type 3A (Sanfilippo A), SH2B % 90% Erythrocytosis,somatic, Myelofibrosis,somatic, Thrombocythemia,somatic, SH2D1A % 95% Lymphoproliferative syndrome, X-linked, SH3BP % 85% Cherubism, SH3PXD2B % 98% Frank-ter Haar syndrome, SH3TC % 97% Charcot-Marie-Tooth disease, type 4C, Mononeuropathy of the median nerve,mild, SHANK % 71% Phelan-McDermid syndrome, {Schizophrenia 15}, SHH % 93% Holoprosencephaly-3, Single median maxillary central incisor, Microphthalmia with coloboma 5, Schizencephaly, SHOC % 97% Noonan-like syndrome with loose anagen hair, SHOX 0.6 0% 0% Langer mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature,idiopathic familial, SHROOM % 100% Stocco dos Santos X-linked mental retardation syndrome, SI % 99% Sucrase-isomaltase deficiency, congenital, SIGMAR % 99% Amyotrophic lateral sclerosis 16, juvenile, SIL % 99% Marinesco-Sjogren syndrome, SIM % 96% Obesity,severe, SIX % 95% Brachiootic syndrome 3, Deafness,autosomal dominant 23, SIX % 100% Holoprosencephaly-2, Schizensephaly, SIX % 73% Branchiootorenal syndrome 2, SIX % 95% Microphthalmia with cataract 2, SKI % 77% Shprintzen-Goldberg syndrome, SKIV2L % 48% Trichohepatoenteric syndrome 2, SLC10A % 100% Bile acid malabsorption,primary, SLC11A % 100% Anemia, hypochromic microcytic,206100

118 SLC12A % 99% Bartter syndrome, type 1, SLC12A % 96% Gitelman syndrome, SLC12A % 100% Agenesis of the corpus callosum with peripheral neuropathy, SLC16A % 100% Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, 7, (3) SLC16A % 100% Cataract, juvenile, with microcornea and glucosuria, SLC16A % 97% Allan-Herndon-Dudley syndrome, SLC17A % 99% Salla disease, Sialic acid storage disorder, infantile, SLC17A % 99% Deafness, autosomal dominant 25, SLC19A % 100% Thiamine-responsive megaloblastic anemia syndrome, SLC19A % 99% Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), SLC1A % 100% Episodic ataxia, type 6, SLC20A % 99% Basal ganglia calcification, idiopathic, 1, SLC22A % 95% Hypouricemia, renal, SLC22A % 97% Breast cancer,somatic, Lung cancer,somatic, Rhabdomyosarcoma,somatic, SLC22A % 100% Carnitine deficiency, systemic primary, SLC24A % 99% Night blindness, congenital stationary (complete), 1D, autosomal recessive, SLC24A % 99% Albinism, oculocutaneous, type VI, [skin/hair/eye pigmentation 4], SLC25A % 81% Combined D-2- and L-2-hydroxyglutaric aciduria, 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 % 99% Carnitine-acylcarnitine translocase deficiency,

119 SLC25A % 98% Epileptic encephalopathy, early infantile, 3, SLC25A % 86% Mitochondrial phosphate carrier deficiency, SLC25A % 98% Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, SLC25A % 95% Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), SLC26A % 100% Achondrogenesis Ib, Atelosteogenesis II, De la Chapelle dysplasia, Diastrophic dysplasia, Diastrophic dysplasia,broad bone-platyspondylic variant, Epiphyseal dysplasia,multiple,4, SLC26A % 98% Diarrhea 1,secretory chloride,congenital, SLC26A % 98% Pendred syndrome, Deafness,autosomal recessive 4,with enlarged vestibular aqueduct, SLC26A % 99% Deafness, autosomal recessive 61, SLC26A % 97% Spermatogenic failure 3, SLC27A % 83% 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% Fanconi-Bickel syndrome, {Diabetes mellitus, noninsulin-dependent}, SLC2A % 93% Hypouricemia,renal,2, {Uric acid concentration, serum, QTL 2}, SLC30A % 100% Hypermanganesemia with dystonia, polycythemia, and cirrhosis, SLC30A % 98% Zinc deficiency,transient neonatal,608118

120 SLC33A % 100% Spastic paraplegia 42, autosomal dominant, Congenital cataracts, hearing loss, and neurodegeneration, SLC34A % 96% Fanconi renotubular syndrome 2, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, SLC34A % 100%?Testicular microlithiasis, Pulmonary alveolar microlithiasis, SLC34A % 89% Hypophosphatemic rickets with hypercalciuria, SLC35A % 100% Congenital disorder of glycosylation, type 2f, SLC35A % 100% Congenital disorder of glycosylation, type 2m, SLC35C % 100% Congenital disorder of glycosylation, type IIc, SLC35D % 100% Schneckenbecken dysplasia, SLC36A % 100% Hyperglycinuria, Iminoglycinuria,digenic, SLC37A % 99% Glycogen storage disease Ib, Glycogen storage disease Ic, SLC38A % 94% Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, SLC39A % 98% Spondylocheirodysplasia Ehlers-Danlos syndrome-like, SLC39A % 98% Acrodermatitis enteropathica, SLC3A % 96% Cystinuria, SLC40A % 100% Hemochromatosis, type 4, SLC45A % 99% Oculocutaneous albinism type IV, [skin/hair/eye pigmentation 5], SLC46A % 96% Folate malabsorption, hereditary, SLC4A % 94% Ovalocytosis Renal tubular acidosis,distal,ad, Renal tubular acidosis,distal,ar, Spherocytosis,type 4, SLC4A % 98% Corneal dystrophy, Fuchs endothelial, 4, Corneal endothelial dystrophy 2, autosomal recessive, Corneal endothelial dystrophy and perceptive deafness,

121 SLC4A % 100% Renal tubular acidosis, proximal, with ocular abnormalities, SLC52A % 100% Riboflavin deficiency, SLC52A % 100% Brown-Vialetto-Van Laere syndrome 2, SLC52A % 100% Brown-Vialetto-Van Laere syndrome 1, Fazio-Londe disease, SLC5A % 100% Glucose/galactose malabsorption, SLC5A % 96% Renal glucosuria, SLC5A % 92% Thyroid dyshormonogenesis 1, SLC5A % 100% Neuronopathy, distal hereditary motor, type VIIA, SLC6A % 95% Hartnup disorder, Hyperglycinuria, Iminoglycinuria,digenic, SLC6A % 98% Orthostatic intolerance, SLC6A % 88% Hyperglycinuria, SLC6A % 99% Parkinsonism -dystonia, infantile, {Nicotine dependence, protection against}, SLC6A % 99% Hyperekplexia 3, SLC6A % 12% Cerebral creatine deficiency syndrome 1, SLC7A % 100% Retinitis pigmentosa 68, SLC7A % 99% Lysinuric protein intolerance, SLC7A % 100% Cystinuria, SLC9A3R % 95% Nephrolithiasis/osteoporosis, hypophosphatemic, 2, SLC9A % 97% Mental retardation, X-linked syndromic, Christianson type, SLCO1B % 99% Hyperbilirubinemia, Rotor type, digenic, SLCO1B % 95% Hyperbilirubinemia, Rotor type, digenic, SLCO2A % 96% Hypertrophic osteoarthropathy primary autosomal recessive 2, SLITRK % 100%?Thrichotillomania, Tourette syndrome, SLITRK % 100% Deafness and myopia, SLURP % 87% Meleda disease, SLX % 95% Fanconi anemia, complementation group P, SMAD % 85% Loeys-Dietz syndrome type 3,613795

122 SMAD % 98% Pancreatic cancer Polyposis, juvenile intestinal, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, SMAD % 67% Aortic valve disease 2, SMAD % 100% Pulmonary hypertension,primary, SMARCA % 92% Nicolaides-Baraitser syndrome, SMARCA % 94% Rhabdoid tumor predisposition syndrome 2, Mental retardation, autosomal dominant 16, SMARCAD % 100% Adermatoglyphia, SMARCAL % 97% Schimke immunoosseous dysplasia, SMARCB % 100% Rhabdoid tumors, somatic, Rhabdoid predisposition syndrome 1, Mental retardation, autosomal dominant 15, SMC1A % 97% Cornelia de Lange syndrome 2, SMC % 97% Cornelia de Lange syndrome 3, SMCHD % 99% Fascioscapulohumeral muscular dystrophy 2,digenic, SMN % 7% Spinal muscular atrophy-1, Spinal muscular atrophy-2, Spinal muscular atrophy-3, Spinal muscular atrophy-4, SMO % 96% Basal cell carcinoma, somatic SMOC % 95% Microphthalmia with limb anomalies, SMOC % 90% Dentin dysplasia type I with microdontia and misshapen teeth, SMPD % 94% Niemann-Pick disease, type A, Niemann-Pick disease, type B, SMPX % 99% Deafness, X-linked 4, SMS % 67% Mental retardation, X-linked, Snyder-Robinson type, SNAI % 100% Piebaldism, Waardenburg syndrome, type 2D, SNAP % 100% Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome,

123 SNCA % 100% Parkinson disease 4, Dementia, Lewy body, Parkinson disease 1, SNCB % 100% Dementia,Lewy body, SNIP % 96% Psychomotor retardation, epilepsy and craniofacial dysmorphism, SNRNP % 99% Retinitis pigmentosa 33, SNRPE % 79% Hypotrichosis 11, SNRPN % 79% Prader-Willi syndrome, SNTA % 77% Long QT syndrome 12, SNX % 100% Osteopetrosis autosomal recessive 8, SOBP % 91% Mental retardation, anterior maxillary protrusion, and strabismus, SOD % 100% Amyotrophic lateral sclerosis 1, SOS % 99% Fibromatosis, gingival, Noonan syndrome 4, SOST % 100% Craniodiaphyseal dysplasia,autosomal dominant, Sclerosteosis 1, Van Buchem disease, SOX % 100% Waardenburg syndrome, type 4C, Waardenburg syndrome, type 2E, with or without neurologic involvement, PCWH syndrome, SOX % 100% Vesicoureteral reflux 3, SOX % 38% Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, SOX % 99% Microphthalmia, syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system, SOX % 90% Mental retardation, X-linked, with isolated growth hormone deficiency, Panhypopituitarism, X-linked, SOX % 97% Campomelic dysplasia with autosomal sex reversal, Acampomelic campomelic dysplasia, Campomelic dysplasia,114290

124 SP % 100% Hepatic venoocclusive disease with immunodeficiency, SP % 100% Osteogenesis imperfecta type XII, SPAG % 97% Ciliary dyskinesia, primary, 28, SPAST % 99% Spastic paraplegia 4, autosomal dominant, SPATA % 99%?Spermatogenic failure 6, SPATA % 99% Leber congenital amaurosis 3, Retinitis pigmentosa, juvenile, autosomal recessive, SPECC1L % 100% Facial clefting, oblique, 1, SPG % 98% Spastic paraplegia 11, autosomal recessive, SPG % 100% Troyer syndrome, SPG % 100% Mast syndrome, SPG % 86% Spastic paraplegia 7, autosomal recessive, SPINK % 99% Pancreatitis,hereditary, Tropical calcific pancreatitis, SPINK % 99% Netherton syndrome, SPINT % 60% Diarrhea 3 secretory sodium congenital syndromic, SPR % 88% Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, SPRED % 100% Legius syndrome, SPRY % 100% Hypogonadotropic hypogonadism 17 with or without anosmia, SPTA % 99% Elliptocytosis-2, Pyropoikilocytosis, Spherocytosis,type 3, SPTAN % 98% Epileptic encephalopathy, early infantile, 5 SPTB % 100% Anemia,neonatal hemolytic,fatal and near-fatal Elliptocytosis-3 Spherocytosis,type 2, SPTBN % 97% Spinocerebellar ataxia 5, Spinocerebellar ataxia, autosomal recessive 14, SPTLC % 91% Neuropathy, hereditary sensory and autonomic, type IA, SPTLC % 99% Neuropathy, hereditary sensory and autonomic, type IC, SQSTM % 96% Paget disease of bone,

125 SRC % 91% Colon cancer,advanced,somatic SRCAP % 99% Floating-Harbor syndrome, SRD5A % 97% Congenital disorder of glycosylation, type Iq, Kahrizi syndrome, SRP % 100% Bone marrow failure syndrome 1, SRPX % 99% Rolandic epilepsy, mental retardation, and speech dyspraxia, SRY 2.4 1% 1% 46XX sex reversal 1, XY sex reversal 1, SSTR % 87% Somatostatin analog, resistance to ST % 92% Ichthyosis with hypotrichosis, ST3GAL % 100% Mental retardation, autosomal recessive 12, Epileptic encephalopathy, early infantile, 15, ST3GAL % 92% Amish infantile epilepsy syndrome, STAC % 100% Native American myopathy, STAMBP % 99% Microcephaly-capillary malformation syndrome, STAR % 100% Lipoid adrenal hyperplasia, STAT % 99% Mycobacterial infection, atypical, familial disseminated, STAT % 98% Hyper-IgE recurrent infection syndrome, STAT5B % 74% Growth hormone insensitivity with immunodeficiency, Leukemia, acute promyelocytic, STAT5B/RARA type STIL % 100% Microcephaly 7, primary, autosomal recessive, STIM % 94% Immunodeficiency 10, Myopathy, tubular aggregate, 1, Stormorken syndrome, STK % 96% Peutz-Jeghers syndrome, Melanoma, malignant, somatic Pancreatic cancer, Testicular tumor, somatic, STK % 98% T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, STOX % 89% Preeclampsia/eclampsia 4, STRA % 96% Microphthalmia, syndromic 9,

126 STRADA % 92% Polyhydramnios,megalencephaly,and symptomatic epilepsy, STRC % 15% Deafness, autosomal recessive 16, STS % 100% Ichthyosis, X-linked, STX % 100% Hemophagocytic lymphohistiocytosis, familial, 4, STX % 98% Pseudohypoparathyroidism, type IB, STXBP % 99% Epileptic encephalopathy,early infantile,4, STXBP % 97% Hemophagocytic lymphohistiocytosis, familial, 5, SUCLA % 85% Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with/without methylmalonic aciduria), SUCLG % 93% Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), SUFU % 91% Medulloblastoma, desmoplastic, {Meningioma, familial, susceptibility to}, SUMF % 95% Multiple sulfatase deficiency, SUMO % 44% 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 % 72% Epilepsy, X-linked, with variable learning disabilities and behavior disorders, SYNE % 98% Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Spinocerebellar ataxia, autosomal recessive 8, SYNE % 96% Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE % 100% Deafness, autosomal recessive 76, SYNGAP % 80% Mental retardation, autosomal dominant 5, SYNJ % 98% Parkinson disease 20,early-onset, SYP % 99% Mental retardation, X-linked 96, SYT % 93% Spinocerebellar ataxia, autosomal recessive 11, SZT % 95% Epileptic encephalopathy, early infantile, 18, T % 96% Sacral agenesis with vertebral anomalies,615709

127 TAB % 99% Congenital heart defects, nonsyndromic, 2, TAC % 100% Hypogonadotropic hypogonadism 10 with or without anosmia, TACR % 100% Hypogonadotropic hypogonadism 11 with or without anosmia, TACSTD % 94% Corneal dystrophy, gelatinous drop-like, TAF % 100% Dystonia-Parkinsonism, X-linked, TAF % 100% Mental retardation, autosomal recessive 40, TAL % 59% Leukemia,T-cell acute lymphocytic,somatic, TAL % 100% Leukemia,T-cell acute lymphocytic,somatic, TALDO % 100% Transaldolase deficiency, TAP % 19% Bare lymphocyte syndrome, type I, TAP % 22% Bare lymphocyte syndrome, type I, due to TAP2 deficiency, TAPBP 19 68% 30% Bare lymphocyte syndrome, type I, TARDBP % 35% Amyotrophic lateral sclerosis 10, with or without FTD, Frontotemporal lobar degeneration, TARDBP-related, TAT % 100% Tyrosinemia, type II, TAZ % 100% Barth syndrome, TBC1D % 92% Warburg micro syndrome 4, TBC1D % 99% 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}, TBX % 69% Conotruncal anomaly face syndrome, TBX % 95% Cousin syndrome, TBX % 100% Adrenocorticotropic hormone deficiency, TBX % 64% Atrial septal defect 4, TBX % 83% Asthma and nasal polyps, TBX % 97% Cleft palate with ankyloglossia, ?Abruzzo-Erickson syndrome,

128 TBX % 91% Ulnar-mammary syndrome, TBX % 92% Small patella syndrome, TBX % 97% Holt-Oram syndrome, TBXAS % 100% Ghosal hematodiaphyseal syndrome, ?Thromboxane synthase deficiency, TCAP % 55% Muscular dystrophy, limb-girdle, type 2G, Cardiomyopathy, dilated, 1N, TCF % 100% Craniosynostosis 3, TCF % 97% Pitt-Hopkins syndrome, TCIRG % 81% Osteopetrosis, autosomal recessive 1, TCN % 93% Transcobalamin II deficiency, TCOF % 99% Treacher Collins syndrome 1, TCTN % 95% Joubert syndrome 13, TCTN % 97%?Meckel syndrome 8, TCTN % 99% Joubert syndrome 18, Orofaciodigital syndrome IV, TDGF % 97% Forebrain defects Forebrain defects (de la Cruz (2002) Hum Genet 110, 422) Congenital heart defects (Roessler (2008) Am J Hum Genet 83, 18) 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 % 92% Mental retardation, autosomal recessive 14, TECTA % 99% Deafness, autosomal dominant 8/12, Deafness,autosomal recessive 21, TEK % 99% Venous malformations multiple cutaneous and mucosal, TENM % 99% Microphthalmia, isolated, with coloboma 9, TET % 99% Myelodysplastic syndrome,somatic, TEX % 0% No OMIM phenotype TF % 97% Atransferrinemia, TFAP2A % 87% Branchiooculofacial syndrome,

129 TFAP2B % 100% Char syndrome, TFE % 95% Renal cell carcinoma, TFG % 96%?Spastic paraplegia 57,autosomal recessive, Hereditary motor and sensory neuropathy,okinawa type, TFR % 88% Hemochromatosis, type 3, TG % 99% Thyroid dyshormonogenesis 3, {Autoimmune thyroid disease,susceptibility to}, TGFB % 81% Camurati-Engelmann disease, {Cystic fibrosis lung disease, modifier of}, TGFB % 97% Loeys-Dietz syndrome type 4, TGFB % 100% Arrhythmogenic right ventricular dysplasia 1, TGFBI % 99% Corneal dystrophy, Avellino type, Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, lattice type IIIA, Corneal dystrophy, Reis TGFBR % 93% Loeys-Dietz syndrome, type 1A, Loeys-Dietz syndrome, type 2A, {Multiple self-healing squamous epithelioma, susceptiblity to}, TGFBR % 99% Colorectal cancer, hereditary nonpolyposis, type 6, Esophageal cancer, somatic, Loeys-Dietz syndrome, type 1B, Loeys-Dietz syndrome, type 2B, TGIF % 100% Holoprosencephaly-4, TGM % 98% Ichthyosis congenital autosomal recessive 1, TGM % 100% Peeling skin syndrome acral type, TGM % 86% Spinocerebellar ataxia 35, TH % 90% Segawa syndrome,recessive, THAP % 100% Dystonia 6, torsion, THBD % 100% Thrombophilia due to thrombomodulin defect, {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, THOC % 100% Beaulieu-Boycott-Innes syndrome,

130 THPO % 93% 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 % 84% Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome, Jensen syndrome, TIMP % 99% Sorsby fundus dystrophy, TINF % 100% Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome, TJP % 95% Cholestasis, progressive familial intrahepatic 4, Hypercholanemia, familial, TK % 93% Mitochondrial DNA depletion syndrome 2 (myopathic type), TLL % 100% Atrial septal defect 6, TLR % 100% Endotoxin hyporesponsiveness {Colorectal cancer,susceptibility to}, {Macular degeneration,age-related,10}, TMC % 100% Deafness, autosomal recessive 7, Deafness,autosomal dominant 36, TMC % 95% Epidermodysplasia verruciformis, TMC % 93% Epidermodysplasia verruciformis, TMCO % 100% 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 % 75% Joubert syndrome 2, Meckel syndrome 2, TMEM % 91% Joubert syndrome 20, Meckel syndrome 11, TMEM % 99% Joubert syndrome 14, TMEM38B % 100% Osteogenesis imperfecta,type XIV,615066

131 TMEM % 100% 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 % 100% COACH syndrome, Joubert syndrome 6, Meckel syndrome 3, Nephronophthisis 11, {Bardet-Biedl syndrome 14,modifier of}, TMEM % 100% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, TMIE % 80% Deafness, autosomal recessive 6, TMLHE % 84% Epsilon-trimethyllysine hydrolylase deficiency, TMPRSS % 100% Enterokinase deficiency, TMPRSS % 97% Deafness, autosomal recessive 8/10, TMPRSS % 97% Iron-refractory iron deficiency anemia, TNC % 94% Deafness, autosomal dominant 56, TNFRSF10B % 100% Squamous cell carcinoma,head and neck, TNFRSF11A % 91% Osteolysis, familial expansile, Paget disease of bone, Osteopetrosis, autosomal recessive 7, TNFRSF11B % 100% Paget disease of bone 5, juvenile-onset, TNFRSF13B % 96% Immunoglobulin A deficiency 2, TNFRSF13C % 62% Immunodeficiency, common variable, 4, TNFRSF1A % 88% Periodic fever, familial, TNFSF % 100% Osteopetrosis,autosomal recessive 2, TNNC % 100% Cardiomyopathy, dilated, 1Z, Cardiomyopathy, familial hypertrophic, 13, TNNI % 97% Arthrogryposis multiplex congenita, distal, type 2B, TNNI % 94% Cardiomyopathy, familial hypertrophic, 7, Cardiomyopathy, familial restrictive, Cardiomyopathy, dilated, 2A, Cardiomyopathy, dilated, 1FF, TNNT % 92% Nemaline myopathy 5, Amish type,

132 TNNT % 94% Cardiomyopathy, familial hypertrophic, 2, Cardiomyopathy, dilated, 1D, Cardiomyopathy, familial restrictive, 3, Left ventricular noncompaction 6, TNNT % 88% Arthrogryposis,distal,type 2B, TNXB % 21% Ehlers-Danlos syndrome due to tenascin X deficiency, Vesicoureteral reflux 8, TOP % 97% DNA topoisomerase I,camptothecin-resistant TOP2A % 99% DNA topoisomerase II,resistance to inhibition of,by amsacrine TOPORS % 100% Retinitis pigmentosa 31, TOR1A % 98% Dystonia-1, torsion, Dystonia, early-onset atypical, with myoclonic features {Dystonia-1, modifier of} TP % 94% Colorectal cancer, Li-Fraumeni syndrome, Hepatocellular carcinoma, Osteosarcoma, Choroid plexus papilloma, Nasopharyngeal carcinoma, Pancreatic cancer, Adrenal cortical carcinoma, Breast canc TP % 100% ADULT syndrome, Ectrodactyly,ectodermal dysplasia,cleft lip/palate syndrome 3, Hay-Wells syndrome, Limb-mammary syndrome, Orofacial cleft 8, Rapp-Hodgkin syndrome, Split-hand/foot malformation 4, TPI % 95% Hemolytic anemia due to triosephosphate isomerase deficiency TPK % 99% Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type),

133 TPM % 93% Cardiomyopathy, familial hypertrophic, 3, Cardiomyopathy, dilated, 1Y, Left ventricular noncompaction 9, TPM % 99% Arthrogryposis multiplex congenita, distal, type 1, Arthrogryposis, distal, type 2B, Nemaline myopathy 4, autosomal dominant, CAP myopathy 2, TPM % 75% Nemaline myopathy 1, autosomal dominant or recessive, CAP myopathy 1, Myopathy congenital, with fiber-type disproportion, TPMT % 100% 6-mercaptopurine sensitivity, TPO 85 97% 91% Thyroid dyshormonogenesis 2A, TPP % 100% Ceroid lipofuscinosis, neuronal, 2, TPRN % 69% Deafness, autosomal recessive 79, TRAPPC % 99% Muscular dystrophy, limb-girdle, type 2S, TRAPPC % 87% Spondyloepiphyseal dysplasia tarda, TRAPPC % 93% Mental retardation, autosomal recessive 13, TRDN 85 99% 90% Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, TREM % 98% 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% No OMIM phenotype TRIM % 100% Muscular dystrophy, limb-girdle, type 2H, Bardet-Biedl syndrome 11, TRIM % 91% No OMIM phenotype TRIM % 97% Mulibrey nanism, TRIOBP % 92% Deafness, autosomal recessive 28, TRIP % 97% Achondrogenesis,type IA, TRMU % 95% {Deafness, mitochondrial, modifier of}, Liver failure, transient infantile,

134 TRPA % 76% Episodic pain syndrome,familial, TRPC % 90% Glomerulosclerosis, focal segmental, 2, TRPM % 98% Night blindness, congenital stationary (complete), 1C, autosomal recessive, TRPM % 97% Progressive familial heart block, type IB, TRPM % 99% Hypomagnesemia 1, intestinal, TRPS % 100% Trichorhinophalangeal syndrome,type I, Trichorhinophalangeal syndrome,type III, TRPV % 94%?Palmoplantar keratoderma,nonepidermolytic,focal 2, Olmsted syndrome, TRPV % 97% Brachyolmia type 3, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Hereditary motor and sensory neuropathy, type IIc, Scapuloperoneal spinal muscular atrophy, [Sodium serum level QTL 1], TSC % 97% Tuberous sclerosis-1, Lymphangioleiomyomatosis, Focal cortical dysplasia, Taylor balloon cell type, TSC % 96% Tuberous sclerosis-2, Lymphangioleiomyomatosis, somatic, TSEN % 100% Pontocerebellar hypoplasia type 2B, TSEN % 97% Pontocerebellar hypoplasia type 2C, TSEN % 96% Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4, TSFM % 90% Combined oxidative phosphorylation deficiency 3, TSG % 98% Breast cancer,somatic, TSHB % 100% Hypothyroidism,congenital,nongoitrous 4, TSHR % 98% Hyperthyroidism,familial gestational, Hyperthyroidism,nonautoimmune, Hyperthyroidism,congenital,nongoitrous,1, Thyroid adenoma,hyperfunctioning,somatic Thyroid carcinoma with thyrotoxicosis TSHZ % 97% Aural atresia,congenital, TSPAN % 100% Exudative vitreoretinopathy 5,

135 TSPAN % 98% Mental retardation, X-linked 58, TSPEAR % 99% Deafness, autosomal recessive 98, TSPYL % 100% Sudden infant death with dysgenesis of the testes syndrome, TTBK % 99% Spinocerebellar ataxia 11, TTC % 78% Mitochondrial complex III deficiency, nuclear type 2, TTC21B % 98% Nephronophthisis 12, Short-rib thoracic dysplasia 4 with or without polydactyly, TTC % 100% Trichohepatoenteric syndrome 1, TTC7A % 94% Intestinal atresia, multiple, TTC % 99%?Retinitis pigmentosa 51, Bardet-Biedl syndrome 8, TTI % 100% Mental retardation, autosomal recessive 39, TTN % 97% Cardiomyopathy,dilated,1G, Cardiomyopathy,familial hypertrophic,9, Muscular dystrophy,limb-girdle,type 2J, Myopathy,early-onset,with fatal cardiomyopathy, Myopathy,proximal,with early respiratory muscular involvement, Ti TTPA % 76% Ataxia with isolated vitamin E deficiency, TTR % 98% Amyloidosis,hereditary,transthyretin-related, Carpal tunnel syndrome,familial, [Dystransthyretinemic hyperthyroxinemia], TUBA1A % 66% Lissencephaly 3, TUBA % 98% Polymicrogyria with optic nerve hypoplasia, TUBB % 100% Macrothrombocytopenia,autosomal dominant,tubb1-related, TUBB2A % 91% Cortical dysplasia, complex, with other brain malformations 5, TUBB2B % 91% Polymicrogyria, symmetric or asymmetric, TUBB % 86% Cortical dysplasia,complex,with other brain malformations, Fibrosis of extraocular muscles,congenital,3a, TUBB4A % 74% Dystonia 4, torsion, autosomal dominant, Leukodystrophy, hypomyelinating, 6,

136 TUBG % 84% Cortical dysplasia,complex,with other brain malformations 4, TUBGCP % 98% Microcephaly and chorioretinopathy, autosomal recessive 1, TUFM % 94% Combined oxidative phosphorylation deficiency 4, TULP % 93% Retinitis pigmentosa 14, Leber congenital amaurosis 15, TUSC % 96% Mental retardation, autosomal recessive 7, TWIST % 89% Craniosynostosis, type 1, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome, Saethre-Chotzen syndrome with eyelid anomalies, TWIST % 91% Ablepharon-macrostomia syndrome, Barber-Say syndrome, Focal facial dermal dysplasia 3,Setleis type, TYK % 98% Tyrosine kinase 2 deficiency, TYMP % 88% 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, suscept TYROBP % 100% Nasu-Hakola disease, TYRP % 99% Albinism, oculocutaneous, type III, Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair), UBA % 100% Spinal muscular atrophy, X-linked 2, infantile, UBE2A % 100% Mental retardation, X-linked syndromic, Nascimento-type, UBE3A % 100% Angelman syndrome, UBE3B % 94% Blepharophimosis-ptosis-intellectual disability syndrome, UBIAD % 100% Corneal dystrophy, Schnyder type, UBQLN % 100% Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia,

137 UBR % 100% Johanson-Blizzard syndrome, UGT1A % 63% Crigler-Najjar syndrome, type I, [Gilbert syndrome], Crigler-Najjar syndrome, type II, Hyperbilirubinemia, familial transcient neonatal, [Bilirubin, serum level of, QTL1], UMOD 87 97% 94% Glomerulocystic kidney disease with hyperuricemia and isothenuria, Hyperuricemic nephropathy, familial juvenile 1, Medullary cystic kidney disease 2, UMPS % 100% Orotic aciduria, UNC13D % 93% Hemophagocytic lymphohistiocytosis, familial, 3, UNC93B % 55% s simplex encephalitis, susceptibility to, 1, UNG % 85% Immunodeficiency with hyper IgM, type 5, UPB % 99% Beta-ureidopropionase deficiency, UPF3B % 97% Mental retardation, X-linked, syndromic 14, UQCRB % 100% Mitochondrial complex III deficiency, nuclear type 3, UQCRC % 96% Mitochondrial complex III deficiency, nuclear type 5, UQCRQ % 99% Mitochondrial complex III deficiency, nuclear type 4, UROC % 95% Urocanase deficiency, UROD % 93% Porphyria cutanea tarda, Porphyria, hepatoerythropoietic, UROS % 91% Porphyria, congenital erythropoietic, USB % 84% Poikiloderma with neutropenia, USH1C % 93% Acadian and Samaritan variety Usher syndrome, type 1C, Deafness, autosomal recessive 18A, USH1G % 90% Usher syndrome, type 1G, USH2A % 99% Usher syndrome, type 2A, Retinitis pigmentosa 39, USP9Y 0.4 0% 0% Spermatogenic failure,y-linked, UVSSA % 95% UV-sensitive syndrome 3, VANGL % 100% Caudal regression syndrome, {Neural tube defects,susceptibility to}, VANGL % 95% Neural tube defects,182940

138 VAPB % 92% Amyotrophic lateral sclerosis 8, Spinal muscular atrophy, late-onset, Finkel type, VAX % 91% 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,277440?Osteoporosis,involutional, VHL % 100% von Hippel-Lindau syndrome, Renal cell carcinoma, somatic, Pheochromocytoma, Hemangioblastoma, cerebellar, somatic Erythrocytosis, familial, 2, VIM % 100% Cataract 30, pulverulent, VIPAS % 100% Arthrogryposis, renal dysfunction, and cholestasis 2, VKORC % 99% Vitamin K-dependent clotting factors,combined deficiency of,2, Warfarin resistance, VLDLR % 99% Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, VPS13A % 99% Choreoacanthocytosis, VPS13B % 98% Cohen syndrome, VPS33B % 98% Arthrogryposis, renal dysfunction, and cholestasis 1, VPS % 92% {Parkinson disease 17}, VPS37A % 94% Spastic paraplegia 53, autosomal recessive, VPS % 94% Neutropenia, severe congenital, 5, autosomal recessive, VRK % 100% Pontocerebellar hypoplasia type 1A,607596

139 VSX % 88% Corneal dystrophy, posterior polymorphous, 1, Craniofacial anomalies and anterior segment dysgenesis syndrome, Keratoconus 1, VSX % 96% Microphthalmia with coloboma 3, Microphthalmia, isolated 2, VWF % 76% von Willebrand disease, type 1, von Willebrand disease,type 2A,2B,2M and 2N, von Willebrand disease,type 3, WAS % 94% Wiskott-Aldrich syndrome, Thrombocytopenia, X-linked, Neutropenia, severe congenital, X-linked, Thrombocytopenia, X-linked, intermittent, WDPCP 99 98% 95%?Bardet-Biedl syndrome 15, WDR % 98% Hypogonadotropic hypogonadism 14 with or without anosmia, WDR % 100%?Cranioectodermal dysplasia 4,614378?Short-rib thoracic dysplasia 5 with or without polydactyly, Nephronophthisis 13, Senior-Loken syndrome 8, WDR % 95% Short-rib thoracic dysplasia 11 with or without polydactyly, WDR % 99% Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, WDR % 94% Glaucoma 1,open angle,g, WDR % 93% Neurodegeneration with brain iron accululation 5, WDR % 99% Short-rib thoracic dysplasia 8 with or without polydactyly, WDR % 96% Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, WDR % 100% Amelogenesis imperfecta hypomaturation type IIA3, WDR % 97% Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2,

140 WFS % 100%?Cataract 41, Deafness,autosomal dominant 6/14/38, Wolfram syndrome, Wolfram-like syndrome,autosomal dominant, {Diabetes mellitus,noninsulin-dependent,association with}, WHSC1L % 97% Leukemia,acute myeloid, WIPF % 95% Wiskott-Aldrich syndrome 2, WISP % 100% Arthropathy,progressive pseudorheumatoid,of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy, WNK % 99% Neuropathy,hereditary sensory and autonomic type II, Pseudohypoaldosteronism, type IIC, WNK % 99% Pseudohypoaldosteronism, type IIB, WNT % 90% Osteogenesis imperfecta,type XV, {Osteoporosis,early-onset,susceptibility to,autosomal dominant, WNT10A % 81% Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis,selective,4, WNT10B % 95% Split-hand/foot malformation 6, WNT % 94%?Tetra-amelia syndrome, WNT % 92% Mullerian aplasia and hyperandrogenism, SERKAL syndrome, WNT5A % 99% Robinow syndrome autosomal dominant, WNT7A % 100% Fuhrmann syndrome, Ulna and fibula,absence of,with severe limb deficiency, 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,

141 Mesothelioma, somatic, WWOX % 97% Epileptic encephalopathy, early infantile, 28, Esophageal squamous cell carcinoma, somatic, Spinocerebellar ataxia, autosomal recessive, 12, XDH % 100% Xanthinuria, type I, XIAP % 81% Lymphoproliferative syndrome, X-linked, 2, XK % 100% McLeod syndrome with or without chronic granulomatous disease, XPA % 96% Xeroderma pigmentosum, group A, XPC % 97% Xeroderma pigmentosum, group C, XPNPEP % 96% Nephronophthisis-like nephropathy 1, YAP % 83% Coloboma, ocular with or without hearing impairment, cleft lip/palate and mental retardation, YARS % 98% Charcot-Marie-Tooth disease, dominant intermediate C, YARS % 100% Myopathy, lactic acidosis, and sideroblastic anemia 2, ZAP % 93% Selective T-cell defect, ZBTB % 99% Leukemia, acute promyelocytic, PL2F/RARA type Skeletal defects, genital hypoplasia, and mental retardation, ZBTB % 100% Immunodeficiency-centromeric instability-facial anomalies syndrome-2, ZC4H % 94% Wieacker-Wolff syndrome, ZDHHC % 99% Mental retardation, X-linked syndromic, Raymond type, ZEB % 97% Corneal dystrophy, Fuchs endothelial, 6, Corneal dystrophy, posterior polymorphous, 3, ZEB % 100% Mowat-Wilson syndrome, ZFP % 34% Diabetes mellitus,transient neonatal,1, ZFPM % 98% Tetralogy of Fallot, Diaphragmatic hernia 3,

142 ZFYVE % 95% Spastic paraplegia 15, autosomal recessive, ZFYVE % 97% Spastic paraplegia 33, autosomal dominant, ZIC % 83% Holoprosencephaly-5, ZIC % 100% Heterotaxy, visceral, 1, X-linked Congenital heart defects, nonsyndromic, 1, X-linked, VACTERL association, X-linked, ZMPSTE % 100% Mandibuloacral dysplasia with type B lipodystrophy, Restrictive dermopathy,lethal, ZMYND % 96% Ciliary dyskinesia, primary, 22, ZNF % 96%?Microcephaly 10,primary,autosomal recessive, ZNF % 99% Joubert syndrome 19, Nephronophthisis 14, ZNF % 99% Brittle cornea syndrome 1, ZNF % 96% Retinitis pigmentosa 58, ZNF % 91% 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 % 99% Mental retardation, X-linked 45,

143 Gene symbols used follow HGCN guidelines: Gray KA, Yates B, Seal RL, Wright MW, Bruford EA. Nucleic Acids Res Jan;43(Database issue):d 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 : November 15th, 2015 This list is accurate for all panel versions starting with DG 2.4. (where x is a random number signifying a minor analysis patch without consequences for the panel composition or coverage information) Ad 1. No OMIM phenotype signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors