Benutzen Sie bitte das Suchfeld | Please use the search field \u25bc<\/p>\n\n\n\n
| OMIM number<\/th> | Gene<\/th> | Possible Phenotypes<\/th>\n<\/tr>\n<\/thead>\n |
|---|---|---|
| 610627<\/td> | A2ML1<\/td> | Otitis media, susceptibility to<\/td>\n<\/tr>\n |
| 607922<\/td> | A4GALT<\/td> | Blood group, P1Pk system, P(2) phenotype; NOR polyagglutination syndrome; Blood group, P1Pk system, p phenotype<\/td>\n<\/tr>\n |
| 104000<\/td> | AA1<\/td> | Alopecia areata 1, Multifactorial<\/td>\n<\/tr>\n |
| 610753<\/td> | AA2<\/td> | Alopecia areata 2<\/td>\n<\/tr>\n |
| 100070<\/td> | AAA1<\/td> | Aortic aneurysm, familial abdominal 1<\/td>\n<\/tr>\n |
| 609782<\/td> | AAA2<\/td> | Aortic aneurysm, familial abdominal 2<\/td>\n<\/tr>\n |
| 611891<\/td> | AAA3<\/td> | Aneurysm, familial abdominal 3<\/td>\n<\/tr>\n |
| 614375<\/td> | AAA4<\/td> | Aortic aneurysm, familial abdominal 4<\/td>\n<\/tr>\n |
| 605378<\/td> | AAAS<\/td> | Achalasia-addisonianism-alacrimia syndrome<\/td>\n<\/tr>\n |
| 614888<\/td> | AAGAB<\/td> | Keratoderma, palmoplantar, punctate type IA<\/td>\n<\/tr>\n |
| 601065<\/td> | AARS1<\/td> | Developmental and epileptic encephalopathy 29; Charcot-Marie-Tooth disease, axonal, type 2N; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive<\/td>\n<\/tr>\n |
| 612035<\/td> | AARS2<\/td> | Leukoencephalopathy, progressive, with ovarian failure; Combined oxidative phosphorylation deficiency 8<\/td>\n<\/tr>\n |
| 605113<\/td> | AASS<\/td> | Hyperlysinemia<\/td>\n<\/tr>\n |
| 607086<\/td> | AAT1<\/td> | Aortic aneurysm, familial thoracic 1<\/td>\n<\/tr>\n |
| 607087<\/td> | AAT2<\/td> | Aortic aneurysm, familial thoracic 2<\/td>\n<\/tr>\n |
| 137150<\/td> | ABAT<\/td> | GABA-transaminase deficiency<\/td>\n<\/tr>\n |
| 600046<\/td> | ABCA1<\/td> | Tangier disease; HDL deficiency, familial, 1<\/td>\n<\/tr>\n |
| 607800<\/td> | ABCA12<\/td> | Ichthyosis, congenital 4B (harlequin); Ichthyosis, congenital 4A<\/td>\n<\/tr>\n |
| 600047<\/td> | ABCA2<\/td> | Intellectual developmental disorder with poor growth and with or without seizures or ataxia<\/td>\n<\/tr>\n |
| 601615<\/td> | ABCA3<\/td> | Surfactant metabolism dysfunction, pulmonary, 3<\/td>\n<\/tr>\n |
| 601691<\/td> | ABCA4<\/td> | Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Macular degeneration, age-related, 2; Cone-rod dystrophy 3; Fundus flavimaculatus; Stargardt disease 1<\/td>\n<\/tr>\n |
| 612503<\/td> | ABCA5<\/td> | Hypertrichosis, congenital generalized, with gingival hyperplasia<\/td>\n<\/tr>\n |
| 605414<\/td> | ABCA7<\/td> | Alzheimer disease 9, susceptibility to<\/td>\n<\/tr>\n |
| 171050<\/td> | ABCB1<\/td> | Encephalopathy, acute transient; Inflammatory bowel disease 13; Colchicine resistance<\/td>\n<\/tr>\n |
| 603201<\/td> | ABCB11<\/td> | Cholestasis, benign recurrent intrahepatic, 2; Cholestasis, progressive familial intrahepatic 2<\/td>\n<\/tr>\n |
| 171060<\/td> | ABCB4<\/td> | Gallbladder disease 1; Cholestasis, intrahepatic, of pregnancy, 3; Cholestasis, progressive familial intrahepatic 3<\/td>\n<\/tr>\n |
| 605452<\/td> | ABCB6<\/td> | Dyschromatosis universalis hereditaria 3; Blood group, Langereis system; Pseudohyperkalemia, familial, 2, due to red cell leak; Microphthalmia\/coloboma 7<\/td>\n<\/tr>\n |
| 300135<\/td> | ABCB7<\/td> | Anemia, sideroblastic, with ataxia, X-linked<\/td>\n<\/tr>\n |
| 158343<\/td> | ABCC1<\/td> | Deafness 77<\/td>\n<\/tr>\n |
| 607040<\/td> | ABCC11<\/td> | Axillary odor, variation in; Earwax, wet\/dry; Colostrum secretion, variation in<\/td>\n<\/tr>\n |
| 601107<\/td> | ABCC2<\/td> | Dubin-Johnson syndrome<\/td>\n<\/tr>\n |
| 603234<\/td> | ABCC6<\/td> | Pseudoxanthoma elasticum; Arterial calcification, generalized, of infancy, 2; Pseudoxanthoma elasticum, forme fruste<\/td>\n<\/tr>\n |
| 600509<\/td> | ABCC8<\/td> | Diabetes mellitus, permanent neonatal 3, with or without neurologic features; Diabetes mellitus, transient neonatal 2; Diabetes mellitus, noninsulin-dependent; Hypoglycemia of infancy, leucine-sensitive; Hyperinsulinemic hypoglycemia, familial, 1<\/td>\n<\/tr>\n |
| 601439<\/td> | ABCC9<\/td> | Cardiomyopathy, dilated, 1O; Hypertrichotic osteochondrodysplasia (Cantu syndrome); Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome<\/td>\n<\/tr>\n |
| 300371<\/td> | ABCD1<\/td> | Adrenoleukodystrophy, X-linked recessive; Adrenomyeloneuropathy, adult, X-linked recessive<\/td>\n<\/tr>\n |
| 170995<\/td> | ABCD3<\/td> | Bile acid synthesis defect, congenital, 5<\/td>\n<\/tr>\n |
| 603214<\/td> | ABCD4<\/td> | Methylmalonic aciduria and homocystinuria, cblJ type<\/td>\n<\/tr>\n |
| 603756<\/td> | ABCG2<\/td> | Junior blood group system; Uric acid concentration, serum, QTL1, Autosomal dominant<\/td>\n<\/tr>\n |
| 605459<\/td> | ABCG5<\/td> | Sitosterolemia 2<\/td>\n<\/tr>\n |
| 605460<\/td> | ABCG8<\/td> | Sitosterolemia 1; Gallbladder disease 4<\/td>\n<\/tr>\n |
| 613599<\/td> | ABHD12<\/td> | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract<\/td>\n<\/tr>\n |
| 142620<\/td> | ABHD16A<\/td> | Spastic paraplegia 86<\/td>\n<\/tr>\n |
| 604780<\/td> | ABHD5<\/td> | Chanarin-Dorfman syndrome<\/td>\n<\/tr>\n |
| 189980<\/td> | ABL1<\/td> | Leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation; Congenital heart defects and skeletal malformations syndrome<\/td>\n<\/tr>\n |
| 110300<\/td> | ABO<\/td> | Blood group, ABO system<\/td>\n<\/tr>\n |
| 200350<\/td> | ACACA<\/td> | Acetyl-CoA carboxylase deficiency<\/td>\n<\/tr>\n |
| 604773<\/td> | ACAD8<\/td> | Isobutyryl-CoA dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 611103<\/td> | ACAD9<\/td> | Mitochondrial complex I deficiency, nuclear type 20<\/td>\n<\/tr>\n |
| 607008<\/td> | ACADM<\/td> | Acyl-CoA dehydrogenase, medium chain, deficiency of<\/td>\n<\/tr>\n |
| 606885<\/td> | ACADS<\/td> | Acyl-CoA dehydrogenase, short-chain, deficiency of<\/td>\n<\/tr>\n |
| 600301<\/td> | ACADSB<\/td> | 2-methylbutyrylglycinuria<\/td>\n<\/tr>\n |
| 609575<\/td> | ACADVL<\/td> | VLCAD deficiency<\/td>\n<\/tr>\n |
| 155760<\/td> | ACAN<\/td> | Spondyloepiphyseal dysplasia, Kimberley type; Short stature and advanced bone age, with or without early-onset osteoarthritis and\/or osteochondritis dissecans; Spondyloepimetaphyseal dysplasia, aggrecan type<\/td>\n<\/tr>\n |
| 607809<\/td> | ACAT1<\/td> | Alpha-methylacetoacetic aciduria<\/td>\n<\/tr>\n |
| 100678<\/td> | ACAT2<\/td> | ACAT2 deficiency, Isolated cases<\/td>\n<\/tr>\n |
| 616618<\/td> | ACBD5<\/td> | Retinal dystrophy with leukodystrophy<\/td>\n<\/tr>\n |
| 616352<\/td> | ACBD6<\/td> | Neurodevelopmental disorder with progressive movement abnormalities<\/td>\n<\/tr>\n |
| 609377<\/td> | ACD<\/td> | Dyskeratosis congenita 7; Dyskeratosis congenita 6<\/td>\n<\/tr>\n |
| 106180<\/td> | ACE<\/td> | Stroke, hemorrhagic; Renal tubular dysgenesis; Myocardial infarction, susceptibility to; Microvascular complications of diabetes 3; Angiotensin I-converting enzyme, benign serum increase; SARS, progression of<\/td>\n<\/tr>\n |
| 617036<\/td> | ACER3<\/td> | Leukodystrophy, progressive, early childhood-onset<\/td>\n<\/tr>\n |
| 125520<\/td> | ACF<\/td> | Cayler cardiofacial syndrome<\/td>\n<\/tr>\n |
| 100740<\/td> | ACHE<\/td> | Blood group, Yt system<\/td>\n<\/tr>\n |
| 613665<\/td> | ACKR1<\/td> | Blood group, Duffy system; White blood cell count QTL; Malaria, vivax, protection against<\/td>\n<\/tr>\n |
| 610376<\/td> | ACKR3<\/td> | Oculomotor-abducens synkinesis<\/td>\n<\/tr>\n |
| 100850<\/td> | ACO2<\/td> | Optic atrophy 9; Infantile cerebellar-retinal degeneration<\/td>\n<\/tr>\n |
| 609751<\/td> | ACOX1<\/td> | Mitchell syndrome; Peroxisomal acyl-CoA oxidase deficiency<\/td>\n<\/tr>\n |
| 601641<\/td> | ACOX2<\/td> | Bile acid synthesis defect, congenital, 6<\/td>\n<\/tr>\n |
| 171650<\/td> | ACP2<\/td> | Lysosomal acid phosphatase deficiency<\/td>\n<\/tr>\n |
| 606362<\/td> | ACP4<\/td> | Amelogenesis imperfecta, type IJ<\/td>\n<\/tr>\n |
| 171640<\/td> | ACP5<\/td> | Spondyloenchondrodysplasia with immune dysregulation<\/td>\n<\/tr>\n |
| 102480<\/td> | ACR<\/td> | Spermatogenic failure 87<\/td>\n<\/tr>\n |
| 605967<\/td> | ACRPS<\/td> | Acropectoral syndrome<\/td>\n<\/tr>\n |
| 102510<\/td> | ACRPV<\/td> | Acropectorovertebral dysplasia<\/td>\n<\/tr>\n |
| 614245<\/td> | ACSF3<\/td> | Combined malonic and methylmalonic aciduria<\/td>\n<\/tr>\n |
| 300157<\/td> | ACSL4<\/td> | Intellectual developmental disorder, X-linked 63, X-linked dominant<\/td>\n<\/tr>\n |
| 605677<\/td> | ACSL5<\/td> | Diarrhea 13<\/td>\n<\/tr>\n |
| 145505<\/td> | ACSM3<\/td> | Hypertension, essential<\/td>\n<\/tr>\n |
| 102610<\/td> | ACTA1<\/td> | Congenital myopathy 2B, severe infantile; Myopathy, scapulohumeroperoneal; Congenital myopathy 2C, severe infantile; Congenital myopathy 2A, typical<\/td>\n<\/tr>\n |
| 102620<\/td> | ACTA2<\/td> | Smooth muscle dysfunction syndrome; Aortic aneurysm, familial thoracic 6; Moyamoya disease 5<\/td>\n<\/tr>\n |
| 102630<\/td> | ACTB<\/td> | Baraitser-Winter syndrome 1; Becker nevus, syndromic or isolated, somatic mosaic; Thrombocytopenia 8, with dysmorphic features and developmental delay; Dystonia-deafness syndrome 1; Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic<\/td>\n<\/tr>\n |
| 102540<\/td> | ACTC1<\/td> | Left ventricular noncompaction 4; Cardiomyopathy, hypertrophic, 11; Atrial septal defect 5; Cardiomyopathy, dilated, 1R<\/td>\n<\/tr>\n |
| 142700<\/td> | ACTD<\/td> | Developmental dysplasia of the hip 1, Multifactorial<\/td>\n<\/tr>\n |
| 102560<\/td> | ACTG1<\/td> | Deafness 20\/26; Baraitser-Winter syndrome 2<\/td>\n<\/tr>\n |
| 102545<\/td> | ACTG2<\/td> | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5; Visceral myopathy 1<\/td>\n<\/tr>\n |
| 612458<\/td> | ACTL6B<\/td> | Developmental and epileptic encephalopathy 76; Intellectual developmental disorder with severe speech and ambulation defects<\/td>\n<\/tr>\n |
| 604303<\/td> | ACTL7A<\/td> | Spermatogenic failure 86<\/td>\n<\/tr>\n |
| 619251<\/td> | ACTL9<\/td> | Spermatogenic failure 53<\/td>\n<\/tr>\n |
| 102575<\/td> | ACTN1<\/td> | Bleeding disorder, platelet-type, 15<\/td>\n<\/tr>\n |
| 102573<\/td> | ACTN2<\/td> | Myopathy, distal, 6, adult onset; Cardiomyopathy, hypertrophic, 23, with or without LVNC; Congenital myopathy 8; Cardiomyopathy, dilated, 1AA, with or without LVNC<\/td>\n<\/tr>\n |
| 102574<\/td> | ACTN3<\/td> | Sprinting performance; Alpha-actinin-3 deficiency<\/td>\n<\/tr>\n |
| 604638<\/td> | ACTN4<\/td> | Glomerulosclerosis, focal segmental, 1<\/td>\n<\/tr>\n |
| 102576<\/td> | ACVR1<\/td> | Fibrodysplasia ossificans progressiva<\/td>\n<\/tr>\n |
| 601300<\/td> | ACVR1B<\/td> | Pancreatic cancer, somatic<\/td>\n<\/tr>\n |
| 602730<\/td> | ACVR2B<\/td> | Heterotaxy, visceral, 4, autosomal<\/td>\n<\/tr>\n |
| 601284<\/td> | ACVRL1<\/td> | Telangiectasia, hereditary hemorrhagic, type 2<\/td>\n<\/tr>\n |
| 104620<\/td> | ACY1<\/td> | Aminoacylase 1 deficiency<\/td>\n<\/tr>\n |
| 609636<\/td> | AD10<\/td> | Alzheimer disease-10<\/td>\n<\/tr>\n |
| 609790<\/td> | AD11<\/td> | Alzheimer disease-11<\/td>\n<\/tr>\n |
| 611073<\/td> | AD12<\/td> | Alzheimer disease 12<\/td>\n<\/tr>\n |
| 611152<\/td> | AD13<\/td> | Alzheimer disease-13<\/td>\n<\/tr>\n |
| 611154<\/td> | AD14<\/td> | Alzheimer disease-14<\/td>\n<\/tr>\n |
| 604154<\/td> | AD15<\/td> | Alzheimer disease-15<\/td>\n<\/tr>\n |
| 300756<\/td> | AD16<\/td> | Alzheimer disease 16<\/td>\n<\/tr>\n |
| 602096<\/td> | AD5<\/td> | Alzheimer disease-5<\/td>\n<\/tr>\n |
| 605526<\/td> | AD6<\/td> | Alzheimer disease 6<\/td>\n<\/tr>\n |
| 606187<\/td> | AD7<\/td> | Alzheimer disease-7<\/td>\n<\/tr>\n |
| 607116<\/td> | AD8<\/td> | Alzheimer disease 8<\/td>\n<\/tr>\n |
| 608958<\/td> | ADA<\/td> | Adenosine deaminase deficiency, partial, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, Somatic mosaicism<\/td>\n<\/tr>\n |
| 607575<\/td> | ADA2<\/td> | Sneddon syndrome; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome<\/td>\n<\/tr>\n |
| 602192<\/td> | ADAM10<\/td> | Alzheimer disease 18, susceptibility to; Reticulate acropigmentation of Kitamura<\/td>\n<\/tr>\n |
| 603639<\/td> | ADAM17<\/td> | Inflammatory skin and bowel disease, neonatal, 1<\/td>\n<\/tr>\n |
| 603709<\/td> | ADAM22<\/td> | Developmental and epileptic encephalopathy 61<\/td>\n<\/tr>\n |
| 602713<\/td> | ADAM9<\/td> | Cone-rod dystrophy 9<\/td>\n<\/tr>\n |
| 608990<\/td> | ADAMTS10<\/td> | Weill-Marchesani syndrome 1, recessive<\/td>\n<\/tr>\n |
| 604134<\/td> | ADAMTS13<\/td> | Thrombotic thrombocytopenic purpura, hereditary<\/td>\n<\/tr>\n |
| 607509<\/td> | ADAMTS15<\/td> | Arthrogryposis, distal, type 12<\/td>\n<\/tr>\n |
| 607511<\/td> | ADAMTS17<\/td> | Weill-Marchesani 4 syndrome, recessive<\/td>\n<\/tr>\n |
| 607512<\/td> | ADAMTS18<\/td> | Microcornea, myopic chorioretinal atrophy, and telecanthus<\/td>\n<\/tr>\n |
| 607513<\/td> | ADAMTS19<\/td> | Cardiac valvular dysplasia 2<\/td>\n<\/tr>\n |
| 604539<\/td> | ADAMTS2<\/td> | Ehlers-Danlos syndrome, dermatosparaxis type<\/td>\n<\/tr>\n |
| 605011<\/td> | ADAMTS3<\/td> | Hennekam lymphangiectasia-lymphedema syndrome 3<\/td>\n<\/tr>\n |
| 612277<\/td> | ADAMTSL2<\/td> | Geleophysic dysplasia 1<\/td>\n<\/tr>\n |
| 610113<\/td> | ADAMTSL4<\/td> | Ectopia lentis et pupillae; Ectopia lentis, isolated<\/td>\n<\/tr>\n |
| 146920<\/td> | ADAR<\/td> | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome 6<\/td>\n<\/tr>\n |
| 601218<\/td> | ADARB1<\/td> | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures<\/td>\n<\/tr>\n |
| 615302<\/td> | ADAT3<\/td> | Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies<\/td>\n<\/tr>\n |
| 103072<\/td> | ADCY1<\/td> | Deafness 44<\/td>\n<\/tr>\n |
| 605205<\/td> | ADCY10<\/td> | Hypercalciuria, absorptive, susceptibility to<\/td>\n<\/tr>\n |
| 600291<\/td> | ADCY3<\/td> | Obesity, susceptibility to, BMIQ19<\/td>\n<\/tr>\n |
| 600293<\/td> | ADCY5<\/td> | Dyskinesia with orofacial involvement; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia; Dyskinesia with orofacial involvement<\/td>\n<\/tr>\n |
| 600294<\/td> | ADCY6<\/td> | Lethal congenital contracture syndrome 8<\/td>\n<\/tr>\n |
| 102680<\/td> | ADD1<\/td> | Hypertension, essential, salt-sensitive, Multifactorial<\/td>\n<\/tr>\n |
| 601568<\/td> | ADD3<\/td> | Cerebral palsy, spastic quadriplegic, 3<\/td>\n<\/tr>\n |
| 300700<\/td> | ADFN<\/td> | Albinism-deafness syndrome, X-linked<\/td>\n<\/tr>\n |
| 606100<\/td> | ADGRE2<\/td> | Vibratory urticaria<\/td>\n<\/tr>\n |
| 604110<\/td> | ADGRG1<\/td> | Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian); Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)<\/td>\n<\/tr>\n |
| 300572<\/td> | ADGRG2<\/td> | Congenital bilateral absence of vas deferens, X-linked, X-linked<\/td>\n<\/tr>\n |
| 612243<\/td> | ADGRG6<\/td> | Lethal congenital contracture syndrome 9<\/td>\n<\/tr>\n |
| 616416<\/td> | ADGRL1<\/td> | Developmental delay, behavioral abnormalities, and neuropsychiatric disorders<\/td>\n<\/tr>\n |
| 602851<\/td> | ADGRV1<\/td> | Usher syndrome, type 2C, Digenic dominant; Usher syndrome, type 2C, GPR98\/PDZD7 digenic, Digenic dominant; Febrile seizures, familial, 4<\/td>\n<\/tr>\n |
| 103720<\/td> | ADH1B<\/td> | Aerodigestive tract cancer, squamous cell, alcohol-related, protection against, Multifactorial; Alcohol dependence, protection against, Multifactorial<\/td>\n<\/tr>\n |
| 103730<\/td> | ADH1C<\/td> | Alcohol dependence, protection against, Multifactorial; Parkinson disease, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 103710<\/td> | ADH5<\/td> | AMED syndrome, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 608903<\/td> | ADHD1<\/td> | Attention deficit-hyperactivity disorder, susceptibility to, 1<\/td>\n<\/tr>\n |
| 608904<\/td> | ADHD2<\/td> | Attention deficit-hyperactivity disorder, susceptibility to, 2<\/td>\n<\/tr>\n |
| 608905<\/td> | ADHD3<\/td> | Attention deficit-hyperactivity disorder, susceptibility to, 3<\/td>\n<\/tr>\n |
| 608906<\/td> | ADHD4<\/td> | Attention deficit-hyperactivity disorder, susceptibility to, 4<\/td>\n<\/tr>\n |
| 612311<\/td> | ADHD5<\/td> | Attention deficit-hyperactivity disorder, susceptibility to, 5<\/td>\n<\/tr>\n |
| 612312<\/td> | ADHD6<\/td> | Attention deficit-hyperactivity disorder, susceptibility to, 6<\/td>\n<\/tr>\n |
| 605441<\/td> | ADIPOQ<\/td> | Adiponectin deficiency<\/td>\n<\/tr>\n |
| 606770<\/td> | ADIPQTL2<\/td> | Adiponectin, serum level of, QTL2<\/td>\n<\/tr>\n |
| 606771<\/td> | ADIPQTL3<\/td> | Adiponectin, serum level of, QTL3<\/td>\n<\/tr>\n |
| 612629<\/td> | ADIPQTL4<\/td> | Adiponectin, serum level of, QTL4<\/td>\n<\/tr>\n |
| 613836<\/td> | ADIPQTL5<\/td> | Adiponectin, serum level of, QTL5<\/td>\n<\/tr>\n |
| 102750<\/td> | ADK<\/td> | Hypermethioninemia due to adenosine kinase deficiency<\/td>\n<\/tr>\n |
| 611386<\/td> | ADNP<\/td> | Helsmoortel-van der Aa syndrome<\/td>\n<\/tr>\n |
| 610624<\/td> | ADPRS<\/td> | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures<\/td>\n<\/tr>\n |
| 104210<\/td> | ADRA2A<\/td> | Lipodystrophy, familial partial, type 8<\/td>\n<\/tr>\n |
| 109630<\/td> | ADRB1<\/td> | Short sleep, familial natural, 2; Resting heart rate<\/td>\n<\/tr>\n |
| 109690<\/td> | ADRB2<\/td> | Beta-2-adrenoreceptor agonist, reduced response to<\/td>\n<\/tr>\n |
| 109691<\/td> | ADRB3<\/td> | Obesity, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 608222<\/td> | ADSL<\/td> | Adenylosuccinase deficiency<\/td>\n<\/tr>\n |
| 612498<\/td> | ADSS1<\/td> | Myopathy, distal, 5<\/td>\n<\/tr>\n |
| 602981<\/td> | AEBP1<\/td> | Ehlers-Danlos syndrome, classic-like, 2<\/td>\n<\/tr>\n |
| 109200<\/td> | AFA1<\/td> | Alopecia, androgenetic, 1<\/td>\n<\/tr>\n |
| 300806<\/td> | AFF2<\/td> | Intellectual developmental disorder, X-linked 109, X-linked recessive<\/td>\n<\/tr>\n |
| 601464<\/td> | AFF3<\/td> | KINSSHIP syndrome<\/td>\n<\/tr>\n |
| 604417<\/td> | AFF4<\/td> | CHOPS syndrome<\/td>\n<\/tr>\n |
| 613940<\/td> | AFG2A<\/td> | Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities<\/td>\n<\/tr>\n |
| 619578<\/td> | AFG2B<\/td> | Deafness 119; Neurodevelopmental disorder with hearing loss and spasticity<\/td>\n<\/tr>\n |
| 604581<\/td> | AFG3L2<\/td> | Spastic ataxia 5; Optic atrophy 12; Spinocerebellar ataxia 28<\/td>\n<\/tr>\n |
| 104150<\/td> | AFP<\/td> | Hereditary persistence of alpha-fetoprotein; Alpha-fetoprotein deficiency<\/td>\n<\/tr>\n |
| 613228<\/td> | AGA<\/td> | Aspartylglucosaminuria<\/td>\n<\/tr>\n |
| 300710<\/td> | AGA2<\/td> | Alopecia, androgenetic, 2<\/td>\n<\/tr>\n |
| 612421<\/td> | AGA3<\/td> | Alopecia, androgenetic, 3<\/td>\n<\/tr>\n |
| 615496<\/td> | AGBL1<\/td> | Corneal dystrophy, Fuchs endothelial, 8<\/td>\n<\/tr>\n |
| 615900<\/td> | AGBL5<\/td> | Retinitis pigmentosa 75<\/td>\n<\/tr>\n |
| 610345<\/td> | AGK<\/td> | Cataract 38; Sengers syndrome<\/td>\n<\/tr>\n |
| 610860<\/td> | AGL<\/td> | Glycogen storage disease IIIa; Glycogen storage disease IIIb<\/td>\n<\/tr>\n |
| 606228<\/td> | AGO1<\/td> | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures<\/td>\n<\/tr>\n |
| 606229<\/td> | AGO2<\/td> | Lessel-Kreienkamp syndrome<\/td>\n<\/tr>\n |
| 603100<\/td> | AGPAT2<\/td> | Lipodystrophy, congenital generalized, type 1<\/td>\n<\/tr>\n |
| 603051<\/td> | AGPS<\/td> | Rhizomelic chondrodysplasia punctata, type 3<\/td>\n<\/tr>\n |
| 606358<\/td> | AGR2<\/td> | Respiratory infections, recurrent, and failure to thrive with or without diarrhea<\/td>\n<\/tr>\n |
| 103320<\/td> | AGRN<\/td> | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects<\/td>\n<\/tr>\n |
| 602311<\/td> | AGRP<\/td> | Leanness, inherited, Multifactorial; Obesity, late-onset, Multifactorial<\/td>\n<\/tr>\n |
| 300652<\/td> | AGSPX<\/td> | Angio serpiginosum, X-linked dominant<\/td>\n<\/tr>\n |
| 106150<\/td> | AGT<\/td> | Renal tubular dysgenesis<\/td>\n<\/tr>\n |
| 606830<\/td> | AGTPBP1<\/td> | Neurodegeneration, childhood-onset, with cerebellar atrophy<\/td>\n<\/tr>\n |
| 106165<\/td> | AGTR1<\/td> | Hypertension, essential, Multifactorial; Renal tubular dysgenesis<\/td>\n<\/tr>\n |
| 604285<\/td> | AGXT<\/td> | Hyperoxaluria, primary, type 1<\/td>\n<\/tr>\n |
| 612471<\/td> | AGXT2<\/td> | Beta-aminoisobutyric acid, urinary excretion of<\/td>\n<\/tr>\n |
| 180960<\/td> | AHCY<\/td> | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase<\/td>\n<\/tr>\n |
| 615790<\/td> | AHDC1<\/td> | Xia-Gibbs syndrome<\/td>\n<\/tr>\n |
| 608894<\/td> | AHI1<\/td> | Joubert syndrome 3<\/td>\n<\/tr>\n |
| 600253<\/td> | AHR<\/td> | Foveal hypoplasia 3; Retinitis pigmentosa 85<\/td>\n<\/tr>\n |
| 138680<\/td> | AHSG<\/td> | Alopecia-intellectual disability syndrome 1<\/td>\n<\/tr>\n |
| 304050<\/td> | AIC<\/td> | Aicardi syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 605257<\/td> | AICDA<\/td> | Immunodeficiency with hyper-IgM, type 2<\/td>\n<\/tr>\n |
| 300169<\/td> | AIFM1<\/td> | Combined oxidative phosphorylation deficiency 6, X-linked recessive; Cowchock syndrome, X-linked recessive; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive; Deafness, X-linked 5, X-linked recessive<\/td>\n<\/tr>\n |
| 301201<\/td> | AIH3<\/td> | Amelogenesis imperfecta, type IE, X-linked 2, X-linked<\/td>\n<\/tr>\n |
| 603605<\/td> | AIMP1<\/td> | Leukodystrophy, hypomyelinating, 3<\/td>\n<\/tr>\n |
| 600859<\/td> | AIMP2<\/td> | Leukodystrophy, hypomyelinating, 17<\/td>\n<\/tr>\n |
| 605555<\/td> | AIP<\/td> | Pituitary adenoma 1, multiple types, Somatic mutation; Pituitary adenoma predisposition, Somatic mutation<\/td>\n<\/tr>\n |
| 604392<\/td> | AIPL1<\/td> | Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile; Cone-rod dystrophy<\/td>\n<\/tr>\n |
| 601676<\/td> | AIR<\/td> | Acute insulin response<\/td>\n<\/tr>\n |
| 607358<\/td> | AIRE<\/td> | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia<\/td>\n<\/tr>\n |
| 608391<\/td> | AIS2<\/td> | Autoimmune disease, susceptibility to, 2<\/td>\n<\/tr>\n |
| 608392<\/td> | AIS3<\/td> | Autoimmune disease, susceptibility to, 3<\/td>\n<\/tr>\n |
| 609400<\/td> | AIS4<\/td> | Autoimmune disease, susceptibility to, 4<\/td>\n<\/tr>\n |
| 608173<\/td> | AITD1<\/td> | Autoimmune thyroid disease, susceptibility to, 1<\/td>\n<\/tr>\n |
| 608174<\/td> | AITD2<\/td> | Autoimmune thyroid disease, susceptibility to, 2<\/td>\n<\/tr>\n |
| 608176<\/td> | AITD4<\/td> | Autoimmune thyroid disease, susceptibility to, 4<\/td>\n<\/tr>\n |
| 103000<\/td> | AK1<\/td> | Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient<\/td>\n<\/tr>\n |
| 103020<\/td> | AK2<\/td> | Reticular dysgenesis<\/td>\n<\/tr>\n |
| 615364<\/td> | AK7<\/td> | Spermatogenic failure 27<\/td>\n<\/tr>\n |
| 615358<\/td> | AK9<\/td> | Spermatogenic failure 89<\/td>\n<\/tr>\n |
| 604689<\/td> | AKAP3<\/td> | Spermatogenic failure 82<\/td>\n<\/tr>\n |
| 604001<\/td> | AKAP9<\/td> | Long QT syndrome 11<\/td>\n<\/tr>\n |
| 600450<\/td> | AKR1C2<\/td> | 46XY sex reversal 8<\/td>\n<\/tr>\n |
| 600451<\/td> | AKR1C4<\/td> | 46XY sex reversal 8, modifier of<\/td>\n<\/tr>\n |
| 604741<\/td> | AKR1D1<\/td> | Bile acid synthesis defect, congenital, 2<\/td>\n<\/tr>\n |
| 164730<\/td> | AKT1<\/td> | Breast cancer, somatic; Cowden syndrome 6; Colorectal cancer, somatic; Proteus syndrome, somatic; Ovarian cancer, somatic<\/td>\n<\/tr>\n |
| 164731<\/td> | AKT2<\/td> | Diabetes mellitus, type II; Hypoinsulinemic hypoglycemia with hemihypertrophy<\/td>\n<\/tr>\n |
| 611223<\/td> | AKT3<\/td> | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2<\/td>\n<\/tr>\n |
| 125270<\/td> | ALAD<\/td> | Porphyria, acute hepatic; Lead poisoning, susceptibility to<\/td>\n<\/tr>\n |
| 301300<\/td> | ALAS2<\/td> | Anemia, sideroblastic, 1, X-linked recessive; Protoporphyria, erythropoietic, X-linked, X-linked<\/td>\n<\/tr>\n |
| 103600<\/td> | ALB<\/td> | Dysalbuminemic hypertriiodothyroninemia; Analbuminemia; Dysalbuminemic hyperthyroxinemia<\/td>\n<\/tr>\n |
| 138250<\/td> | ALDH18A1<\/td> | Spastic paraplegia 9A; Cutis laxa, type IIIA; Spastic paraplegia 9B; Cutis laxa 3<\/td>\n<\/tr>\n |
| 603687<\/td> | ALDH1A2<\/td> | Diaphragmatic hernia 4, with cardiovascular defects<\/td>\n<\/tr>\n |
| 600463<\/td> | ALDH1A3<\/td> | Microphthalmia, isolated 8<\/td>\n<\/tr>\n |
| 100650<\/td> | ALDH2<\/td> | Esophageal cancer, alcohol-related, susceptibility to; Sublingual nitroglycerin, susceptibility to poor response to; Alcohol sensitivity, acute; Hangover, susceptibility to<\/td>\n<\/tr>\n |
| 609523<\/td> | ALDH3A2<\/td> | Sjogren-Larsson syndrome<\/td>\n<\/tr>\n |
| 606811<\/td> | ALDH4A1<\/td> | Hyperprolinemia, type II<\/td>\n<\/tr>\n |
| 610045<\/td> | ALDH5A1<\/td> | Succinic semialdehyde dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 603178<\/td> | ALDH6A1<\/td> | Methylmalonate semialdehyde dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 107323<\/td> | ALDH7A1<\/td> | Epilepsy, early-onset, 4, vitamin B6-dependent<\/td>\n<\/tr>\n |
| 103850<\/td> | ALDOA<\/td> | Glycogen storage disease XII<\/td>\n<\/tr>\n |
| 612724<\/td> | ALDOB<\/td> | Fructose intolerance, hereditary<\/td>\n<\/tr>\n |
| 605907<\/td> | ALG1<\/td> | Congenital disorder of glycosylation, type Ik<\/td>\n<\/tr>\n |
| 603313<\/td> | ALG10B<\/td> | Long QT syndrome, acquired, reduced susceptibility to<\/td>\n<\/tr>\n |
| 613666<\/td> | ALG11<\/td> | Congenital disorder of glycosylation, type Ip<\/td>\n<\/tr>\n |
| 607144<\/td> | ALG12<\/td> | Congenital disorder of glycosylation, type Ig<\/td>\n<\/tr>\n |
| 300776<\/td> | ALG13<\/td> | Developmental and epileptic encephalopathy 36, X-linked<\/td>\n<\/tr>\n |
| 612866<\/td> | ALG14<\/td> | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies; Myopathy, epilepsy, and progressive cerebral atrophy; Myasthenic syndrome, congenital, 15, without tubular aggregates<\/td>\n<\/tr>\n |
| 607905<\/td> | ALG2<\/td> | Congenital disorder of glycosylation, type Ii; Myasthenic syndrome, congenital, 14, with tubular aggregates<\/td>\n<\/tr>\n |
| 608750<\/td> | ALG3<\/td> | Congenital disorder of glycosylation, type Id<\/td>\n<\/tr>\n |
| 604565<\/td> | ALG5<\/td> | Polycystic kidney disease 7<\/td>\n<\/tr>\n |
| 604566<\/td> | ALG6<\/td> | Congenital disorder of glycosylation, type Ic<\/td>\n<\/tr>\n |
| 608103<\/td> | ALG8<\/td> | Congenital disorder of glycosylation, type Ih; Polycystic liver disease 3 with or without kidney cysts<\/td>\n<\/tr>\n |
| 606941<\/td> | ALG9<\/td> | Gillessen-Kaesbach-Nishimura syndrome; Congenital disorder of glycosylation, type Il<\/td>\n<\/tr>\n |
| 105590<\/td> | ALK<\/td> | Neuroblastoma, susceptibility to, 3<\/td>\n<\/tr>\n |
| 613306<\/td> | ALKBH8<\/td> | Intellectual developmental disorder 71<\/td>\n<\/tr>\n |
| 613065<\/td> | ALL1<\/td> | Leukemia, acute lymphocytic, susceptibility to, 1<\/td>\n<\/tr>\n |
| 613067<\/td> | ALL2<\/td> | Leukemia, acute lymphoblastic, susceptibility to, 2<\/td>\n<\/tr>\n |
| 606844<\/td> | ALMS1<\/td> | Alstrom syndrome<\/td>\n<\/tr>\n |
| 603741<\/td> | ALOX12B<\/td> | Ichthyosis, congenital 2<\/td>\n<\/tr>\n |
| 152390<\/td> | ALOX5<\/td> | Atherosclerosis, susceptibility to; Asthma, diminished response to antileukotriene treatment in<\/td>\n<\/tr>\n |
| 603700<\/td> | ALOX5AP<\/td> | Stroke, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 607206<\/td> | ALOXE3<\/td> | Ichthyosis, congenital 3<\/td>\n<\/tr>\n |
| 607347<\/td> | ALPK1<\/td> | ROSAH syndrome<\/td>\n<\/tr>\n |
| 617608<\/td> | ALPK3<\/td> | Cardiomyopathy, familial hypertrophic 27<\/td>\n<\/tr>\n |
| 171760<\/td> | ALPL<\/td> | Odontohypophosphatasia; Hypophosphatasia, infantile; Hypophosphatasia, childhood; Hypophosphatasia, adult<\/td>\n<\/tr>\n |
| 171720<\/td> | ALPQTL1<\/td> | Alkaline phosphatase, plasma level of, QTL1, Autosomal dominant<\/td>\n<\/tr>\n |
| 612367<\/td> | ALPQTL2<\/td> | Alkaline phosphatase, plasma level of, QTL 2<\/td>\n<\/tr>\n |
| 612368<\/td> | ALPQTL3<\/td> | Alkaline phosphatase, plasma level of, QTL3<\/td>\n<\/tr>\n |
| 612369<\/td> | ALPQTL4<\/td> | Alkaline phosphatase, plasma level of, QTL4<\/td>\n<\/tr>\n |
| 606352<\/td> | ALS2<\/td> | Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending; Amyotrophic lateral sclerosis 2, juvenile<\/td>\n<\/tr>\n |
| 606640<\/td> | ALS3<\/td> | Amyotrophic lateral sclerosis 3<\/td>\n<\/tr>\n |
| 608031<\/td> | ALS7<\/td> | Amyotrophic lateral sclerosis 7<\/td>\n<\/tr>\n |
| 601527<\/td> | ALX1<\/td> | Frontonasal dysplasia 3<\/td>\n<\/tr>\n |
| 606014<\/td> | ALX3<\/td> | Frontonasal dysplasia 1<\/td>\n<\/tr>\n |
| 605420<\/td> | ALX4<\/td> | Parietal foramina 2; Craniosynostosis 5, susceptibility to; Frontonasal dysplasia 2<\/td>\n<\/tr>\n |
| 604489<\/td> | AMACR<\/td> | Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4<\/td>\n<\/tr>\n |
| 601259<\/td> | AMBN<\/td> | Amelogenesis imperfecta, type IF<\/td>\n<\/tr>\n |
| 300391<\/td> | AMELX<\/td> | Amelogenesis imperfecta, type 1E, X-linked dominant<\/td>\n<\/tr>\n |
| 300647<\/td> | AMER1<\/td> | Osteopathia striata with cranial sclerosis, X-linked dominant<\/td>\n<\/tr>\n |
| 603243<\/td> | AMFR<\/td> | Spastic paraplegia 89<\/td>\n<\/tr>\n |
| 600957<\/td> | AMH<\/td> | Persistent Mullerian duct syndrome, type I<\/td>\n<\/tr>\n |
| 600956<\/td> | AMHR2<\/td> | Persistent Mullerian duct syndrome, type II<\/td>\n<\/tr>\n |
| 300195<\/td> | AMMECR1<\/td> | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive<\/td>\n<\/tr>\n |
| 605799<\/td> | AMN<\/td> | Imerslund-Grasbeck syndrome 2<\/td>\n<\/tr>\n |
| 102770<\/td> | AMPD1<\/td> | Myopathy due to myoadenylate deaminase deficiency<\/td>\n<\/tr>\n |
| 102771<\/td> | AMPD2<\/td> | Pontocerebellar hypoplasia, type 9; Spastic paraplegia 63<\/td>\n<\/tr>\n |
| 102772<\/td> | AMPD3<\/td> | AMP deaminase deficiency, erythrocytic<\/td>\n<\/tr>\n |
| 238310<\/td> | AMT<\/td> | Glycine encephalopathy 2<\/td>\n<\/tr>\n |
| 610912<\/td> | AMTN<\/td> | Amelogenesis imperfecta, type IIIB<\/td>\n<\/tr>\n |
| 608473<\/td> | ANAPC1<\/td> | Rothmund-Thomson syndrome, type 1<\/td>\n<\/tr>\n |
| 606949<\/td> | ANAPC7<\/td> | Ferguson-Bonni neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 606179<\/td> | ANBC<\/td> | Aneurysmal bone cysts<\/td>\n<\/tr>\n |
| 105580<\/td> | ANC<\/td> | Anal canal carcinoma<\/td>\n<\/tr>\n |
| 105850<\/td> | ANG<\/td> | Amyotrophic lateral sclerosis 9<\/td>\n<\/tr>\n |
| 601667<\/td> | ANGPT1<\/td> | Angioedema, hereditary, 5<\/td>\n<\/tr>\n |
| 601922<\/td> | ANGPT2<\/td> | Lymphatic malformation 10<\/td>\n<\/tr>\n |
| 604774<\/td> | ANGPTL3<\/td> | Hypobetalipoproteinemia, familial, 2<\/td>\n<\/tr>\n |
| 605910<\/td> | ANGPTL4<\/td> | Plasma triglyceride level QTL, low<\/td>\n<\/tr>\n |
| 105800<\/td> | ANIB1<\/td> | Aneurysm, intracranial berry, 1<\/td>\n<\/tr>\n |
| 612587<\/td> | ANIB10<\/td> | Aneurysm, intracranial berry, 10<\/td>\n<\/tr>\n |
| 614252<\/td> | ANIB11<\/td> | Aneurysm, intracranial berry, 11<\/td>\n<\/tr>\n |
| 608542<\/td> | ANIB2<\/td> | Aneurysm, intracranial berry, 2<\/td>\n<\/tr>\n |
| 609122<\/td> | ANIB3<\/td> | Aneurysm, intracranial berry, 3<\/td>\n<\/tr>\n |
| 610213<\/td> | ANIB4<\/td> | Aneurysm, intracranial berry, 4<\/td>\n<\/tr>\n |
| 300870<\/td> | ANIB5<\/td> | Aneurysm, intracranial berry, 5<\/td>\n<\/tr>\n |
| 611892<\/td> | ANIB6<\/td> | Aneurysm, intracranial berry, 6<\/td>\n<\/tr>\n |
| 612161<\/td> | ANIB7<\/td> | Aneurysm, intracranial berry, 7<\/td>\n<\/tr>\n |
| 612162<\/td> | ANIB8<\/td> | Aneurysm, intracranial berry, 8<\/td>\n<\/tr>\n |
| 612586<\/td> | ANIB9<\/td> | Aneurysm, intracranial berry, 9<\/td>\n<\/tr>\n |
| 107200<\/td> | ANIC<\/td> | Anosmia, isolated congenital<\/td>\n<\/tr>\n |
| 612641<\/td> | ANK1<\/td> | Spherocytosis, type 1<\/td>\n<\/tr>\n |
| 106410<\/td> | ANK2<\/td> | Long QT syndrome 4; Cardiac arrhythmia, ankyrin-B-related<\/td>\n<\/tr>\n |
| 600465<\/td> | ANK3<\/td> | Intellectual developmental disorder 37<\/td>\n<\/tr>\n |
| 605145<\/td> | ANKH<\/td> | Chondrocalcinosis 2; Craniometaphyseal dysplasia<\/td>\n<\/tr>\n |
| 616062<\/td> | ANKLE2<\/td> | Microcephaly 16, primary<\/td>\n<\/tr>\n |
| 611192<\/td> | ANKRD11<\/td> | KBG syndrome<\/td>\n<\/tr>\n |
| 615929<\/td> | ANKRD17<\/td> | Chopra-Amiel-Gordon syndrome<\/td>\n<\/tr>\n |
| 610855<\/td> | ANKRD26<\/td> | Thrombocytopenia 2<\/td>\n<\/tr>\n |
| 615370<\/td> | ANKS6<\/td> | Nephronophthisis 16<\/td>\n<\/tr>\n |
| 616027<\/td> | ANLN<\/td> | Focal segmental glomerulosclerosis 8<\/td>\n<\/tr>\n |
| 605746<\/td> | ANMA<\/td> | Anisomastia<\/td>\n<\/tr>\n |
| 610108<\/td> | ANO1<\/td> | Moyamoya disease 7; Intestinal dysmotility syndrome<\/td>\n<\/tr>\n |
| 613726<\/td> | ANO10<\/td> | Spinocerebellar ataxia 10<\/td>\n<\/tr>\n |
| 610110<\/td> | ANO3<\/td> | Dystonia 24<\/td>\n<\/tr>\n |
| 608662<\/td> | ANO5<\/td> | Muscular dystrophy, limb-girdle 12; Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia<\/td>\n<\/tr>\n |
| 608663<\/td> | ANO6<\/td> | Scott syndrome<\/td>\n<\/tr>\n |
| 606788<\/td> | ANON1<\/td> | Anorexia nervosa, susceptibility to, 1<\/td>\n<\/tr>\n |
| 300836<\/td> | ANOS1<\/td> | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive<\/td>\n<\/tr>\n |
| 606410<\/td> | ANTXR1<\/td> | GAPO syndrome; Hemangioma, capillary infantile, susceptibility to<\/td>\n<\/tr>\n |
| 608041<\/td> | ANTXR2<\/td> | Hyaline fibromatosis syndrome<\/td>\n<\/tr>\n |
| 602572<\/td> | ANXA11<\/td> | Amyotrophic lateral sclerosis 23; Inclusion body myopathy and brain white matter abnormalities<\/td>\n<\/tr>\n |
| 131230<\/td> | ANXA5<\/td> | Pregnancy loss, recurrent, susceptibility to, 3<\/td>\n<\/tr>\n |
| 606049<\/td> | AOCH<\/td> | Acromegaloid features, overgrowth, cleft palate, and hernia<\/td>\n<\/tr>\n |
| 605552<\/td> | AOMS1<\/td> | Abdominal obesity-metabolic syndrome 1<\/td>\n<\/tr>\n |
| 605572<\/td> | AOMS2<\/td> | Abdominal obesity-metabolic syndrome<\/td>\n<\/tr>\n |
| 619600<\/td> | AOPEP<\/td> | Dystonia 31<\/td>\n<\/tr>\n |
| 600157<\/td> | AP1B1<\/td> | Keratitis-ichthyosis-deafness syndrome<\/td>\n<\/tr>\n |
| 603533<\/td> | AP1G1<\/td> | Usmani-Riazuddin syndrome; Usmani-Riazuddin syndrome<\/td>\n<\/tr>\n |
| 603531<\/td> | AP1S1<\/td> | MEDNIK syndrome<\/td>\n<\/tr>\n |
| 300629<\/td> | AP1S2<\/td> | Pettigrew syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 615781<\/td> | AP1S3<\/td> | Psoriasis 15, pustular, susceptibility to<\/td>\n<\/tr>\n |
| 601024<\/td> | AP2M1<\/td> | Intellectual developmental disorder 60 with seizures<\/td>\n<\/tr>\n |
| 602242<\/td> | AP2S1<\/td> | Hypocalciuric hypercalcemia, type III<\/td>\n<\/tr>\n |
| 603401<\/td> | AP3B1<\/td> | Hermansky-Pudlak syndrome 2<\/td>\n<\/tr>\n |
| 602166<\/td> | AP3B2<\/td> | Developmental and epileptic encephalopathy 48<\/td>\n<\/tr>\n |
| 607246<\/td> | AP3D1<\/td> | Hermansky-Pudlak syndrome 10<\/td>\n<\/tr>\n |
| 607245<\/td> | AP4B1<\/td> | Spastic paraplegia 47<\/td>\n<\/tr>\n |
| 607244<\/td> | AP4E1<\/td> | Stuttering, familial persistent, 1; Spastic paraplegia 51<\/td>\n<\/tr>\n |
| 602296<\/td> | AP4M1<\/td> | Spastic paraplegia 50<\/td>\n<\/tr>\n |
| 607243<\/td> | AP4S1<\/td> | Spastic paraplegia 52<\/td>\n<\/tr>\n |
| 613653<\/td> | AP5Z1<\/td> | Spastic paraplegia 48<\/td>\n<\/tr>\n |
| 611731<\/td> | APC<\/td> | Colorectal cancer, somatic; Brain tumor-polyposis syndrome 2; Desmoid disease, hereditary; Adenoma, periampullary, somatic; Hepatoblastoma, somatic; Gastric cancer, somatic; Gastric adenocarcinoma and proximal polyposis of the stomach; Gardner syndrome; Adenomatous polyposis coli<\/td>\n<\/tr>\n |
| 612034<\/td> | APC2<\/td> | Cortical dysplasia, complex, with other brain malformations 10; Intellectual developmental disorder 74<\/td>\n<\/tr>\n |
| 607479<\/td> | APCDD1<\/td> | Hypotrichosis 1<\/td>\n<\/tr>\n |
| 610422<\/td> | APMR2<\/td> | Alopecia-intellectual disability syndrome 2<\/td>\n<\/tr>\n |
| 613930<\/td> | APMR3<\/td> | Alopecia-intellectual disability syndrome 3<\/td>\n<\/tr>\n |
| 107680<\/td> | APOA1<\/td> | Hypoalphalipoproteinemia, primary, 2; Amyloidosis, hereditary systemic 3; Hypoalphalipoproteinemia, primary, 2, intermediate<\/td>\n<\/tr>\n |
| 107670<\/td> | APOA2<\/td> | Apolipoprotein A-II deficiency; Hypercholesterolemia, familial, modifier of<\/td>\n<\/tr>\n |
| 606368<\/td> | APOA5<\/td> | Hyperchylomicronemia, late-onset; Hypertriglyceridemia, susceptibility to<\/td>\n<\/tr>\n |
| 107730<\/td> | APOB<\/td> | Hypercholesterolemia, familial, 2; Hypobetalipoproteinemia<\/td>\n<\/tr>\n |
| 608083<\/td> | APOC2<\/td> | Hyperlipoproteinemia, type Ib<\/td>\n<\/tr>\n |
| 107720<\/td> | APOC3<\/td> | Apolipoprotein C-III deficiency<\/td>\n<\/tr>\n |
| 107741<\/td> | APOE<\/td> | Alzheimer disease 2; Sea-blue histiocyte disease; Alzheimer disease, protection against, due to APOE3-Christchurch; Coronary artery disease, severe, susceptibility to; Lipoprotein glomerulopathy; Macular degeneration, age-related; Hyperlipoproteinemia, type III<\/td>\n<\/tr>\n |
| 603743<\/td> | APOL1<\/td> | Glomerulosclerosis, focal segmental, 4, susceptibility to<\/td>\n<\/tr>\n |
| 607252<\/td> | APOL2<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 607254<\/td> | APOL4<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 612456<\/td> | APOLD1<\/td> | Bleeding disorder, vascular-type<\/td>\n<\/tr>\n |
| 104760<\/td> | APP<\/td> | Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; Alzheimer disease 1, familial<\/td>\n<\/tr>\n |
| 604299<\/td> | APPL1<\/td> | Maturity-onset diabetes of the young, type 14<\/td>\n<\/tr>\n |
| 102600<\/td> | APRT<\/td> | Adenine phosphoribosyltransferase deficiency<\/td>\n<\/tr>\n |
| 606350<\/td> | APTX<\/td> | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia<\/td>\n<\/tr>\n |
| 107776<\/td> | AQP1<\/td> | Aquaporin-1 deficiency; Blood group, Colton<\/td>\n<\/tr>\n |
| 107777<\/td> | AQP2<\/td> | Diabetes insipidus, nephrogenic, 2<\/td>\n<\/tr>\n |
| 600170<\/td> | AQP3<\/td> | Blood group GIL<\/td>\n<\/tr>\n |
| 600308<\/td> | AQP4<\/td> | Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting<\/td>\n<\/tr>\n |
| 600442<\/td> | AQP5<\/td> | Palmoplantar keratoderma, Bothnian type<\/td>\n<\/tr>\n |
| 602974<\/td> | AQP7<\/td> | Glycerol quantitative trait locus<\/td>\n<\/tr>\n |
| 313700<\/td> | AR<\/td> | Androgen insensitivity, partial, with or without breast cancer, X-linked recessive; Spinal and bulbar muscular atrophy, X-linked 1, X-linked recessive; Prostate cancer, susceptibility to, X-linked; Androgen insensitivity, X-linked recessive; Hypospadias 1, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 615022<\/td> | ARCI7<\/td> | Ichthyosis, congenital 7<\/td>\n<\/tr>\n |
| 600820<\/td> | ARCN1<\/td> | Short stature-micrognathia syndrome<\/td>\n<\/tr>\n |
| 103180<\/td> | ARF1<\/td> | Periventricular nodular heterotopia 8<\/td>\n<\/tr>\n |
| 604141<\/td> | ARFGEF1<\/td> | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures<\/td>\n<\/tr>\n |
| 605371<\/td> | ARFGEF2<\/td> | Periventricular heterotopia with microcephaly<\/td>\n<\/tr>\n |
| 608313<\/td> | ARG1<\/td> | Argininemia<\/td>\n<\/tr>\n |
| 605370<\/td> | ARHGAP26<\/td> | Leukemia, juvenile myelomonocytic, somatic<\/td>\n<\/tr>\n |
| 610911<\/td> | ARHGAP31<\/td> | Adams-Oliver syndrome 1<\/td>\n<\/tr>\n |
| 601925<\/td> | ARHGDIA<\/td> | Nephrotic syndrome, type 8<\/td>\n<\/tr>\n |
| 601855<\/td> | ARHGEF1<\/td> | Immunodeficiency 62<\/td>\n<\/tr>\n |
| 608136<\/td> | ARHGEF10<\/td> | Slowed nerve conduction velocity, AD<\/td>\n<\/tr>\n |
| 616432<\/td> | ARHGEF18<\/td> | Retinitis pigmentosa 78<\/td>\n<\/tr>\n |
| 607560<\/td> | ARHGEF2<\/td> | Neurodevelopmental disorder with midbrain and hindbrain malformations<\/td>\n<\/tr>\n |
| 300429<\/td> | ARHGEF9<\/td> | Developmental and epileptic encephalopathy 8, X-linked<\/td>\n<\/tr>\n |
| 612448<\/td> | ARHI1<\/td> | Age-related hearing impairment 1<\/td>\n<\/tr>\n |
| 612976<\/td> | ARHI2<\/td> | Age-related hearing impairment 2<\/td>\n<\/tr>\n |
| 603024<\/td> | ARID1A<\/td> | Coffin-Siris syndrome 2<\/td>\n<\/tr>\n |
| 614556<\/td> | ARID1B<\/td> | Coffin-Siris syndrome 1<\/td>\n<\/tr>\n |
| 609539<\/td> | ARID2<\/td> | Coffin-Siris syndrome 6<\/td>\n<\/tr>\n |
| 608922<\/td> | ARL13B<\/td> | Joubert syndrome 8<\/td>\n<\/tr>\n |
| 601175<\/td> | ARL2<\/td> | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1<\/td>\n<\/tr>\n |
| 615407<\/td> | ARL2BP<\/td> | Retinitis pigmentosa 82 with or without situs inversus<\/td>\n<\/tr>\n |
| 604695<\/td> | ARL3<\/td> | Retinitis pigmentosa 83; Joubert syndrome 35<\/td>\n<\/tr>\n |
| 608845<\/td> | ARL6<\/td> | Retinitis pigmentosa 55; Bardet-Biedl syndrome 1, modifier of, Digenic recessive; Bardet-Biedl syndrome 3<\/td>\n<\/tr>\n |
| 607669<\/td> | ARL6IP1<\/td> | Spastic paraplegia 61<\/td>\n<\/tr>\n |
| 620377<\/td> | ARMC12<\/td> | Spermatogenic failure 90<\/td>\n<\/tr>\n |
| 618424<\/td> | ARMC2<\/td> | Spermatogenic failure 38<\/td>\n<\/tr>\n |
| 615549<\/td> | ARMC5<\/td> | ACTH-independent macronodular adrenal hyperplasia 2, Somatic mutation<\/td>\n<\/tr>\n |
| 617612<\/td> | ARMC9<\/td> | Joubert syndrome 30<\/td>\n<\/tr>\n |
| 611313<\/td> | ARMS2<\/td> | Macular degeneration, age-related, 8<\/td>\n<\/tr>\n |
| 606036<\/td> | ARNT2<\/td> | Webb-Dattani syndrome<\/td>\n<\/tr>\n |
| 604223<\/td> | ARPC1B<\/td> | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia<\/td>\n<\/tr>\n |
| 604226<\/td> | ARPC4<\/td> | Developmental delay, language impairment, and ocular abnormalities<\/td>\n<\/tr>\n |
| 604227<\/td> | ARPC5<\/td> | Immunodeficiency 133 with autoimmunity and autoinflammation<\/td>\n<\/tr>\n |
| 301770<\/td> | ARR3<\/td> | Myopia 26, X-linked, female-limited, X-linked<\/td>\n<\/tr>\n |
| 607574<\/td> | ARSA<\/td> | Metachromatic leukodystrophy<\/td>\n<\/tr>\n |
| 611542<\/td> | ARSB<\/td> | Mucopolysaccharidosis type VI (Maroteaux-Lamy)<\/td>\n<\/tr>\n |
| 610008<\/td> | ARSG<\/td> | Usher syndrome, type IV<\/td>\n<\/tr>\n |
| 610011<\/td> | ARSK<\/td> | Mucopolysaccharidosis, type X<\/td>\n<\/tr>\n |
| 300180<\/td> | ARSL<\/td> | Chondrodysplasia punctata, X-linked recessive, X-linked recessive<\/td>\n<\/tr>\n |
| 110600<\/td> | ART4<\/td> | Blood group, Dombrock<\/td>\n<\/tr>\n |
| 611647<\/td> | ARV1<\/td> | Developmental and epileptic encephalopathy 38<\/td>\n<\/tr>\n |
| 602086<\/td> | ARVD3<\/td> | Arrhythmogenic right ventricular dysplasia 3<\/td>\n<\/tr>\n |
| 602087<\/td> | ARVD4<\/td> | Arrhythmogenic right ventricular dysplasia 4<\/td>\n<\/tr>\n |
| 604401<\/td> | ARVD6<\/td> | Arrhythmogenic right ventricular dysplasia 6<\/td>\n<\/tr>\n |
| 300382<\/td> | ARX<\/td> | Proud syndrome, X-linked; Hydranencephaly with abnormal genitalia, X-linked; Partington syndrome, X-linked recessive; Developmental and epileptic encephalopathy 1, X-linked recessive; Lissencephaly, X-linked 2, X-linked; Intellectual developmental disorder, X-linked 29, X-linked recessive<\/td>\n<\/tr>\n |
| 613468<\/td> | ASAH1<\/td> | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis<\/td>\n<\/tr>\n |
| 615054<\/td> | ASB10<\/td> | Glaucoma 1, open angle, F<\/td>\n<\/tr>\n |
| 614215<\/td> | ASCC1<\/td> | Spinal muscular atrophy with congenital bone fractures 2; Barrett esophagus\/esophageal adenocarcinoma<\/td>\n<\/tr>\n |
| 614217<\/td> | ASCC3<\/td> | Intellectual developmental disorder 81<\/td>\n<\/tr>\n |
| 108800<\/td> | ASD1<\/td> | Atrial septal defect 1<\/td>\n<\/tr>\n |
| 607999<\/td> | ASH1L<\/td> | Intellectual developmental disorder 52<\/td>\n<\/tr>\n |
| 600201<\/td> | ASIP<\/td> | Skin\/hair\/eye pigmentation 9, brown\/nonbrown eyes; Skin\/hair\/eye pigmentation 9, dark\/light hair<\/td>\n<\/tr>\n |
| 608310<\/td> | ASL<\/td> | Argininosuccinic aciduria<\/td>\n<\/tr>\n |
| 108370<\/td> | ASNS<\/td> | Asparagine synthetase deficiency<\/td>\n<\/tr>\n |
| 608034<\/td> | ASPA<\/td> | Canavan disease<\/td>\n<\/tr>\n |
| 608638<\/td> | ASPG1<\/td> | Asperger syndrome susceptibility 1, Multifactorial, Isolated cases<\/td>\n<\/tr>\n |
| 608631<\/td> | ASPG2<\/td> | Asperger syndrome susceptibility 2, Multifactorial, Isolated cases<\/td>\n<\/tr>\n |
| 608781<\/td> | ASPG3<\/td> | Asperger syndrome susceptibility 3<\/td>\n<\/tr>\n |
| 609954<\/td> | ASPG4<\/td> | Asperger syndrome susceptibility 4<\/td>\n<\/tr>\n |
| 600582<\/td> | ASPH<\/td> | Traboulsi syndrome<\/td>\n<\/tr>\n |
| 605481<\/td> | ASPM<\/td> | Microcephaly 5, primary<\/td>\n<\/tr>\n |
| 608135<\/td> | ASPN<\/td> | Lumbar disc degeneration; Osteoarthritis susceptibility 3<\/td>\n<\/tr>\n |
| 611765<\/td> | ASPRV1<\/td> | Ichthyosis, lamellar<\/td>\n<\/tr>\n |
| 606236<\/td> | ASPSCR1<\/td> | Alveolar soft-part sarcoma<\/td>\n<\/tr>\n |
| 609958<\/td> | ASRT3<\/td> | Asthma-related traits, susceptibility to, 3<\/td>\n<\/tr>\n |
| 610906<\/td> | ASRT4<\/td> | Asthma-related traits, susceptibility to, 4<\/td>\n<\/tr>\n |
| 611403<\/td> | ASRT6<\/td> | Asthma-related traits, susceptibility to, 6<\/td>\n<\/tr>\n |
| 613207<\/td> | ASRT8<\/td> | Asthma-related traits, susceptibility to, 8<\/td>\n<\/tr>\n |
| 603470<\/td> | ASS1<\/td> | Citrullinemia<\/td>\n<\/tr>\n |
| 608860<\/td> | ASTL<\/td> | Oocyte\/zygote\/embryo maturation arrest 11<\/td>\n<\/tr>\n |
| 612990<\/td> | ASXL1<\/td> | Myelodysplastic syndrome, somatic; Bohring-Opitz syndrome<\/td>\n<\/tr>\n |
| 612991<\/td> | ASXL2<\/td> | Shashi-Pena syndrome<\/td>\n<\/tr>\n |
| 615115<\/td> | ASXL3<\/td> | Bainbridge-Ropers syndrome<\/td>\n<\/tr>\n |
| 614452<\/td> | ATAD1<\/td> | Hyperekplexia 4<\/td>\n<\/tr>\n |
| 612316<\/td> | ATAD3A<\/td> | Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal<\/td>\n<\/tr>\n |
| 608179<\/td> | ATCAY<\/td> | Ataxia, cerebellar, Cayman type<\/td>\n<\/tr>\n |
| 208500<\/td> | ATD<\/td> | Short-rib thoracic dysplasia 1 with or without polydactyly<\/td>\n<\/tr>\n |
| 605537<\/td> | ATF6<\/td> | Achromatopsia 7<\/td>\n<\/tr>\n |
| 608583<\/td> | ATFB1<\/td> | Atrial fibrillation, familial, 1<\/td>\n<\/tr>\n |
| 608988<\/td> | ATFB2<\/td> | Atrial fibrillation, familial, 2<\/td>\n<\/tr>\n |
| 611494<\/td> | ATFB5<\/td> | Atrial fibrillation, familial, 5<\/td>\n<\/tr>\n |
| 610767<\/td> | ATG16L1<\/td> | Inflammatory bowel disease (Crohn disease) 10<\/td>\n<\/tr>\n |
| 604261<\/td> | ATG5<\/td> | Spinocerebellar ataxia 25<\/td>\n<\/tr>\n |
| 608760<\/td> | ATG7<\/td> | Spinocerebellar ataxia 31<\/td>\n<\/tr>\n |
| 108725<\/td> | ATHS<\/td> | Atherosclerosis, susceptibility to<\/td>\n<\/tr>\n |
| 601731<\/td> | ATIC<\/td> | AICA-ribosiduria due to ATIC deficiency<\/td>\n<\/tr>\n |
| 606439<\/td> | ATL1<\/td> | Spastic paraplegia 3A; Neuropathy, hereditary sensory, type ID<\/td>\n<\/tr>\n |
| 609369<\/td> | ATL3<\/td> | Neuropathy, hereditary sensory, type IF<\/td>\n<\/tr>\n |
| 607585<\/td> | ATM<\/td> | Lymphoma, B-cell non-Hodgkin, somatic; Ataxia-telangiectasia; Breast cancer, susceptibility to, Somatic mutation; T-cell prolymphocytic leukemia, somatic; Lymphoma, mantle cell, somatic<\/td>\n<\/tr>\n |
| 607462<\/td> | ATN1<\/td> | Dentatorubral-pallidoluysian atrophy; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies<\/td>\n<\/tr>\n |
| 603165<\/td> | ATOD1<\/td> | Dermatitis, atopic, susceptibility to, 1<\/td>\n<\/tr>\n |
| 605804<\/td> | ATOD3<\/td> | Dermatitis, atopic, susceptibility to, 3<\/td>\n<\/tr>\n |
| 605844<\/td> | ATOD5<\/td> | Dermatitis, atopic, susceptibility to, 5<\/td>\n<\/tr>\n |
| 605845<\/td> | ATOD6<\/td> | Dermatitis, atopic, susceptibility to, 6<\/td>\n<\/tr>\n |
| 613064<\/td> | ATOD7<\/td> | Dermatitis, atopic, susceptibility to, 7<\/td>\n<\/tr>\n |
| 613518<\/td> | ATOD8<\/td> | Dermatitis, atopic, susceptibility to, 8<\/td>\n<\/tr>\n |
| 613519<\/td> | ATOD9<\/td> | Dermatitis, atopic, susceptibility to, 9<\/td>\n<\/tr>\n |
| 601461<\/td> | ATOH1<\/td> | Deafness 89<\/td>\n<\/tr>\n |
| 609875<\/td> | ATOH7<\/td> | Persistent hyperplastic primary vitreous<\/td>\n<\/tr>\n |
| 605868<\/td> | ATP11A<\/td> | Auditory neuropathy 2; Leukodystrophy, hypomyelinating, 24; Deafness 84<\/td>\n<\/tr>\n |
| 300516<\/td> | ATP11C<\/td> | Hemolytic anemia, congenital, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 610513<\/td> | ATP13A2<\/td> | Spastic paraplegia 78; Kufor-Rakeb syndrome<\/td>\n<\/tr>\n |
| 610232<\/td> | ATP13A3<\/td> | Pulmonary hypertension, primary, 5<\/td>\n<\/tr>\n |
| 182310<\/td> | ATP1A1<\/td> | Hypomagnesemia, seizures, and impaired intellectual development 2; Charcot-Marie-Tooth disease, axonal, type 2DD<\/td>\n<\/tr>\n |
| 182340<\/td> | ATP1A2<\/td> | Developmental and epileptic encephalopathy 98; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Alternating hemiplegia of childhood 1; Migraine, familial basilar; Migraine, familial hemiplegic, 2<\/td>\n<\/tr>\n |
| 182350<\/td> | ATP1A3<\/td> | Alternating hemiplegia of childhood 2; Dystonia-12; CAPOS syndrome; Developmental and epileptic encephalopathy 99<\/td>\n<\/tr>\n |
| 182330<\/td> | ATP1B1<\/td> | Blood pressure regulation QTL, Multifactorial<\/td>\n<\/tr>\n |
| 108730<\/td> | ATP2A1<\/td> | Brody myopathy<\/td>\n<\/tr>\n |
| 108740<\/td> | ATP2A2<\/td> | Acrokeratosis verruciformis; Darier disease<\/td>\n<\/tr>\n |
| 108731<\/td> | ATP2B1<\/td> | Intellectual developmental disorder 66<\/td>\n<\/tr>\n |
| 108733<\/td> | ATP2B2<\/td> | Deafness 82; Deafness 12, modifier of<\/td>\n<\/tr>\n |
| 300014<\/td> | ATP2B3<\/td> | Spinocerebellar ataxia, X-linked 1, X-linked recessive<\/td>\n<\/tr>\n |
| 604384<\/td> | ATP2C1<\/td> | Hailey-Hailey disease<\/td>\n<\/tr>\n |
| 164360<\/td> | ATP5F1A<\/td> | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A; Combined oxidative phosphorylation deficiency 22; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type<\/td>\n<\/tr>\n |
| 102910<\/td> | ATP5F1B<\/td> | Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2<\/td>\n<\/tr>\n |
| 603150<\/td> | ATP5F1D<\/td> | Mitochondrial complex V (ATP synthase) deficiency<\/td>\n<\/tr>\n |
| 606153<\/td> | ATP5F1E<\/td> | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3<\/td>\n<\/tr>\n |
| 602736<\/td> | ATP5MC3<\/td> | Dystonia, early-onset, and\/or spastic paraplegia<\/td>\n<\/tr>\n |
| 615204<\/td> | ATP5MK<\/td> | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6<\/td>\n<\/tr>\n |
| 600828<\/td> | ATP5PO<\/td> | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7<\/td>\n<\/tr>\n |
| 300197<\/td> | ATP6AP1<\/td> | Immunodeficiency 47, X-linked recessive<\/td>\n<\/tr>\n |
| 300556<\/td> | ATP6AP2<\/td> | Intellectual developmental disorder, X-linked syndromic, Hedera type, X-linked recessive; Parkinsonism with spasticity, X-linked, X-linked recessive; Congenital disorder of glycosylation, type IIr, X-linked recessive<\/td>\n<\/tr>\n |
| 192130<\/td> | ATP6V0A1<\/td> | Neurodevelopmental disorder with epilepsy and brain atrophy; Developmental and epileptic encephalopathy 104<\/td>\n<\/tr>\n |
| 611716<\/td> | ATP6V0A2<\/td> | Wrinkly skin syndrome; Cutis laxa, type IIA<\/td>\n<\/tr>\n |
| 605239<\/td> | ATP6V0A4<\/td> | Distal renal tubular acidosis 3, with or without sensorineural hearing loss<\/td>\n<\/tr>\n |
| 108745<\/td> | ATP6V0C<\/td> | Epilepsy, early-onset, 3, with or without developmental delay<\/td>\n<\/tr>\n |
| 607027<\/td> | ATP6V1A<\/td> | Cutis laxa, type IID; Developmental and epileptic encephalopathy 93<\/td>\n<\/tr>\n |
| 192132<\/td> | ATP6V1B1<\/td> | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss<\/td>\n<\/tr>\n |
| 606939<\/td> | ATP6V1B2<\/td> | Zimmermann-Laband syndrome 2; Deafness, congenital, with onychodystrophy<\/td>\n<\/tr>\n |
| 108746<\/td> | ATP6V1E1<\/td> | Cutis laxa, type IIC<\/td>\n<\/tr>\n |
| 300011<\/td> | ATP7A<\/td> | Occipital horn syndrome, X-linked recessive; Neuronopathy, distal hereditary motor, X-linked, X-linked recessive; Menkes disease, X-linked recessive<\/td>\n<\/tr>\n |
| 606882<\/td> | ATP7B<\/td> | Wilson disease<\/td>\n<\/tr>\n |
| 605870<\/td> | ATP8A2<\/td> | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4<\/td>\n<\/tr>\n |
| 602397<\/td> | ATP8B1<\/td> | Cholestasis, progressive familial intrahepatic 1; Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, benign recurrent intrahepatic<\/td>\n<\/tr>\n |
| 609126<\/td> | ATP9A<\/td> | Neurodevelopmental disorder with poor growth and behavioral abnormalities<\/td>\n<\/tr>\n |
| 608918<\/td> | ATPAF2<\/td> | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1<\/td>\n<\/tr>\n |
| 107320<\/td> | ATPLS<\/td> | Antiphospholipid syndrome, familial<\/td>\n<\/tr>\n |
| 601215<\/td> | ATR<\/td> | Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial<\/td>\n<\/tr>\n |
| 300032<\/td> | ATRX<\/td> | Alpha-thalassemia myelodysplasia syndrome, somatic; Intellectual disability-hypotonic facies syndrome, X-linked, X-linked recessive; Alpha-thalassemia\/impaired intellectual development syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 601556<\/td> | ATXN1<\/td> | Spinocerebellar ataxia 1<\/td>\n<\/tr>\n |
| 611150<\/td> | ATXN10<\/td> | Spinocerebellar ataxia 10<\/td>\n<\/tr>\n |
| 601517<\/td> | ATXN2<\/td> | Amyotrophic lateral sclerosis, susceptibility to, 13; Spinocerebellar ataxia 2; Parkinson disease, late-onset, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 607047<\/td> | ATXN3<\/td> | Parkinson disease, late-onset, susceptibility to, Multifactorial; Machado-Joseph disease<\/td>\n<\/tr>\n |
| 607640<\/td> | ATXN7<\/td> | Spinocerebellar ataxia 7<\/td>\n<\/tr>\n |
| 613289<\/td> | ATXN8<\/td> | Spinocerebellar ataxia 8<\/td>\n<\/tr>\n |
| 603680<\/td> | ATXN8OS<\/td> | Parkinson disease, susceptibility to, Multifactorial; Spinocerebellar ataxia 8<\/td>\n<\/tr>\n |
| 600529<\/td> | AUH<\/td> | 3-methylglutaconic aciduria, type I<\/td>\n<\/tr>\n |
| 603072<\/td> | AURKA<\/td> | Colon cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 603495<\/td> | AURKC<\/td> | Spermatogenic failure 5<\/td>\n<\/tr>\n |
| 209850<\/td> | AUTS1<\/td> | Autism susceptibility 1, Multifactorial, Isolated cases<\/td>\n<\/tr>\n |
| 610836<\/td> | AUTS11<\/td> | Autism susceptibility 11<\/td>\n<\/tr>\n |
| 610838<\/td> | AUTS12<\/td> | Autism susceptibility 12<\/td>\n<\/tr>\n |
| 610908<\/td> | AUTS13<\/td> | Autism susceptibility 13<\/td>\n<\/tr>\n |
| 607270<\/td> | AUTS2<\/td> | Intellectual developmental disorder 26<\/td>\n<\/tr>\n |
| 608049<\/td> | AUTS3<\/td> | Autism susceptibility 3, Multifactorial, Isolated cases<\/td>\n<\/tr>\n |
| 609378<\/td> | AUTS6<\/td> | Autism susceptibility 6<\/td>\n<\/tr>\n |
| 610676<\/td> | AUTS7<\/td> | Autism susceptibility 7<\/td>\n<\/tr>\n |
| 607373<\/td> | AUTS8<\/td> | Autism susceptibility 8, Multifactorial, Isolated cases<\/td>\n<\/tr>\n |
| 613397<\/td> | AVIL<\/td> | Nephrotic syndrome, type 21<\/td>\n<\/tr>\n |
| 192340<\/td> | AVP<\/td> | Diabetes insipidus, neurohypophyseal<\/td>\n<\/tr>\n |
| 300538<\/td> | AVPR2<\/td> | Diabetes insipidus, nephrogenic, 1, X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive<\/td>\n<\/tr>\n |
| 606215<\/td> | AVSD1<\/td> | Atrioventricular septal defect, susceptibility to, 1<\/td>\n<\/tr>\n |
| 603816<\/td> | AXIN1<\/td> | Hepatocellular carcinoma, somatic; Craniometadiaphyseal osteosclerosis with hip dysplasia; Caudal duplication anomaly<\/td>\n<\/tr>\n |
| 604025<\/td> | AXIN2<\/td> | Colorectal cancer, somatic; Oligodontia-colorectal cancer syndrome<\/td>\n<\/tr>\n |
| 109700<\/td> | B2M<\/td> | Amyloidosis, hereditary systemic 6; Immunodeficiency 43<\/td>\n<\/tr>\n |
| 603094<\/td> | B3GALNT1<\/td> | Blood group, P1PK system, P(k) phenotype; Blood group, globoside system<\/td>\n<\/tr>\n |
| 610194<\/td> | B3GALNT2<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11<\/td>\n<\/tr>\n |
| 615291<\/td> | B3GALT6<\/td> | Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Al-Gazali syndrome<\/td>\n<\/tr>\n |
| 606374<\/td> | B3GAT3<\/td> | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects<\/td>\n<\/tr>\n |
| 610308<\/td> | B3GLCT<\/td> | Peters-plus syndrome<\/td>\n<\/tr>\n |
| 601873<\/td> | B4GALNT1<\/td> | Spastic paraplegia 26<\/td>\n<\/tr>\n |
| 111730<\/td> | B4GALNT2<\/td> | Blood group, Sid system; Sd(a) polyagglutination syndrome<\/td>\n<\/tr>\n |
| 137060<\/td> | B4GALT1<\/td> | Combined low LDL and fibrinogen; Congenital disorder of glycosylation, type IId<\/td>\n<\/tr>\n |
| 604327<\/td> | B4GALT7<\/td> | Ehlers-Danlos syndrome, spondylodysplastic type, 1<\/td>\n<\/tr>\n |
| 605517<\/td> | B4GAT1<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13<\/td>\n<\/tr>\n |
| 612957<\/td> | B6QTL1<\/td> | Vitamin B6 plasma level QTL 1<\/td>\n<\/tr>\n |
| 614144<\/td> | B9D1<\/td> | Meckel syndrome 9; Joubert syndrome 27<\/td>\n<\/tr>\n |
| 611951<\/td> | B9D2<\/td> | Meckel syndrome 10; Joubert syndrome 34<\/td>\n<\/tr>\n |
| 602938<\/td> | BAAT<\/td> | Bile acid conjugation defect 1<\/td>\n<\/tr>\n |
| 605394<\/td> | BACH2<\/td> | Immunodeficiency 60 and autoimmunity<\/td>\n<\/tr>\n |
| 603883<\/td> | BAG3<\/td> | Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6<\/td>\n<\/tr>\n |
| 603885<\/td> | BAG5<\/td> | Cardiomyopathy, dilated, 2F<\/td>\n<\/tr>\n |
| 603811<\/td> | BANF1<\/td> | Nestor-Guillermo progeria syndrome<\/td>\n<\/tr>\n |
| 603089<\/td> | BAP1<\/td> | Kury-Isidor syndrome; Tumor predisposition syndrome 1; Uveal melanoma, susceptibility to, 2<\/td>\n<\/tr>\n |
| 601593<\/td> | BARD1<\/td> | Breast cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 600040<\/td> | BAX<\/td> | Colorectal cancer, somatic; T-cell acute lymphoblastic leukemia, somatic<\/td>\n<\/tr>\n |
| 613605<\/td> | BBIP1<\/td> | Bardet-Biedl syndrome 18<\/td>\n<\/tr>\n |
| 209901<\/td> | BBS1<\/td> | Bardet-Biedl syndrome 1, Digenic recessive<\/td>\n<\/tr>\n |
| 610148<\/td> | BBS10<\/td> | Bardet-Biedl syndrome 10<\/td>\n<\/tr>\n |
| 610683<\/td> | BBS12<\/td> | Bardet-Biedl syndrome 12<\/td>\n<\/tr>\n |
| 606151<\/td> | BBS2<\/td> | Retinitis pigmentosa 74; Bardet-Biedl syndrome 2<\/td>\n<\/tr>\n |
| 600374<\/td> | BBS4<\/td> | Bardet-Biedl syndrome 4<\/td>\n<\/tr>\n |
| 603650<\/td> | BBS5<\/td> | Bardet-Biedl syndrome 5<\/td>\n<\/tr>\n |
| 607590<\/td> | BBS7<\/td> | Bardet-Biedl syndrome 7<\/td>\n<\/tr>\n |
| 607968<\/td> | BBS9<\/td> | Bardet-Biedl syndrome 9<\/td>\n<\/tr>\n |
| 612773<\/td> | BCAM<\/td> | Blood group, Lutheran system; Blood group, Auberger system; Blood group, Lutheran null<\/td>\n<\/tr>\n |
| 300398<\/td> | BCAP31<\/td> | Deafness, dystonia, and cerebral hypomyelination, X-linked recessive<\/td>\n<\/tr>\n |
| 607470<\/td> | BCAS3<\/td> | Hengel-Maroofian-Schols syndrome<\/td>\n<\/tr>\n |
| 113530<\/td> | BCAT2<\/td> | Hypervalinemia and hyperleucine-isoleucinemia<\/td>\n<\/tr>\n |
| 605462<\/td> | BCC1<\/td> | Basal cell carcinoma, susceptibility to, 1<\/td>\n<\/tr>\n |
| 613058<\/td> | BCC2<\/td> | Basal cell carcinoma, susceptibility to, 2<\/td>\n<\/tr>\n |
| 613059<\/td> | BCC3<\/td> | Basal cell carcinoma, susceptibility to, 3<\/td>\n<\/tr>\n |
| 613061<\/td> | BCC4<\/td> | Basal cell carcinoma, susceptibility to, 4<\/td>\n<\/tr>\n |
| 613062<\/td> | BCC5<\/td> | Basal cell carcinoma, susceptibility to, 5<\/td>\n<\/tr>\n |
| 613063<\/td> | BCC6<\/td> | Basal cell carcinoma, susceptibility to, 6<\/td>\n<\/tr>\n |
| 177400<\/td> | BCHE<\/td> | Butyrylcholinesterase deficiency; Apnea, postanesthetic, susceptibility to, due to BCHE deficiency<\/td>\n<\/tr>\n |
| 608348<\/td> | BCKDHA<\/td> | Maple syrup urine disease, type Ia<\/td>\n<\/tr>\n |
| 248611<\/td> | BCKDHB<\/td> | Maple syrup urine disease, type Ib<\/td>\n<\/tr>\n |
| 614901<\/td> | BCKDK<\/td> | Branched-chain keto acid dehydrogenase kinase deficiency<\/td>\n<\/tr>\n |
| 603517<\/td> | BCL10<\/td> | Lymphoma, follicular, somatic; Immunodeficiency 37; Sezary syndrome, somatic; Male germ cell tumor, somatic; Lymphoma, MALT, somatic; Mesothelioma, somatic<\/td>\n<\/tr>\n |
| 606557<\/td> | BCL11A<\/td> | Dias-Logan syndrome<\/td>\n<\/tr>\n |
| 606558<\/td> | BCL11B<\/td> | Immunodeficiency 49, severe combined; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities<\/td>\n<\/tr>\n |
| 151430<\/td> | BCL2<\/td> | Leukemia\/lymphoma, B-cell, 2<\/td>\n<\/tr>\n |
| 109560<\/td> | BCL3<\/td> | Leukemia\/lymphoma, B-cell, 3<\/td>\n<\/tr>\n |
| 605748<\/td> | BCO1<\/td> | Hypercarotenemia and vitamin A deficiency<\/td>\n<\/tr>\n |
| 300485<\/td> | BCOR<\/td> | Microphthalmia, syndromic 2, X-linked dominant<\/td>\n<\/tr>\n |
| 300688<\/td> | BCORL1<\/td> | Shukla-Vernon syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 151410<\/td> | BCR<\/td> | Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic; Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic<\/td>\n<\/tr>\n |
| 603647<\/td> | BCS1L<\/td> | GRACILE syndrome; Mitochondrial complex III deficiency, nuclear type 1; Bjornstad syndrome<\/td>\n<\/tr>\n |
| 607004<\/td> | BDA1B<\/td> | Brachydactyly, type A1, B<\/td>\n<\/tr>\n |
| 605913<\/td> | BDET<\/td> | Bleeding disorder, east Texas type<\/td>\n<\/tr>\n |
| 607012<\/td> | BDP1<\/td> | Deafness 112<\/td>\n<\/tr>\n |
| 614158<\/td> | BDPLT14<\/td> | Bleeding disorder, platelet-type, 14<\/td>\n<\/tr>\n |
| 614200<\/td> | BDPLT9<\/td> | Bleeding disorder, platelet-type, 9<\/td>\n<\/tr>\n |
| 612051<\/td> | BEAN1<\/td> | Spinocerebellar ataxia 31<\/td>\n<\/tr>\n |
| 300843<\/td> | BED<\/td> | Bornholm eye disease, X-linked recessive<\/td>\n<\/tr>\n |
| 607854<\/td> | BEST1<\/td> | Macular dystrophy, vitelliform, 2; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2; Retinitis pigmentosa-50; Retinitis pigmentosa, concentric; Vitreoretinochoroidopathy; Bestrophinopathy<\/td>\n<\/tr>\n |
| 605456<\/td> | BET1<\/td> | Muscular dystrophy, congenital, with rapid progression<\/td>\n<\/tr>\n |
| 601764<\/td> | BFIS1<\/td> | Seizures, benign familial infantile, 1<\/td>\n<\/tr>\n |
| 612627<\/td> | BFIS4<\/td> | Seizures, benign familial infantile, 4<\/td>\n<\/tr>\n |
| 603307<\/td> | BFSP1<\/td> | Cataract 33, multiple types<\/td>\n<\/tr>\n |
| 603212<\/td> | BFSP2<\/td> | Cataract 12, multiple types<\/td>\n<\/tr>\n |
| 301870<\/td> | BGN<\/td> | Meester-Loeys syndrome, X-linked; Spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 615416<\/td> | BHLHA9<\/td> | Camptosynpolydactyly, complex; Syndactyly, mesoaxial synostotic, with phalangeal reduction<\/td>\n<\/tr>\n |
| 606200<\/td> | BHLHE41<\/td> | Short sleep, familial natural, 1<\/td>\n<\/tr>\n |
| 614295<\/td> | BICC1<\/td> | Renal dysplasia, cystic, susceptibility to<\/td>\n<\/tr>\n |
| 609797<\/td> | BICD2<\/td> | Spinal muscular atrophy, lower extremity-predominant, 2B; Spinal muscular atrophy, lower extremity-predominant, 2A<\/td>\n<\/tr>\n |
| 605690<\/td> | BICRA<\/td> | Coffin-Siris syndrome 12<\/td>\n<\/tr>\n |
| 601248<\/td> | BIN1<\/td> | Centronuclear myopathy 2<\/td>\n<\/tr>\n |
| 191305<\/td> | BLK<\/td> | Maturity-onset diabetes of the young, type 11<\/td>\n<\/tr>\n |
| 604610<\/td> | BLM<\/td> | Bloom syndrome<\/td>\n<\/tr>\n |
| 604515<\/td> | BLNK<\/td> | Agammaglobulinemia 4<\/td>\n<\/tr>\n |
| 609762<\/td> | BLOC1S3<\/td> | Hermansky-Pudlak syndrome 8<\/td>\n<\/tr>\n |
| 607289<\/td> | BLOC1S5<\/td> | Hermansky-Pudlak syndrome 11<\/td>\n<\/tr>\n |
| 604310<\/td> | BLOC1S6<\/td> | Hermansky-Pudlak syndrome 9<\/td>\n<\/tr>\n |
| 611565<\/td> | BLTP1<\/td> | Alkuraya-Kucinskas syndrome<\/td>\n<\/tr>\n |
| 109750<\/td> | BLVRA<\/td> | Hyperbiliverdinemia<\/td>\n<\/tr>\n |
| 606641<\/td> | BMIQ1<\/td> | Body mass index QTL1<\/td>\n<\/tr>\n |
| 612459<\/td> | BMIQ13<\/td> | Body mass index QTL13<\/td>\n<\/tr>\n |
| 612967<\/td> | BMIQ15<\/td> | Body mass index QTL 15<\/td>\n<\/tr>\n |
| 606643<\/td> | BMIQ2<\/td> | Body mass index QTL2<\/td>\n<\/tr>\n |
| 607446<\/td> | BMIQ3<\/td> | Body mass index QTL3<\/td>\n<\/tr>\n |
| 608558<\/td> | BMIQ5<\/td> | Body mass index QTL5<\/td>\n<\/tr>\n |
| 608559<\/td> | BMIQ6<\/td> | Body mass index QTL6<\/td>\n<\/tr>\n |
| 608410<\/td> | BMIQ7<\/td> | Obesity, susceptibility to, BMIQ7<\/td>\n<\/tr>\n |
| 603188<\/td> | BMIQ8<\/td> | Obesity, susceptibility to, BMIQ8<\/td>\n<\/tr>\n |
| 612113<\/td> | BMND10<\/td> | Bone mineral density QTL 10<\/td>\n<\/tr>\n |
| 612114<\/td> | BMND11<\/td> | Bone mineral density QTL 11<\/td>\n<\/tr>\n |
| 612727<\/td> | BMND13<\/td> | Bone mineral density QTL 13<\/td>\n<\/tr>\n |
| 612728<\/td> | BMND14<\/td> | Bone mineral density QTL 14<\/td>\n<\/tr>\n |
| 605833<\/td> | BMND2<\/td> | Bone mineral density QTL 2<\/td>\n<\/tr>\n |
| 606928<\/td> | BMND3<\/td> | Bone mineral density QTL 3<\/td>\n<\/tr>\n |
| 300536<\/td> | BMND4<\/td> | Bone mineral density QTL 4<\/td>\n<\/tr>\n |
| 609354<\/td> | BMND5<\/td> | Bone mineral density QTL 5<\/td>\n<\/tr>\n |
| 609876<\/td> | BMND6<\/td> | Bone mineral density QTL 6<\/td>\n<\/tr>\n |
| 611738<\/td> | BMND7<\/td> | Osteoporosis<\/td>\n<\/tr>\n |
| 611739<\/td> | BMND8<\/td> | Osteoporosis<\/td>\n<\/tr>\n |
| 612110<\/td> | BMND9<\/td> | Bone mineral density QTL 9<\/td>\n<\/tr>\n |
| 112264<\/td> | BMP1<\/td> | Osteogenesis imperfecta, type XIII<\/td>\n<\/tr>\n |
| 300247<\/td> | BMP15<\/td> | Premature ovarian failure 4, X-linked; Ovarian dysgenesis 2, X-linked<\/td>\n<\/tr>\n |
| 112261<\/td> | BMP2<\/td> | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1; Brachydactyly, type A2; HFE hemochromatosis, modifier of<\/td>\n<\/tr>\n |
| 112262<\/td> | BMP4<\/td> | Orofacial cleft 11; Microphthalmia, syndromic 6<\/td>\n<\/tr>\n |
| 112266<\/td> | BMP6<\/td> | Iron overload, susceptibility to<\/td>\n<\/tr>\n |
| 608699<\/td> | BMPER<\/td> | Diaphanospondylodysostosis<\/td>\n<\/tr>\n |
| 601299<\/td> | BMPR1A<\/td> | Polyposis syndrome, hereditary mixed, 2; Polyposis, juvenile intestinal<\/td>\n<\/tr>\n |
| 603248<\/td> | BMPR1B<\/td> | Acromesomelic dysplasia 3; Brachydactyly, type A2; Brachydactyly, type A1, D<\/td>\n<\/tr>\n |
| 600799<\/td> | BMPR2<\/td> | Pulmonary hypertension, familial primary, 1, with or without HHT; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated; Pulmonary venoocclusive disease 1<\/td>\n<\/tr>\n |
| 611448<\/td> | BMS1<\/td> | Aplasia cutis congenita, nonsyndromic<\/td>\n<\/tr>\n |
| 601930<\/td> | BNC1<\/td> | Premature ovarian failure 16<\/td>\n<\/tr>\n |
| 608669<\/td> | BNC2<\/td> | Lower urinary tract obstruction, congenital<\/td>\n<\/tr>\n |
| 613183<\/td> | BOLA3<\/td> | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia<\/td>\n<\/tr>\n |
| 120502<\/td> | BOS2<\/td> | Branchiootic syndrome 2<\/td>\n<\/tr>\n |
| 613896<\/td> | BPGM<\/td> | Erythrocytosis, familial, 8<\/td>\n<\/tr>\n |
| 614010<\/td> | BPNT2<\/td> | Chondrodysplasia with joint dislocations, GPAPP type<\/td>\n<\/tr>\n |
| 193007<\/td> | BPPV<\/td> | Vestibulopathy, familial<\/td>\n<\/tr>\n |
| 601819<\/td> | BPTF<\/td> | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; Kaposi sarcoma, susceptibility to<\/td>\n<\/tr>\n |
| 164757<\/td> | BRAF<\/td> | Melanoma, malignant, somatic; LEOPARD syndrome 3; Cardiofaciocutaneous syndrome; Adenocarcinoma of lung, somatic; Noonan syndrome 7; Colorectal cancer, somatic; Nonsmall cell lung cancer, somatic<\/td>\n<\/tr>\n |
| 614506<\/td> | BRAT1<\/td> | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures; Rigidity and multifocal seizure syndrome, lethal neonatal<\/td>\n<\/tr>\n |
| 113705<\/td> | BRCA1<\/td> | Fanconi anemia, complementation group S; Breast-ovarian cancer, familial, 1, Multifactorial; Pancreatic cancer, susceptibility to, 4<\/td>\n<\/tr>\n |
| 600185<\/td> | BRCA2<\/td> | Fanconi anemia, complementation group D1; Glioblastoma 3; Medulloblastoma, Somatic mutation; Prostate cancer, Somatic mutation; Breast-ovarian cancer, familial, 2; Breast cancer, male, susceptibility to, Somatic mutation; Pancreatic cancer 2; Wilms tumor, Somatic mutation<\/td>\n<\/tr>\n |
| 608749<\/td> | BRD4<\/td> | Cornelia de Lange syndrome 6<\/td>\n<\/tr>\n |
| 602144<\/td> | BRDT<\/td> | Spermatogenic failure 21<\/td>\n<\/tr>\n |
| 604902<\/td> | BRF1<\/td> | Cerebellofaciodental syndrome<\/td>\n<\/tr>\n |
| 605882<\/td> | BRIP1<\/td> | Fanconi anemia, complementation group J; Breast cancer, early-onset, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 602410<\/td> | BRPF1<\/td> | Intellectual developmental disorder with dysmorphic facies and ptosis<\/td>\n<\/tr>\n |
| 613106<\/td> | BRV2<\/td> | Vertigo, benign recurrent, 2<\/td>\n<\/tr>\n |
| 617824<\/td> | BRWD1<\/td> | Ciliary dyskinesia, primary, 51<\/td>\n<\/tr>\n |
| 300553<\/td> | BRWD3<\/td> | Intellectual developmental disorder, X-linked 93, X-linked recessive<\/td>\n<\/tr>\n |
| 606158<\/td> | BSCL2<\/td> | Lipodystrophy, congenital generalized, type 2; Neuronopathy, distal hereditary motor 13; Silver spastic paraplegia syndrome; Encephalopathy, progressive, with or without lipodystrophy<\/td>\n<\/tr>\n |
| 109480<\/td> | BSG<\/td> | Blood group, OK<\/td>\n<\/tr>\n |
| 606412<\/td> | BSND<\/td> | Sensorineural deafness with mild renal dysfunction; Bartter syndrome, type 4a<\/td>\n<\/tr>\n |
| 609656<\/td> | BSZQTL<\/td> | Bone size QTL<\/td>\n<\/tr>\n |
| 609657<\/td> | BSZQTL2<\/td> | Bone size QTL<\/td>\n<\/tr>\n |
| 610649<\/td> | BSZQTL3<\/td> | Bone size quantitative trait locus 3<\/td>\n<\/tr>\n |
| 609019<\/td> | BTD<\/td> | Biotinidase deficiency<\/td>\n<\/tr>\n |
| 605673<\/td> | BTG4<\/td> | Oocyte\/zygote\/embryo maturation arrest 8<\/td>\n<\/tr>\n |
| 300300<\/td> | BTK<\/td> | Agammaglobulinemia, X-linked 1, X-linked recessive; Isolated growth hormone deficiency, type III, with agammaglobulinemia, X-linked recessive<\/td>\n<\/tr>\n |
| 606000<\/td> | BTNL2<\/td> | Sarcoidosis, susceptibility to, 2<\/td>\n<\/tr>\n |
| 602452<\/td> | BUB1<\/td> | Colorectal cancer with chromosomal instability, somatic; Microcephaly 30, primary<\/td>\n<\/tr>\n |
| 602860<\/td> | BUB1B<\/td> | Colorectal cancer, somatic; Premature chromatid separation trait; Mosaic variegated aneuploidy syndrome 1<\/td>\n<\/tr>\n |
| 607499<\/td> | BULN<\/td> | Bulimia nervosa, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 613459<\/td> | BWQTL2<\/td> | Birth weight QTL 2<\/td>\n<\/tr>\n |
| 615192<\/td> | BWQTL4<\/td> | Birth weight QTL4<\/td>\n<\/tr>\n |
| 615140<\/td> | C12orf57<\/td> | Temtamy syndrome<\/td>\n<\/tr>\n |
| 617307<\/td> | C14orf39<\/td> | Spermatogenic failure 52; Premature ovarian failure 18<\/td>\n<\/tr>\n |
| 619979<\/td> | C18orf32<\/td> | Glycosylphosphatidylinositol biosynthesis defect 25<\/td>\n<\/tr>\n |
| 614297<\/td> | C19orf12<\/td> | Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43<\/td>\n<\/tr>\n |
| 300611<\/td> | C1GALT1C1<\/td> | Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, X-linked recessive; Tn polyagglutination syndrome, somatic<\/td>\n<\/tr>\n |
| 120550<\/td> | C1QA<\/td> | C1q deficiency 1<\/td>\n<\/tr>\n |
| 120570<\/td> | C1QB<\/td> | C1q deficiency 2<\/td>\n<\/tr>\n |
| 601269<\/td> | C1QBP<\/td> | Combined oxidative phosphorylation deficiency 33<\/td>\n<\/tr>\n |
| 120575<\/td> | C1QC<\/td> | C1q deficiency 3<\/td>\n<\/tr>\n |
| 608752<\/td> | C1QTNF5<\/td> | Retinal degeneration, late-onset<\/td>\n<\/tr>\n |
| 613785<\/td> | C1R<\/td> | Ehlers-Danlos syndrome, periodontal type, 1<\/td>\n<\/tr>\n |
| 120580<\/td> | C1S<\/td> | C1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2<\/td>\n<\/tr>\n |
| 613927<\/td> | C2<\/td> | C2 deficiency; Macular degeneration, age-related, 14, reduced risk of, Digenic dominant<\/td>\n<\/tr>\n |
| 615944<\/td> | C2CD3<\/td> | Orofaciodigital syndrome XIV<\/td>\n<\/tr>\n |
| 619776<\/td> | C2CD6<\/td> | Spermatogenic failure 68<\/td>\n<\/tr>\n |
| 619219<\/td> | C2orf69<\/td> | Combined oxidative phosphorylation deficiency 53<\/td>\n<\/tr>\n |
| 120700<\/td> | C3<\/td> | C3 deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 5; Macular degeneration, age-related, 9<\/td>\n<\/tr>\n |
| 611956<\/td> | C3orf52<\/td> | Hypotrichosis 15<\/td>\n<\/tr>\n |
| 120810<\/td> | C4A<\/td> | Blood group, Rodgers; C4a deficiency<\/td>\n<\/tr>\n |
| 120820<\/td> | C4B<\/td> | C4B deficiency<\/td>\n<\/tr>\n |
| 120900<\/td> | C5<\/td> | C5 deficiency; Eculizumab, poor response to<\/td>\n<\/tr>\n |
| 217050<\/td> | C6<\/td> | C6 deficiency<\/td>\n<\/tr>\n |
| 217070<\/td> | C7<\/td> | C7 deficiency<\/td>\n<\/tr>\n |
| 120950<\/td> | C8A<\/td> | C8 deficiency, type I<\/td>\n<\/tr>\n |
| 120960<\/td> | C8B<\/td> | C8 deficiency, type II<\/td>\n<\/tr>\n |
| 120940<\/td> | C9<\/td> | C9 deficiency; Macular degeneration, age-related, 15, susceptibility to<\/td>\n<\/tr>\n |
| 614260<\/td> | C9orf72<\/td> | Frontotemporal dementia and\/or amyotrophic lateral sclerosis 1<\/td>\n<\/tr>\n |
| 603263<\/td> | CA12<\/td> | Hyperchlorhidrosis, isolated<\/td>\n<\/tr>\n |
| 611492<\/td> | CA2<\/td> | Osteopetrosis 3, with renal tubular acidosis<\/td>\n<\/tr>\n |
| 114761<\/td> | CA5A<\/td> | Hyperammonemia due to carbonic anhydrase VA deficiency<\/td>\n<\/tr>\n |
| 114815<\/td> | CA8<\/td> | Spinocerebellar ataxia 34<\/td>\n<\/tr>\n |
| 607314<\/td> | CABP2<\/td> | Deafness 93<\/td>\n<\/tr>\n |
| 608965<\/td> | CABP4<\/td> | Cone-rod synaptic disorder, congenital nonprogressive<\/td>\n<\/tr>\n |
| 601011<\/td> | CACNA1A<\/td> | Spinocerebellar ataxia 6; Episodic ataxia, type 2; Developmental and epileptic encephalopathy 42; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Migraine, familial hemiplegic, 1<\/td>\n<\/tr>\n |
| 601012<\/td> | CACNA1B<\/td> | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements<\/td>\n<\/tr>\n |
| 114205<\/td> | CACNA1C<\/td> | Timothy syndrome; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures; Brugada syndrome 3<\/td>\n<\/tr>\n |
| 114206<\/td> | CACNA1D<\/td> | Primary aldosteronism, seizures, and neurologic abnormalities; Sinoatrial node dysfunction and deafness<\/td>\n<\/tr>\n |
| 601013<\/td> | CACNA1E<\/td> | Developmental and epileptic encephalopathy 69<\/td>\n<\/tr>\n |
| 300110<\/td> | CACNA1F<\/td> | Cone-rod dystrophy, X-linked, 3, X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked; Aland Island eye disease, X-linked<\/td>\n<\/tr>\n |
| 604065<\/td> | CACNA1G<\/td> | Spinocerebellar ataxia 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits<\/td>\n<\/tr>\n |
| 607904<\/td> | CACNA1H<\/td> | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV; Epilepsy, idiopathic generalized, susceptibility to, 6<\/td>\n<\/tr>\n |
| 608230<\/td> | CACNA1I<\/td> | Neurodevelopmental disorder with speech impairment and with or without seizures<\/td>\n<\/tr>\n |
| 114208<\/td> | CACNA1S<\/td> | Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 due to dihydropyridine receptor defect; Hypokalemic periodic paralysis, type 1; Malignant hyperthermia susceptibility 5<\/td>\n<\/tr>\n |
| 114204<\/td> | CACNA2D1<\/td> | Developmental and epileptic encephalopathy 110<\/td>\n<\/tr>\n |
| 607082<\/td> | CACNA2D2<\/td> | Cerebellar atrophy with seizures and variable developmental delay<\/td>\n<\/tr>\n |
| 608171<\/td> | CACNA2D4<\/td> | Retinal cone dystrophy 4<\/td>\n<\/tr>\n |
| 600003<\/td> | CACNB2<\/td> | Brugada syndrome 4<\/td>\n<\/tr>\n |
| 601949<\/td> | CACNB4<\/td> | Epilepsy, juvenile myoclonic, susceptibility to, 6; Episodic ataxia, type 5; Epilepsy, idiopathic generalized, susceptibility to, 9<\/td>\n<\/tr>\n |
| 602911<\/td> | CACNG2<\/td> | Intellectual developmental disorder 10<\/td>\n<\/tr>\n |
| 114010<\/td> | CAD<\/td> | Developmental and epileptic encephalopathy 50<\/td>\n<\/tr>\n |
| 609743<\/td> | CADM3<\/td> | Charcot-Marie-Tooth disease, axonal, type 2FF<\/td>\n<\/tr>\n |
| 114131<\/td> | CALCR<\/td> | Osteoporosis, postmenopausal, susceptibility<\/td>\n<\/tr>\n |
| 114190<\/td> | CALCRL<\/td> | Lymphatic malformation 8<\/td>\n<\/tr>\n |
| 114180<\/td> | CALM1<\/td> | Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14<\/td>\n<\/tr>\n |
| 114182<\/td> | CALM2<\/td> | Long QT syndrome 15<\/td>\n<\/tr>\n |
| 114183<\/td> | CALM3<\/td> | Long QT syndrome 16; Ventricular tachycardia, catecholaminergic polymorphic 6<\/td>\n<\/tr>\n |
| 109091<\/td> | CALR<\/td> | Myelofibrosis, somatic; Thrombocythemia, somatic<\/td>\n<\/tr>\n |
| 114078<\/td> | CAMK2A<\/td> | Intellectual developmental disorder 53; Intellectual developmental disorder 63<\/td>\n<\/tr>\n |
| 607707<\/td> | CAMK2B<\/td> | Intellectual developmental disorder 54<\/td>\n<\/tr>\n |
| 602123<\/td> | CAMK2G<\/td> | Intellectual developmental disorder 59<\/td>\n<\/tr>\n |
| 601118<\/td> | CAMLG<\/td> | Congenital disorder of glycosylation, type IIz<\/td>\n<\/tr>\n |
| 114200<\/td> | CAMPD1<\/td> | Camptodactyly 1<\/td>\n<\/tr>\n |
| 613774<\/td> | CAMSAP1<\/td> | Cortical dysplasia, complex, with other brain malformations 12<\/td>\n<\/tr>\n |
| 611501<\/td> | CAMTA1<\/td> | Cerebellar dysfunction with variable cognitive and behavioral abnormalities<\/td>\n<\/tr>\n |
| 114580<\/td> | CANDF1<\/td> | Candidiasis, familial, 1<\/td>\n<\/tr>\n |
| 607644<\/td> | CANDN1<\/td> | Candidiasis, familial, 3<\/td>\n<\/tr>\n |
| 613165<\/td> | CANT1<\/td> | Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7<\/td>\n<\/tr>\n |
| 618385<\/td> | CAP2<\/td> | Cardiomyopathy, dilated, 2I<\/td>\n<\/tr>\n |
| 114220<\/td> | CAPN1<\/td> | Spastic paraplegia 76<\/td>\n<\/tr>\n |
| 605286<\/td> | CAPN10<\/td> | Diabetes mellitus, noninsulin-dependent 1<\/td>\n<\/tr>\n |
| 603267<\/td> | CAPN15<\/td> | Oculogastrointestinal neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 114240<\/td> | CAPN3<\/td> | Muscular dystrophy, limb-girdle 1; Muscular dystrophy, limb-girdle 4<\/td>\n<\/tr>\n |
| 602537<\/td> | CAPN5<\/td> | Vitreoretinopathy, neovascular inflammatory<\/td>\n<\/tr>\n |
| 114170<\/td> | CAPNS1<\/td> | Pulmonary hypertension, primary, 6<\/td>\n<\/tr>\n |
| 601178<\/td> | CAPRIN1<\/td> | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline<\/td>\n<\/tr>\n |
| 607209<\/td> | CARD10<\/td> | Immunodeficiency 89 and autoimmunity<\/td>\n<\/tr>\n |
| 607210<\/td> | CARD11<\/td> | B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11B with atopic dermatitis; Immunodeficiency 11A<\/td>\n<\/tr>\n |
| 607211<\/td> | CARD14<\/td> | Psoriasis 2; Pityriasis rubra pilaris<\/td>\n<\/tr>\n |
| 609051<\/td> | CARD8<\/td> | Inflammatory bowel disease (Crohn disease) 30<\/td>\n<\/tr>\n |
| 607212<\/td> | CARD9<\/td> | Immunodeficiency 103, susceptibility to fungal infection<\/td>\n<\/tr>\n |
| 610859<\/td> | CARMIL2<\/td> | Immunodeficiency 58<\/td>\n<\/tr>\n |
| 123859<\/td> | CARS1<\/td> | Microcephaly, developmental delay, and brittle hair syndrome<\/td>\n<\/tr>\n |
| 612800<\/td> | CARS2<\/td> | Combined oxidative phosphorylation deficiency 27<\/td>\n<\/tr>\n |
| 602606<\/td> | CARTPT<\/td> | Obesity, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 300172<\/td> | CASK<\/td> | Intellectual developmental disorder, with or without nystagmus, X-linked recessive; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked; FG syndrome 4, X-linked recessive<\/td>\n<\/tr>\n |
| 601762<\/td> | CASP10<\/td> | Autoimmune lymphoproliferative syndrome, type II; Gastric cancer, somatic; Lymphoma, non-Hodgkin, somatic<\/td>\n<\/tr>\n |
| 608633<\/td> | CASP12<\/td> | Sepsis, susceptibility to<\/td>\n<\/tr>\n |
| 605848<\/td> | CASP14<\/td> | Ichthyosis, congenital 12<\/td>\n<\/tr>\n |
| 600639<\/td> | CASP2<\/td> | Intellectual developmental disorder 80, with variant lissencephaly<\/td>\n<\/tr>\n |
| 601763<\/td> | CASP8<\/td> | Breast cancer, protection against, Somatic mutation; Caspase 8 lymphadenopathy syndrome; Hepatocellular carcinoma, somatic; Lung cancer, protection against, Somatic mutation<\/td>\n<\/tr>\n |
| 114250<\/td> | CASQ1<\/td> | Myopathy, vacuolar, with CASQ1 aggregates<\/td>\n<\/tr>\n |
| 114251<\/td> | CASQ2<\/td> | Ventricular tachycardia, catecholaminergic polymorphic, 2<\/td>\n<\/tr>\n |
| 601199<\/td> | CASR<\/td> | Hypocalcemia, with Bartter syndrome; Hyperparathyroidism, neonatal; Hypocalcemia; Hypocalciuric hypercalcemia, type I; Epilepsy idiopathic generalized, susceptibility to, 8<\/td>\n<\/tr>\n |
| 114090<\/td> | CAST<\/td> | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads<\/td>\n<\/tr>\n |
| 115500<\/td> | CAT<\/td> | Acatalasemia<\/td>\n<\/tr>\n |
| 619387<\/td> | CATIP<\/td> | Spermatogenic failure 54<\/td>\n<\/tr>\n |
| 606389<\/td> | CATSPER1<\/td> | Spermatogenic failure 7<\/td>\n<\/tr>\n |
| 601047<\/td> | CAV1<\/td> | Lipodystrophy, congenital generalized, type 3; Pulmonary hypertension, primary, 3; Lipodystrophy, familial partial, type 7<\/td>\n<\/tr>\n |
| 601253<\/td> | CAV3<\/td> | Myopathy, distal, Tateyama type; Creatine phosphokinase, elevated serum; Cardiomyopathy, familial hypertrophic, Digenic dominant; Rippling muscle disease 2; Long QT syndrome 9<\/td>\n<\/tr>\n |
| 603198<\/td> | CAVIN1<\/td> | Lipodystrophy, congenital generalized, type 4<\/td>\n<\/tr>\n |
| 121360<\/td> | CBFB<\/td> | Cleidocranial dysplasia 2<\/td>\n<\/tr>\n |
| 165360<\/td> | CBL<\/td> | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Juvenile myelomonocytic leukemia, Somatic mutation<\/td>\n<\/tr>\n |
| 604491<\/td> | CBLB<\/td> | Autoimmune disease, multisystem, infantile-onset, 3<\/td>\n<\/tr>\n |
| 609342<\/td> | CBLIF<\/td> | Intrinsic factor deficiency<\/td>\n<\/tr>\n |
| 613381<\/td> | CBS<\/td> | Thrombosis, hyperhomocysteinemic; Homocystinuria, B6-responsive and nonresponsive types<\/td>\n<\/tr>\n |
| 602770<\/td> | CBX2<\/td> | 46XY sex reversal 5<\/td>\n<\/tr>\n |
| 610055<\/td> | CC2D1A<\/td> | Intellectual developmental disorder 3<\/td>\n<\/tr>\n |
| 612013<\/td> | CC2D2A<\/td> | COACH syndrome 2; Retinitis pigmentosa 93; Meckel syndrome 6; Joubert syndrome 9<\/td>\n<\/tr>\n |
| 115660<\/td> | CCA1<\/td> | Cataract 7<\/td>\n<\/tr>\n |
| 600668<\/td> | CCAL1<\/td> | Chondrocalcinosis with early-onset osteoarthritis<\/td>\n<\/tr>\n |
| 612753<\/td> | CCBE1<\/td> | Hennekam lymphangiectasia-lymphedema syndrome 1<\/td>\n<\/tr>\n |
| 300864<\/td> | CCCSX<\/td> | Cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 614677<\/td> | CCDC103<\/td> | Ciliary dyskinesia, primary, 17<\/td>\n<\/tr>\n |
| 613734<\/td> | CCDC115<\/td> | Congenital disorder of glycosylation, type IIo<\/td>\n<\/tr>\n |
| 618788<\/td> | CCDC134<\/td> | Osteogenesis imperfecta, type XXII<\/td>\n<\/tr>\n |
| 619829<\/td> | CCDC146<\/td> | Spermatogenic failure 94<\/td>\n<\/tr>\n |
| 616735<\/td> | CCDC174<\/td> | Hypotonia, infantile, with psychomotor retardation<\/td>\n<\/tr>\n |
| 300859<\/td> | CCDC22<\/td> | Ritscher-Schinzel syndrome 2, X-linked recessive<\/td>\n<\/tr>\n |
| 613040<\/td> | CCDC26<\/td> | Glioma susceptibility 7<\/td>\n<\/tr>\n |
| 610162<\/td> | CCDC28B<\/td> | Bardet-Biedl syndrome 1, modifier of, Digenic recessive<\/td>\n<\/tr>\n |
| 618941<\/td> | CCDC32<\/td> | Cardiofacioneurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 612324<\/td> | CCDC34<\/td> | Spermatogenic failure 76<\/td>\n<\/tr>\n |
| 613798<\/td> | CCDC39<\/td> | Ciliary dyskinesia, primary, 14<\/td>\n<\/tr>\n |
| 613799<\/td> | CCDC40<\/td> | Ciliary dyskinesia, primary, 15<\/td>\n<\/tr>\n |
| 618260<\/td> | CCDC47<\/td> | Trichohepatoneurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 611051<\/td> | CCDC50<\/td> | Deafness 44<\/td>\n<\/tr>\n |
| 613481<\/td> | CCDC62<\/td> | Spermatogenic failure 67<\/td>\n<\/tr>\n |
| 611088<\/td> | CCDC65<\/td> | Ciliary dyskinesia, primary, 27<\/td>\n<\/tr>\n |
| 614666<\/td> | CCDC78<\/td> | Centronuclear myopathy 4<\/td>\n<\/tr>\n |
| 614145<\/td> | CCDC8<\/td> | 3-M syndrome 3<\/td>\n<\/tr>\n |
| 609736<\/td> | CCDC88A<\/td> | PEHO syndrome-like<\/td>\n<\/tr>\n |
| 611204<\/td> | CCDC88C<\/td> | Spinocerebellar ataxia 40; Hydrocephalus, congenital, 1<\/td>\n<\/tr>\n |
| 603960<\/td> | CCIN<\/td> | Spermatogenic failure 91<\/td>\n<\/tr>\n |
| 601156<\/td> | CCL11<\/td> | Asthma, susceptibility to; HIV1, resistance to<\/td>\n<\/tr>\n |
| 158105<\/td> | CCL2<\/td> | Mycobacterium tuberculosis, susceptibility to; HIV-1, resistance to; Coronary artery disease, modifier of; Spina bifida, susceptibility to<\/td>\n<\/tr>\n |
| 182283<\/td> | CCL3<\/td> | HIV infection, resistance to<\/td>\n<\/tr>\n |
| 601395<\/td> | CCL3L1<\/td> | HIV\/AIDS, susceptibility to<\/td>\n<\/tr>\n |
| 187011<\/td> | CCL5<\/td> | HIV-1 disease, rapid progression of; HIV-1 disease, delayed progression of<\/td>\n<\/tr>\n |
| 607929<\/td> | CCM2<\/td> | Cerebral cavernous malformations-2<\/td>\n<\/tr>\n |
| 603400<\/td> | CCN6<\/td> | Progressive pseudorheumatoid dysplasia<\/td>\n<\/tr>\n |
| 168461<\/td> | CCND1<\/td> | von Hippel-Lindau syndrome, modifier of; Colorectal cancer, susceptibility to, Somatic mutation; Multiple myeloma, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 123833<\/td> | CCND2<\/td> | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3<\/td>\n<\/tr>\n |
| 600227<\/td> | CCNF<\/td> | Frontotemporal dementia and\/or amyotrophic lateral sclerosis 5<\/td>\n<\/tr>\n |
| 603544<\/td> | CCNK<\/td> | Intellectual developmental disorder with hypertelorism and distinctive facies<\/td>\n<\/tr>\n |
| 607752<\/td> | CCNO<\/td> | Ciliary dyskinesia, primary, 29<\/td>\n<\/tr>\n |
| 300708<\/td> | CCNQ<\/td> | STAR syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 601267<\/td> | CCR2<\/td> | HIV infection, susceptibility\/resistance to; Polycystic lung disease<\/td>\n<\/tr>\n |
| 601373<\/td> | CCR5<\/td> | HIV infection, susceptibility\/resistance to; Diabetes mellitus, insulin-dependent, 22; Hepatitis C virus, resistance to; West nile virus, susceptibility to<\/td>\n<\/tr>\n |
| 610150<\/td> | CCT5<\/td> | Neuropathy, hereditary sensory, with spastic paraplegia<\/td>\n<\/tr>\n |
| 115665<\/td> | CCV<\/td> | Cataract 8, multiple types<\/td>\n<\/tr>\n |
| 602243<\/td> | CD151<\/td> | Blood group, Raph; Epidermolysis bullosa simplex 7, with nephropathy and deafness<\/td>\n<\/tr>\n |
| 603356<\/td> | CD164<\/td> | Deafness 66<\/td>\n<\/tr>\n |
| 107265<\/td> | CD19<\/td> | Immunodeficiency, common variable, 3<\/td>\n<\/tr>\n |
| 604862<\/td> | CD207<\/td> | Birbeck granule deficiency<\/td>\n<\/tr>\n |
| 604672<\/td> | CD209<\/td> | HIV type 1, susceptibility to; Mycobacterium tuberculosis, susceptibility to; Dengue fever, protection against<\/td>\n<\/tr>\n |
| 605554<\/td> | CD244<\/td> | Rheumatoid arthritis, susceptibility to<\/td>\n<\/tr>\n |
| 186780<\/td> | CD247<\/td> | Immunodeficiency 25<\/td>\n<\/tr>\n |
| 186711<\/td> | CD27<\/td> | Lymphoproliferative syndrome 2<\/td>\n<\/tr>\n |
| 186760<\/td> | CD28<\/td> | Immunodeficiency 123 with HPV-related verrucosis<\/td>\n<\/tr>\n |
| 604241<\/td> | CD2AP<\/td> | Glomerulosclerosis, focal segmental, 3<\/td>\n<\/tr>\n |
| 606475<\/td> | CD320<\/td> | Methylmalonic aciduria, transient, due to transcobalamin receptor defect<\/td>\n<\/tr>\n |
| 173510<\/td> | CD36<\/td> | Platelet glycoprotein IV deficiency; Coronary heart disease, susceptibility to, 7; Malaria, cerebral, susceptibility to; Malaria, cerebral, reduced risk of<\/td>\n<\/tr>\n |
| 186790<\/td> | CD3D<\/td> | Immunodeficiency 19, severe combined<\/td>\n<\/tr>\n |
| 186830<\/td> | CD3E<\/td> | Immunodeficiency 18; Immunodeficiency 18, SCID variant<\/td>\n<\/tr>\n |
| 186740<\/td> | CD3G<\/td> | Immunodeficiency 17, CD3 gamma deficient<\/td>\n<\/tr>\n |
| 186940<\/td> | CD4<\/td> | Immunodeficiency 79; OKT4 epitope deficiency<\/td>\n<\/tr>\n |
| 109535<\/td> | CD40<\/td> | Immunodeficiency with hyper-IgM, type 3<\/td>\n<\/tr>\n |
| 300386<\/td> | CD40LG<\/td> | Immunodeficiency, X-linked, with hyper-IgM, X-linked recessive<\/td>\n<\/tr>\n |
| 107269<\/td> | CD44<\/td> | Blood group, Indian system<\/td>\n<\/tr>\n |
| 120920<\/td> | CD46<\/td> | Hemolytic uremic syndrome, atypical, susceptibility to, 2<\/td>\n<\/tr>\n |
| 125240<\/td> | CD55<\/td> | Blood group Cromer; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy<\/td>\n<\/tr>\n |
| 107271<\/td> | CD59<\/td> | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy<\/td>\n<\/tr>\n |
| 602840<\/td> | CD70<\/td> | Lymphoproliferative syndrome 3<\/td>\n<\/tr>\n |
| 112205<\/td> | CD79A<\/td> | Agammaglobulinemia 3<\/td>\n<\/tr>\n |
| 147245<\/td> | CD79B<\/td> | Agammaglobulinemia 6<\/td>\n<\/tr>\n |
| 186845<\/td> | CD81<\/td> | Immunodeficiency, common variable, 6<\/td>\n<\/tr>\n |
| 186910<\/td> | CD8A<\/td> | Immunodeficiency 116<\/td>\n<\/tr>\n |
| 606037<\/td> | CD96<\/td> | C syndrome<\/td>\n<\/tr>\n |
| 607465<\/td> | CDAN1<\/td> | Dyserythropoietic anemia, congenital, type Ia<\/td>\n<\/tr>\n |
| 603504<\/td> | CDC14A<\/td> | Deafness 32, with or without immotile sperm<\/td>\n<\/tr>\n |
| 603618<\/td> | CDC20<\/td> | Oocyte\/zygote\/embryo maturation arrest 14<\/td>\n<\/tr>\n |
| 605585<\/td> | CDC40<\/td> | Pontocerebellar hypoplasia, type 15<\/td>\n<\/tr>\n |
| 116952<\/td> | CDC42<\/td> | Takenouchi-Kosaki syndrome<\/td>\n<\/tr>\n |
| 614062<\/td> | CDC42BPB<\/td> | Chilton-Okur-Chung neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 603465<\/td> | CDC45<\/td> | Meier-Gorlin syndrome 7<\/td>\n<\/tr>\n |
| 602627<\/td> | CDC6<\/td> | Meier-Gorlin syndrome 5<\/td>\n<\/tr>\n |
| 607393<\/td> | CDC73<\/td> | Hyperparathyroidism, familial primary; Parathyroid adenoma with cystic changes; Parathyroid carcinoma; Hyperparathyroidism-jaw tumor syndrome<\/td>\n<\/tr>\n |
| 609937<\/td> | CDCA7<\/td> | Immunodeficiency-centromeric instability-facial anomalies syndrome 3<\/td>\n<\/tr>\n |
| 192090<\/td> | CDH1<\/td> | Ovarian cancer, somatic; Blepharocheilodontic syndrome 1; Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and\/or palate; Endometrial carcinoma, somatic; Breast cancer, lobular, somatic<\/td>\n<\/tr>\n |
| 600023<\/td> | CDH11<\/td> | Teebi hypertelorism syndrome 2; Elsahy-Waters syndrome<\/td>\n<\/tr>\n |
| 114019<\/td> | CDH15<\/td> | Intellectual developmental disorder 3<\/td>\n<\/tr>\n |
| 114020<\/td> | CDH2<\/td> | Arrhythmogenic right ventricular dysplasia 14; Attention deficit-hyperactivity disorder 8; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome<\/td>\n<\/tr>\n |
| 605516<\/td> | CDH23<\/td> | Usher syndrome, type 1D, Digenic recessive; Pituitary adenoma 5, multiple types; Usher syndrome, type 1D\/F digenic, Digenic recessive; Deafness 12<\/td>\n<\/tr>\n |
| 114021<\/td> | CDH3<\/td> | Hypotrichosis, congenital, with juvenile macular dystrophy; Ectodermal dysplasia, ectrodactyly, and macular dystrophy<\/td>\n<\/tr>\n |
| 609502<\/td> | CDHR1<\/td> | Macular dystrophy, retinal; Cone-rod dystrophy 15; Retinitis pigmentosa 65<\/td>\n<\/tr>\n |
| 615626<\/td> | CDIN1<\/td> | Dyserythropoietic anemia, congenital, type Ib<\/td>\n<\/tr>\n |
| 603464<\/td> | CDK10<\/td> | Al Kaissi syndrome<\/td>\n<\/tr>\n |
| 603309<\/td> | CDK13<\/td> | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder<\/td>\n<\/tr>\n |
| 614720<\/td> | CDK19<\/td> | Developmental and epileptic encephalopathy 87<\/td>\n<\/tr>\n |
| 123829<\/td> | CDK4<\/td> | Melanoma, cutaneous malignant, 3<\/td>\n<\/tr>\n |
| 123831<\/td> | CDK5<\/td> | Lissencephaly 7 with cerebellar hypoplasia<\/td>\n<\/tr>\n |
| 608201<\/td> | CDK5RAP2<\/td> | Microcephaly 3, primary<\/td>\n<\/tr>\n |
| 603368<\/td> | CDK6<\/td> | Microcephaly 12, primary<\/td>\n<\/tr>\n |
| 603184<\/td> | CDK8<\/td> | Intellectual developmental disorder with hypotonia and behavioral abnormalities<\/td>\n<\/tr>\n |
| 300203<\/td> | CDKL5<\/td> | Developmental and epileptic encephalopathy 2, X-linked dominant<\/td>\n<\/tr>\n |
| 600778<\/td> | CDKN1B<\/td> | Multiple endocrine neoplasia, type IV<\/td>\n<\/tr>\n |
| 600856<\/td> | CDKN1C<\/td> | IMAGE syndrome; Beckwith-Wiedemann syndrome<\/td>\n<\/tr>\n |
| 600160<\/td> | CDKN2A<\/td> | Melanoma and neural system tumor syndrome; Melanoma, cutaneous malignant, 2; Melanoma-pancreatic cancer syndrome<\/td>\n<\/tr>\n |
| 608707<\/td> | CDON<\/td> | Holoprosencephaly 11<\/td>\n<\/tr>\n |
| 602593<\/td> | CDSN<\/td> | Hypotrichosis 2; Peeling skin syndrome 1<\/td>\n<\/tr>\n |
| 605525<\/td> | CDT1<\/td> | Meier-Gorlin syndrome 4<\/td>\n<\/tr>\n |
| 614591<\/td> | CEACAM16<\/td> | Deafness 4B; Deafness 113<\/td>\n<\/tr>\n |
| 116897<\/td> | CEBPA<\/td> | Leukemia, acute myeloid, somatic; Leukemia, acute myeloid, Somatic mutation<\/td>\n<\/tr>\n |
| 600749<\/td> | CEBPE<\/td> | Immunodeficiency 108 with autoinflammation; Specific granule deficiency<\/td>\n<\/tr>\n |
| 114840<\/td> | CEL<\/td> | Maturity-onset diabetes of the young, type VIII<\/td>\n<\/tr>\n |
| 609443<\/td> | CELA2A<\/td> | Abdominal obesity-metabolic syndrome 4<\/td>\n<\/tr>\n |
| 602538<\/td> | CELF2<\/td> | Developmental and epileptic encephalopathy 97<\/td>\n<\/tr>\n |
| 612008<\/td> | CELIAC10<\/td> | Celiac disease, susceptibility to, 10<\/td>\n<\/tr>\n |
| 612009<\/td> | CELIAC11<\/td> | Celiac disease, susceptibility to, 11<\/td>\n<\/tr>\n |
| 612010<\/td> | CELIAC12<\/td> | Celiac disease, susceptibility to, 12<\/td>\n<\/tr>\n |
| 612011<\/td> | CELIAC13<\/td> | Celiac disease, susceptibility to, 13<\/td>\n<\/tr>\n |
| 609754<\/td> | CELIAC2<\/td> | Celiac disease, susceptibility to, 2<\/td>\n<\/tr>\n |
| 607202<\/td> | CELIAC5<\/td> | Celiac disease, susceptibility to, 5<\/td>\n<\/tr>\n |
| 611598<\/td> | CELIAC6<\/td> | Autoimmune disease, susceptibility to, 5; Celiac disease, susceptibility to, 6<\/td>\n<\/tr>\n |
| 612005<\/td> | CELIAC7<\/td> | Celiac disease, susceptibility to, 7<\/td>\n<\/tr>\n |
| 612006<\/td> | CELIAC8<\/td> | Celiac disease, susceptibility to, 8<\/td>\n<\/tr>\n |
| 612007<\/td> | CELIAC9<\/td> | Celiac disease, susceptibility to, 9<\/td>\n<\/tr>\n |
| 604523<\/td> | CELSR1<\/td> | Lymphatic malformation 9<\/td>\n<\/tr>\n |
| 620142<\/td> | CENATAC<\/td> | Mosaic variegated aneuploidy syndrome 4<\/td>\n<\/tr>\n |
| 117143<\/td> | CENPE<\/td> | Microcephaly 13, primary<\/td>\n<\/tr>\n |
| 600236<\/td> | CENPF<\/td> | Stromme syndrome<\/td>\n<\/tr>\n |
| 609279<\/td> | CENPJ<\/td> | Microcephaly 6, primary; Seckel syndrome 4<\/td>\n<\/tr>\n |
| 611510<\/td> | CENPT<\/td> | Short stature and microcephaly with genital anomalies<\/td>\n<\/tr>\n |
| 616690<\/td> | CEP104<\/td> | Joubert syndrome 25; Intellectual developmental disorder 77<\/td>\n<\/tr>\n |
| 618980<\/td> | CEP112<\/td> | Spermatogenic failure 44<\/td>\n<\/tr>\n |
| 613446<\/td> | CEP120<\/td> | Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31<\/td>\n<\/tr>\n |
| 611423<\/td> | CEP135<\/td> | Microcephaly 8, primary<\/td>\n<\/tr>\n |
| 613529<\/td> | CEP152<\/td> | Microcephaly 9, primary; Seckel syndrome 5<\/td>\n<\/tr>\n |
| 614848<\/td> | CEP164<\/td> | Nephronophthisis 15<\/td>\n<\/tr>\n |
| 615586<\/td> | CEP19<\/td> | Morbid obesity and spermatogenic failure<\/td>\n<\/tr>\n |
| 609689<\/td> | CEP250<\/td> | Cone-rod dystrophy and hearing loss 2<\/td>\n<\/tr>\n |
| 610142<\/td> | CEP290<\/td> | Leber congenital amaurosis 10; Joubert syndrome 5; Senior-Loken syndrome 6; Bardet-Biedl syndrome 14; Meckel syndrome 4<\/td>\n<\/tr>\n |
| 617728<\/td> | CEP295<\/td> | Seckel syndrome 11<\/td>\n<\/tr>\n |
| 610523<\/td> | CEP41<\/td> | Joubert syndrome 15<\/td>\n<\/tr>\n |
| 605392<\/td> | CEP43<\/td> | Myeloproliferative disorder<\/td>\n<\/tr>\n |
| 610000<\/td> | CEP55<\/td> | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly<\/td>\n<\/tr>\n |
| 607951<\/td> | CEP57<\/td> | Mosaic variegated aneuploidy syndrome 2<\/td>\n<\/tr>\n |
| 614724<\/td> | CEP63<\/td> | Seckel syndrome 6<\/td>\n<\/tr>\n |
| 617110<\/td> | CEP78<\/td> | Cone-rod dystrophy and hearing loss<\/td>\n<\/tr>\n |
| 615847<\/td> | CEP83<\/td> | Nephronophthisis 18<\/td>\n<\/tr>\n |
| 618865<\/td> | CEP85L<\/td> | Lissencephaly 10<\/td>\n<\/tr>\n |
| 608381<\/td> | CERKL<\/td> | Retinitis pigmentosa 26<\/td>\n<\/tr>\n |
| 606919<\/td> | CERS1<\/td> | Epilepsy, progressive myoclonic, 8<\/td>\n<\/tr>\n |
| 615276<\/td> | CERS3<\/td> | Ichthyosis, congenital 9<\/td>\n<\/tr>\n |
| 604677<\/td> | CERT1<\/td> | Intellectual developmental disorder 34<\/td>\n<\/tr>\n |
| 114835<\/td> | CES1<\/td> | Drug metabolism, altered, CES1-related<\/td>\n<\/tr>\n |
| 118470<\/td> | CETP<\/td> | High density lipoprotein cholesterol level QTL 10; Hyperalphalipoproteinemia<\/td>\n<\/tr>\n |
| 618146<\/td> | CFAP251<\/td> | Spermatogenic failure 33<\/td>\n<\/tr>\n |
| 615494<\/td> | CFAP298<\/td> | Ciliary dyskinesia, primary, 26<\/td>\n<\/tr>\n |
| 618058<\/td> | CFAP300<\/td> | Ciliary dyskinesia, primary, 38<\/td>\n<\/tr>\n |
| 603191<\/td> | CFAP410<\/td> | Retinal dystrophy with macular staphyloma; Spondylometaphyseal dysplasia, axial<\/td>\n<\/tr>\n |
| 614477<\/td> | CFAP418<\/td> | Retinitis pigmentosa 64; Cone-rod dystrophy 16; Bardet-Biedl syndrome 21<\/td>\n<\/tr>\n |
| 617558<\/td> | CFAP43<\/td> | Hydrocephalus, normal pressure, 1; Spermatogenic failure 19<\/td>\n<\/tr>\n |
| 617559<\/td> | CFAP44<\/td> | Spermatogenic failure 20<\/td>\n<\/tr>\n |
| 605152<\/td> | CFAP45<\/td> | Heterotaxy, visceral, 11, autosomal, with male infertility<\/td>\n<\/tr>\n |
| 301057<\/td> | CFAP47<\/td> | Spermatogenic failure, X-linked 3, X-linked recessive<\/td>\n<\/tr>\n |
| 609804<\/td> | CFAP52<\/td> | Heterotaxy, visceral, 10, autosomal, with male infertility<\/td>\n<\/tr>\n |
| 614759<\/td> | CFAP53<\/td> | Heterotaxy, visceral, 6<\/td>\n<\/tr>\n |
| 614259<\/td> | CFAP57<\/td> | Spermatogenic failure 95<\/td>\n<\/tr>\n |
| 619129<\/td> | CFAP58<\/td> | Spermatogenic failure 49<\/td>\n<\/tr>\n |
| 620381<\/td> | CFAP61<\/td> | Spermatogenic failure 84<\/td>\n<\/tr>\n |
| 614270<\/td> | CFAP65<\/td> | Spermatogenic failure 40<\/td>\n<\/tr>\n |
| 617949<\/td> | CFAP69<\/td> | Spermatogenic failure 24<\/td>\n<\/tr>\n |
| 618661<\/td> | CFAP70<\/td> | Spermatogenic failure 41<\/td>\n<\/tr>\n |
| 620187<\/td> | CFAP74<\/td> | Ciliary dyskinesia, primary, 49, without situs inversus<\/td>\n<\/tr>\n |
| 609910<\/td> | CFAP91<\/td> | Spermatogenic failure 51<\/td>\n<\/tr>\n |
| 138470<\/td> | CFB<\/td> | Complement factor B deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 4; Macular degeneration, age-related, 14, reduced risk of, Digenic dominant<\/td>\n<\/tr>\n |
| 605194<\/td> | CFC1<\/td> | Heterotaxy, visceral, 2, autosomal<\/td>\n<\/tr>\n |
| 134350<\/td> | CFD<\/td> | Complement factor D deficiency<\/td>\n<\/tr>\n |
| 134370<\/td> | CFH<\/td> | Macular degeneration, age-related, 4; Basal laminar drusen; Complement factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1<\/td>\n<\/tr>\n |
| 134371<\/td> | CFHR1<\/td> | Macular degeneration, age-related, reduced risk of; Hemolytic uremic syndrome, atypical, susceptibility to<\/td>\n<\/tr>\n |
| 605336<\/td> | CFHR3<\/td> | Macular degeneration, age-related, reduced risk of; Hemolytic uremic syndrome, atypical, susceptibility to<\/td>\n<\/tr>\n |
| 608593<\/td> | CFHR5<\/td> | Nephropathy due to CFHR5 deficiency<\/td>\n<\/tr>\n |
| 217030<\/td> | CFI<\/td> | Hemolytic uremic syndrome, atypical, susceptibility to, 3; Macular degeneration, age-related, 13, susceptibility to; Complement factor I deficiency<\/td>\n<\/tr>\n |
| 601443<\/td> | CFL2<\/td> | Nemaline myopathy 7<\/td>\n<\/tr>\n |
| 603855<\/td> | CFM1<\/td> | Meconium ileus in cystic fibrosis, susceptibility to<\/td>\n<\/tr>\n |
| 300383<\/td> | CFP<\/td> | Properdin deficiency, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 300712<\/td> | CFSS<\/td> | Craniofacioskeletal syndrome, X-linked dominant, X-linked recessive<\/td>\n<\/tr>\n |
| 300580<\/td> | CFTDX<\/td> | Myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant<\/td>\n<\/tr>\n |
| 602421<\/td> | CFTR<\/td> | Cystic fibrosis; Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens; Pancreatitis, hereditary; Bronchiectasis with or without elevated sweat chloride 1, modifier of; Hypertrypsinemia, neonatal<\/td>\n<\/tr>\n |
| 300082<\/td> | CGF1<\/td> | Social cognition, X-linked<\/td>\n<\/tr>\n |
| 616327<\/td> | CHAMP1<\/td> | Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features<\/td>\n<\/tr>\n |
| 118490<\/td> | CHAT<\/td> | Myasthenic syndrome, congenital, 6, presynaptic<\/td>\n<\/tr>\n |
| 615903<\/td> | CHCHD10<\/td> | Myopathy, isolated mitochondrial; Spinal muscular atrophy, Jokela type; Frontotemporal dementia and\/or amyotrophic lateral sclerosis 2<\/td>\n<\/tr>\n |
| 616244<\/td> | CHCHD2<\/td> | Parkinson disease 22<\/td>\n<\/tr>\n |
| 602118<\/td> | CHD1<\/td> | Pilarowski-Bjornsson syndrome<\/td>\n<\/tr>\n |
| 602119<\/td> | CHD2<\/td> | Developmental and epileptic encephalopathy 94<\/td>\n<\/tr>\n |
| 602120<\/td> | CHD3<\/td> | Snijders Blok-Campeau syndrome<\/td>\n<\/tr>\n |
| 603277<\/td> | CHD4<\/td> | Sifrim-Hitz-Weiss syndrome<\/td>\n<\/tr>\n |
| 610771<\/td> | CHD5<\/td> | Parenti-Mignot neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 608892<\/td> | CHD7<\/td> | Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome<\/td>\n<\/tr>\n |
| 610528<\/td> | CHD8<\/td> | Intellectual developmental disorder with autism and macrocephaly<\/td>\n<\/tr>\n |
| 607339<\/td> | CHDS1<\/td> | Coronary heart disease, susceptibility to<\/td>\n<\/tr>\n |
| 608316<\/td> | CHDS2<\/td> | Coronary heart disease, susceptibility to, 2<\/td>\n<\/tr>\n |
| 300464<\/td> | CHDS3<\/td> | Coronary heart disease, susceptibility to, 3<\/td>\n<\/tr>\n |
| 608318<\/td> | CHDS4<\/td> | Coronary heart disease, susceptibility to, 4<\/td>\n<\/tr>\n |
| 611139<\/td> | CHDS8<\/td> | Coronary heart disease, susceptibility to, 8<\/td>\n<\/tr>\n |
| 612030<\/td> | CHDS9<\/td> | Coronary heart disease, susceptibility to, 9<\/td>\n<\/tr>\n |
| 614954<\/td> | CHDT3<\/td> | Congenital heart defects, multiple types, 3<\/td>\n<\/tr>\n |
| 603078<\/td> | CHEK1<\/td> | Oocyte\/zygote\/embryo maturation arrest 21<\/td>\n<\/tr>\n |
| 604373<\/td> | CHEK2<\/td> | Prostate cancer, somatic; Osteosarcoma, somatic; Tumor predisposition syndrome 4, breast\/prostate\/colorectal<\/td>\n<\/tr>\n |
| 601525<\/td> | CHI3L1<\/td> | Asthma-related traits, susceptibility to, 7; Schizophrenia, susceptibility to<\/td>\n<\/tr>\n |
| 604332<\/td> | CHIC2<\/td> | Leukemia, acute myeloid, Somatic mutation<\/td>\n<\/tr>\n |
| 600031<\/td> | CHIT1<\/td> | Chitotriosidase deficiency<\/td>\n<\/tr>\n |
| 118491<\/td> | CHKA<\/td> | Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures<\/td>\n<\/tr>\n |
| 612395<\/td> | CHKB<\/td> | Muscular dystrophy, congenital, megaconial type<\/td>\n<\/tr>\n |
| 300390<\/td> | CHM<\/td> | Choroideremia, X-linked<\/td>\n<\/tr>\n |
| 164010<\/td> | CHMP1A<\/td> | Pontocerebellar hypoplasia, type 8<\/td>\n<\/tr>\n |
| 609512<\/td> | CHMP2B<\/td> | Frontotemporal dementia and\/or amyotrophic lateral sclerosis 7<\/td>\n<\/tr>\n |
| 610897<\/td> | CHMP4B<\/td> | Cataract 31, multiple types<\/td>\n<\/tr>\n |
| 118423<\/td> | CHN1<\/td> | Duane retraction syndrome 2<\/td>\n<\/tr>\n |
| 606988<\/td> | CHP1<\/td> | Spastic ataxia 9<\/td>\n<\/tr>\n |
| 300350<\/td> | CHRDL1<\/td> | Megalocornea 1, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 118494<\/td> | CHRM3<\/td> | Prune belly syndrome<\/td>\n<\/tr>\n |
| 100690<\/td> | CHRNA1<\/td> | Myasthenic syndrome, congenital, 1B, fast-channel; Myasthenic syndrome, congenital, 1A, slow-channel; Multiple pterygium syndrome, lethal type<\/td>\n<\/tr>\n |
| 118502<\/td> | CHRNA2<\/td> | Epilepsy, nocturnal frontal lobe, type 4<\/td>\n<\/tr>\n |
| 118503<\/td> | CHRNA3<\/td> | Lung cancer susceptibility 2; Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT<\/td>\n<\/tr>\n |
| 118504<\/td> | CHRNA4<\/td> | Nicotine addiction, susceptibility to; Epilepsy, nocturnal frontal lobe, 1<\/td>\n<\/tr>\n |
| 118505<\/td> | CHRNA5<\/td> | Nicotine dependence, susceptibility to; Lung cancer susceptibility 2<\/td>\n<\/tr>\n |
| 100710<\/td> | CHRNB1<\/td> | Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, 2A, slow-channel<\/td>\n<\/tr>\n |
| 118507<\/td> | CHRNB2<\/td> | Epilepsy, nocturnal frontal lobe, 3<\/td>\n<\/tr>\n |
| 100720<\/td> | CHRND<\/td> | Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 3B, fast-channel; Myasthenic syndrome, congenital, 3A, slow-channel<\/td>\n<\/tr>\n |
| 100725<\/td> | CHRNE<\/td> | Myasthenic syndrome, congenital, 4A, slow-channel; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, 4B, fast-channel<\/td>\n<\/tr>\n |
| 100730<\/td> | CHRNG<\/td> | Multiple pterygium syndrome, lethal type; Escobar syndrome<\/td>\n<\/tr>\n |
| 610128<\/td> | CHST11<\/td> | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits<\/td>\n<\/tr>\n |
| 608429<\/td> | CHST14<\/td> | Ehlers-Danlos syndrome, musculocontractural type 1<\/td>\n<\/tr>\n |
| 603799<\/td> | CHST3<\/td> | Spondyloepiphyseal dysplasia with congenital joint dislocations<\/td>\n<\/tr>\n |
| 605294<\/td> | CHST6<\/td> | Macular corneal dystrophy<\/td>\n<\/tr>\n |
| 608183<\/td> | CHSY1<\/td> | Temtamy preaxial brachydactyly syndrome<\/td>\n<\/tr>\n |
| 600664<\/td> | CHUK<\/td> | Popliteal pterygium syndrome, Bartsocas-Papas type 2; Cocoon syndrome<\/td>\n<\/tr>\n |
| 604333<\/td> | CIAO1<\/td> | Multiple mitochondrial dysfunctions syndrome 10<\/td>\n<\/tr>\n |
| 602293<\/td> | CIB1<\/td> | Epidermodysplasia verruciformis, susceptibility to, 3<\/td>\n<\/tr>\n |
| 605564<\/td> | CIB2<\/td> | Deafness 48; Usher syndrome, type IJ<\/td>\n<\/tr>\n |
| 617273<\/td> | CIBAR1<\/td> | Polydactyly, postaxial, type A9<\/td>\n<\/tr>\n |
| 612082<\/td> | CIC<\/td> | Intellectual developmental disorder 45<\/td>\n<\/tr>\n |
| 612120<\/td> | CIDEC<\/td> | Lipodystrophy, familial partial, type 5<\/td>\n<\/tr>\n |
| 613290<\/td> | CIHL<\/td> | Hearing loss, cisplatin-induced, susceptibility to<\/td>\n<\/tr>\n |
| 600005<\/td> | CIITA<\/td> | Rheumatoid arthritis, susceptibility to; MHC class II deficiency 1<\/td>\n<\/tr>\n |
| 608646<\/td> | CILD4<\/td> | Ciliary dyskinesia, primary, 4<\/td>\n<\/tr>\n |
| 612274<\/td> | CILD8<\/td> | Ciliary dyskinesia, primary, 8<\/td>\n<\/tr>\n |
| 612325<\/td> | CILK1<\/td> | Epilepsy, juvenile myoclonic, susceptibility to, 10; Endocrine-cerebroosteodysplasia<\/td>\n<\/tr>\n |
| 603489<\/td> | CILP<\/td> | Lumbar disc disease, susceptibility to<\/td>\n<\/tr>\n |
| 608447<\/td> | CIMT<\/td> | Carotid intimal medial thickness<\/td>\n<\/tr>\n |
| 611109<\/td> | CINN<\/td> | Cinnamon odor, pleasantness of<\/td>\n<\/tr>\n |
| 619703<\/td> | CIROP<\/td> | Heterotaxy, visceral, 12, autosomal<\/td>\n<\/tr>\n |
| 611507<\/td> | CISD2<\/td> | Wolfram syndrome 2<\/td>\n<\/tr>\n |
| 602441<\/td> | CISH<\/td> | Malaria, susceptibility to; Bacteremia, susceptibility to; Tuberculosis, susceptibility to<\/td>\n<\/tr>\n |
| 605629<\/td> | CIT<\/td> | Microcephaly 17, primary<\/td>\n<\/tr>\n |
| 602937<\/td> | CITED2<\/td> | Atrial septal defect 8; Ventricular septal defect 2<\/td>\n<\/tr>\n |
| 616174<\/td> | CKAP2L<\/td> | Filippi syndrome<\/td>\n<\/tr>\n |
| 123270<\/td> | CKBE<\/td> | Creatine kinase, brain type, ectopic expression of<\/td>\n<\/tr>\n |
| 608029<\/td> | CLA3<\/td> | Spinocerebellar ataxia 6<\/td>\n<\/tr>\n |
| 617539<\/td> | CLCC1<\/td> | Retinitis pigmentosa 32<\/td>\n<\/tr>\n |
| 607672<\/td> | CLCF1<\/td> | Cold-induced sweating syndrome 2<\/td>\n<\/tr>\n |
| 118425<\/td> | CLCN1<\/td> | Myotonia congenita, recessive; Myotonia congenita, dominant; Myotonia levior<\/td>\n<\/tr>\n |
| 600570<\/td> | CLCN2<\/td> | Leukoencephalopathy with ataxia; Hyperaldosteronism, familial, type II; Epilepsy, juvenile myoclonic, susceptibility to, 8; Epilepsy, juvenile absence, susceptibility to, 2; Epilepsy, idiopathic generalized, susceptibility to, 11<\/td>\n<\/tr>\n |
| 600580<\/td> | CLCN3<\/td> | Neurodevelopmental disorder with seizures and brain abnormalities; Neurodevelopmental disorder with hypotonia and brain abnormalities<\/td>\n<\/tr>\n |
| 302910<\/td> | CLCN4<\/td> | Raynaud-Claes syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 300008<\/td> | CLCN5<\/td> | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive; Hypophosphatemic rickets, X-linked recessive; Dent disease 1, X-linked recessive; Nephrolithiasis, type I, X-linked recessive<\/td>\n<\/tr>\n |
| 602726<\/td> | CLCN6<\/td> | Ceroid lipofuscinosis, neuronal, 15<\/td>\n<\/tr>\n |
| 602727<\/td> | CLCN7<\/td> | Hypopigmentation, organomegaly, and delayed myelination and development; Osteopetrosis 4; Osteopetrosis 2<\/td>\n<\/tr>\n |
| 602024<\/td> | CLCNKA<\/td> | Bartter syndrome, type 4b, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 602023<\/td> | CLCNKB<\/td> | Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 603718<\/td> | CLDN1<\/td> | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis<\/td>\n<\/tr>\n |
| 617579<\/td> | CLDN10<\/td> | HELIX syndrome<\/td>\n<\/tr>\n |
| 601326<\/td> | CLDN11<\/td> | Leukodystrophy, hypomyelinating, 22<\/td>\n<\/tr>\n |
| 605608<\/td> | CLDN14<\/td> | Deafness 29<\/td>\n<\/tr>\n |
| 603959<\/td> | CLDN16<\/td> | Hypomagnesemia 3, renal<\/td>\n<\/tr>\n |
| 610036<\/td> | CLDN19<\/td> | Hypomagnesemia 5, renal, with ocular involvement<\/td>\n<\/tr>\n |
| 300520<\/td> | CLDN2<\/td> | Azoospermia, obstructive, with nephrolithiasis, X-linked recessive<\/td>\n<\/tr>\n |
| 615799<\/td> | CLDN9<\/td> | Deafness 116<\/td>\n<\/tr>\n |
| 606782<\/td> | CLEC1A<\/td> | Aspergillosis, susceptibility to<\/td>\n<\/tr>\n |
| 187520<\/td> | CLEC3B<\/td> | Macular dystrophy, retinal, 4<\/td>\n<\/tr>\n |
| 606264<\/td> | CLEC7A<\/td> | Candidiasis, familial, 4; Aspergillosis, susceptibility to<\/td>\n<\/tr>\n |
| 607293<\/td> | CLIC5<\/td> | Deafness 103<\/td>\n<\/tr>\n |
| 609630<\/td> | CLLS1<\/td> | Leukemia, chronic lymphocytic, susceptibility to, 1<\/td>\n<\/tr>\n |
| 109543<\/td> | CLLS2<\/td> | Leukemia, chronic lymphocytic, susceptibility to, 2<\/td>\n<\/tr>\n |
| 612557<\/td> | CLLS3<\/td> | Leukemia, chronic lymphocytic, susceptibility to, 3<\/td>\n<\/tr>\n |
| 612558<\/td> | CLLS4<\/td> | Leukemia, chronic lymphocytic susceptibility to, 4<\/td>\n<\/tr>\n |
| 612559<\/td> | CLLS5<\/td> | Leukemia, chronic lymphocytic susceptibility to, 5<\/td>\n<\/tr>\n |
| 611693<\/td> | CLMP<\/td> | Congenital short bowel syndrome<\/td>\n<\/tr>\n |
| 607042<\/td> | CLN3<\/td> | Ceroid lipofuscinosis, neuronal, 3<\/td>\n<\/tr>\n |
| 608102<\/td> | CLN5<\/td> | Ceroid lipofuscinosis, neuronal, 5<\/td>\n<\/tr>\n |
| 606725<\/td> | CLN6<\/td> | Ceroid lipofuscinosis, neuronal, 6B (Kufs type); Ceroid lipofuscinosis, neuronal, 6A<\/td>\n<\/tr>\n |
| 607837<\/td> | CLN8<\/td> | Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; Ceroid lipofuscinosis, neuronal, 8<\/td>\n<\/tr>\n |
| 608757<\/td> | CLP1<\/td> | Pontocerebellar hypoplasia, type 10<\/td>\n<\/tr>\n |
| 616254<\/td> | CLPB<\/td> | Neutropenia, severe congenital, 9; 3-methylglutaconic aciduria, type VIIB; 3-methylglutaconic aciduria, type VIIA<\/td>\n<\/tr>\n |
| 601119<\/td> | CLPP<\/td> | Perrault syndrome 3<\/td>\n<\/tr>\n |
| 615611<\/td> | CLPX<\/td> | Protoporphyria, erythropoietic, 2<\/td>\n<\/tr>\n |
| 604595<\/td> | CLQTL1<\/td> | Cholesterol level QTL 1<\/td>\n<\/tr>\n |
| 610760<\/td> | CLQTL2<\/td> | Cholesterol level QTL 2<\/td>\n<\/tr>\n |
| 606397<\/td> | CLRN1<\/td> | Usher syndrome, type 3A; Retinitis pigmentosa 61<\/td>\n<\/tr>\n |
| 618988<\/td> | CLRN2<\/td> | Deafness 117<\/td>\n<\/tr>\n |
| 118955<\/td> | CLTC<\/td> | Intellectual developmental disorder 56<\/td>\n<\/tr>\n |
| 619564<\/td> | CLXN<\/td> | Ciliary dyskinesia, primary, 53<\/td>\n<\/tr>\n |
| 600884<\/td> | CMD1B<\/td> | Cardiomyopathy, dilated 1B<\/td>\n<\/tr>\n |
| 604288<\/td> | CMD1H<\/td> | Cardiomyopathy, dilated, 1H<\/td>\n<\/tr>\n |
| 605582<\/td> | CMD1K<\/td> | Cardiomyopathy, dilated, 1K<\/td>\n<\/tr>\n |
| 609915<\/td> | CMD1Q<\/td> | Cardiomyopathy, dilated, 1Q<\/td>\n<\/tr>\n |
| 614676<\/td> | CMH21<\/td> | Cardiomyopathy, hypertrophic, 21<\/td>\n<\/tr>\n |
| 155600<\/td> | CMM<\/td> | Melanoma, cutaneous malignant, 1<\/td>\n<\/tr>\n |
| 608035<\/td> | CMM4<\/td> | Melanoma, cutaneous malignant, 4<\/td>\n<\/tr>\n |
| 612263<\/td> | CMM7<\/td> | Melanoma, cutaneous malignant, 7<\/td>\n<\/tr>\n |
| 607731<\/td> | CMT2H<\/td> | Charcot-Marie-Tooth disease, axonal, type 2H<\/td>\n<\/tr>\n |
| 620378<\/td> | CMTD1A<\/td> | Charcot-Marie-Tooth disease, dominant intermediate A<\/td>\n<\/tr>\n |
| 616182<\/td> | CMTS<\/td> | Chronic mountain sickness, susceptibility to<\/td>\n<\/tr>\n |
| 302801<\/td> | CMTX2<\/td> | Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive<\/td>\n<\/tr>\n |
| 121400<\/td> | CNA1<\/td> | Cornea plana 1<\/td>\n<\/tr>\n |
| 116955<\/td> | CNBP<\/td> | Myotonic dystrophy 2<\/td>\n<\/tr>\n |
| 605244<\/td> | CNC2<\/td> | Carney complex, type II<\/td>\n<\/tr>\n |
| 304730<\/td> | CND<\/td> | Dermoids of cornea, X-linked<\/td>\n<\/tr>\n |
| 123825<\/td> | CNGA1<\/td> | Retinitis pigmentosa 49<\/td>\n<\/tr>\n |
| 600053<\/td> | CNGA3<\/td> | Achromatopsia 2<\/td>\n<\/tr>\n |
| 600724<\/td> | CNGB1<\/td> | Retinitis pigmentosa 45<\/td>\n<\/tr>\n |
| 605080<\/td> | CNGB3<\/td> | Achromatopsia 3<\/td>\n<\/tr>\n |
| 300724<\/td> | CNKSR2<\/td> | Intellectual developmental disorder, X-linked syndromic, Houge type, X-linked<\/td>\n<\/tr>\n |
| 607803<\/td> | CNNM2<\/td> | Hypomagnesemia 6, renal; Hypomagnesemia, seizures, and impaired intellectual development 1<\/td>\n<\/tr>\n |
| 607805<\/td> | CNNM4<\/td> | Jalili syndrome<\/td>\n<\/tr>\n |
| 604917<\/td> | CNOT1<\/td> | Vissers-Bodmer syndrome; Holoprosencephaly 12, with or without pancreatic agenesis<\/td>\n<\/tr>\n |
| 604909<\/td> | CNOT2<\/td> | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies<\/td>\n<\/tr>\n |
| 604910<\/td> | CNOT3<\/td> | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies<\/td>\n<\/tr>\n |
| 123830<\/td> | CNP<\/td> | Leukodystrophy, hypomyelinating, 20<\/td>\n<\/tr>\n |
| 610774<\/td> | CNPY3<\/td> | Developmental and epileptic encephalopathy 60<\/td>\n<\/tr>\n |
| 212200<\/td> | CNSN<\/td> | Carnosinemia<\/td>\n<\/tr>\n |
| 600016<\/td> | CNTN1<\/td> | Congenital myopathy 12<\/td>\n<\/tr>\n |
| 190197<\/td> | CNTN2<\/td> | Epilepsy, early-onset, 5, with or without developmental delay<\/td>\n<\/tr>\n |
| 602346<\/td> | CNTNAP1<\/td> | Lethal congenital contracture syndrome 7; Hypomyelinating neuropathy, congenital, 3<\/td>\n<\/tr>\n |
| 604569<\/td> | CNTNAP2<\/td> | Pitt-Hopkins like syndrome 1; Autism susceptibility 15<\/td>\n<\/tr>\n |
| 614775<\/td> | COA3<\/td> | Mitochondrial complex IV deficiency, nuclear type 14<\/td>\n<\/tr>\n |
| 613920<\/td> | COA5<\/td> | Mitochondrial complex IV, deficiency, nuclear type 9<\/td>\n<\/tr>\n |
| 614772<\/td> | COA6<\/td> | Mitochondrial complex IV deficiency, nuclear type 13<\/td>\n<\/tr>\n |
| 615623<\/td> | COA7<\/td> | Spinocerebellar ataxia, with axonal neuropathy 3<\/td>\n<\/tr>\n |
| 616003<\/td> | COA8<\/td> | Mitochondrial complex IV deficiency, nuclear type 17<\/td>\n<\/tr>\n |
| 609855<\/td> | COASY<\/td> | Pontocerebellar hypoplasia, type 12; Neurodegeneration with brain iron accumulation 6<\/td>\n<\/tr>\n |
| 603196<\/td> | COCH<\/td> | Deafness 9; Deafness 110<\/td>\n<\/tr>\n |
| 300085<\/td> | COD2<\/td> | Cone dystrophy, progressive X-linked, 2, X-linked<\/td>\n<\/tr>\n |
| 606973<\/td> | COG1<\/td> | Congenital disorder of glycosylation, type IIg<\/td>\n<\/tr>\n |
| 606974<\/td> | COG2<\/td> | Congenital disorder of glycosylation, type IIq<\/td>\n<\/tr>\n |
| 606975<\/td> | COG3<\/td> | Congenital disorder of glycosylation, type IIbb<\/td>\n<\/tr>\n |
| 606976<\/td> | COG4<\/td> | Congenital disorder of glycosylation, type IIj; Saul-Wilson syndrome<\/td>\n<\/tr>\n |
| 606821<\/td> | COG5<\/td> | Congenital disorder of glycosylation, type IIi<\/td>\n<\/tr>\n |
| 606977<\/td> | COG6<\/td> | Shaheen syndrome; Congenital disorder of glycosylation, type IIl<\/td>\n<\/tr>\n |
| 606978<\/td> | COG7<\/td> | Congenital disorder of glycosylation, type IIe<\/td>\n<\/tr>\n |
| 606979<\/td> | COG8<\/td> | Congenital disorder of glycosylation, type IIh<\/td>\n<\/tr>\n |
| 120110<\/td> | COL10A1<\/td> | Metaphyseal chondrodysplasia, Schmid type<\/td>\n<\/tr>\n |
| 120280<\/td> | COL11A1<\/td> | Fibrochondrogenesis 1; Stickler syndrome, type II; Marshall syndrome; Deafness 37; Lumbar disc herniation, susceptibility to<\/td>\n<\/tr>\n |
| 120290<\/td> | COL11A2<\/td> | Deafness 13; Otospondylomegaepiphyseal dysplasia; Fibrochondrogenesis 2; Deafness 53; Otospondylomegaepiphyseal dysplasia<\/td>\n<\/tr>\n |
| 120320<\/td> | COL12A1<\/td> | Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2<\/td>\n<\/tr>\n |
| 120350<\/td> | COL13A1<\/td> | Myasthenic syndrome, congenital, 19<\/td>\n<\/tr>\n |
| 113811<\/td> | COL17A1<\/td> | Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate<\/td>\n<\/tr>\n |
| 120328<\/td> | COL18A1<\/td> | Knobloch syndrome, type 1; Glaucoma, primary closed-angle<\/td>\n<\/tr>\n |
| 120150<\/td> | COL1A1<\/td> | Osteogenesis imperfecta, type II; Caffey disease; Ehlers-Danlos syndrome, arthrochalasia type, 1; Osteogenesis imperfecta, type I; Bone mineral density variation QTL, osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Osteogenesis imperfecta, type IV; Osteogenesis imperfecta, type III<\/td>\n<\/tr>\n |
| 120160<\/td> | COL1A2<\/td> | Osteogenesis imperfecta, type III; Osteoporosis, postmenopausal; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, type IV; Osteogenesis imperfecta, type II<\/td>\n<\/tr>\n |
| 610004<\/td> | COL25A1<\/td> | Fibrosis of extraocular muscles, congenital, 5<\/td>\n<\/tr>\n |
| 608461<\/td> | COL27A1<\/td> | Steel syndrome<\/td>\n<\/tr>\n |
| 120140<\/td> | COL2A1<\/td> | Vitreoretinopathy with phalangeal epiphyseal dysplasia; Czech dysplasia; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; SMED Strudwick type; Epiphyseal dysplasia, multiple, with myopia and deafness; SED congenita; Kniest dysplasia; Stickler syndrome, type I, nonsyndromic ocular; Osteoarthritis with mild chondrodysplasia; Stickler syndrome, type I; Platyspondylic skeletal dysplasia, Torrance type; Spondyloepiphyseal dysplasia, Stanescu type; Avascular necrosis of the femoral head; Legg-Calve-Perthes disease<\/td>\n<\/tr>\n |
| 120180<\/td> | COL3A1<\/td> | Ehlers-Danlos syndrome, vascular type; Polymicrogyria with or without vascular-type EDS<\/td>\n<\/tr>\n |
| 120130<\/td> | COL4A1<\/td> | Retinal arteries, tortuosity of; Hemorrhage, intracerebral, susceptibility to; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Microangiopathy and leukoencephalopathy, pontine; Brain small vessel disease with or without ocular anomalies<\/td>\n<\/tr>\n |
| 120090<\/td> | COL4A2<\/td> | Brain small vessel disease 2; Hemorrhage, intracerebral, susceptibility to<\/td>\n<\/tr>\n |
| 120070<\/td> | COL4A3<\/td> | Alport syndrome 3A; Hematuria, benign familial, 2; Alport syndrome 3B<\/td>\n<\/tr>\n |
| 120131<\/td> | COL4A4<\/td> | Hematuria, familial benign, 1; Alport syndrome 2<\/td>\n<\/tr>\n |
| 303630<\/td> | COL4A5<\/td> | Alport syndrome 1, X-linked, X-linked dominant<\/td>\n<\/tr>\n |
| 303631<\/td> | COL4A6<\/td> | Deafness, X-linked 6, X-linked recessive<\/td>\n<\/tr>\n |
| 120215<\/td> | COL5A1<\/td> | Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal<\/td>\n<\/tr>\n |
| 120190<\/td> | COL5A2<\/td> | Ehlers-Danlos syndrome, classic type, 2<\/td>\n<\/tr>\n |
| 120220<\/td> | COL6A1<\/td> | Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A<\/td>\n<\/tr>\n |
| 120240<\/td> | COL6A2<\/td> | Myosclerosis, congenital; Ullrich congenital muscular dystrophy 1B; Bethlem myopathy 1B<\/td>\n<\/tr>\n |
| 120250<\/td> | COL6A3<\/td> | Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C; Dystonia 27<\/td>\n<\/tr>\n |
| 120120<\/td> | COL7A1<\/td> | Nail disorder, nonsyndromic congenital, 8; Epidermolysis bullosa dystrophica, Bart type; Epidermolysis bullosa dystrophica inversa; Epidermolysis bullosa dystrophica; Epidermolysis bullosa, pretibial; Epidermolysis bullosa dystrophica; Transient bullous of the newborn; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa dystrophica, localisata variant<\/td>\n<\/tr>\n |
| 120252<\/td> | COL8A2<\/td> | Corneal dystrophy, posterior polymorphous 2; Corneal dystrophy, Fuchs endothelial, 1<\/td>\n<\/tr>\n |
| 120210<\/td> | COL9A1<\/td> | Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6<\/td>\n<\/tr>\n |
| 120260<\/td> | COL9A2<\/td> | Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type V<\/td>\n<\/tr>\n |
| 120270<\/td> | COL9A3<\/td> | Intervertebral disc disease, susceptibility to; Epiphyseal dysplasia, multiple, 3, with or without myopathy; Stickler syndrome, type VI<\/td>\n<\/tr>\n |
| 607620<\/td> | COLEC10<\/td> | 3MC syndrome 3<\/td>\n<\/tr>\n |
| 612502<\/td> | COLEC11<\/td> | 3MC syndrome 2<\/td>\n<\/tr>\n |
| 617531<\/td> | COLGALT1<\/td> | Brain small vessel disease 3<\/td>\n<\/tr>\n |
| 603033<\/td> | COLQ<\/td> | Myasthenic syndrome, congenital, 5<\/td>\n<\/tr>\n |
| 257550<\/td> | COMA<\/td> | Oculomotor apraxia, congenital, Cogan-type<\/td>\n<\/tr>\n |
| 600310<\/td> | COMP<\/td> | Pseudoachondroplasia; Carpal tunnel syndrome 2; Epiphyseal dysplasia, multiple, 1<\/td>\n<\/tr>\n |
| 116790<\/td> | COMT<\/td> | Schizophrenia, susceptibility to; Panic disorder, susceptibility to, Autosomal dominant<\/td>\n<\/tr>\n |
| 601924<\/td> | COPA<\/td> | Autoimmune interstitial lung, joint, and kidney disease<\/td>\n<\/tr>\n |
| 600959<\/td> | COPB1<\/td> | Baralle-Macken syndrome<\/td>\n<\/tr>\n |
| 606990<\/td> | COPB2<\/td> | Osteoporosis, childhood- or juvenile-onset, with developmental delay; Microcephaly 19, primary<\/td>\n<\/tr>\n |
| 606963<\/td> | COPD<\/td> | Pulmonary disease, chronic obstructive, severe early-onset<\/td>\n<\/tr>\n |
| 609825<\/td> | COQ2<\/td> | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1<\/td>\n<\/tr>\n |
| 612898<\/td> | COQ4<\/td> | Coenzyme Q10 deficiency, primary, 7; Spastic ataxia 10<\/td>\n<\/tr>\n |
| 616359<\/td> | COQ5<\/td> | Coenzyme Q10 deficiency, primary, 9<\/td>\n<\/tr>\n |
| 614647<\/td> | COQ6<\/td> | Coenzyme Q10 deficiency, primary, 6<\/td>\n<\/tr>\n |
| 601683<\/td> | COQ7<\/td> | Coenzyme Q10 deficiency, primary, 8; Neuronopathy, distal hereditary motor 9<\/td>\n<\/tr>\n |
| 606980<\/td> | COQ8A<\/td> | Coenzyme Q10 deficiency, primary, 4<\/td>\n<\/tr>\n |
| 615567<\/td> | COQ8B<\/td> | Nephrotic syndrome, type 9<\/td>\n<\/tr>\n |
| 612837<\/td> | COQ9<\/td> | Coenzyme Q10 deficiency, primary, 5<\/td>\n<\/tr>\n |
| 600624<\/td> | CORD1<\/td> | Cone-rod retinal dystrophy-1<\/td>\n<\/tr>\n |
| 615163<\/td> | CORD17<\/td> | Cone-rod dystrophy 17<\/td>\n<\/tr>\n |
| 605549<\/td> | CORD8<\/td> | Cone-rod dystrophy 8<\/td>\n<\/tr>\n |
| 605236<\/td> | CORIN<\/td> | Cardiomyopathy, familial hypertrophic, 30, atrial; Preeclampsia\/eclampsia 5<\/td>\n<\/tr>\n |
| 605000<\/td> | CORO1A<\/td> | Immunodeficiency 8<\/td>\n<\/tr>\n |
| 602125<\/td> | COX10<\/td> | Mitochondrial complex IV deficiency, nuclear type 3<\/td>\n<\/tr>\n |
| 603648<\/td> | COX11<\/td> | Mitochondrial complex IV deficiency, nuclear type 23<\/td>\n<\/tr>\n |
| 614478<\/td> | COX14<\/td> | Mitochondrial complex IV deficiency, nuclear type 10<\/td>\n<\/tr>\n |
| 603646<\/td> | COX15<\/td> | Mitochondrial complex IV deficiency, nuclear type 6<\/td>\n<\/tr>\n |
| 618064<\/td> | COX16<\/td> | Mitochondrial complex IV deficiency, nuclear type 22<\/td>\n<\/tr>\n |
| 614698<\/td> | COX20<\/td> | Mitochondrial complex IV deficiency, nuclear type 11<\/td>\n<\/tr>\n |
| 123864<\/td> | COX4I1<\/td> | Mitochondrial complex IV deficiency, nuclear type 16<\/td>\n<\/tr>\n |
| 607976<\/td> | COX4I2<\/td> | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis<\/td>\n<\/tr>\n |
| 603773<\/td> | COX5A<\/td> | Mitochondrial complex IV deficiency, nuclear type 20<\/td>\n<\/tr>\n |
| 602072<\/td> | COX6A1<\/td> | Charcot-Marie-Tooth disease, recessive intermediate D<\/td>\n<\/tr>\n |
| 602009<\/td> | COX6A2<\/td> | Mitochondrial complex IV deficiency, nuclear type 18<\/td>\n<\/tr>\n |
| 124089<\/td> | COX6B1<\/td> | Mitochondrial complex IV deficiency, nuclear type 7<\/td>\n<\/tr>\n |
| 300885<\/td> | COX7B<\/td> | Linear skin defects with multiple congenital anomalies 2, X-linked dominant<\/td>\n<\/tr>\n |
| 123870<\/td> | COX8A<\/td> | Mitochondrial complex IV deficiency, nuclear type 15<\/td>\n<\/tr>\n |
| 117700<\/td> | CP<\/td> | Aceruloplasminemia<\/td>\n<\/tr>\n |
| 609562<\/td> | CPA6<\/td> | Febrile seizures, familial, 11; Epilepsy, familial temporal lobe, 5<\/td>\n<\/tr>\n |
| 608841<\/td> | CPAMD8<\/td> | Anterior segment dysgenesis 8<\/td>\n<\/tr>\n |
| 605388<\/td> | CPAT1<\/td> | Cerebral palsy, ataxic<\/td>\n<\/tr>\n |
| 114855<\/td> | CPE<\/td> | BDV syndrome<\/td>\n<\/tr>\n |
| 614571<\/td> | CPLANE1<\/td> | Orofaciodigital syndrome VI; Joubert syndrome 17<\/td>\n<\/tr>\n |
| 605032<\/td> | CPLX1<\/td> | Developmental and epileptic encephalopathy 63<\/td>\n<\/tr>\n |
| 603103<\/td> | CPN1<\/td> | Carboxypeptidase N deficiency<\/td>\n<\/tr>\n |
| 612732<\/td> | CPOX<\/td> | Coproporphyria; Harderoporphyria<\/td>\n<\/tr>\n |
| 611920<\/td> | CPROTQ<\/td> | C-reactive protein QTL<\/td>\n<\/tr>\n |
| 608307<\/td> | CPS1<\/td> | Carbamoylphosphate synthetase I deficiency; Pulmonary hypertension, neonatal, susceptibility to<\/td>\n<\/tr>\n |
| 606027<\/td> | CPSF1<\/td> | Myopia 27<\/td>\n<\/tr>\n |
| 606029<\/td> | CPSF3<\/td> | Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures<\/td>\n<\/tr>\n |
| 600528<\/td> | CPT1A<\/td> | CPT deficiency, hepatic, type IA<\/td>\n<\/tr>\n |
| 608846<\/td> | CPT1C<\/td> | Spastic paraplegia 73<\/td>\n<\/tr>\n |
| 600650<\/td> | CPT2<\/td> | Encephalopathy, acute, infection-induced, 4, susceptibility to; CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced<\/td>\n<\/tr>\n |
| 120620<\/td> | CR1<\/td> | Blood group, Knops system; Malaria, severe, resistance to<\/td>\n<\/tr>\n |
| 120650<\/td> | CR2<\/td> | Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 7<\/td>\n<\/tr>\n |
| 603454<\/td> | CRADD<\/td> | Intellectual developmental disorder 34, with variant lissencephaly<\/td>\n<\/tr>\n |
| 600184<\/td> | CRAT<\/td> | Neurodegeneration with brain iron accumulation 8<\/td>\n<\/tr>\n |
| 604210<\/td> | CRB1<\/td> | Leber congenital amaurosis 8; Retinitis pigmentosa-12; Pigmented paravenous chorioretinal atrophy<\/td>\n<\/tr>\n |
| 609720<\/td> | CRB2<\/td> | Focal segmental glomerulosclerosis 9; Ventriculomegaly with cystic kidney disease<\/td>\n<\/tr>\n |
| 609262<\/td> | CRBN<\/td> | Intellectual developmental disorder 2<\/td>\n<\/tr>\n |
| 607135<\/td> | CRCL<\/td> | Creatinine clearance QTL<\/td>\n<\/tr>\n |
| 612592<\/td> | CRCS11<\/td> | Colorectal cancer, susceptibility to, 11<\/td>\n<\/tr>\n |
| 611469<\/td> | CRCS2<\/td> | Colorectal cancer, susceptibility to, 2<\/td>\n<\/tr>\n |
| 612230<\/td> | CRCS5<\/td> | Colorectal cancer, susceptibility to, 5<\/td>\n<\/tr>\n |
| 612231<\/td> | CRCS6<\/td> | Colorectal cancer, susceptibility to, 6<\/td>\n<\/tr>\n |
| 612232<\/td> | CRCS7<\/td> | Colorectal cancer, susceptibility to, 7<\/td>\n<\/tr>\n |
| 612589<\/td> | CRCS8<\/td> | Colorectal cancer, susceptibility to, 8<\/td>\n<\/tr>\n |
| 612590<\/td> | CRCS9<\/td> | Colorectal cancer, susceptibility to, 9<\/td>\n<\/tr>\n |
| 123810<\/td> | CREB1<\/td> | Histiocytoma, angiomatoid fibrous, somatic<\/td>\n<\/tr>\n |
| 616215<\/td> | CREB3L1<\/td> | Osteogenesis imperfecta, type XVI<\/td>\n<\/tr>\n |
| 611998<\/td> | CREB3L3<\/td> | Hypertriglyceridemia 2<\/td>\n<\/tr>\n |
| 600140<\/td> | CREBBP<\/td> | Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome 1<\/td>\n<\/tr>\n |
| 607170<\/td> | CRELD1<\/td> | Atrioventricular septal defect, partial, with heterotaxy syndrome; Jeffries-Lakhani neurodevelopmental syndrome; Atrioventricular septal defect, susceptibility to, 2<\/td>\n<\/tr>\n |
| 604594<\/td> | CRIPT<\/td> | Rothmund-Thomson syndrome, type 3<\/td>\n<\/tr>\n |
| 604237<\/td> | CRLF1<\/td> | Cold-induced sweating syndrome 1<\/td>\n<\/tr>\n |
| 608188<\/td> | CRLS1<\/td> | Combined oxidative phosphorylation deficiency 57<\/td>\n<\/tr>\n |
| 614631<\/td> | CRPPA<\/td> | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7<\/td>\n<\/tr>\n |
| 600593<\/td> | CRSA<\/td> | Craniosynostosis, Adelaide type, Autosomal dominant<\/td>\n<\/tr>\n |
| 605497<\/td> | CRTAP<\/td> | Osteogenesis imperfecta, type VII<\/td>\n<\/tr>\n |
| 607536<\/td> | CRTC1<\/td> | Mucoepidermoid salivary gland carcinoma<\/td>\n<\/tr>\n |
| 602225<\/td> | CRX<\/td> | Leber congenital amaurosis 7; Cone-rod retinal dystrophy-2<\/td>\n<\/tr>\n |
| 601933<\/td> | CRY1<\/td> | Delayed sleep phase disorder, susceptibility to<\/td>\n<\/tr>\n |
| 123580<\/td> | CRYAA<\/td> | Cataract 9, multiple types<\/td>\n<\/tr>\n |
| 123590<\/td> | CRYAB<\/td> | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Myopathy, myofibrillar, 2; Cataract 16, multiple types; Cardiomyopathy, dilated, 1II<\/td>\n<\/tr>\n |
| 123610<\/td> | CRYBA1<\/td> | Cataract 10, multiple types<\/td>\n<\/tr>\n |
| 600836<\/td> | CRYBA2<\/td> | Cataract 42<\/td>\n<\/tr>\n |
| 123631<\/td> | CRYBA4<\/td> | Cataract 23<\/td>\n<\/tr>\n |
| 600929<\/td> | CRYBB1<\/td> | Cataract 17, multiple types<\/td>\n<\/tr>\n |
| 123620<\/td> | CRYBB2<\/td> | Cataract 3, multiple types<\/td>\n<\/tr>\n |
| 123630<\/td> | CRYBB3<\/td> | Cataract 22<\/td>\n<\/tr>\n |
| 123670<\/td> | CRYGB<\/td> | Cataract 39, multiple types<\/td>\n<\/tr>\n |
| 123680<\/td> | CRYGC<\/td> | Cataract 2, multiple types<\/td>\n<\/tr>\n |
| 123690<\/td> | CRYGD<\/td> | Cataract 4, multiple types<\/td>\n<\/tr>\n |
| 123730<\/td> | CRYGS<\/td> | Cataract 20, multiple types<\/td>\n<\/tr>\n |
| 123740<\/td> | CRYM<\/td> | Deafness 40<\/td>\n<\/tr>\n |
| 164770<\/td> | CSF1R<\/td> | Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopathy, diffuse hereditary, with spheroids 1<\/td>\n<\/tr>\n |
| 306250<\/td> | CSF2RA<\/td> | Surfactant metabolism dysfunction, pulmonary, 4, Pseudoautosomal recessive<\/td>\n<\/tr>\n |
| 138981<\/td> | CSF2RB<\/td> | Surfactant metabolism dysfunction, pulmonary, 5<\/td>\n<\/tr>\n |
| 138971<\/td> | CSF3R<\/td> | Neutropenia, severe congenital, 7; Neutrophilia, hereditary<\/td>\n<\/tr>\n |
| 616615<\/td> | CSGALNACT1<\/td> | Skeletal dysplasia, mild, with joint laxity and advanced bone age<\/td>\n<\/tr>\n |
| 150200<\/td> | CSH1<\/td> | Placental lactogen deficiency<\/td>\n<\/tr>\n |
| 600864<\/td> | CSNK1D<\/td> | Advanced sleep-phase syndrome, familial, 2<\/td>\n<\/tr>\n |
| 115440<\/td> | CSNK2A1<\/td> | Okur-Chung neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 115441<\/td> | CSNK2B<\/td> | Poirier-Bienvenu neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 611654<\/td> | CSPP1<\/td> | Joubert syndrome 21<\/td>\n<\/tr>\n |
| 600824<\/td> | CSRP3<\/td> | Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12<\/td>\n<\/tr>\n |
| 604312<\/td> | CST3<\/td> | Macular degeneration, age-related, 11; Cerebral amyloid angiopathy<\/td>\n<\/tr>\n |
| 601891<\/td> | CST6<\/td> | Ectodermal dysplasia 15, hypohidrotic\/hair type<\/td>\n<\/tr>\n |
| 184600<\/td> | CSTA<\/td> | Peeling skin syndrome 4<\/td>\n<\/tr>\n |
| 601145<\/td> | CSTB<\/td> | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)<\/td>\n<\/tr>\n |
| 300907<\/td> | CSTF2<\/td> | Intellectual developmental disorder, X-linked 113, X-linked recessive<\/td>\n<\/tr>\n |
| 301105<\/td> | CT55<\/td> | Spermatogenic failure, X-linked, 7, X-linked recessive<\/td>\n<\/tr>\n |
| 115650<\/td> | CTAA1<\/td> | Cataract 32, multiple types<\/td>\n<\/tr>\n |
| 601202<\/td> | CTAA2<\/td> | Cataract 24, anterior polar<\/td>\n<\/tr>\n |
| 602618<\/td> | CTBP1<\/td> | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome<\/td>\n<\/tr>\n |
| 613129<\/td> | CTC1<\/td> | Cerebroretinal microangiopathy with calcifications and cysts<\/td>\n<\/tr>\n |
| 604167<\/td> | CTCF<\/td> | Intellectual developmental disorder 21<\/td>\n<\/tr>\n |
| 604927<\/td> | CTDP1<\/td> | Congenital cataracts, facial dysmorphism, and neuropathy<\/td>\n<\/tr>\n |
| 612862<\/td> | CTEPH1<\/td> | Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to<\/td>\n<\/tr>\n |
| 607657<\/td> | CTH<\/td> | Cystathioninuria<\/td>\n<\/tr>\n |
| 610635<\/td> | CTHRC1<\/td> | Barrett esophagus\/esophageal adenocarcinoma<\/td>\n<\/tr>\n |
| 123890<\/td> | CTLA4<\/td> | Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation; Diabetes mellitus, insulin-dependent, 12; Celiac disease, susceptibility to, 3; Hashimoto thyroiditis; Systemic lupus erythematosus, susceptibility to<\/td>\n<\/tr>\n |
| 116805<\/td> | CTNNA1<\/td> | Macular dystrophy, patterned, 2<\/td>\n<\/tr>\n |
| 114025<\/td> | CTNNA2<\/td> | Cortical dysplasia, complex, with other brain malformations 9<\/td>\n<\/tr>\n |
| 607667<\/td> | CTNNA3<\/td> | Arrhythmogenic right ventricular dysplasia 13<\/td>\n<\/tr>\n |
| 116806<\/td> | CTNNB1<\/td> | Exudative vitreoretinopathy 7; Pilomatricoma, somatic; Colorectal cancer, somatic; Neurodevelopmental disorder with spastic diplegia and visual defects; Medulloblastoma, somatic; Ovarian cancer, somatic; Hepatocellular carcinoma, somatic<\/td>\n<\/tr>\n |
| 611537<\/td> | CTNNBL1<\/td> | Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias<\/td>\n<\/tr>\n |
| 601045<\/td> | CTNND1<\/td> | Blepharocheilodontic syndrome 2<\/td>\n<\/tr>\n |
| 606272<\/td> | CTNS<\/td> | Cystinosis, nephropathic; Cystinosis, ocular nonnephropathic; Cystinosis, late-onset juvenile or adolescent nephropathic; Cystinosis, atypical nephropathic<\/td>\n<\/tr>\n |
| 605749<\/td> | CTPL1<\/td> | Cataract 26, multiple types<\/td>\n<\/tr>\n |
| 123860<\/td> | CTPS1<\/td> | Immunodeficiency 24<\/td>\n<\/tr>\n |
| 601405<\/td> | CTRC<\/td> | Pancreatitis, chronic, susceptibility to<\/td>\n<\/tr>\n |
| 605728<\/td> | CTRCT25<\/td> | Cataract 25<\/td>\n<\/tr>\n |
| 607304<\/td> | CTRCT27<\/td> | Cataract 27, nuclear progressive<\/td>\n<\/tr>\n |
| 609026<\/td> | CTRCT28<\/td> | Cataract 28, age-related cortical, susceptibility to<\/td>\n<\/tr>\n |
| 115800<\/td> | CTRCT29<\/td> | Cataract 29, coralliform<\/td>\n<\/tr>\n |
| 609376<\/td> | CTRCT35<\/td> | Cataract 35, congenital nuclear<\/td>\n<\/tr>\n |
| 614422<\/td> | CTRCT37<\/td> | Cataract 37<\/td>\n<\/tr>\n |
| 613111<\/td> | CTSA<\/td> | Galactosialidosis<\/td>\n<\/tr>\n |
| 116810<\/td> | CTSB<\/td> | Keratolytic winter erythema<\/td>\n<\/tr>\n |
| 602365<\/td> | CTSC<\/td> | Periodontitis 1, juvenile; Haim-Munk syndrome; Papillon-Lefevre syndrome<\/td>\n<\/tr>\n |
| 116840<\/td> | CTSD<\/td> | Ceroid lipofuscinosis, neuronal, 10<\/td>\n<\/tr>\n |
| 603539<\/td> | CTSF<\/td> | Ceroid lipofuscinosis, neuronal, 13 (Kufs type)<\/td>\n<\/tr>\n |
| 601105<\/td> | CTSK<\/td> | Pycnodysostosis<\/td>\n<\/tr>\n |
| 617057<\/td> | CTU2<\/td> | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome<\/td>\n<\/tr>\n |
| 602997<\/td> | CUBN<\/td> | Proteinuria, chronic benign; Imerslund-Grasbeck syndrome 1<\/td>\n<\/tr>\n |
| 603136<\/td> | CUL3<\/td> | Neurodevelopmental disorder with or without autism or seizures; Pseudohypoaldosteronism, type IIE<\/td>\n<\/tr>\n |
| 300304<\/td> | CUL4B<\/td> | Intellectual developmental disorder, X-linked syndromic, Cabezas type, X-linked recessive<\/td>\n<\/tr>\n |
| 609577<\/td> | CUL7<\/td> | 3-M syndrome 1<\/td>\n<\/tr>\n |
| 116896<\/td> | CUX1<\/td> | Global developmental delay with or without impaired intellectual development<\/td>\n<\/tr>\n |
| 610648<\/td> | CUX2<\/td> | Developmental and epileptic encephalopathy 67<\/td>\n<\/tr>\n |
| 300471<\/td> | CVMRF<\/td> | Cubitus valgus with impaired intellectual development and unusual facies, X-linked recessive<\/td>\n<\/tr>\n |
| 617170<\/td> | CWC27<\/td> | Retinitis pigmentosa with or without skeletal anomalies<\/td>\n<\/tr>\n |
| 616120<\/td> | CWF19L1<\/td> | Spinocerebellar ataxia 17<\/td>\n<\/tr>\n |
| 601470<\/td> | CX3CR1<\/td> | Rapid progression to AIDS from HIV1 infection; Macular degeneration, age-related, 12; Coronary artery disease, resistance to<\/td>\n<\/tr>\n |
| 600835<\/td> | CXCL12<\/td> | AIDS, resistance to<\/td>\n<\/tr>\n |
| 146929<\/td> | CXCR1<\/td> | AIDS, slow progression to<\/td>\n<\/tr>\n |
| 146928<\/td> | CXCR2<\/td> | WHIM syndrome 2<\/td>\n<\/tr>\n |
| 162643<\/td> | CXCR4<\/td> | WHIM syndrome 1; Myelokathexis, isolated<\/td>\n<\/tr>\n |
| 600019<\/td> | CYB561<\/td> | Orthostatic hypotension 2<\/td>\n<\/tr>\n |
| 613218<\/td> | CYB5A<\/td> | Methemoglobinemia and ambiguous genitalia<\/td>\n<\/tr>\n |
| 613213<\/td> | CYB5R3<\/td> | Methemoglobinemia, type I; Methemoglobinemia, type II<\/td>\n<\/tr>\n |
| 608508<\/td> | CYBA<\/td> | Chronic granulomatous disease 4<\/td>\n<\/tr>\n |
| 300481<\/td> | CYBB<\/td> | Immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive; Chronic granulomatous disease, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 618334<\/td> | CYBC1<\/td> | Chronic granulomatous disease 5<\/td>\n<\/tr>\n |
| 123980<\/td> | CYC1<\/td> | Mitochondrial complex III deficiency, nuclear type 6<\/td>\n<\/tr>\n |
| 123970<\/td> | CYCS<\/td> | Thrombocytopenia 4<\/td>\n<\/tr>\n |
| 606323<\/td> | CYFIP2<\/td> | Developmental and epileptic encephalopathy 65<\/td>\n<\/tr>\n |
| 300768<\/td> | CYLC1<\/td> | Spermatogenic failure, X-linked, 8, susceptibility to, X-linked<\/td>\n<\/tr>\n |
| 605018<\/td> | CYLD<\/td> | Brooke-Spiegler syndrome; Cylindromatosis, familial; Trichoepithelioma, multiple familial, 1; Frontotemporal dementia and\/or amyotrophic lateral sclerosis 8<\/td>\n<\/tr>\n |
| 153880<\/td> | CYMD<\/td> | Macular dystrophy, dominant cystoid<\/td>\n<\/tr>\n |
| 118485<\/td> | CYP11A1<\/td> | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete<\/td>\n<\/tr>\n |
| 610613<\/td> | CYP11B1<\/td> | Aldosteronism, glucocorticoid-remediable; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency<\/td>\n<\/tr>\n |
| 124080<\/td> | CYP11B2<\/td> | Hypoaldosteronism, congenital, due to CMO I deficiency; Aldosterone to renin ratio raised; Low renin hypertension, susceptibility to; Hypoaldosteronism, congenital, due to CMO II deficiency<\/td>\n<\/tr>\n |
| 609300<\/td> | CYP17A1<\/td> | 17,20-lyase deficiency, isolated; 17-alpha-hydroxylase\/17,20-lyase deficiency<\/td>\n<\/tr>\n |
| 107910<\/td> | CYP19A1<\/td> | Aromatase deficiency; Aromatase excess syndrome<\/td>\n<\/tr>\n |
| 601771<\/td> | CYP1B1<\/td> | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; Anterior segment dysgenesis 6, multiple subtypes<\/td>\n<\/tr>\n |
| 613815<\/td> | CYP21A2<\/td> | Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency<\/td>\n<\/tr>\n |
| 126065<\/td> | CYP24A1<\/td> | Hypercalcemia, infantile, 1<\/td>\n<\/tr>\n |
| 605207<\/td> | CYP26B1<\/td> | Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies<\/td>\n<\/tr>\n |
| 608428<\/td> | CYP26C1<\/td> | Focal facial dermal dysplasia 4<\/td>\n<\/tr>\n |
| 606530<\/td> | CYP27A1<\/td> | Cerebrotendinous xanthomatosis<\/td>\n<\/tr>\n |
| 609506<\/td> | CYP27B1<\/td> | Vitamin D-dependent rickets, type I<\/td>\n<\/tr>\n |
| 122720<\/td> | CYP2A6<\/td> | Lung cancer, resistance to, Somatic mutation; Coumarin resistance; Nicotine addiction, protection from<\/td>\n<\/tr>\n |
| 123930<\/td> | CYP2B6<\/td> | Efavirenz central nervous system toxicity, susceptibility to; Efavirenz, poor metabolism of<\/td>\n<\/tr>\n |
| 124020<\/td> | CYP2C19<\/td> | Proguanil poor metabolizer; Mephenytoin poor metabolizer; Clopidogrel, impaired responsiveness to; Omeprazole poor metabolizer<\/td>\n<\/tr>\n |
| 601129<\/td> | CYP2C8<\/td> | Drug metabolism, altered, CYP2C8-related<\/td>\n<\/tr>\n |
| 601130<\/td> | CYP2C9<\/td> | Warfarin sensitivity; Tolbutamide poor metabolizer<\/td>\n<\/tr>\n |
| 124030<\/td> | CYP2D6<\/td> | Codeine sensitivity; Debrisoquine sensitivity<\/td>\n<\/tr>\n |
| 608713<\/td> | CYP2R1<\/td> | Rickets due to defect in vitamin D 25-hydroxylation deficiency<\/td>\n<\/tr>\n |
| 610670<\/td> | CYP2U1<\/td> | Spastic paraplegia 56<\/td>\n<\/tr>\n |
| 124010<\/td> | CYP3A4<\/td> | Vitamin D-dependent rickets, type 3<\/td>\n<\/tr>\n |
| 605325<\/td> | CYP3A5<\/td> | Hypertension, salt-sensitive essential, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 611495<\/td> | CYP4F22<\/td> | Ichthyosis, congenital 5<\/td>\n<\/tr>\n |
| 608614<\/td> | CYP4V2<\/td> | Bietti crystalline corneoretinal dystrophy<\/td>\n<\/tr>\n |
| 603711<\/td> | CYP7B1<\/td> | Spastic paraplegia 5A; Bile acid synthesis defect, congenital, 3<\/td>\n<\/tr>\n |
| 609186<\/td> | D2HGDH<\/td> | D-2-hydroxyglutaric aciduria<\/td>\n<\/tr>\n |
| 606627<\/td> | DAAM2<\/td> | Nephrotic syndrome, type 24<\/td>\n<\/tr>\n |
| 603448<\/td> | DAB1<\/td> | Spinocerebellar ataxia 37<\/td>\n<\/tr>\n |
| 607861<\/td> | DACT1<\/td> | Townes-Brocks syndrome 2<\/td>\n<\/tr>\n |
| 128239<\/td> | DAG1<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9<\/td>\n<\/tr>\n |
| 614015<\/td> | DAGLA<\/td> | Neuroocular syndrome 2, paroxysmal type<\/td>\n<\/tr>\n |
| 618904<\/td> | DALRD3<\/td> | Developmental and epileptic encephalopathy 86<\/td>\n<\/tr>\n |
| 607408<\/td> | DAOA<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 603084<\/td> | DARS1<\/td> | Hypomyelination with brainstem and spinal cord involvement and leg spasticity<\/td>\n<\/tr>\n |
| 610956<\/td> | DARS2<\/td> | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation<\/td>\n<\/tr>\n |
| 620279<\/td> | DAW1<\/td> | Ciliary dyskinesia, primary, 52<\/td>\n<\/tr>\n |
| 601486<\/td> | DAZL<\/td> | Spermatogenic failure, susceptibility to<\/td>\n<\/tr>\n |
| 606129<\/td> | DBA2<\/td> | Diamond-Blackfan anemia 2<\/td>\n<\/tr>\n |
| 609312<\/td> | DBH<\/td> | Orthostatic hypotension 1, due to DBH deficiency<\/td>\n<\/tr>\n |
| 607024<\/td> | DBR1<\/td> | Xerosis and growth failure with immune and pulmonary dysfunction syndrome; Encephalitis, acute, infection (viral)-induced, susceptibility to, 11<\/td>\n<\/tr>\n |
| 248610<\/td> | DBT<\/td> | Maple syrup urine disease, type II<\/td>\n<\/tr>\n |
| 612515<\/td> | DCAF17<\/td> | Woodhouse-Sakati syndrome<\/td>\n<\/tr>\n |
| 615820<\/td> | DCAF8<\/td> | Giant axonal neuropathy 2<\/td>\n<\/tr>\n |
| 120470<\/td> | DCC<\/td> | Mirror movements 1 and\/or agenesis of the corpus callosum; Esophageal carcinoma, somatic; Colorectal cancer, somatic; Gaze palsy, familial horizontal, with progressive scoliosis, 2<\/td>\n<\/tr>\n |
| 605755<\/td> | DCDC2<\/td> | Nephronophthisis 19; Deafness 66; Sclerosing cholangitis, neonatal<\/td>\n<\/tr>\n |
| 603057<\/td> | DCHS1<\/td> | Mitral valve prolapse 2; Van Maldergem syndrome 1<\/td>\n<\/tr>\n |
| 609683<\/td> | DCLRE1B<\/td> | Dyskeratosis congenita 8<\/td>\n<\/tr>\n |
| 605988<\/td> | DCLRE1C<\/td> | Severe combined immunodeficiency, Athabascan type; Omenn syndrome<\/td>\n<\/tr>\n |
| 125255<\/td> | DCN<\/td> | Corneal dystrophy, congenital stromal<\/td>\n<\/tr>\n |
| 610534<\/td> | DCPS<\/td> | Al-Raqad syndrome<\/td>\n<\/tr>\n |
| 191275<\/td> | DCT<\/td> | Oculocutaneous albinism, type VIII<\/td>\n<\/tr>\n |
| 601143<\/td> | DCTN1<\/td> | Perry syndrome; Amyotrophic lateral sclerosis, susceptibility to; Neuronopathy, distal hereditary motor 14<\/td>\n<\/tr>\n |
| 300121<\/td> | DCX<\/td> | Subcortical laminal heterotopia, X-linked, X-linked; Lissencephaly, X-linked, X-linked<\/td>\n<\/tr>\n |
| 608347<\/td> | DCXR<\/td> | Pentosuria<\/td>\n<\/tr>\n |
| 600045<\/td> | DDB1<\/td> | White-Kernohan syndrome<\/td>\n<\/tr>\n |
| 600811<\/td> | DDB2<\/td> | Xeroderma pigmentosum, group E, DDB-negative subtype<\/td>\n<\/tr>\n |
| 107930<\/td> | DDC<\/td> | Aromatic L-amino acid decarboxylase deficiency<\/td>\n<\/tr>\n |
| 615674<\/td> | DDD3<\/td> | Dowling-Degos disease 3<\/td>\n<\/tr>\n |
| 615612<\/td> | DDH2<\/td> | Developmental dysplasia of the hip 2<\/td>\n<\/tr>\n |
| 614603<\/td> | DDHD1<\/td> | Spastic paraplegia 28<\/td>\n<\/tr>\n |
| 615003<\/td> | DDHD2<\/td> | Spastic paraplegia 54<\/td>\n<\/tr>\n |
| 602202<\/td> | DDOST<\/td> | Congenital disorder of glycosylation, type Ir<\/td>\n<\/tr>\n |
| 191311<\/td> | DDR2<\/td> | Warburg-Cinotti syndrome; Spondylometaepiphyseal dysplasia, short limb-hand type<\/td>\n<\/tr>\n |
| 616177<\/td> | DDRGK1<\/td> | Spondyloepimetaphyseal dysplasia, Shohat type<\/td>\n<\/tr>\n |
| 601150<\/td> | DDX11<\/td> | Warsaw breakage syndrome<\/td>\n<\/tr>\n |
| 300160<\/td> | DDX3X<\/td> | Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, X-linked dominant, X-linked recessive<\/td>\n<\/tr>\n |
| 608170<\/td> | DDX41<\/td> | Myeloproliferative\/lymphoproliferative neoplasms, familial (multiple types), susceptibility to<\/td>\n<\/tr>\n |
| 615464<\/td> | DDX59<\/td> | Orofaciodigital syndrome V<\/td>\n<\/tr>\n |
| 600326<\/td> | DDX6<\/td> | Intellectual developmental disorder with impaired language and dysmorphic facies<\/td>\n<\/tr>\n |
| 602635<\/td> | DEAF1<\/td> | Vulto-van Silfout-de Vries syndrome; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures<\/td>\n<\/tr>\n |
| 610094<\/td> | DEF6<\/td> | Immunodeficiency 87 and autoimmunity<\/td>\n<\/tr>\n |
| 615843<\/td> | DEGS1<\/td> | Leukodystrophy, hypomyelinating, 18<\/td>\n<\/tr>\n |
| 125264<\/td> | DEK<\/td> | Leukemia, acute nonlymphocytic<\/td>\n<\/tr>\n |
| 617278<\/td> | DENND5A<\/td> | Developmental and epileptic encephalopathy 49<\/td>\n<\/tr>\n |
| 614191<\/td> | DEPDC5<\/td> | Epilepsy, familial focal, with variable foci 1; Developmental and epileptic encephalopathy 111<\/td>\n<\/tr>\n |
| 125660<\/td> | DES<\/td> | Scapuloperoneal syndrome, neurogenic, Kaeser type; Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1<\/td>\n<\/tr>\n |
| 300719<\/td> | DFCTRPS<\/td> | Deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive<\/td>\n<\/tr>\n |
| 603964<\/td> | DFNA16<\/td> | Deafness 16<\/td>\n<\/tr>\n |
| 606012<\/td> | DFNA18<\/td> | Deafness 18<\/td>\n<\/tr>\n |
| 606282<\/td> | DFNA24<\/td> | Deafness 24<\/td>\n<\/tr>\n |
| 606451<\/td> | DFNA30<\/td> | Deafness 30<\/td>\n<\/tr>\n |
| 608645<\/td> | DFNA31<\/td> | Deafness 31<\/td>\n<\/tr>\n |
| 608394<\/td> | DFNA43<\/td> | Deafness 43<\/td>\n<\/tr>\n |
| 608652<\/td> | DFNA47<\/td> | Deafness 47<\/td>\n<\/tr>\n |
| 608372<\/td> | DFNA49<\/td> | Deafness 49<\/td>\n<\/tr>\n |
| 609965<\/td> | DFNA53<\/td> | Deafness 53<\/td>\n<\/tr>\n |
| 615649<\/td> | DFNA54<\/td> | Deafness 54<\/td>\n<\/tr>\n |
| 612642<\/td> | DFNA59<\/td> | Deafness 59<\/td>\n<\/tr>\n |
| 603098<\/td> | DFNB13<\/td> | Deafness 13<\/td>\n<\/tr>\n |
| 603678<\/td> | DFNB14<\/td> | Deafness 14<\/td>\n<\/tr>\n |
| 603010<\/td> | DFNB17<\/td> | Deafness 17<\/td>\n<\/tr>\n |
| 604060<\/td> | DFNB20<\/td> | Deafness 20<\/td>\n<\/tr>\n |
| 605818<\/td> | DFNB27<\/td> | Deafness 27<\/td>\n<\/tr>\n |
| 607239<\/td> | DFNB33<\/td> | Deafness 33<\/td>\n<\/tr>\n |
| 608219<\/td> | DFNB38<\/td> | Deafness 38<\/td>\n<\/tr>\n |
| 608264<\/td> | DFNB40<\/td> | Deafness 40<\/td>\n<\/tr>\n |
| 612433<\/td> | DFNB45<\/td> | Deafness 45<\/td>\n<\/tr>\n |
| 609647<\/td> | DFNB46<\/td> | Deafness 46<\/td>\n<\/tr>\n |
| 609946<\/td> | DFNB47<\/td> | Deafness, neurosensory 47<\/td>\n<\/tr>\n |
| 600792<\/td> | DFNB5<\/td> | Deafness 5<\/td>\n<\/tr>\n |
| 609941<\/td> | DFNB51<\/td> | Deafness 51<\/td>\n<\/tr>\n |
| 609952<\/td> | DFNB55<\/td> | Deafness 55<\/td>\n<\/tr>\n |
| 610143<\/td> | DFNB62<\/td> | Deafness 62<\/td>\n<\/tr>\n |
| 610248<\/td> | DFNB65<\/td> | Deafness 65<\/td>\n<\/tr>\n |
| 612789<\/td> | DFNB71<\/td> | Deafness 71<\/td>\n<\/tr>\n |
| 613685<\/td> | DFNB83<\/td> | Deafness 83<\/td>\n<\/tr>\n |
| 613392<\/td> | DFNB85<\/td> | Deafness 85<\/td>\n<\/tr>\n |
| 614414<\/td> | DFNB96<\/td> | Deafness 96<\/td>\n<\/tr>\n |
| 300030<\/td> | DFNX3<\/td> | Deafness, X-linked 3, X-linked<\/td>\n<\/tr>\n |
| 400043<\/td> | DFNY1<\/td> | Deafness, Y-linked 1, Y-linked<\/td>\n<\/tr>\n |
| 604900<\/td> | DGAT1<\/td> | Diarrhea 7, protein-losing enteropathy type<\/td>\n<\/tr>\n |
| 601440<\/td> | DGKE<\/td> | Hemolytic uremic syndrome, atypical, susceptibility to, 7; Nephrotic syndrome, type 7<\/td>\n<\/tr>\n |
| 601362<\/td> | DGS2<\/td> | DiGeorge syndrome\/velocardiofacial syndrome complex-2<\/td>\n<\/tr>\n |
| 601465<\/td> | DGUOK<\/td> | Portal hypertension, noncirrhotic, 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions 4; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)<\/td>\n<\/tr>\n |
| 606418<\/td> | DHCR24<\/td> | Desmosterolosis<\/td>\n<\/tr>\n |
| 602858<\/td> | DHCR7<\/td> | Smith-Lemli-Opitz syndrome<\/td>\n<\/tr>\n |
| 608172<\/td> | DHDDS<\/td> | Developmental delay and seizures with or without movement abnormalities; Congenital disorder of glycosylation, type 1bb; Retinitis pigmentosa 59<\/td>\n<\/tr>\n |
| 126060<\/td> | DHFR<\/td> | Megaloblastic anemia due to dihydrofolate reductase deficiency<\/td>\n<\/tr>\n |
| 605423<\/td> | DHH<\/td> | 46XY gonadal dysgenesis with minifascicular neuropathy; 46XY sex reversal 7<\/td>\n<\/tr>\n |
| 126064<\/td> | DHODH<\/td> | Miller syndrome<\/td>\n<\/tr>\n |
| 600944<\/td> | DHPS<\/td> | Neurodevelopmental disorder with seizures and speech and walking impairment<\/td>\n<\/tr>\n |
| 614984<\/td> | DHTKD1<\/td> | Charcot-Marie-Tooth disease, axonal, type 2Q; Alpha-aminoadipic and alpha-ketoadipic aciduria<\/td>\n<\/tr>\n |
| 603405<\/td> | DHX16<\/td> | Neuromuscular disease and ocular or auditory anomalies with or without seizures<\/td>\n<\/tr>\n |
| 616423<\/td> | DHX30<\/td> | Neurodevelopmental disorder with variable motor and speech impairment<\/td>\n<\/tr>\n |
| 617362<\/td> | DHX37<\/td> | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; 46XY sex reversal 11<\/td>\n<\/tr>\n |
| 605584<\/td> | DHX38<\/td> | Retinitis pigmentosa 84<\/td>\n<\/tr>\n |
| 605219<\/td> | DIABLO<\/td> | Deafness 64<\/td>\n<\/tr>\n |
| 602121<\/td> | DIAPH1<\/td> | Deafness 1, with or without thrombocytopenia; Seizures, cortical blindness, microcephaly syndrome<\/td>\n<\/tr>\n |
| 300108<\/td> | DIAPH2<\/td> | Premature ovarian failure 2A, X-linked dominant<\/td>\n<\/tr>\n |
| 614567<\/td> | DIAPH3<\/td> | Auditory neuropathy 1<\/td>\n<\/tr>\n |
| 606241<\/td> | DICER1<\/td> | Pleuropulmonary blastoma; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; GLOW syndrome, somatic mosaic; Rhabdomyosarcoma, embryonal, 2<\/td>\n<\/tr>\n |
| 142340<\/td> | DIH1<\/td> | Diaphragmatic hernia 1, Multifactorial<\/td>\n<\/tr>\n |
| 222400<\/td> | DIH2<\/td> | Diaphragmatic hernia 2<\/td>\n<\/tr>\n |
| 147892<\/td> | DIO1<\/td> | Thyroid hormone metabolism, abnormal, 2<\/td>\n<\/tr>\n |
| 611379<\/td> | DIP2B<\/td> | Intellectual developmental disorder, FRA12A type<\/td>\n<\/tr>\n |
| 614184<\/td> | DIS3L2<\/td> | Perlman syndrome<\/td>\n<\/tr>\n |
| 605210<\/td> | DISC1<\/td> | Schizophrenia 9, susceptibility to<\/td>\n<\/tr>\n |
| 606271<\/td> | DISC2<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 127600<\/td> | DKBI<\/td> | Dyskeratosis, hereditary benign intraepithelial<\/td>\n<\/tr>\n |
| 300126<\/td> | DKC1<\/td> | Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1, X-linked dominant; Dyskeratosis congenita, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 608770<\/td> | DLAT<\/td> | Pyruvate dehydrogenase E2 deficiency<\/td>\n<\/tr>\n |
| 604258<\/td> | DLC1<\/td> | Colorectal cancer, somatic<\/td>\n<\/tr>\n |
| 238331<\/td> | DLD<\/td> | Dihydrolipoamide dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 300189<\/td> | DLG3<\/td> | Intellectual developmental disorder, X-linked 90, X-linked recessive<\/td>\n<\/tr>\n |
| 602887<\/td> | DLG4<\/td> | Intellectual developmental disorder 62<\/td>\n<\/tr>\n |
| 604090<\/td> | DLG5<\/td> | Yuksel-Vogel-Bauser syndrome<\/td>\n<\/tr>\n |
| 606582<\/td> | DLL1<\/td> | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures<\/td>\n<\/tr>\n |
| 602768<\/td> | DLL3<\/td> | Spondylocostal dysostosis 1<\/td>\n<\/tr>\n |
| 605185<\/td> | DLL4<\/td> | Adams-Oliver syndrome 6<\/td>\n<\/tr>\n |
| 126063<\/td> | DLST<\/td> | Pheochromocytoma\/paraganglioma syndrome 7<\/td>\n<\/tr>\n |
| 600525<\/td> | DLX3<\/td> | Trichodontoosseous syndrome; Amelogenesis imperfecta, type IV<\/td>\n<\/tr>\n |
| 601911<\/td> | DLX4<\/td> | Orofacial cleft 15<\/td>\n<\/tr>\n |
| 600028<\/td> | DLX5<\/td> | Split-hand\/foot malformation 1; Split-hand\/foot malformation 1 with sensorineural hearing loss<\/td>\n<\/tr>\n |
| 300377<\/td> | DMD<\/td> | Becker muscular dystrophy, X-linked recessive; Cardiomyopathy, dilated, 3B, X-linked; Duchenne muscular dystrophy, X-linked recessive<\/td>\n<\/tr>\n |
| 605849<\/td> | DMGDH<\/td> | Dimethylglycine dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 600980<\/td> | DMP1<\/td> | Hypophosphatemic rickets, AR<\/td>\n<\/tr>\n |
| 605377<\/td> | DMPK<\/td> | Myotonic dystrophy 1<\/td>\n<\/tr>\n |
| 612186<\/td> | DMXL2<\/td> | Developmental and epileptic encephalopathy 81; Deafness 71; Polyendocrine-polyneuropathy syndrome<\/td>\n<\/tr>\n |
| 601810<\/td> | DNA2<\/td> | Progressive external ophthalmoplegia with mitochondrial DNA deletions 6; Rothmund-Thomson syndrome, type 4; Seckel syndrome 8<\/td>\n<\/tr>\n |
| 613190<\/td> | DNAAF1<\/td> | Ciliary dyskinesia, primary, 13<\/td>\n<\/tr>\n |
| 614930<\/td> | DNAAF11<\/td> | Ciliary dyskinesia, primary, 19<\/td>\n<\/tr>\n |
| 612517<\/td> | DNAAF2<\/td> | Ciliary dyskinesia, primary, 10<\/td>\n<\/tr>\n |
| 614566<\/td> | DNAAF3<\/td> | Ciliary dyskinesia, primary, 2<\/td>\n<\/tr>\n |
| 608706<\/td> | DNAAF4<\/td> | Dyslexia, susceptibility to, 1; Ciliary dyskinesia, primary, 25<\/td>\n<\/tr>\n |
| 614864<\/td> | DNAAF5<\/td> | Ciliary dyskinesia, primary, 18<\/td>\n<\/tr>\n |
| 300933<\/td> | DNAAF6<\/td> | Ciliary dyskinesia, primary, 36, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 603332<\/td> | DNAH1<\/td> | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37<\/td>\n<\/tr>\n |
| 605884<\/td> | DNAH10<\/td> | Spermatogenic failure 56<\/td>\n<\/tr>\n |
| 603339<\/td> | DNAH11<\/td> | Ciliary dyskinesia, primary, 7, with or without situs inversus<\/td>\n<\/tr>\n |
| 610063<\/td> | DNAH17<\/td> | Spermatogenic failure 39<\/td>\n<\/tr>\n |
| 603333<\/td> | DNAH2<\/td> | Spermatogenic failure 45<\/td>\n<\/tr>\n |
| 603335<\/td> | DNAH5<\/td> | Ciliary dyskinesia, primary, 3, with or without situs inversus<\/td>\n<\/tr>\n |
| 610061<\/td> | DNAH7<\/td> | Ciliary dyskinesia, primary, 50<\/td>\n<\/tr>\n |
| 603337<\/td> | DNAH8<\/td> | Spermatogenic failure 46<\/td>\n<\/tr>\n |
| 603330<\/td> | DNAH9<\/td> | Ciliary dyskinesia, primary, 40<\/td>\n<\/tr>\n |
| 604366<\/td> | DNAI1<\/td> | Ciliary dyskinesia, primary, 1, with or without situs inversus<\/td>\n<\/tr>\n |
| 605483<\/td> | DNAI2<\/td> | Ciliary dyskinesia, primary, 9, with or without situs inversus<\/td>\n<\/tr>\n |
| 611341<\/td> | DNAJB11<\/td> | Polycystic kidney disease 6 with or without polycystic liver disease<\/td>\n<\/tr>\n |
| 610263<\/td> | DNAJB13<\/td> | Ciliary dyskinesia, primary, 34<\/td>\n<\/tr>\n |
| 604139<\/td> | DNAJB2<\/td> | Neuronopathy, distal hereditary motor 5<\/td>\n<\/tr>\n |
| 611327<\/td> | DNAJB4<\/td> | Congenital myopathy 21 with early respiratory failure<\/td>\n<\/tr>\n |
| 611332<\/td> | DNAJB6<\/td> | Muscular dystrophy, limb-girdle 1<\/td>\n<\/tr>\n |
| 606060<\/td> | DNAJC12<\/td> | Hyperphenylalaninemia, mild, non-BH4-deficient<\/td>\n<\/tr>\n |
| 608977<\/td> | DNAJC19<\/td> | 3-methylglutaconic aciduria, type V<\/td>\n<\/tr>\n |
| 617048<\/td> | DNAJC21<\/td> | Bone marrow failure syndrome 3<\/td>\n<\/tr>\n |
| 601184<\/td> | DNAJC3<\/td> | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus<\/td>\n<\/tr>\n |
| 618202<\/td> | DNAJC30<\/td> | Leber-like hereditary optic neuropathy 1<\/td>\n<\/tr>\n |
| 611203<\/td> | DNAJC5<\/td> | Ceroid lipofuscinosis, neuronal, 4 (Kufs type)<\/td>\n<\/tr>\n |
| 608375<\/td> | DNAJC6<\/td> | Parkinson disease 19a, juvenile-onset; Parkinson disease 19b, early-onset<\/td>\n<\/tr>\n |
| 610062<\/td> | DNAL1<\/td> | Ciliary dyskinesia, primary, 16<\/td>\n<\/tr>\n |
| 610565<\/td> | DNAL4<\/td> | Mirror movements 3<\/td>\n<\/tr>\n |
| 602135<\/td> | DNALI1<\/td> | Spermatogenic failure 83<\/td>\n<\/tr>\n |
| 125505<\/td> | DNASE1<\/td> | Systemic lupus erythematosus, susceptibility to<\/td>\n<\/tr>\n |
| 602244<\/td> | DNASE1L3<\/td> | Systemic lupus erythematosus 16<\/td>\n<\/tr>\n |
| 126350<\/td> | DNASE2<\/td> | Autoinflammatory-pancytopenia syndrome<\/td>\n<\/tr>\n |
| 617277<\/td> | DNHD1<\/td> | Spermatogenic failure 65<\/td>\n<\/tr>\n |
| 602377<\/td> | DNM1<\/td> | Developmental and epileptic encephalopathy 31B; Developmental and epileptic encephalopathy 31A<\/td>\n<\/tr>\n |
| 603850<\/td> | DNM1L<\/td> | Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1<\/td>\n<\/tr>\n |
| 602378<\/td> | DNM2<\/td> | Centronuclear myopathy 1; Charcot-Marie-Tooth disease, axonal type 2M; Charcot-Marie-Tooth disease, dominant intermediate B; Lethal congenital contracture syndrome 5<\/td>\n<\/tr>\n |
| 611282<\/td> | DNMBP<\/td> | Cataract 48<\/td>\n<\/tr>\n |
| 126375<\/td> | DNMT1<\/td> | Neuropathy, hereditary sensory, type IE; Cerebellar ataxia, deafness, and narcolepsy<\/td>\n<\/tr>\n |
| 602769<\/td> | DNMT3A<\/td> | Tatton-Brown-Rahman syndrome; Acute myeloid leukemia, somatic; Heyn-Sproul-Jackson syndrome<\/td>\n<\/tr>\n |
| 602900<\/td> | DNMT3B<\/td> | Immunodeficiency-centromeric instability-facial anomalies syndrome 1; Facioscapulohumeral muscular dystrophy 4, digenic, Digenic dominant<\/td>\n<\/tr>\n |
| 300681<\/td> | DOCK11<\/td> | Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 603122<\/td> | DOCK2<\/td> | Immunodeficiency 40<\/td>\n<\/tr>\n |
| 603123<\/td> | DOCK3<\/td> | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia<\/td>\n<\/tr>\n |
| 614194<\/td> | DOCK6<\/td> | Adams-Oliver syndrome 2<\/td>\n<\/tr>\n |
| 615730<\/td> | DOCK7<\/td> | Developmental and epileptic encephalopathy 23<\/td>\n<\/tr>\n |
| 611432<\/td> | DOCK8<\/td> | Hyper-IgE syndrome 2, with recurrent infections<\/td>\n<\/tr>\n |
| 611262<\/td> | DOHH<\/td> | Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment<\/td>\n<\/tr>\n |
| 610285<\/td> | DOK7<\/td> | Fetal akinesia deformation sequence 3; Myasthenic syndrome, congenital, 10<\/td>\n<\/tr>\n |
| 610746<\/td> | DOLK<\/td> | Congenital disorder of glycosylation, type Im<\/td>\n<\/tr>\n |
| 611428<\/td> | DONSON<\/td> | Microcephaly, short stature, and limb abnormalities; Microcephaly-micromelia syndrome<\/td>\n<\/tr>\n |
| 191350<\/td> | DPAGT1<\/td> | Myasthenic syndrome, congenital, 13, with tubular aggregates; Congenital disorder of glycosylation, type Ij<\/td>\n<\/tr>\n |
| 601671<\/td> | DPF2<\/td> | Coffin-Siris syndrome 7<\/td>\n<\/tr>\n |
| 603527<\/td> | DPH1<\/td> | Developmental delay with short stature, dysmorphic facial features, and sparse hair<\/td>\n<\/tr>\n |
| 603456<\/td> | DPH2<\/td> | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2<\/td>\n<\/tr>\n |
| 611075<\/td> | DPH5<\/td> | Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties<\/td>\n<\/tr>\n |
| 603503<\/td> | DPM1<\/td> | Congenital disorder of glycosylation, type Ie<\/td>\n<\/tr>\n |
| 603564<\/td> | DPM2<\/td> | Congenital disorder of glycosylation, type Iu<\/td>\n<\/tr>\n |
| 605951<\/td> | DPM3<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15<\/td>\n<\/tr>\n |
| 126141<\/td> | DPP6<\/td> | Intellectual developmental disorder 33; Ventricular fibrillation, paroxysmal familial, 2<\/td>\n<\/tr>\n |
| 608258<\/td> | DPP9<\/td> | Hatipoglu immunodeficiency syndrome<\/td>\n<\/tr>\n |
| 613893<\/td> | DPY19L2<\/td> | Spermatogenic failure 9<\/td>\n<\/tr>\n |
| 612779<\/td> | DPYD<\/td> | Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity<\/td>\n<\/tr>\n |
| 613326<\/td> | DPYS<\/td> | Dihydropyrimidinuria<\/td>\n<\/tr>\n |
| 608383<\/td> | DPYSL5<\/td> | Ritscher-Schinzel syndrome 4<\/td>\n<\/tr>\n |
| 613360<\/td> | DRAM2<\/td> | Cone-rod dystrophy 21<\/td>\n<\/tr>\n |
| 615288<\/td> | DRC1<\/td> | Spermatogenic failure 80; Ciliary dyskinesia, primary, 21<\/td>\n<\/tr>\n |
| 126451<\/td> | DRD3<\/td> | Essential tremor, hereditary, 1; Schizophrenia, susceptibility to<\/td>\n<\/tr>\n |
| 126452<\/td> | DRD4<\/td> | Attention deficit-hyperactivity disorder; Autonomic nervous system dysfunction<\/td>\n<\/tr>\n |
| 126453<\/td> | DRD5<\/td> | Blepharospasm, primary benign; Attention deficit-hyperactivity disorder, susceptibility to<\/td>\n<\/tr>\n |
| 603952<\/td> | DRG1<\/td> | Tan-Almurshedi syndrome<\/td>\n<\/tr>\n |
| 125645<\/td> | DSC2<\/td> | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11<\/td>\n<\/tr>\n |
| 600271<\/td> | DSC3<\/td> | Hypotrichosis and recurrent skin vesicles<\/td>\n<\/tr>\n |
| 605942<\/td> | DSE<\/td> | Ehlers-Danlos syndrome, musculocontractural type 2<\/td>\n<\/tr>\n |
| 125670<\/td> | DSG1<\/td> | Keratosis palmoplantaris striata I, AD; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE<\/td>\n<\/tr>\n |
| 125671<\/td> | DSG2<\/td> | Cardiomyopathy, dilated, 1BB; Arrhythmogenic right ventricular dysplasia 10<\/td>\n<\/tr>\n |
| 169615<\/td> | DSG3<\/td> | Blistering, acantholytic, of oral and laryngeal mucosa<\/td>\n<\/tr>\n |
| 607892<\/td> | DSG4<\/td> | Hypotrichosis 6<\/td>\n<\/tr>\n |
| 125647<\/td> | DSP<\/td> | Arrhythmogenic right ventricular dysplasia 8; Epidermolysis bullosa, lethal acantholytic; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Cardiomyopathy, dilated, with woolly hair and keratoderma<\/td>\n<\/tr>\n |
| 125485<\/td> | DSPP<\/td> | Dentinogenesis imperfecta, Shields type III; Dentinogenesis imperfecta, Shields type II; Dentin dysplasia, type II; Deafness 39, with dentinogenesis<\/td>\n<\/tr>\n |
| 113810<\/td> | DST<\/td> | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency<\/td>\n<\/tr>\n |
| 612666<\/td> | DSTYK<\/td> | Spastic paraplegia 23; Congenital anomalies of kidney and urinary tract 1<\/td>\n<\/tr>\n |
| 601239<\/td> | DTNA<\/td> | Left ventricular noncompaction 1, with or without congenital heart defects<\/td>\n<\/tr>\n |
| 607145<\/td> | DTNBP1<\/td> | Hermansky-Pudlak syndrome 7<\/td>\n<\/tr>\n |
| 188345<\/td> | DTYMK<\/td> | Neurodegeneration, childhood-onset, with progressive microcephaly<\/td>\n<\/tr>\n |
| 612715<\/td> | DUH2<\/td> | Dyschromatosis universalis hereditaria 2<\/td>\n<\/tr>\n |
| 606759<\/td> | DUOX2<\/td> | Thyroid dyshormonogenesis 6<\/td>\n<\/tr>\n |
| 612772<\/td> | DUOXA2<\/td> | Thyroid dyshormonogenesis 5<\/td>\n<\/tr>\n |
| 126900<\/td> | DUPC1<\/td> | Dupuytren contracture 1<\/td>\n<\/tr>\n |
| 126800<\/td> | DURS1<\/td> | Duane retraction syndrome 1<\/td>\n<\/tr>\n |
| 602748<\/td> | DUSP6<\/td> | Hypogonadotropic hypogonadism 19 with or without anosmia<\/td>\n<\/tr>\n |
| 601266<\/td> | DUT<\/td> | Bone marrow failure and diabetes mellitus syndrome<\/td>\n<\/tr>\n |
| 601365<\/td> | DVL1<\/td> | Robinow syndrome 2<\/td>\n<\/tr>\n |
| 601368<\/td> | DVL3<\/td> | Robinow syndrome 3<\/td>\n<\/tr>\n |
| 220200<\/td> | DWS<\/td> | Dandy-Walker syndrome, Isolated cases<\/td>\n<\/tr>\n |
| 607461<\/td> | DYM<\/td> | Smith-McCort dysplasia; Dyggve-Melchior-Clausen disease<\/td>\n<\/tr>\n |
| 600112<\/td> | DYNC1H1<\/td> | Charcot-Marie-Tooth disease, axonal, type 2O; Spinal muscular atrophy, lower extremity-predominant 1, AD; Cortical dysplasia, complex, with other brain malformations 13<\/td>\n<\/tr>\n |
| 603331<\/td> | DYNC1I2<\/td> | Neurodevelopmental disorder with microcephaly and structural brain anomalies<\/td>\n<\/tr>\n |
| 603297<\/td> | DYNC2H1<\/td> | Short-rib thoracic dysplasia 3 with or without polydactyly, Digenic recessive<\/td>\n<\/tr>\n |
| 615462<\/td> | DYNC2I1<\/td> | Short-rib thoracic dysplasia 8 with or without polydactyly<\/td>\n<\/tr>\n |
| 613363<\/td> | DYNC2I2<\/td> | Short-rib thoracic dysplasia 11 with or without polydactyly<\/td>\n<\/tr>\n |
| 617083<\/td> | DYNC2LI1<\/td> | Short-rib thoracic dysplasia 15 with polydactyly<\/td>\n<\/tr>\n |
| 617353<\/td> | DYNLT2B<\/td> | Short-rib thoracic dysplasia 17 with or without polydactyly<\/td>\n<\/tr>\n |
| 600855<\/td> | DYRK1A<\/td> | Intellectual developmental disorder 7<\/td>\n<\/tr>\n |
| 604556<\/td> | DYRK1B<\/td> | Abdominal obesity-metabolic syndrome 3<\/td>\n<\/tr>\n |
| 603009<\/td> | DYSF<\/td> | Muscular dystrophy, limb-girdle 2; Miyoshi muscular dystrophy 1; Myopathy, distal, with anterior tibial onset<\/td>\n<\/tr>\n |
| 607671<\/td> | DYT13<\/td> | Dystonia 13, torsion<\/td>\n<\/tr>\n |
| 607488<\/td> | DYT15<\/td> | Dystonia-15, myoclonic<\/td>\n<\/tr>\n |
| 612406<\/td> | DYT17<\/td> | Dystonia-17, primary torsion<\/td>\n<\/tr>\n |
| 614588<\/td> | DYT21<\/td> | Dystonia 21<\/td>\n<\/tr>\n |
| 614860<\/td> | DYT23<\/td> | Dystonia 23<\/td>\n<\/tr>\n |
| 602124<\/td> | DYT7<\/td> | Dystonia-7, torsion<\/td>\n<\/tr>\n |
| 604254<\/td> | DYX3<\/td> | Dyslexia, susceptibility to, 3<\/td>\n<\/tr>\n |
| 606896<\/td> | DYX5<\/td> | Dyslexia, susceptibility to, 5<\/td>\n<\/tr>\n |
| 606616<\/td> | DYX6<\/td> | Dyslexia, susceptibility to, 6<\/td>\n<\/tr>\n |
| 608995<\/td> | DYX8<\/td> | Dyslexia, susceptibility to, 8, Multifactorial<\/td>\n<\/tr>\n |
| 300509<\/td> | DYX9<\/td> | Dyslexia, susceptibility to, 9<\/td>\n<\/tr>\n |
| 608671<\/td> | DZIP1<\/td> | Spermatogenic failure 47; Mitral valve prolapse 3<\/td>\n<\/tr>\n |
| 617570<\/td> | DZIP1L<\/td> | Polycystic kidney disease 5<\/td>\n<\/tr>\n |
| 606554<\/td> | EA3<\/td> | Episodic ataxia, type 3<\/td>\n<\/tr>\n |
| 611907<\/td> | EA7<\/td> | Episodic ataxia, type 7<\/td>\n<\/tr>\n |
| 616055<\/td> | EA8<\/td> | Episodic ataxia, type 8<\/td>\n<\/tr>\n |
| 612799<\/td> | EARS2<\/td> | Combined oxidative phosphorylation deficiency 12<\/td>\n<\/tr>\n |
| 607407<\/td> | EBF3<\/td> | Hypotonia, ataxia, and delayed development syndrome<\/td>\n<\/tr>\n |
| 300205<\/td> | EBP<\/td> | MEND syndrome, X-linked recessive; Chondrodysplasia punctata, X-linked dominant, X-linked dominant<\/td>\n<\/tr>\n |
| 600131<\/td> | ECA1<\/td> | Epilepsy, childhood absence, 1<\/td>\n<\/tr>\n |
| 600423<\/td> | ECE1<\/td> | Hypertension, essential, susceptibility to, Multifactorial; Hirschsprung disease, cardiac defects, and autonomic dysfunction<\/td>\n<\/tr>\n |
| 605896<\/td> | ECEL1<\/td> | Arthrogryposis, distal, type 5D<\/td>\n<\/tr>\n |
| 602292<\/td> | ECHS1<\/td> | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency<\/td>\n<\/tr>\n |
| 602201<\/td> | ECM1<\/td> | Urbach-Wiethe disease<\/td>\n<\/tr>\n |
| 117100<\/td> | ECT<\/td> | Centrotemporal epilepsy, Isolated cases<\/td>\n<\/tr>\n |
| 614927<\/td> | ECTD5<\/td> | Ectodermal dysplasia 5, hair\/nail type<\/td>\n<\/tr>\n |
| 614928<\/td> | ECTD6<\/td> | Ectodermal dysplasia 6, hair\/nail type<\/td>\n<\/tr>\n |
| 602401<\/td> | ECTD8<\/td> | Ectodermal dysplasia 8, hair\/tooth\/nail type<\/td>\n<\/tr>\n |
| 300451<\/td> | EDA<\/td> | Tooth agenesis, selective, X-linked 1, X-linked dominant; Ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 604095<\/td> | EDAR<\/td> | Hair morphology 1, hair thickness; Ectodermal dysplasia 10A, hypohidrotic\/hair\/nail type; Ectodermal dysplasia 10B, hypohidrotic\/hair\/tooth type<\/td>\n<\/tr>\n |
| 606603<\/td> | EDARADD<\/td> | Ectodermal dysplasia 11B, hypohidrotic\/hair\/tooth type; Ectodermal dysplasia 11A, hypohidrotic\/hair\/tooth type<\/td>\n<\/tr>\n |
| 609842<\/td> | EDC3<\/td> | Intellectual developmental disorder 50<\/td>\n<\/tr>\n |
| 610214<\/td> | EDEM3<\/td> | Congenital disorder of glycosylation, type IIv<\/td>\n<\/tr>\n |
| 131240<\/td> | EDN1<\/td> | Question mark ears, isolated; Auriculocondylar syndrome 3<\/td>\n<\/tr>\n |
| 131242<\/td> | EDN3<\/td> | Waardenburg syndrome, type 4B; Hirschsprung disease, susceptibility to, 4<\/td>\n<\/tr>\n |
| 131243<\/td> | EDNRA<\/td> | Migraine, resistance to; Mandibulofacial dysostosis with alopecia<\/td>\n<\/tr>\n |
| 131244<\/td> | EDNRB<\/td> | Hirschsprung disease, susceptibility to, 2; ABCD syndrome; Waardenburg syndrome, type 4A<\/td>\n<\/tr>\n |
| 613576<\/td> | EDSS2<\/td> | Ectodermal dysplasia-syndactyly syndrome 2<\/td>\n<\/tr>\n |
| 129900<\/td> | EEC1<\/td> | EEC syndrome-1<\/td>\n<\/tr>\n |
| 605984<\/td> | EED<\/td> | Cohen-Gibson syndrome<\/td>\n<\/tr>\n |
| 602959<\/td> | EEF1A2<\/td> | Developmental and epileptic encephalopathy 33; Intellectual developmental disorder 38<\/td>\n<\/tr>\n |
| 130610<\/td> | EEF2<\/td> | Spinocerebellar ataxia 26<\/td>\n<\/tr>\n |
| 130180<\/td> | EEGV1<\/td> | Electroencephalographic variant pattern 1<\/td>\n<\/tr>\n |
| 601548<\/td> | EFEMP1<\/td> | Doyne honeycomb degeneration of retina; Cutis laxa, type ID; Glaucoma 1, open angle, H<\/td>\n<\/tr>\n |
| 604633<\/td> | EFEMP2<\/td> | Cutis laxa, type IB<\/td>\n<\/tr>\n |
| 608815<\/td> | EFHC1<\/td> | Epilepsy, juvenile absence, susceptibility to, 1; Myoclonic epilepsy, juvenile, susceptibility to, 1<\/td>\n<\/tr>\n |
| 617538<\/td> | EFL1<\/td> | Shwachman-Diamond syndrome 2<\/td>\n<\/tr>\n |
| 300035<\/td> | EFNB1<\/td> | Craniofrontonasal dysplasia, X-linked dominant<\/td>\n<\/tr>\n |
| 603892<\/td> | EFTUD2<\/td> | Mandibulofacial dysostosis, Guion-Almeida type<\/td>\n<\/tr>\n |
| 131530<\/td> | EGF<\/td> | Hypomagnesemia 4, renal<\/td>\n<\/tr>\n |
| 131550<\/td> | EGFR<\/td> | Neonatal nephrocutaneous inflammatory syndrome; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Somatic mutation; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Somatic mutation; Nonsmall cell lung cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 600669<\/td> | EGI<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 1<\/td>\n<\/tr>\n |
| 606425<\/td> | EGLN1<\/td> | Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation<\/td>\n<\/tr>\n |
| 129010<\/td> | EGR2<\/td> | Dejerine-Sottas disease; Charcot-Marie-Tooth disease, type 1D; Hypomyelinating neuropathy, congenital, 1<\/td>\n<\/tr>\n |
| 609922<\/td> | EHBP1<\/td> | Prostate cancer, hereditary, 12<\/td>\n<\/tr>\n |
| 607037<\/td> | EHHADH<\/td> | Fanconi renotubular syndrome 3<\/td>\n<\/tr>\n |
| 607001<\/td> | EHMT1<\/td> | Kleefstra syndrome 1<\/td>\n<\/tr>\n |
| 613635<\/td> | EIF2AK1<\/td> | Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome<\/td>\n<\/tr>\n |
| 176871<\/td> | EIF2AK2<\/td> | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome; Dystonia 33<\/td>\n<\/tr>\n |
| 604032<\/td> | EIF2AK3<\/td> | Wolcott-Rallison syndrome<\/td>\n<\/tr>\n |
| 609280<\/td> | EIF2AK4<\/td> | Pulmonary venoocclusive disease 2<\/td>\n<\/tr>\n |
| 606686<\/td> | EIF2B1<\/td> | Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure<\/td>\n<\/tr>\n |
| 606454<\/td> | EIF2B2<\/td> | Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure<\/td>\n<\/tr>\n |
| 606273<\/td> | EIF2B3<\/td> | Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure<\/td>\n<\/tr>\n |
| 606687<\/td> | EIF2B4<\/td> | Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure<\/td>\n<\/tr>\n |
| 603945<\/td> | EIF2B5<\/td> | Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure<\/td>\n<\/tr>\n |
| 300161<\/td> | EIF2S3<\/td> | MEHMO syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 603914<\/td> | EIF3F<\/td> | Intellectual developmental disorder 67<\/td>\n<\/tr>\n |
| 601102<\/td> | EIF4A2<\/td> | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures<\/td>\n<\/tr>\n |
| 608546<\/td> | EIF4A3<\/td> | Robin sequence with cleft mandible and limb anomalies<\/td>\n<\/tr>\n |
| 133440<\/td> | EIF4E<\/td> | Autism, susceptibility to, 19<\/td>\n<\/tr>\n |
| 600495<\/td> | EIF4G1<\/td> | Parkinson disease 18<\/td>\n<\/tr>\n |
| 600187<\/td> | EIF5A<\/td> | Faundes-Banka syndrome<\/td>\n<\/tr>\n |
| 606972<\/td> | EIG2<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 2<\/td>\n<\/tr>\n |
| 608762<\/td> | EIG3<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 3<\/td>\n<\/tr>\n |
| 609750<\/td> | EIG4<\/td> | Epilepsy, idiopathic generalized, susceptibility to 4<\/td>\n<\/tr>\n |
| 611934<\/td> | EIG5<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 5<\/td>\n<\/tr>\n |
| 604827<\/td> | EJM2<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 7, Isolated cases; Epilepsy, juvenile myoclonic, Isolated cases<\/td>\n<\/tr>\n |
| 608816<\/td> | EJM3<\/td> | Epilepsy, juvenile myoclonic 3<\/td>\n<\/tr>\n |
| 611364<\/td> | EJM4<\/td> | Myoclonic epilepsy, juvenile, 4<\/td>\n<\/tr>\n |
| 614280<\/td> | EJM9<\/td> | Epilepsy, juvenile myoclonic, susceptibility to, 9<\/td>\n<\/tr>\n |
| 611031<\/td> | EKD2<\/td> | Episodic kinesigenic dyskinesia 2<\/td>\n<\/tr>\n |
| 605367<\/td> | ELAC2<\/td> | Prostate cancer, hereditary, 2, susceptibility to; Combined oxidative phosphorylation deficiency 17<\/td>\n<\/tr>\n |
| 130130<\/td> | ELANE<\/td> | Neutropenia, cyclic; Neutropenia, severe congenital 1<\/td>\n<\/tr>\n |
| 300775<\/td> | ELF4<\/td> | Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, X-linked recessive<\/td>\n<\/tr>\n |
| 606421<\/td> | ELMO2<\/td> | Vascular malformation, primary intraosseous<\/td>\n<\/tr>\n |
| 615427<\/td> | ELMOD3<\/td> | Deafness 88; Deafness 81<\/td>\n<\/tr>\n |
| 130160<\/td> | ELN<\/td> | Cutis laxa; Supravalvar aortic stenosis<\/td>\n<\/tr>\n |
| 611813<\/td> | ELOVL1<\/td> | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies<\/td>\n<\/tr>\n |
| 605512<\/td> | ELOVL4<\/td> | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and impaired intellectual development<\/td>\n<\/tr>\n |
| 611805<\/td> | ELOVL5<\/td> | Spinocerebellar ataxia 38<\/td>\n<\/tr>\n |
| 603722<\/td> | ELP1<\/td> | Medulloblastoma, Somatic mutation; Dysautonomia, familial<\/td>\n<\/tr>\n |
| 616054<\/td> | ELP2<\/td> | Intellectual developmental disorder 58<\/td>\n<\/tr>\n |
| 606985<\/td> | ELP4<\/td> | Aniridia 2<\/td>\n<\/tr>\n |
| 616846<\/td> | EMC1<\/td> | Cerebellar atrophy, visual impairment, and psychomotor retardation<\/td>\n<\/tr>\n |
| 614545<\/td> | EMC10<\/td> | Neurodevelopmental disorder with dysmorphic facies and variable seizures<\/td>\n<\/tr>\n |
| 300384<\/td> | EMD<\/td> | Emery-Dreifuss muscular dystrophy 1, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 611531<\/td> | EMG1<\/td> | Bowen-Conradi syndrome<\/td>\n<\/tr>\n |
| 130660<\/td> | EMILIN1<\/td> | Neuronopathy, distal hereditary motor 10; Arterial tortuosity-bone fragility syndrome<\/td>\n<\/tr>\n |
| 602033<\/td> | EML1<\/td> | Band heterotopia<\/td>\n<\/tr>\n |
| 602334<\/td> | EMP2<\/td> | Nephrotic syndrome, type 10<\/td>\n<\/tr>\n |
| 300211<\/td> | EMWX<\/td> | Episodic muscle weakness, X-linked<\/td>\n<\/tr>\n |
| 600035<\/td> | EMX2<\/td> | Schizencephaly<\/td>\n<\/tr>\n |
| 131290<\/td> | EN1<\/td> | ENDOVE syndrome, limb-brain type<\/td>\n<\/tr>\n |
| 606585<\/td> | ENAM<\/td> | Amelogenesis imperfecta, type IC; Amelogenesis imperfecta, type IB<\/td>\n<\/tr>\n |
| 131200<\/td> | ENDO1<\/td> | Endometriosis, susceptibility to, 1, Multifactorial<\/td>\n<\/tr>\n |
| 603204<\/td> | ENFL2<\/td> | Epilepsy, nocturnal frontal lobe, type 2<\/td>\n<\/tr>\n |
| 131195<\/td> | ENG<\/td> | Telangiectasia, hereditary hemorrhagic, type 1<\/td>\n<\/tr>\n |
| 131370<\/td> | ENO3<\/td> | Glycogen storage disease XIII<\/td>\n<\/tr>\n |
| 173335<\/td> | ENPP1<\/td> | Obesity, susceptibility to, Multifactorial; Hypophosphatemic rickets, 2; Diabetes mellitus, non-insulin-dependent, susceptibility to; Arterial calcification, generalized, of infancy, 1; Cole disease<\/td>\n<\/tr>\n |
| 601752<\/td> | ENTPD1<\/td> | Spastic paraplegia 64<\/td>\n<\/tr>\n |
| 600631<\/td> | ENUR1<\/td> | Enuresis, nocturnal, 1<\/td>\n<\/tr>\n |
| 600808<\/td> | ENUR2<\/td> | Enuresis, nocturnal, 2<\/td>\n<\/tr>\n |
| 610247<\/td> | EOE1<\/td> | Esophagitis, eosinophilic, 1, Multifactorial<\/td>\n<\/tr>\n |
| 613412<\/td> | EOE2<\/td> | Esophagitis, eosinophilic, 2, Multifactorial<\/td>\n<\/tr>\n |
| 614789<\/td> | EOGT<\/td> | Adams-Oliver syndrome 4<\/td>\n<\/tr>\n |
| 131400<\/td> | EOS<\/td> | Eosinophilia, familial<\/td>\n<\/tr>\n |
| 602700<\/td> | EP300<\/td> | Menke-Hennekam syndrome 2; Colorectal cancer, somatic; Rubinstein-Taybi syndrome 2<\/td>\n<\/tr>\n |
| 603349<\/td> | EPAS1<\/td> | Erythrocytosis, familial, 4<\/td>\n<\/tr>\n |
| 130500<\/td> | EPB41<\/td> | Elliptocytosis-1<\/td>\n<\/tr>\n |
| 602879<\/td> | EPB41L1<\/td> | Intellectual developmental disorder 11<\/td>\n<\/tr>\n |
| 177070<\/td> | EPB42<\/td> | Spherocytosis, type 5<\/td>\n<\/tr>\n |
| 185535<\/td> | EPCAM<\/td> | Diarrhea 5, with tufting enteropathy, congenital; Lynch syndrome 8<\/td>\n<\/tr>\n |
| 615068<\/td> | EPG5<\/td> | Vici syndrome<\/td>\n<\/tr>\n |
| 611123<\/td> | EPHA10<\/td> | Deafness 88<\/td>\n<\/tr>\n |
| 176946<\/td> | EPHA2<\/td> | Cataract 6, multiple types<\/td>\n<\/tr>\n |
| 600997<\/td> | EPHB2<\/td> | Bleeding disorder, platelet-type, 22; Prostate cancer\/brain cancer susceptibility, somatic<\/td>\n<\/tr>\n |
| 600011<\/td> | EPHB4<\/td> | Capillary malformation-arteriovenous malformation 2; Lymphatic malformation 7<\/td>\n<\/tr>\n |
| 132811<\/td> | EPHX2<\/td> | Hypercholesterolemia, familial, due to LDLR defect, modifier of<\/td>\n<\/tr>\n |
| 607566<\/td> | EPM2A<\/td> | Myoclonic epilepsy of Lafora 1<\/td>\n<\/tr>\n |
| 133170<\/td> | EPO<\/td> | Microvascular complications of diabetes 2; Erythrocytosis, familial, 5; Diamond-Blackfan anemia-like<\/td>\n<\/tr>\n |
| 133171<\/td> | EPOR<\/td> | Erythrocytosis, familial, 1<\/td>\n<\/tr>\n |
| 607221<\/td> | EPPS<\/td> | Epilepsy, partial, with pericentral spikes<\/td>\n<\/tr>\n |
| 138295<\/td> | EPRS1<\/td> | Leukodystrophy, hypomyelinating, 15<\/td>\n<\/tr>\n |
| 600206<\/td> | EPS8<\/td> | Deafness 102<\/td>\n<\/tr>\n |
| 614988<\/td> | EPS8L2<\/td> | Deafness autosomal recessive 106<\/td>\n<\/tr>\n |
| 614989<\/td> | EPS8L3<\/td> | Hypotrichosis 5<\/td>\n<\/tr>\n |
| 131399<\/td> | EPX<\/td> | Eosinophil peroxidase deficiency<\/td>\n<\/tr>\n |
| 607435<\/td> | ERAL1<\/td> | Perrault syndrome 6<\/td>\n<\/tr>\n |
| 164870<\/td> | ERBB2<\/td> | Gastric cancer, somatic; Adenocarcinoma of lung, somatic; Ovarian cancer, somatic; Visceral neuropathy, familial, 2; Glioblastoma, somatic<\/td>\n<\/tr>\n |
| 190151<\/td> | ERBB3<\/td> | Lethal congenital contractural syndrome 2; Erythroleukemia, familial, susceptibility to; Visceral neuropathy, familial, 1<\/td>\n<\/tr>\n |
| 600543<\/td> | ERBB4<\/td> | Amyotrophic lateral sclerosis 19<\/td>\n<\/tr>\n |
| 126380<\/td> | ERCC1<\/td> | Cerebrooculofacioskeletal syndrome 4<\/td>\n<\/tr>\n |
| 126340<\/td> | ERCC2<\/td> | Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2<\/td>\n<\/tr>\n |
| 133510<\/td> | ERCC3<\/td> | Trichothiodystrophy 2, photosensitive; Xeroderma pigmentosum, group B<\/td>\n<\/tr>\n |
| 133520<\/td> | ERCC4<\/td> | Xeroderma pigmentosum, type F\/Cockayne syndrome; XFE progeroid syndrome; Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q<\/td>\n<\/tr>\n |
| 133530<\/td> | ERCC5<\/td> | Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosum, group G\/Cockayne syndrome<\/td>\n<\/tr>\n |
| 609413<\/td> | ERCC6<\/td> | UV-sensitive syndrome 1; Cerebrooculofacioskeletal syndrome 1; De Sanctis-Cacchione syndrome; Cockayne syndrome, type B; Macular degeneration, age-related, susceptibility to, 5; Premature ovarian failure 11; Lung cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 615667<\/td> | ERCC6L2<\/td> | Bone marrow failure syndrome 2<\/td>\n<\/tr>\n |
| 609412<\/td> | ERCC8<\/td> | UV-sensitive syndrome 2; Cockayne syndrome, type A<\/td>\n<\/tr>\n |
| 611888<\/td> | ERF<\/td> | Craniosynostosis 4; Chitayat syndrome<\/td>\n<\/tr>\n |
| 165080<\/td> | ERG<\/td> | Lymphatic malformation 14<\/td>\n<\/tr>\n |
| 617946<\/td> | ERGIC1<\/td> | Arthrogryposis multiplex congenita 2, neurogenic type<\/td>\n<\/tr>\n |
| 608739<\/td> | ERI1<\/td> | Hoxha-Aliu syndrome; Spondyloepimetaphyseal dysplasia, Guo-Campeau type<\/td>\n<\/tr>\n |
| 611604<\/td> | ERLIN1<\/td> | Spastic paraplegia 62<\/td>\n<\/tr>\n |
| 611605<\/td> | ERLIN2<\/td> | Spastic paraplegia 18A; Spastic paraplegia 18B<\/td>\n<\/tr>\n |
| 609017<\/td> | ERMAP<\/td> | Blood group, Scianna system; Blood group, Radin<\/td>\n<\/tr>\n |
| 615532<\/td> | ERMARD<\/td> | Periventricular nodular heterotopia 6<\/td>\n<\/tr>\n |
| 614281<\/td> | ESAM<\/td> | Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity<\/td>\n<\/tr>\n |
| 609353<\/td> | ESCO2<\/td> | Juberg-Hayward syndrome; Roberts-SC phocomelia syndrome<\/td>\n<\/tr>\n |
| 606351<\/td> | ESPN<\/td> | Deafness, neurosensory, without vestibular involvement; Deafness 36; Usher syndrome, type 1M<\/td>\n<\/tr>\n |
| 133430<\/td> | ESR1<\/td> | Breast cancer, somatic; Migraine, susceptibility to; Estrogen resistance; Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 601663<\/td> | ESR2<\/td> | Ovarian dysgenesis 8<\/td>\n<\/tr>\n |
| 612959<\/td> | ESRP1<\/td> | Deafness 109<\/td>\n<\/tr>\n |
| 602167<\/td> | ESRRB<\/td> | Deafness 35<\/td>\n<\/tr>\n |
| 608053<\/td> | ETFA<\/td> | Glutaric acidemia IIA<\/td>\n<\/tr>\n |
| 130410<\/td> | ETFB<\/td> | Glutaric acidemia IIB<\/td>\n<\/tr>\n |
| 231675<\/td> | ETFDH<\/td> | Glutaric acidemia IIC<\/td>\n<\/tr>\n |
| 608451<\/td> | ETHE1<\/td> | Ethylmalonic encephalopathy<\/td>\n<\/tr>\n |
| 608096<\/td> | ETL2<\/td> | Epilepsy, familial temporal lobe, 2<\/td>\n<\/tr>\n |
| 611631<\/td> | ETL4<\/td> | Epilepsy, familial temporal lobe, 4<\/td>\n<\/tr>\n |
| 615697<\/td> | ETL6<\/td> | Epilepsy, familial temporal lobe, 6<\/td>\n<\/tr>\n |
| 602134<\/td> | ETM2<\/td> | Essential tremor, hereditary, 2<\/td>\n<\/tr>\n |
| 611456<\/td> | ETM3<\/td> | Essential tremor, hereditary, 3<\/td>\n<\/tr>\n |
| 600618<\/td> | ETV6<\/td> | Thrombocytopenia 5; Leukemia, acute myeloid, somatic<\/td>\n<\/tr>\n |
| 604831<\/td> | EVC<\/td> | Ellis-van Creveld syndrome; Weyers acrofacial dysostosis<\/td>\n<\/tr>\n |
| 607261<\/td> | EVC2<\/td> | Ellis-van Creveld syndrome; Weyers acrofacial dysostosis<\/td>\n<\/tr>\n |
| 605750<\/td> | EVR3<\/td> | Exudative vitreoretinopathy 3<\/td>\n<\/tr>\n |
| 133450<\/td> | EWSR1<\/td> | Neuroepithelioma; Ewing sarcoma<\/td>\n<\/tr>\n |
| 615329<\/td> | EXOC2<\/td> | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia<\/td>\n<\/tr>\n |
| 616927<\/td> | EXOC3L2<\/td> | Brain malformation renal syndrome<\/td>\n<\/tr>\n |
| 607880<\/td> | EXOC6B<\/td> | Spondyloepimetaphyseal dysplasia with joint laxity, type 3<\/td>\n<\/tr>\n |
| 608163<\/td> | EXOC7<\/td> | Neurodevelopmental disorder with seizures and brain atrophy<\/td>\n<\/tr>\n |
| 615283<\/td> | EXOC8<\/td> | Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy<\/td>\n<\/tr>\n |
| 606493<\/td> | EXOSC1<\/td> | Pontocerebellar hypoplasia, type 1F<\/td>\n<\/tr>\n |
| 602238<\/td> | EXOSC2<\/td> | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies<\/td>\n<\/tr>\n |
| 606489<\/td> | EXOSC3<\/td> | Pontocerebellar hypoplasia, type 1B<\/td>\n<\/tr>\n |
| 606492<\/td> | EXOSC5<\/td> | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects<\/td>\n<\/tr>\n |
| 606019<\/td> | EXOSC8<\/td> | Pontocerebellar hypoplasia, type 1C<\/td>\n<\/tr>\n |
| 606180<\/td> | EXOSC9<\/td> | Pontocerebellar hypoplasia, type 1D<\/td>\n<\/tr>\n |
| 612878<\/td> | EXPH5<\/td> | Epidermolysis bullosa simplex 4, localized or generalized intermediate<\/td>\n<\/tr>\n |
| 608177<\/td> | EXT1<\/td> | Exostoses, multiple, type 1; Chondrosarcoma, Somatic mutation<\/td>\n<\/tr>\n |
| 608210<\/td> | EXT2<\/td> | Seizures, scoliosis, and macrocephaly syndrome; Exostoses, multiple, type 2<\/td>\n<\/tr>\n |
| 600209<\/td> | EXT3<\/td> | Exostoses, multiple, type 3<\/td>\n<\/tr>\n |
| 605744<\/td> | EXTL3<\/td> | Immunoskeletal dysplasia with neurodevelopmental abnormalities<\/td>\n<\/tr>\n |
| 601653<\/td> | EYA1<\/td> | Branchiootic syndrome 1; Branchiootorenal syndrome 1, with or without cataracts; Anterior segment anomalies with or without cataract; Otofaciocervical syndrome<\/td>\n<\/tr>\n |
| 603550<\/td> | EYA4<\/td> | Cardiomyopathy, dilated, 1J; Deafness 10<\/td>\n<\/tr>\n |
| 612424<\/td> | EYS<\/td> | Retinitis pigmentosa 25<\/td>\n<\/tr>\n |
| 601573<\/td> | EZH2<\/td> | Weaver syndrome<\/td>\n<\/tr>\n |
| 613872<\/td> | F10<\/td> | Factor X deficiency<\/td>\n<\/tr>\n |
| 264900<\/td> | F11<\/td> | Factor XI deficiency; Factor XI deficiency<\/td>\n<\/tr>\n |
| 610619<\/td> | F12<\/td> | Angioedema, hereditary, 3; Factor XII deficiency<\/td>\n<\/tr>\n |
| 134570<\/td> | F13A1<\/td> | Factor XIIIA deficiency; Myocardial infarction, protection against; Venous thrombosis, protection against<\/td>\n<\/tr>\n |
| 134580<\/td> | F13B<\/td> | Factor XIIIB deficiency<\/td>\n<\/tr>\n |
| 176930<\/td> | F2<\/td> | Hypoprothrombinemia; Pregnancy loss, recurrent, susceptibility to, 2; Dysprothrombinemia; Thrombophilia 1 due to thrombin defect; Stroke, ischemic, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 612309<\/td> | F5<\/td> | Thrombophilia 2 due to activated protein C resistance; Pregnancy loss, recurrent, susceptibility to, 1; Thrombophilia, susceptibility to, due to factor V Leiden; Budd-Chiari syndrome; Stroke, ischemic, susceptibility to, Multifactorial; Factor V deficiency<\/td>\n<\/tr>\n |
| 613878<\/td> | F7<\/td> | Myocardial infarction, decreased susceptibility to; Factor VII deficiency<\/td>\n<\/tr>\n |
| 300841<\/td> | F8<\/td> | Thrombophilia 13, X-linked, due to factor VIII defect; Hemophilia A, X-linked recessive<\/td>\n<\/tr>\n |
| 300746<\/td> | F9<\/td> | Deep venous thrombosis, protection against, X-linked recessive; Hemophilia B, X-linked recessive; Thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive; Warfarin sensitivity, X-linked<\/td>\n<\/tr>\n |
| 611026<\/td> | FA2H<\/td> | Spastic paraplegia 35<\/td>\n<\/tr>\n |
| 602935<\/td> | FAAH<\/td> | Drug addiction, susceptibility to<\/td>\n<\/tr>\n |
| 602457<\/td> | FADD<\/td> | Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction<\/td>\n<\/tr>\n |
| 613871<\/td> | FAH<\/td> | Tyrosinemia, type I<\/td>\n<\/tr>\n |
| 615292<\/td> | FAM111A<\/td> | Kenny-Caffey syndrome, type 2; Gracile bone dysplasia<\/td>\n<\/tr>\n |
| 615584<\/td> | FAM111B<\/td> | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis<\/td>\n<\/tr>\n |
| 618413<\/td> | FAM149B1<\/td> | Joubert syndrome 36<\/td>\n<\/tr>\n |
| 613596<\/td> | FAM161A<\/td> | Retinitis pigmentosa 28<\/td>\n<\/tr>\n |
| 611062<\/td> | FAM20A<\/td> | Amelogenesis imperfecta, type IG (enamel-renal syndrome)<\/td>\n<\/tr>\n |
| 611061<\/td> | FAM20C<\/td> | Raine syndrome<\/td>\n<\/tr>\n |
| 300453<\/td> | FAM50A<\/td> | Intellectual developmental disorder, X-linked syndromic, Armfield type, X-linked recessive<\/td>\n<\/tr>\n |
| 611927<\/td> | FAM83H<\/td> | Amelogenesis imperfecta, type IIIA<\/td>\n<\/tr>\n |
| 613534<\/td> | FAN1<\/td> | Interstitial nephritis, karyomegalic<\/td>\n<\/tr>\n |
| 607139<\/td> | FANCA<\/td> | Fanconi anemia, complementation group A<\/td>\n<\/tr>\n |
| 300515<\/td> | FANCB<\/td> | Fanconi anemia, complementation group B, X-linked recessive<\/td>\n<\/tr>\n |
| 613899<\/td> | FANCC<\/td> | Fanconi anemia, complementation group C<\/td>\n<\/tr>\n |
| 613984<\/td> | FANCD2<\/td> | Fanconi anemia, complementation group D2<\/td>\n<\/tr>\n |
| 613976<\/td> | FANCE<\/td> | Fanconi anemia, complementation group E<\/td>\n<\/tr>\n |
| 613897<\/td> | FANCF<\/td> | Fanconi anemia, complementation group F<\/td>\n<\/tr>\n |
| 602956<\/td> | FANCG<\/td> | Fanconi anemia, complementation group G<\/td>\n<\/tr>\n |
| 611360<\/td> | FANCI<\/td> | Fanconi anemia, complementation group I<\/td>\n<\/tr>\n |
| 608111<\/td> | FANCL<\/td> | Fanconi anemia, complementation group L<\/td>\n<\/tr>\n |
| 609644<\/td> | FANCM<\/td> | Premature ovarian failure 15; Spermatogenic failure 28<\/td>\n<\/tr>\n |
| 616107<\/td> | FAR1<\/td> | Peroxisomal fatty acyl-CoA reductase 1 disorder; Cataracts, spastic paraparesis, and speech delay<\/td>\n<\/tr>\n |
| 611592<\/td> | FARS2<\/td> | Combined oxidative phosphorylation deficiency 14; Spastic paraplegia 77<\/td>\n<\/tr>\n |
| 602918<\/td> | FARSA<\/td> | Rajab interstitial lung disease with brain calcifications 2<\/td>\n<\/tr>\n |
| 609690<\/td> | FARSB<\/td> | Rajab interstitial lung disease with brain calcifications 1<\/td>\n<\/tr>\n |
| 134637<\/td> | FAS<\/td> | Squamous cell carcinoma, burn scar-related, somatic; Autoimmune lymphoproliferative syndrome, type IA; Autoimmune lymphoproliferative syndrome<\/td>\n<\/tr>\n |
| 134638<\/td> | FASLG<\/td> | Autoimmune lymphoproliferative syndrome, type IB; Lung cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 612322<\/td> | FASTKD2<\/td> | Combined oxidative phosphorylation deficiency 44<\/td>\n<\/tr>\n |
| 604269<\/td> | FAT2<\/td> | Spinocerebellar ataxia 45<\/td>\n<\/tr>\n |
| 612411<\/td> | FAT4<\/td> | Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2<\/td>\n<\/tr>\n |
| 135820<\/td> | FBLN1<\/td> | Synpolydactyly, 3\/3’4, associated with metacarpal and metatarsal synostoses<\/td>\n<\/tr>\n |
| 604580<\/td> | FBLN5<\/td> | Cutis laxa, type IA; Charcot-Marie-Tooth disease, demyelinating, type 1H; Macular degeneration, age-related, 3; Cutis laxa 2<\/td>\n<\/tr>\n |
| 134797<\/td> | FBN1<\/td> | Geleophysic dysplasia 2; Weill-Marchesani syndrome 2, dominant; Ectopia lentis, familial; MASS syndrome; Marfan lipodystrophy syndrome; Acromicric dysplasia; Marfan syndrome; Stiff skin syndrome<\/td>\n<\/tr>\n |
| 612570<\/td> | FBN2<\/td> | Macular degeneration, early-onset; Contractural arachnodactyly, congenital<\/td>\n<\/tr>\n |
| 611570<\/td> | FBP1<\/td> | Fructose-1,6-bisphosphatase deficiency<\/td>\n<\/tr>\n |
| 603027<\/td> | FBP2<\/td> | Leukodystrophy, childhood-onset, remitting<\/td>\n<\/tr>\n |
| 605653<\/td> | FBXL3<\/td> | Intellectual developmental disorder with short stature, facial anomalies, and speech defects<\/td>\n<\/tr>\n |
| 605654<\/td> | FBXL4<\/td> | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)<\/td>\n<\/tr>\n |
| 607871<\/td> | FBXO11<\/td> | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities<\/td>\n<\/tr>\n |
| 609100<\/td> | FBXO28<\/td> | Developmental and epileptic encephalopathy 100<\/td>\n<\/tr>\n |
| 609102<\/td> | FBXO31<\/td> | Intellectual developmental disorder 45<\/td>\n<\/tr>\n |
| 608533<\/td> | FBXO38<\/td> | Neuronopathy, distal hereditary motor 6<\/td>\n<\/tr>\n |
| 609110<\/td> | FBXO43<\/td> | Spermatogenic failure 64; Oocyte\/zygote\/embryo maturation arrest 12<\/td>\n<\/tr>\n |
| 605648<\/td> | FBXO7<\/td> | Parkinson disease 15<\/td>\n<\/tr>\n |
| 605651<\/td> | FBXW11<\/td> | Neurodevelopmental, jaw, eye, and digital syndrome<\/td>\n<\/tr>\n |
| 606278<\/td> | FBXW7<\/td> | Developmental delay, hypotonia, and impaired language<\/td>\n<\/tr>\n |
| 146760<\/td> | FCGR1A<\/td> | IgG receptor I, phagocytic, familial deficiency of<\/td>\n<\/tr>\n |
| 146790<\/td> | FCGR2A<\/td> | Malaria, severe, susceptibility to; Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis; Lupus nephritis, susceptibility to<\/td>\n<\/tr>\n |
| 604590<\/td> | FCGR2B<\/td> | Systemic lupus erythematosus, susceptibility to; Malaria, resistance to<\/td>\n<\/tr>\n |
| 146740<\/td> | FCGR3A<\/td> | Immunodeficiency 20<\/td>\n<\/tr>\n |
| 613437<\/td> | FCHO1<\/td> | Immunodeficiency 76<\/td>\n<\/tr>\n |
| 604973<\/td> | FCN3<\/td> | Immunodeficiency due to ficolin 3 deficiency<\/td>\n<\/tr>\n |
| 305435<\/td> | FCP1<\/td> | Fetal hemoglobin quantitative trait locus 3, X-linked<\/td>\n<\/tr>\n |
| 608675<\/td> | FCSK<\/td> | Congenital disorder of glycosylation with defective fucosylation 2<\/td>\n<\/tr>\n |
| 184420<\/td> | FDFT1<\/td> | Squalene synthase deficiency<\/td>\n<\/tr>\n |
| 134629<\/td> | FDPS<\/td> | Porokeratosis 9, multiple types<\/td>\n<\/tr>\n |
| 614585<\/td> | FDX2<\/td> | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy<\/td>\n<\/tr>\n |
| 103270<\/td> | FDXR<\/td> | Multiple mitochondrial dysfunctions syndrome 9B; Auditory neuropathy and optic atrophy<\/td>\n<\/tr>\n |
| 121210<\/td> | Feb-01<\/td> | Febrile seizures, familial, 1<\/td>\n<\/tr>\n |
| 612637<\/td> | Feb-10<\/td> | Febrile seizures, familial, 10<\/td>\n<\/tr>\n |
| 609255<\/td> | Feb-05<\/td> | Febrile seizures, familial, 5<\/td>\n<\/tr>\n |
| 609253<\/td> | Feb-06<\/td> | Febrile seizures, familial, 6<\/td>\n<\/tr>\n |
| 611515<\/td> | Feb-07<\/td> | Febrile seizures, familial, 7<\/td>\n<\/tr>\n |
| 611634<\/td> | Feb-09<\/td> | Febrile seizures, familial, 9<\/td>\n<\/tr>\n |
| 610158<\/td> | FECD2<\/td> | Corneal dystrophy, Fuchs endothelial, 2<\/td>\n<\/tr>\n |
| 613269<\/td> | FECD5<\/td> | Corneal dystrophy, Fuchs endothelial, 5<\/td>\n<\/tr>\n |
| 613271<\/td> | FECD7<\/td> | Corneal dystrophy, Fuchs endothelial, 7<\/td>\n<\/tr>\n |
| 612386<\/td> | FECH<\/td> | Protoporphyria, erythropoietic, 1<\/td>\n<\/tr>\n |
| 607900<\/td> | FERMT1<\/td> | Kindler syndrome<\/td>\n<\/tr>\n |
| 607901<\/td> | FERMT3<\/td> | Leukocyte adhesion deficiency, type III<\/td>\n<\/tr>\n |
| 616082<\/td> | FERRY3<\/td> | Intellectual developmental disorder 66<\/td>\n<\/tr>\n |
| 613301<\/td> | FEZF1<\/td> | Hypogonadotropic hypogonadism 22, with or without anosmia<\/td>\n<\/tr>\n |
| 609044<\/td> | FFAR4<\/td> | Obesity, susceptibility to<\/td>\n<\/tr>\n |
| 134820<\/td> | FGA<\/td> | Amyloidosis, hereditary systemic 2; Hypodysfibrinogenemia, congenital; Dysfibrinogenemia, congenital; Afibrinogenemia, congenital<\/td>\n<\/tr>\n |
| 134830<\/td> | FGB<\/td> | Hypofibrinogenemia, congenital; Dysfibrinogenemia, congenital; Afibrinogenemia, congenital<\/td>\n<\/tr>\n |
| 300546<\/td> | FGD1<\/td> | Intellectual developmental disorder, X-linked syndromic 16, X-linked recessive; Aarskog-Scott syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 611104<\/td> | FGD4<\/td> | Charcot-Marie-Tooth disease, type 4H<\/td>\n<\/tr>\n |
| 602115<\/td> | FGF10<\/td> | LADD syndrome 3; Aplasia of lacrimal and salivary glands<\/td>\n<\/tr>\n |
| 601513<\/td> | FGF12<\/td> | Developmental and epileptic encephalopathy 47<\/td>\n<\/tr>\n |
| 300070<\/td> | FGF13<\/td> | Developmental and epileptic encephalopathy 90, X-linked dominant, X-linked recessive; Intellectual developmental disorder, X-linked 110, X-linked recessive<\/td>\n<\/tr>\n |
| 601515<\/td> | FGF14<\/td> | Spinocerebellar ataxia 27A; Spinocerebellar ataxia 27B, late-onset<\/td>\n<\/tr>\n |
| 300827<\/td> | FGF16<\/td> | Metacarpal 4-5 fusion, X-linked recessive<\/td>\n<\/tr>\n |
| 603725<\/td> | FGF17<\/td> | Hypogonadotropic hypogonadism 20 with or without anosmia<\/td>\n<\/tr>\n |
| 605558<\/td> | FGF20<\/td> | Renal hypodysplasia\/aplasia 2<\/td>\n<\/tr>\n |
| 605380<\/td> | FGF23<\/td> | Tumoral calcinosis, hyperphosphatemic, familial, 2; Hypophosphatemic rickets<\/td>\n<\/tr>\n |
| 164950<\/td> | FGF3<\/td> | Deafness, congenital with inner ear agenesis, microtia, and microdontia<\/td>\n<\/tr>\n |
| 165190<\/td> | FGF5<\/td> | Trichomegaly<\/td>\n<\/tr>\n |
| 600483<\/td> | FGF8<\/td> | Hypogonadotropic hypogonadism 6 with or without anosmia<\/td>\n<\/tr>\n |
| 600921<\/td> | FGF9<\/td> | Multiple synostoses syndrome 3<\/td>\n<\/tr>\n |
| 136350<\/td> | FGFR1<\/td> | Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Hartsfield syndrome; Trigonocephaly 1; Osteoglophonic dysplasia; Encephalocraniocutaneous lipomatosis, somatic mosaic<\/td>\n<\/tr>\n |
| 176943<\/td> | FGFR2<\/td> | Bent bone dysplasia syndrome; LADD syndrome 1; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly and Axenfeld-Rieger anomaly; Jackson-Weiss syndrome; Gastric cancer, somatic; Craniofacial-skeletal-dermatologic dysplasia; Apert syndrome; Pfeiffer syndrome; Craniosynostosis, nonspecific; Scaphocephaly, maxillary retrusion, and impaired intellectual development; Beare-Stevenson cutis gyrata syndrome; Crouzon syndrome; Saethre-Chotzen syndrome<\/td>\n<\/tr>\n |
| 134934<\/td> | FGFR3<\/td> | Muenke syndrome; SADDAN; Hypochondroplasia; Thanatophoric dysplasia, type II; Nevus, epidermal, somatic; CATSHL syndrome; Thanatophoric dysplasia, type I; Spermatocytic seminoma, somatic; Bladder cancer, somatic; LADD syndrome 2; Achondroplasia; Cervical cancer, somatic; Colorectal cancer, somatic; Crouzon syndrome with acanthosis nigricans<\/td>\n<\/tr>\n |
| 134935<\/td> | FGFR4<\/td> | Cancer progression\/metastasis<\/td>\n<\/tr>\n |
| 134850<\/td> | FGG<\/td> | Dysfibrinogenemia, congenital; Hypodysfibrinogenemia; Hypofibrinogenemia, congenital; Afibrinogenemia, congenital<\/td>\n<\/tr>\n |
| 612108<\/td> | FGQTL1<\/td> | Fasting plasma glucose level QTL 1<\/td>\n<\/tr>\n |
| 613219<\/td> | FGQTL2<\/td> | Fasting plasma glucose level QTL 2; Birth weight QTL 1<\/td>\n<\/tr>\n |
| 613233<\/td> | FGQTL3<\/td> | Fasting plasma glucose level QTL 3<\/td>\n<\/tr>\n |
| 613462<\/td> | FGQTL4<\/td> | Fasting plasma glucose level QTL 4<\/td>\n<\/tr>\n |
| 613460<\/td> | FGQTL6<\/td> | Birth weight QTL 3; Fasting plasma glucose level QTL 6<\/td>\n<\/tr>\n |
| 300406<\/td> | FGS3<\/td> | FG syndrome 3, X-linked<\/td>\n<\/tr>\n |
| 300581<\/td> | FGS5<\/td> | FG syndrome 5, X-linked<\/td>\n<\/tr>\n |
| 136850<\/td> | FH<\/td> | Leiomyomatosis and renal cell cancer; Fumarase deficiency<\/td>\n<\/tr>\n |
| 300163<\/td> | FHL1<\/td> | Myopathy, X-linked, with postural muscle atrophy, X-linked recessive; Emery-Dreifuss muscular dystrophy 6, X-linked, X-linked recessive; Uruguay faciocardiomusculoskeletal syndrome, X-linked recessive; Scapuloperoneal myopathy, X-linked dominant, X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, X-linked; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant<\/td>\n<\/tr>\n |
| 609691<\/td> | FHOD3<\/td> | Cardiomyopathy, familial hypertrophic, 28<\/td>\n<\/tr>\n |
| 608296<\/td> | FIBP<\/td> | Thauvin-Robinet-Faivre syndrome<\/td>\n<\/tr>\n |
| 620875<\/td> | FICD<\/td> | Spastic paraplegia 92<\/td>\n<\/tr>\n |
| 609390<\/td> | FIG4<\/td> | Yunis-Varon syndrome; Polymicrogyria, bilateral temporooccipital; Amyotrophic lateral sclerosis 11; Charcot-Marie-Tooth disease, type 4J<\/td>\n<\/tr>\n |
| 608697<\/td> | FIGLA<\/td> | Premature ovarian failure 6<\/td>\n<\/tr>\n |
| 607307<\/td> | FILIP1<\/td> | Neuromuscular disorder, congenital, with dysmorphic facies<\/td>\n<\/tr>\n |
| 606035<\/td> | FIQTL1<\/td> | Fasting insulin level quantitative trait locus 1<\/td>\n<\/tr>\n |
| 612029<\/td> | FITM2<\/td> | Siddiqi syndrome<\/td>\n<\/tr>\n |
| 607063<\/td> | FKBP10<\/td> | Osteogenesis imperfecta, type XI; Bruck syndrome 1<\/td>\n<\/tr>\n |
| 614505<\/td> | FKBP14<\/td> | Ehlers-Danlos syndrome, kyphoscoliotic type, 2<\/td>\n<\/tr>\n |
| 602623<\/td> | FKBP5<\/td> | Major depressive disorder and accelerated response to antidepressant drug treatment<\/td>\n<\/tr>\n |
| 604839<\/td> | FKBP6<\/td> | Spermatogenic failure 77<\/td>\n<\/tr>\n |
| 606596<\/td> | FKRP<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5<\/td>\n<\/tr>\n |
| 607440<\/td> | FKTN<\/td> | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Cardiomyopathy, dilated, 1X; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4<\/td>\n<\/tr>\n |
| 613024<\/td> | FL1<\/td> | Follicular lymphoma, susceptibility to, 1<\/td>\n<\/tr>\n |
| 610595<\/td> | FLAD1<\/td> | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency<\/td>\n<\/tr>\n |
| 607273<\/td> | FLCN<\/td> | Birt-Hogg-Dube syndrome; Colorectal cancer, somatic; Pneumothorax, primary spontaneous; Renal carcinoma, chromophobe, somatic<\/td>\n<\/tr>\n |
| 135940<\/td> | FLG<\/td> | Ichthyosis vulgaris; Dermatitis, atopic, susceptibility to, 2<\/td>\n<\/tr>\n |
| 616284<\/td> | FLG2<\/td> | Peeling skin syndrome 6<\/td>\n<\/tr>\n |
| 193067<\/td> | FLI1<\/td> | Bleeding disorder, platelet-type, 21<\/td>\n<\/tr>\n |
| 600362<\/td> | FLII<\/td> | Cardiomyopathy, dilated, 2J<\/td>\n<\/tr>\n |
| 300017<\/td> | FLNA<\/td> | Otopalatodigital syndrome, type II, X-linked dominant; Intestinal pseudoobstruction, neuronal, X-linked recessive; Cardiac valvular dysplasia, X-linked, X-linked; FG syndrome 2, X-linked; Melnick-Needles syndrome, X-linked dominant; Terminal osseous dysplasia, X-linked dominant; Congenital short bowel syndrome, X-linked recessive; Otopalatodigital syndrome, type I, X-linked dominant; Heterotopia, periventricular, 1, X-linked dominant; Frontometaphyseal dysplasia 1, X-linked recessive<\/td>\n<\/tr>\n |
| 603381<\/td> | FLNB<\/td> | Larsen syndrome; Atelosteogenesis, type I; Atelosteogenesis, type III; Spondylocarpotarsal synostosis syndrome; Boomerang dysplasia<\/td>\n<\/tr>\n |
| 102565<\/td> | FLNC<\/td> | Cardiomyopathy, familial hypertrophic, 26; Arrhythmogenic right ventricular dysplasia, familial; Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4; Myopathy, myofibrillar, 5<\/td>\n<\/tr>\n |
| 604808<\/td> | FLRT3<\/td> | Hypogonadotropic hypogonadism 21 with anosmia<\/td>\n<\/tr>\n |
| 136351<\/td> | FLT3<\/td> | Leukemia, acute lymphoblastic, somatic; Leukemia, acute myeloid, reduced survival in, somatic; Leukemia, acute myeloid, somatic<\/td>\n<\/tr>\n |
| 600007<\/td> | FLT3LG<\/td> | Immunodeficiency 125<\/td>\n<\/tr>\n |
| 136352<\/td> | FLT4<\/td> | Hemangioma, capillary infantile, somatic; Lymphatic malformation 1; Congenital heart defects, multiple types, 7<\/td>\n<\/tr>\n |
| 609144<\/td> | FLVCR1<\/td> | Ataxia, posterior column, with retinitis pigmentosa<\/td>\n<\/tr>\n |
| 610865<\/td> | FLVCR2<\/td> | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome<\/td>\n<\/tr>\n |
| 606373<\/td> | FMN2<\/td> | Intellectual developmental disorder 47<\/td>\n<\/tr>\n |
| 136132<\/td> | FMO3<\/td> | Trimethylaminuria<\/td>\n<\/tr>\n |
| 309550<\/td> | FMR1<\/td> | Fragile X tremor\/ataxia syndrome, X-linked dominant; Fragile X syndrome, X-linked dominant; Premature ovarian failure 1, X-linked<\/td>\n<\/tr>\n |
| 611630<\/td> | FMTLE<\/td> | Epilepsy, familial temporal lobe, 3<\/td>\n<\/tr>\n |
| 135600<\/td> | FN1<\/td> | Spondylometaphyseal dysplasia, corner fracture type; Glomerulopathy with fibronectin deposits 2<\/td>\n<\/tr>\n |
| 610594<\/td> | FNIP1<\/td> | Immunodeficiency 93 and hypertrophic cardiomyopathy<\/td>\n<\/tr>\n |
| 614606<\/td> | FOCAD<\/td> | Liver disease, severe congenital<\/td>\n<\/tr>\n |
| 136430<\/td> | FOLR1<\/td> | Neurodegeneration due to cerebral folate transport deficiency<\/td>\n<\/tr>\n |
| 601575<\/td> | FOSL2<\/td> | Aplasia cutis-enamel dysplasia syndrome<\/td>\n<\/tr>\n |
| 601090<\/td> | FOXC1<\/td> | Axenfeld-Rieger syndrome, type 3; Anterior segment dysgenesis 3, multiple subtypes<\/td>\n<\/tr>\n |
| 602402<\/td> | FOXC2<\/td> | Lymphedema-distichiasis syndrome; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus<\/td>\n<\/tr>\n |
| 611539<\/td> | FOXD3<\/td> | Autoimmune disease, susceptibility to, 1<\/td>\n<\/tr>\n |
| 602617<\/td> | FOXE1<\/td> | Bamforth-Lazarus syndrome; Thyroid cancer, nonmedullary, 4<\/td>\n<\/tr>\n |
| 601094<\/td> | FOXE3<\/td> | Anterior segment dysgenesis 2, multiple subtypes; Aortic aneurysm, familial thoracic 11, susceptibility to; Cataract 34, multiple types<\/td>\n<\/tr>\n |
| 601089<\/td> | FOXF1<\/td> | Alveolar capillary dysplasia with misalignment of pulmonary veins<\/td>\n<\/tr>\n |
| 164874<\/td> | FOXG1<\/td> | Rett syndrome, congenital variant<\/td>\n<\/tr>\n |
| 601093<\/td> | FOXI1<\/td> | Enlarged vestibular aqueduct<\/td>\n<\/tr>\n |
| 612351<\/td> | FOXI3<\/td> | Craniofacial microsomia 2<\/td>\n<\/tr>\n |
| 602291<\/td> | FOXJ1<\/td> | Ciliary dyskinesia, primary, 43<\/td>\n<\/tr>\n |
| 603252<\/td> | FOXL1<\/td> | Otosclerosis 11<\/td>\n<\/tr>\n |
| 605597<\/td> | FOXL2<\/td> | Blepharophimosis, epicanthus inversus, and ptosis, type 2; Blepharophimosis, epicanthus inversus, and ptosis, type 1; Premature ovarian failure 3<\/td>\n<\/tr>\n |
| 600838<\/td> | FOXN1<\/td> | T-cell lymphopenia, infantile, with or without nail dystrophy; T-cell immunodeficiency, congenital alopecia, and nail dystrophy<\/td>\n<\/tr>\n |
| 136533<\/td> | FOXO1<\/td> | Rhabdomyosarcoma, alveolar, Somatic mutation<\/td>\n<\/tr>\n |
| 605515<\/td> | FOXP1<\/td> | Intellectual developmental disorder with language impairment with or without autistic features<\/td>\n<\/tr>\n |
| 605317<\/td> | FOXP2<\/td> | Speech-language disorder-1<\/td>\n<\/tr>\n |
| 300292<\/td> | FOXP3<\/td> | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 613622<\/td> | FOXRED1<\/td> | Mitochondrial complex I deficiency, nuclear type 19<\/td>\n<\/tr>\n |
| 608866<\/td> | FRA10AC1<\/td> | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities<\/td>\n<\/tr>\n |
| 607830<\/td> | FRAS1<\/td> | Fraser syndrome 1<\/td>\n<\/tr>\n |
| 601992<\/td> | FRDA2<\/td> | Friedreich ataxia 2<\/td>\n<\/tr>\n |
| 608944<\/td> | FREM1<\/td> | Manitoba oculotrichoanal syndrome; Bifid nose with or without anorectal and renal anomalies; Trigonocephaly 2<\/td>\n<\/tr>\n |
| 608945<\/td> | FREM2<\/td> | Fraser syndrome 2; Cryptophthalmos, unilateral or bilateral, isolated<\/td>\n<\/tr>\n |
| 616305<\/td> | FRMD4A<\/td> | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia<\/td>\n<\/tr>\n |
| 616309<\/td> | FRMD5<\/td> | Neurodevelopmental disorder with eye movement abnormalities and ataxia<\/td>\n<\/tr>\n |
| 300628<\/td> | FRMD7<\/td> | Nystagmus, infantile periodic alternating, X-linked, X-linked; Nystagmus 1, congenital, X-linked, X-linked<\/td>\n<\/tr>\n |
| 300838<\/td> | FRMPD4<\/td> | Intellectual developmental disorder, X-linked 104, X-linked<\/td>\n<\/tr>\n |
| 604574<\/td> | FRRS1L<\/td> | Developmental and epileptic encephalopathy 37<\/td>\n<\/tr>\n |
| 605083<\/td> | FRZB<\/td> | Osteoarthritis susceptibility 1, Multifactorial<\/td>\n<\/tr>\n |
| 607643<\/td> | FSCN2<\/td> | Retinitis pigmentosa 30<\/td>\n<\/tr>\n |
| 136530<\/td> | FSHB<\/td> | Hypogonadotropic hypogonadism 24 without anosmia<\/td>\n<\/tr>\n |
| 136435<\/td> | FSHR<\/td> | Ovarian hyperstimulation syndrome; Ovarian dysgenesis 1<\/td>\n<\/tr>\n |
| 615796<\/td> | FSIP2<\/td> | Spermatogenic failure 34<\/td>\n<\/tr>\n |
| 606806<\/td> | FTCD<\/td> | Glutamate formiminotransferase deficiency<\/td>\n<\/tr>\n |
| 134770<\/td> | FTH1<\/td> | Neurodegeneration with brain iron accumulation 9; Hemochromatosis, type 5<\/td>\n<\/tr>\n |
| 134790<\/td> | FTL<\/td> | Hyperferritinemia-cataract syndrome; L-ferritin deficiency, dominant and recessive; Neurodegeneration with brain iron accumulation 3<\/td>\n<\/tr>\n |
| 610966<\/td> | FTO<\/td> | Growth retardation, developmental delay, facial dysmorphism; Obesity, susceptibility to, BMIQ14<\/td>\n<\/tr>\n |
| 300499<\/td> | FTSJ1<\/td> | Intellectual developmental disorder, X-linked 9, X-linked recessive<\/td>\n<\/tr>\n |
| 612280<\/td> | FUCA1<\/td> | Fucosidosis<\/td>\n<\/tr>\n |
| 137070<\/td> | FUS<\/td> | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Essential tremor, hereditary, 4<\/td>\n<\/tr>\n |
| 211100<\/td> | FUT1<\/td> | Bombay phenotype<\/td>\n<\/tr>\n |
| 182100<\/td> | FUT2<\/td> | Norwalk virus infection, resistance to; Vitamin B12 plasma level QTL1; Bombay phenotype, digenic<\/td>\n<\/tr>\n |
| 111100<\/td> | FUT3<\/td> | Blood group, Lewis<\/td>\n<\/tr>\n |
| 136836<\/td> | FUT6<\/td> | Fucosyltransferase 6 deficiency<\/td>\n<\/tr>\n |
| 602589<\/td> | FUT8<\/td> | Congenital disorder of glycosylation with defective fucosylation 1<\/td>\n<\/tr>\n |
| 610622<\/td> | FUZ<\/td> | Neural tube defects, susceptibility to<\/td>\n<\/tr>\n |
| 613606<\/td> | FWS<\/td> | Forsythe-Wakeling syndrome<\/td>\n<\/tr>\n |
| 606829<\/td> | FXN<\/td> | Friedreich ataxia with retained reflexes; Friedreich ataxia<\/td>\n<\/tr>\n |
| 600819<\/td> | FXR1<\/td> | Congenital myopathy 9B, proximal, with minicore lesions; Congenital myopathy 9A with respiratory insufficiency and bone fractures<\/td>\n<\/tr>\n |
| 601814<\/td> | FXYD2<\/td> | Hypomagnesemia 2, renal<\/td>\n<\/tr>\n |
| 602731<\/td> | FYB1<\/td> | Thrombocytopenia 3<\/td>\n<\/tr>\n |
| 607182<\/td> | FYCO1<\/td> | Cataract 18<\/td>\n<\/tr>\n |
| 600667<\/td> | FZD2<\/td> | Omodysplasia 2<\/td>\n<\/tr>\n |
| 604579<\/td> | FZD4<\/td> | Retinopathy of prematurity; Exudative vitreoretinopathy 1<\/td>\n<\/tr>\n |
| 601723<\/td> | FZD5<\/td> | Microphthalmia\/coloboma 11<\/td>\n<\/tr>\n |
| 603409<\/td> | FZD6<\/td> | Nail disorder, nonsyndromic congenital, 1<\/td>\n<\/tr>\n |
| 603619<\/td> | FZR1<\/td> | Developmental and epileptic encephalopathy 109<\/td>\n<\/tr>\n |
| 613742<\/td> | G6PC1<\/td> | Glycogen storage disease Ia<\/td>\n<\/tr>\n |
| 611045<\/td> | G6PC3<\/td> | Dursun syndrome; Neutropenia, severe congenital 4<\/td>\n<\/tr>\n |
| 305900<\/td> | G6PD<\/td> | Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient, X-linked; Resistance to malaria due to G6PD deficiency<\/td>\n<\/tr>\n |
| 606800<\/td> | GAA<\/td> | Glycogen storage disease II<\/td>\n<\/tr>\n |
| 604439<\/td> | GAB1<\/td> | Deafness 26<\/td>\n<\/tr>\n |
| 603540<\/td> | GABBR1<\/td> | Neurodevelopmental disorder with language delay and variable cognitive abnormalities<\/td>\n<\/tr>\n |
| 607340<\/td> | GABBR2<\/td> | Nicotine dependence, protection against; Nicotine dependence, susceptibility to; Developmental and epileptic encephalopathy 59; Neurodevelopmental disorder with poor language and loss of hand skills<\/td>\n<\/tr>\n |
| 137160<\/td> | GABRA1<\/td> | Epilepsy, juvenile myoclonic, susceptibility to, 5; Developmental and epileptic encephalopathy 19; Epilepsy, childhood absence, susceptibility to, 4<\/td>\n<\/tr>\n |
| 137140<\/td> | GABRA2<\/td> | Developmental and epileptic encephalopathy 78; Alcohol dependence, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 305660<\/td> | GABRA3<\/td> | Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, X-linked<\/td>\n<\/tr>\n |
| 137142<\/td> | GABRA5<\/td> | Developmental and epileptic encephalopathy 79<\/td>\n<\/tr>\n |
| 137190<\/td> | GABRB1<\/td> | Developmental and epileptic encephalopathy 45<\/td>\n<\/tr>\n |
| 600232<\/td> | GABRB2<\/td> | Developmental and epileptic encephalopathy 92<\/td>\n<\/tr>\n |
| 137192<\/td> | GABRB3<\/td> | Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy 43<\/td>\n<\/tr>\n |
| 137163<\/td> | GABRD<\/td> | Generalized epilepsy with febrile seizures plus, type 5, susceptibility to<\/td>\n<\/tr>\n |
| 137164<\/td> | GABRG2<\/td> | Developmental and epileptic encephalopathy 74; Febrile seizures, familial, 8; Generalized epilepsy with febrile seizures plus, type 3<\/td>\n<\/tr>\n |
| 605363<\/td> | GAD1<\/td> | Developmental and epileptic encephalopathy 89<\/td>\n<\/tr>\n |
| 137035<\/td> | GAL<\/td> | Epilepsy, familial temporal lobe, 8<\/td>\n<\/tr>\n |
| 606890<\/td> | GALC<\/td> | Krabbe disease<\/td>\n<\/tr>\n |
| 606953<\/td> | GALE<\/td> | Thrombocytopenia 13, syndromic; Galactose epimerase deficiency<\/td>\n<\/tr>\n |
| 604313<\/td> | GALK1<\/td> | Galactokinase deficiency with cataracts<\/td>\n<\/tr>\n |
| 137030<\/td> | GALM<\/td> | Galactosemia IV<\/td>\n<\/tr>\n |
| 612222<\/td> | GALNS<\/td> | Mucopolysaccharidosis IVA<\/td>\n<\/tr>\n |
| 610290<\/td> | GALNT12<\/td> | Colorectal cancer, susceptibility to, 1<\/td>\n<\/tr>\n |
| 602274<\/td> | GALNT2<\/td> | Congenital disorder of glycosylation, type IIt<\/td>\n<\/tr>\n |
| 601756<\/td> | GALNT3<\/td> | Tumoral calcinosis, hyperphosphatemic, familial, 1<\/td>\n<\/tr>\n |
| 606999<\/td> | GALT<\/td> | Galactosemia<\/td>\n<\/tr>\n |
| 601240<\/td> | GAMT<\/td> | Cerebral creatine deficiency syndrome 2<\/td>\n<\/tr>\n |
| 605379<\/td> | GAN<\/td> | Giant axonal neuropathy-1<\/td>\n<\/tr>\n |
| 104160<\/td> | GANAB<\/td> | Polycystic kidney disease 3<\/td>\n<\/tr>\n |
| 600287<\/td> | GARS1<\/td> | Spinal muscular atrophy, infantile, James type; Neuronopathy, distal hereditary motor 5; Charcot-Marie-Tooth disease, type 2D<\/td>\n<\/tr>\n |
| 602835<\/td> | GAS2<\/td> | Deafness 125<\/td>\n<\/tr>\n |
| 611398<\/td> | GAS2L2<\/td> | Ciliary dyskinesia, primary, 41<\/td>\n<\/tr>\n |
| 605178<\/td> | GAS8<\/td> | Ciliary dyskinesia, primary, 33<\/td>\n<\/tr>\n |
| 305371<\/td> | GATA1<\/td> | Anemia, congenital, nonspherocytic hemolytic, 9, X-linked recessive; Leukemia, megakaryoblastic, with or without Down syndrome, somatic; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive; Anemia, X-linked, with\/without neutropenia and\/or platelet abnormalities, X-linked recessive; Thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 137295<\/td> | GATA2<\/td> | Leukemia, acute myeloid, susceptibility to, Somatic mutation; Emberger syndrome; Immunodeficiency 21; Myelodysplastic syndrome, susceptibility to<\/td>\n<\/tr>\n |
| 131320<\/td> | GATA3<\/td> | Hypoparathyroidism, sensorineural deafness, and renal dysplasia<\/td>\n<\/tr>\n |
| 600576<\/td> | GATA4<\/td> | Tetralogy of Fallot; Atrial septal defect 2; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease<\/td>\n<\/tr>\n |
| 611496<\/td> | GATA5<\/td> | Congenital heart defects, multiple types, 5<\/td>\n<\/tr>\n |
| 601656<\/td> | GATA6<\/td> | Atrial septal defect 9; Persistent truncus arteriosus; Pancreatic agenesis and congenital heart defects; Atrioventricular septal defect 5; Tetralogy of Fallot<\/td>\n<\/tr>\n |
| 614518<\/td> | GATAD1<\/td> | Cardiomyopathy, dilated, 2B<\/td>\n<\/tr>\n |
| 614998<\/td> | GATAD2B<\/td> | GAND syndrome<\/td>\n<\/tr>\n |
| 603645<\/td> | GATB<\/td> | Combined oxidative phosphorylation deficiency 41<\/td>\n<\/tr>\n |
| 617210<\/td> | GATC<\/td> | Combined oxidative phosphorylation deficiency 42<\/td>\n<\/tr>\n |
| 602360<\/td> | GATM<\/td> | Cerebral creatine deficiency syndrome 3; Fanconi renotubular syndrome 1<\/td>\n<\/tr>\n |
| 606463<\/td> | GBA1<\/td> | Lewy body dementia, susceptibility to; Gaucher disease, type II; Gaucher disease, type IIIC; Gaucher disease, type III; Gaucher disease, type I; Gaucher disease, perinatal lethal; Parkinson disease, late-onset, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 609471<\/td> | GBA2<\/td> | Spastic paraplegia 46<\/td>\n<\/tr>\n |
| 609918<\/td> | GBD2<\/td> | Gallbladder disease 2<\/td>\n<\/tr>\n |
| 609919<\/td> | GBD3<\/td> | Gallbladder disease 3<\/td>\n<\/tr>\n |
| 607839<\/td> | GBE1<\/td> | Glycogen storage disease IV; Polyglucosan body disease, adult form<\/td>\n<\/tr>\n |
| 603698<\/td> | GBF1<\/td> | Charcot-Marie-Tooth disease, axonal, type 2GG<\/td>\n<\/tr>\n |
| 609197<\/td> | GCCD3<\/td> | Glucocorticoid deficiency 3<\/td>\n<\/tr>\n |
| 608801<\/td> | GCDH<\/td> | Glutaricaciduria, type I<\/td>\n<\/tr>\n |
| 138033<\/td> | GCGR<\/td> | Mahvash disease<\/td>\n<\/tr>\n |
| 600225<\/td> | GCH1<\/td> | Dystonia, DOPA-responsive; Hyperphenylalaninemia, BH4-deficient, B<\/td>\n<\/tr>\n |
| 138079<\/td> | GCK<\/td> | MODY, type II; Diabetes mellitus, permanent neonatal 1; Hyperinsulinemic hypoglycemia, familial, 3; Diabetes mellitus, noninsulin-dependent, late onset<\/td>\n<\/tr>\n |
| 600842<\/td> | GCKR<\/td> | Fasting plasma glucose level QTL 5<\/td>\n<\/tr>\n |
| 606857<\/td> | GCLC<\/td> | Myocardial infarction, susceptibility to; Anemia, congenital, nonspherocytic hemolytic, 7<\/td>\n<\/tr>\n |
| 601176<\/td> | GCLM<\/td> | Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 603716<\/td> | GCM2<\/td> | Hypoparathyroidism, familial isolated 2; Hyperparathyroidism 4<\/td>\n<\/tr>\n |
| 300369<\/td> | GCNA<\/td> | Spermatogenic failure, X-linked, 4, X-linked<\/td>\n<\/tr>\n |
| 600429<\/td> | GCNT2<\/td> | Blood group, Ii; Adult i phenotype without cataract; Cataract 13 with adult i phenotype<\/td>\n<\/tr>\n |
| 238330<\/td> | GCSH<\/td> | Multiple mitochondrial dysfunctions syndrome 7<\/td>\n<\/tr>\n |
| 606598<\/td> | GDAP1<\/td> | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, type 4A<\/td>\n<\/tr>\n |
| 618128<\/td> | GDAP2<\/td> | Spinocerebellar ataxia 27<\/td>\n<\/tr>\n |
| 602880<\/td> | GDF1<\/td> | Congenital heart defects, multiple types, 6; Right atrial isomerism (Ivemark)<\/td>\n<\/tr>\n |
| 603936<\/td> | GDF11<\/td> | Vertebral hypersegmentation and orofacial anomalies<\/td>\n<\/tr>\n |
| 605312<\/td> | GDF15<\/td> | Hyperemesis gravidarum, susceptibility to<\/td>\n<\/tr>\n |
| 605120<\/td> | GDF2<\/td> | Telangiectasia, hereditary hemorrhagic, type 5<\/td>\n<\/tr>\n |
| 606522<\/td> | GDF3<\/td> | Klippel-Feil syndrome 3; Microphthalmia, isolated, with coloboma 6; Microphthalmia, isolated 7<\/td>\n<\/tr>\n |
| 601146<\/td> | GDF5<\/td> | Acromesomelic dysplasia 2A; Acromesomelic dysplasia 2B; Multiple synostoses syndrome 2; Symphalangism, proximal, 1B; Brachydactyly, type A2; Acromesomelic dysplasia 2C, Hunter-Thompson type; Brachydactyly, type C; Osteoarthritis-5; Brachydactyly, type A1, C<\/td>\n<\/tr>\n |
| 601147<\/td> | GDF6<\/td> | Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4; Leber congenital amaurosis 17; Multiple synostoses syndrome 4; Klippel-Feil syndrome 1<\/td>\n<\/tr>\n |
| 601918<\/td> | GDF9<\/td> | Premature ovarian failure 14<\/td>\n<\/tr>\n |
| 300104<\/td> | GDI1<\/td> | Intellectual developmental disorder, X-linked 41, X-linked dominant<\/td>\n<\/tr>\n |
| 600837<\/td> | GDNF<\/td> | Hirschsprung disease, susceptibility to, 3<\/td>\n<\/tr>\n |
| 609800<\/td> | GEFSP4<\/td> | Generalized epilepsy with febrile seizures plus, type 4<\/td>\n<\/tr>\n |
| 612279<\/td> | GEFSP6<\/td> | Generalized epilepsy with febrile seizures plus, type 6<\/td>\n<\/tr>\n |
| 613863<\/td> | GEFSP7<\/td> | Generalized epilepsy with febrile seizures plus, type 7<\/td>\n<\/tr>\n |
| 613828<\/td> | GEFSP8<\/td> | Generalized epilepsy with febrile seizures plus, type 8<\/td>\n<\/tr>\n |
| 606969<\/td> | GEMIN4<\/td> | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities<\/td>\n<\/tr>\n |
| 607005<\/td> | GEMIN5<\/td> | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction<\/td>\n<\/tr>\n |
| 109350<\/td> | GER<\/td> | Gastroesophageal reflux<\/td>\n<\/tr>\n |
| 601913<\/td> | GET3<\/td> | Cardiomyopathy, dilated, 2H<\/td>\n<\/tr>\n |
| 612056<\/td> | GET4<\/td> | Congenital disorder of glycosylation, type IIy<\/td>\n<\/tr>\n |
| 608875<\/td> | GEVQ1<\/td> | Gene expression, variation in, QTL<\/td>\n<\/tr>\n |
| 608878<\/td> | GEVQ2<\/td> | Gene expression, variation in, QTL<\/td>\n<\/tr>\n |
| 137780<\/td> | GFAP<\/td> | Alexander disease<\/td>\n<\/tr>\n |
| 600924<\/td> | GFER<\/td> | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay<\/td>\n<\/tr>\n |
| 600871<\/td> | GFI1<\/td> | Neutropenia, nonimmune chronic idiopathic, of adults; Neutropenia, severe congenital 2<\/td>\n<\/tr>\n |
| 604383<\/td> | GFI1B<\/td> | Bleeding disorder, platelet-type, 17<\/td>\n<\/tr>\n |
| 606639<\/td> | GFM1<\/td> | Combined oxidative phosphorylation deficiency 1<\/td>\n<\/tr>\n |
| 606544<\/td> | GFM2<\/td> | Combined oxidative phosphorylation deficiency 39<\/td>\n<\/tr>\n |
| 137950<\/td> | GFND1<\/td> | Glomerulopathy with fibronectin deposits 1<\/td>\n<\/tr>\n |
| 138292<\/td> | GFPT1<\/td> | Myasthenia, congenital, 12, with tubular aggregates<\/td>\n<\/tr>\n |
| 601496<\/td> | GFRA1<\/td> | Renal hypodysplasia\/aplasia 4<\/td>\n<\/tr>\n |
| 137167<\/td> | GGCX<\/td> | Vitamin K-dependent clotting factors, combined deficiency of, 1; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency<\/td>\n<\/tr>\n |
| 609966<\/td> | GGN<\/td> | Spermatogenic failure 69<\/td>\n<\/tr>\n |
| 606982<\/td> | GGPS1<\/td> | Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome<\/td>\n<\/tr>\n |
| 612346<\/td> | GGT1<\/td> | Glutathioninuria<\/td>\n<\/tr>\n |
| 137181<\/td> | GGT2P<\/td> | Gamma-glutamyltransferase, familial high serum<\/td>\n<\/tr>\n |
| 139250<\/td> | GH1<\/td> | Kowarski syndrome; Growth hormone deficiency, isolated, type II; Growth hormone deficiency, isolated, type IB; Growth hormone deficiency, isolated, type IA<\/td>\n<\/tr>\n |
| 600946<\/td> | GHR<\/td> | Laron dwarfism; Increased responsiveness to growth hormone; Growth hormone insensitivity, partial; Hypercholesterolemia, familial, modifier of<\/td>\n<\/tr>\n |
| 139190<\/td> | GHRH<\/td> | Gigantism due to GHRF hypersecretion; Isolated growth hormone deficiency due to defect in GHRF<\/td>\n<\/tr>\n |
| 139191<\/td> | GHRHR<\/td> | Growth hormone deficiency, isolated, type IV<\/td>\n<\/tr>\n |
| 605353<\/td> | GHRL<\/td> | Obesity, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 601898<\/td> | GHSR<\/td> | Growth hormone deficiency, isolated partial<\/td>\n<\/tr>\n |
| 612003<\/td> | GIGYF2<\/td> | Parkinson disease 11<\/td>\n<\/tr>\n |
| 608086<\/td> | GIMAP5<\/td> | Portal hypertension, noncirrhotic, 2<\/td>\n<\/tr>\n |
| 605544<\/td> | GINGF2<\/td> | Fibromatosis, gingival, 2<\/td>\n<\/tr>\n |
| 609955<\/td> | GINGF3<\/td> | Fibromatosis, gingival, 3<\/td>\n<\/tr>\n |
| 611010<\/td> | GINGF4<\/td> | Fibromatosis, gingival, 4<\/td>\n<\/tr>\n |
| 610608<\/td> | GINS1<\/td> | Immunodeficiency 55<\/td>\n<\/tr>\n |
| 605072<\/td> | GIPC1<\/td> | Oculopharyngodistal myopathy 2<\/td>\n<\/tr>\n |
| 608792<\/td> | GIPC3<\/td> | Deafness 15<\/td>\n<\/tr>\n |
| 121014<\/td> | GJA1<\/td> | Erythrokeratodermia variabilis et progressiva 3; Craniometaphyseal dysplasia; Oculodentodigital dysplasia; Palmoplantar keratoderma with congenital alopecia; Syndactyly, type III; Oculodentodigital dysplasia<\/td>\n<\/tr>\n |
| 121015<\/td> | GJA3<\/td> | Cataract 14, multiple types<\/td>\n<\/tr>\n |
| 121013<\/td> | GJA5<\/td> | Atrial fibrillation, familial, 11; Atrial standstill, digenic (GJA5\/SCN5A)<\/td>\n<\/tr>\n |
| 600897<\/td> | GJA8<\/td> | Cataract 1, multiple types<\/td>\n<\/tr>\n |
| 304040<\/td> | GJB1<\/td> | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant<\/td>\n<\/tr>\n |
| 121011<\/td> | GJB2<\/td> | Keratoderma, palmoplantar, with deafness; Deafness 1A, Digenic dominant; Deafness 3A; Hystrix-like ichthyosis with deafness; Bart-Pumphrey syndrome; Keratitis-ichthyosis-deafness syndrome; Vohwinkel syndrome<\/td>\n<\/tr>\n |
| 603324<\/td> | GJB3<\/td> | Deafness, digenic, GJB2\/GJB3, Digenic dominant; Erythrokeratodermia variabilis et progressiva 1; Deafness 2B, with or without peripheral neuropathy<\/td>\n<\/tr>\n |
| 605425<\/td> | GJB4<\/td> | Erythrokeratodermia variabilis et progressiva 2<\/td>\n<\/tr>\n |
| 604418<\/td> | GJB6<\/td> | Ectodermal dysplasia 2, Clouston type; Deafness 3B; Deafness 1B; Deafness, digenic GJB2\/GJB6, Digenic dominant<\/td>\n<\/tr>\n |
| 608803<\/td> | GJC2<\/td> | Lymphatic malformation 3; Spastic paraplegia 44; Leukodystrophy, hypomyelinating, 2<\/td>\n<\/tr>\n |
| 300474<\/td> | GK<\/td> | Glycerol kinase deficiency, X-linked recessive<\/td>\n<\/tr>\n |
| 300644<\/td> | GLA<\/td> | Fabry disease, cardiac variant, X-linked; Fabry disease, X-linked<\/td>\n<\/tr>\n |
| 611458<\/td> | GLB1<\/td> | GM1-gangliosidosis, type I; GM1-gangliosidosis, type III; Mucopolysaccharidosis type IVB (Morquio); GM1-gangliosidosis, type II<\/td>\n<\/tr>\n |
| 606689<\/td> | GLC1B<\/td> | Glaucoma 1B, primary open angle, adult onset<\/td>\n<\/tr>\n |
| 601682<\/td> | GLC1C<\/td> | Glaucoma 1C, primary open angle<\/td>\n<\/tr>\n |
| 602429<\/td> | GLC1D<\/td> | Glaucoma 1D, primary open angle<\/td>\n<\/tr>\n |
| 609745<\/td> | GLC1I<\/td> | Glaucoma 1, open angle, I<\/td>\n<\/tr>\n |
| 608695<\/td> | GLC1J<\/td> | Glaucoma, primary open angle, juvenile-onset, 2<\/td>\n<\/tr>\n |
| 608696<\/td> | GLC1K<\/td> | Glaucoma 1K, primary open angle, juvenile-onset<\/td>\n<\/tr>\n |
| 610535<\/td> | GLC1M<\/td> | Glaucoma 1, open angle, M<\/td>\n<\/tr>\n |
| 611274<\/td> | GLC1N<\/td> | Glaucoma 1, open angle, N<\/td>\n<\/tr>\n |
| 600975<\/td> | GLC3B<\/td> | Glaucoma 3, primary infantile, B<\/td>\n<\/tr>\n |
| 613085<\/td> | GLC3C<\/td> | Glaucoma 3, primary congenital, C<\/td>\n<\/tr>\n |
| 614283<\/td> | GLCCI1<\/td> | Glucocorticoid therapy, response to<\/td>\n<\/tr>\n |
| 238300<\/td> | GLDC<\/td> | Glycine encephalopathy1<\/td>\n<\/tr>\n |
| 608603<\/td> | GLDN<\/td> | Lethal congenital contracture syndrome 11<\/td>\n<\/tr>\n |
| 603371<\/td> | GLE1<\/td> | Lethal congenital contracture syndrome 1; Congenital arthrogryposis with anterior horn cell disease<\/td>\n<\/tr>\n |
| 165220<\/td> | GLI1<\/td> | Polydactyly, preaxial I; Polydactyly, postaxial, type A8<\/td>\n<\/tr>\n |
| 165230<\/td> | GLI2<\/td> | Culler-Jones syndrome; Holoprosencephaly 9<\/td>\n<\/tr>\n |
| 165240<\/td> | GLI3<\/td> | Greig cephalopolysyndactyly syndrome; Polydactyly, postaxial, types A1 and B; Pallister-Hall syndrome; Polydactyly, preaxial, type IV<\/td>\n<\/tr>\n |
| 608539<\/td> | GLIS2<\/td> | Nephronophthisis 7<\/td>\n<\/tr>\n |
| 610192<\/td> | GLIS3<\/td> | Diabetes mellitus, neonatal, with congenital hypothyroidism<\/td>\n<\/tr>\n |
| 607248<\/td> | GLM4<\/td> | Glioma susceptibility 4<\/td>\n<\/tr>\n |
| 613030<\/td> | GLM5<\/td> | Glioma susceptibility 5<\/td>\n<\/tr>\n |
| 613031<\/td> | GLM6<\/td> | Glioma susceptibility 6<\/td>\n<\/tr>\n |
| 613033<\/td> | GLM8<\/td> | Glioma susceptibility 8<\/td>\n<\/tr>\n |
| 601749<\/td> | GLMN<\/td> | Glomuvenous malformations<\/td>\n<\/tr>\n |
| 138491<\/td> | GLRA1<\/td> | Hyperekplexia 1<\/td>\n<\/tr>\n |
| 305990<\/td> | GLRA2<\/td> | Intellectual developmental disorder, X-linked syndromic, Pilorge type, X-linked<\/td>\n<\/tr>\n |
| 138492<\/td> | GLRB<\/td> | Hyperekplexia 2<\/td>\n<\/tr>\n |
| 609588<\/td> | GLRX5<\/td> | Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia<\/td>\n<\/tr>\n |
| 138280<\/td> | GLS<\/td> | Global developmental delay, progressive ataxia, and elevated glutamine; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development; Developmental and epileptic encephalopathy 71<\/td>\n<\/tr>\n |
| 138130<\/td> | GLUD1<\/td> | Hyperinsulinism-hyperammonemia syndrome<\/td>\n<\/tr>\n |
| 138290<\/td> | GLUL<\/td> | Glutamine deficiency, congenital; Developmental and epileptic encephalopathy 116<\/td>\n<\/tr>\n |
| 610516<\/td> | GLYCTK<\/td> | D-glyceric aciduria<\/td>\n<\/tr>\n |
| 613109<\/td> | GM2A<\/td> | GM2-gangliosidosis, AB variant<\/td>\n<\/tr>\n |
| 602842<\/td> | GMNN<\/td> | Meier-Gorlin syndrome 6<\/td>\n<\/tr>\n |
| 615495<\/td> | GMPPA<\/td> | Alacrima, achalasia, and impaired intellectual development syndrome<\/td>\n<\/tr>\n |
| 615320<\/td> | GMPPB<\/td> | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14<\/td>\n<\/tr>\n |
| 139313<\/td> | GNA11<\/td> | Hypocalciuric hypercalcemia, type II; Hypocalcemia 2<\/td>\n<\/tr>\n |
| 139310<\/td> | GNAI1<\/td> | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities<\/td>\n<\/tr>\n |
| 139360<\/td> | GNAI2<\/td> | Ventricular tachycardia, idiopathic; Pituitary adenoma, ACTH-secreting, somatic<\/td>\n<\/tr>\n |
| 139370<\/td> | GNAI3<\/td> | Auriculocondylar syndrome 1<\/td>\n<\/tr>\n |
| 139312<\/td> | GNAL<\/td> | Dystonia 25<\/td>\n<\/tr>\n |
| 139311<\/td> | GNAO1<\/td> | Developmental and epileptic encephalopathy 17; Neurodevelopmental disorder with involuntary movements<\/td>\n<\/tr>\n |
| 600998<\/td> | GNAQ<\/td> | Capillary malformations, congenital, 1, somatic, mosaic; Sturge-Weber syndrome, somatic, mosaic<\/td>\n<\/tr>\n |
| 139320<\/td> | GNAS<\/td> | ACTH-independent macronodular adrenal hyperplasia, Somatic mutation; Pituitary adenoma 3, multiple types, somatic; Pseudohypoparathyroidism Ic; Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; Pseudohypoparathyroidism Ib; McCune-Albright syndrome, somatic, mosaic; Pseudopseudohypoparathyroidism<\/td>\n<\/tr>\n |
| 610540<\/td> | GNAS-AS1<\/td> | Pseudohypoparathyroidism Ib<\/td>\n<\/tr>\n |
| 139330<\/td> | GNAT1<\/td> | Night blindness, congenital stationary 3; Night blindness, congenital stationary, type 1G<\/td>\n<\/tr>\n |
| 139340<\/td> | GNAT2<\/td> | Achromatopsia 4<\/td>\n<\/tr>\n |
| 139380<\/td> | GNB1<\/td> | Myelodysplastic syndrome, somatic; Leukemia, acute lymphoblastic, somatic; Intellectual developmental disorder 42<\/td>\n<\/tr>\n |
| 139390<\/td> | GNB2<\/td> | Neurodevelopmental disorder with hypotonia and dysmorphic facies; Sick sinus syndrome 4<\/td>\n<\/tr>\n |
| 139130<\/td> | GNB3<\/td> | Night blindness, congenital stationary, type 1H; Hypertension, essential, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 610863<\/td> | GNB4<\/td> | Charcot-Marie-Tooth disease, dominant intermediate F<\/td>\n<\/tr>\n |
| 604447<\/td> | GNB5<\/td> | Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia<\/td>\n<\/tr>\n |
| 603824<\/td> | GNE<\/td> | Sialuria; Thrombocytopenia 12 with or without myopathy; Nonaka myopathy<\/td>\n<\/tr>\n |
| 606628<\/td> | GNMT<\/td> | Glycine N-methyltransferase deficiency<\/td>\n<\/tr>\n |
| 602744<\/td> | GNPAT<\/td> | Rhizomelic chondrodysplasia punctata, type 2<\/td>\n<\/tr>\n |
| 616510<\/td> | GNPNAT1<\/td> | Rhizomelic dysplasia, Ain-Naz type<\/td>\n<\/tr>\n |
| 607840<\/td> | GNPTAB<\/td> | Mucolipidosis III alpha\/beta; Mucolipidosis II alpha\/beta<\/td>\n<\/tr>\n |
| 607838<\/td> | GNPTG<\/td> | Mucolipidosis III gamma<\/td>\n<\/tr>\n |
| 152760<\/td> | GNRH1<\/td> | Hypogonadotropic hypogonadism 12 with or without anosmia<\/td>\n<\/tr>\n |
| 138850<\/td> | GNRHR<\/td> | Hypogonadotropic hypogonadism 7 without anosmia<\/td>\n<\/tr>\n |
| 607664<\/td> | GNS<\/td> | Mucopolysaccharidosis type IIID<\/td>\n<\/tr>\n |
| 602580<\/td> | GOLGA2<\/td> | Developmental delay with hypotonia, myopathy, and brain abnormalities<\/td>\n<\/tr>\n |
| 617436<\/td> | GON7<\/td> | Galloway-Mowat syndrome 9<\/td>\n<\/tr>\n |
| 607983<\/td> | GORAB<\/td> | Geroderma osteodysplasticum<\/td>\n<\/tr>\n |
| 604027<\/td> | GOSR2<\/td> | Epilepsy, progressive myoclonic 6; Muscular dystrophy, congenital, with or without seizures<\/td>\n<\/tr>\n |
| 138180<\/td> | GOT1<\/td> | Aspartate aminotransferase, serum level of, QTL1<\/td>\n<\/tr>\n |
| 138150<\/td> | GOT2<\/td> | Developmental and epileptic encephalopathy 82<\/td>\n<\/tr>\n |
| 606672<\/td> | GP1BA<\/td> | Bernard-Soulier syndrome, type A1 (recessive); Bernard-Soulier syndrome, type A2 (dominant); von Willebrand disease, platelet-type; Nonarteritic anterior ischemic optic neuropathy, susceptibility to<\/td>\n<\/tr>\n |
| 138720<\/td> | GP1BB<\/td> | Giant platelet disorder, isolated; Bernard-Soulier syndrome, type B<\/td>\n<\/tr>\n |
| 605546<\/td> | GP6<\/td> | Bleeding disorder, platelet-type, 11<\/td>\n<\/tr>\n |
| 173515<\/td> | GP9<\/td> | Bernard-Soulier syndrome, type C<\/td>\n<\/tr>\n |
| 603048<\/td> | GPAA1<\/td> | Glycosylphosphatidylinositol biosynthesis defect 15<\/td>\n<\/tr>\n |
| 300037<\/td> | GPC3<\/td> | Wilms tumor, somatic; Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive<\/td>\n<\/tr>\n |
| 300168<\/td> | GPC4<\/td> | Keipert syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 604404<\/td> | GPC6<\/td> | Omodysplasia 1<\/td>\n<\/tr>\n |
| 138420<\/td> | GPD1<\/td> | Hypertriglyceridemia, transient infantile<\/td>\n<\/tr>\n |
| 611778<\/td> | GPD1L<\/td> | Brugada syndrome 2<\/td>\n<\/tr>\n |
| 138430<\/td> | GPD2<\/td> | Type 2 diabetes mellitus, susceptibility to<\/td>\n<\/tr>\n |
| 600510<\/td> | GPDS1<\/td> | Ocular pigment dispersion with or without glaucoma<\/td>\n<\/tr>\n |
| 603930<\/td> | GPHN<\/td> | Molybdenum cofactor deficiency C<\/td>\n<\/tr>\n |
| 172400<\/td> | GPI<\/td> | Anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient<\/td>\n<\/tr>\n |
| 612757<\/td> | GPIHBP1<\/td> | Hyperlipoproteinemia, type 1D<\/td>\n<\/tr>\n |
| 604368<\/td> | GPNMB<\/td> | Amyloidosis, primary localized cutaneous, 3<\/td>\n<\/tr>\n |
| 300393<\/td> | GPR101<\/td> | Pituitary adenoma 2, GH-secreting, X-linked<\/td>\n<\/tr>\n |
| 300808<\/td> | GPR143<\/td> | Ocular albinism, type I, Nettleship-Falls type, X-linked; Nystagmus 6, congenital, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 610464<\/td> | GPR156<\/td> | Deafness 121<\/td>\n<\/tr>\n |
| 612250<\/td> | GPR161<\/td> | Medulloblastoma predisposition syndrome, Somatic mutation<\/td>\n<\/tr>\n |
| 614515<\/td> | GPR179<\/td> | Night blindness, congenital stationary (complete), 1E<\/td>\n<\/tr>\n |
| 601404<\/td> | GPR68<\/td> | Amelogenesis imperfecta, hypomaturation type, IIA6<\/td>\n<\/tr>\n |
| 607468<\/td> | GPR88<\/td> | Chorea, childhood-onset, with psychomotor retardation<\/td>\n<\/tr>\n |
| 300969<\/td> | GPRASP2<\/td> | Deafness, X-linked 7, X-linked recessive<\/td>\n<\/tr>\n |
| 605948<\/td> | GPRC5B<\/td> | Megalencephalic leukoencephalopathy with subcortical cysts 3<\/td>\n<\/tr>\n |
| 609245<\/td> | GPSM2<\/td> | Chudley-McCullough syndrome<\/td>\n<\/tr>\n |
| 138210<\/td> | GPT2<\/td> | Neurodevelopmental disorder with microcephaly and spastic paraplegia<\/td>\n<\/tr>\n |
| 138320<\/td> | GPX1<\/td> | Hemolytic anemia due to glutathione peroxidase deficiency<\/td>\n<\/tr>\n |
| 138322<\/td> | GPX4<\/td> | Spondylometaphyseal dysplasia, Sedaghatian type<\/td>\n<\/tr>\n |
| 604330<\/td> | GRAP<\/td> | Deafness 114<\/td>\n<\/tr>\n |
| 275000<\/td> | GRD1<\/td> | Graves disease, susceptibility to, 1<\/td>\n<\/tr>\n |
| 603388<\/td> | GRD2<\/td> | Graves disease, susceptibility to, 2<\/td>\n<\/tr>\n |
| 300351<\/td> | GRDX<\/td> | Graves disease, susceptibility to, X-linked<\/td>\n<\/tr>\n |
| 617782<\/td> | GREB1L<\/td> | Deafness 80; Renal hypodysplasia\/aplasia 3<\/td>\n<\/tr>\n |
| 608832<\/td> | GREM2<\/td> | Tooth agenesis, selective, 9<\/td>\n<\/tr>\n |
| 608576<\/td> | GRHL2<\/td> | Deafness 28; Ectodermal dysplasia\/short stature syndrome; Corneal dystrophy, posterior polymorphous, 4<\/td>\n<\/tr>\n |
| 608317<\/td> | GRHL3<\/td> | van der Woude syndrome 2<\/td>\n<\/tr>\n |
| 604296<\/td> | GRHPR<\/td> | Hyperoxaluria, primary, type II<\/td>\n<\/tr>\n |
| 138248<\/td> | GRIA1<\/td> | Intellectual developmental disorder 76; Intellectual developmental disorder 67<\/td>\n<\/tr>\n |
| 138247<\/td> | GRIA2<\/td> | Neurodevelopmental disorder with language impairment and behavioral abnormalities<\/td>\n<\/tr>\n |
| 305915<\/td> | GRIA3<\/td> | Intellectual developmental disorder, X-linked syndromic, Wu type, X-linked recessive<\/td>\n<\/tr>\n |
| 138246<\/td> | GRIA4<\/td> | Neurodevelopmental disorder with or without seizures and gait abnormalities<\/td>\n<\/tr>\n |
| 602368<\/td> | GRID2<\/td> | Spinocerebellar ataxia 18<\/td>\n<\/tr>\n |
| 138244<\/td> | GRIK2<\/td> | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures; Intellectual developmental disorder 6<\/td>\n<\/tr>\n |
| 138249<\/td> | GRIN1<\/td> | Neurodevelopmental disorder with or without hyperkinetic movements and seizures; Developmental and epileptic encephalopathy 101; Neurodevelopmental disorder with or without hyperkinetic movements and seizures<\/td>\n<\/tr>\n |
| 138253<\/td> | GRIN2A<\/td> | Epilepsy, focal, with speech disorder and with or without impaired intellectual development<\/td>\n<\/tr>\n |
| 138252<\/td> | GRIN2B<\/td> | Developmental and epileptic encephalopathy 27; Intellectual developmental disorder 6, with or without seizures<\/td>\n<\/tr>\n |
| 602717<\/td> | GRIN2D<\/td> | Developmental and epileptic encephalopathy 46<\/td>\n<\/tr>\n |
| 604597<\/td> | GRIP1<\/td> | Fraser syndrome 3<\/td>\n<\/tr>\n |
| 180381<\/td> | GRK1<\/td> | Oguchi disease-2<\/td>\n<\/tr>\n |
| 604473<\/td> | GRM1<\/td> | Spinocerebellar ataxia 13; Spinocerebellar ataxia 44<\/td>\n<\/tr>\n |
| 604096<\/td> | GRM6<\/td> | Night blindness, congenital stationary (complete), 1B<\/td>\n<\/tr>\n |
| 604101<\/td> | GRM7<\/td> | Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities<\/td>\n<\/tr>\n |
| 138945<\/td> | GRN<\/td> | Frontotemporal dementia 2; Aphasia, primary progressive; Ceroid lipofuscinosis, neuronal, 11<\/td>\n<\/tr>\n |
| 613283<\/td> | GRXCR1<\/td> | Deafness 25<\/td>\n<\/tr>\n |
| 615762<\/td> | GRXCR2<\/td> | Deafness 101<\/td>\n<\/tr>\n |
| 138890<\/td> | GSC<\/td> | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities<\/td>\n<\/tr>\n |
| 608798<\/td> | GSDME<\/td> | Deafness 5<\/td>\n<\/tr>\n |
| 190100<\/td> | GSM1<\/td> | Geniospasm<\/td>\n<\/tr>\n |
| 137350<\/td> | GSN<\/td> | Amyloidosis, Finnish type<\/td>\n<\/tr>\n |
| 138300<\/td> | GSR<\/td> | Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient<\/td>\n<\/tr>\n |
| 601002<\/td> | GSS<\/td> | Anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient; Glutathione synthetase deficiency<\/td>\n<\/tr>\n |
| 603758<\/td> | GSTZ1<\/td> | Maleylacetoacetate isomerase deficiency<\/td>\n<\/tr>\n |
| 616253<\/td> | GSX2<\/td> | Diencephalic-mesencephalic junction dysplasia syndrome 2<\/td>\n<\/tr>\n |
| 189964<\/td> | GTF2E2<\/td> | Trichothiodystrophy 6, nonphotosensitive<\/td>\n<\/tr>\n |
| 608780<\/td> | GTF2H5<\/td> | Trichothiodystrophy 3, photosensitive<\/td>\n<\/tr>\n |
| 602245<\/td> | GTPBP1<\/td> | Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1<\/td>\n<\/tr>\n |
| 607434<\/td> | GTPBP2<\/td> | Jaberi-Elahi syndrome<\/td>\n<\/tr>\n |
| 608536<\/td> | GTPBP3<\/td> | Combined oxidative phosphorylation deficiency 23<\/td>\n<\/tr>\n |
| 600364<\/td> | GUCA1A<\/td> | Cone-rod dystrophy 14; Cone dystrophy-3<\/td>\n<\/tr>\n |
| 602275<\/td> | GUCA1B<\/td> | Retinitis pigmentosa 48<\/td>\n<\/tr>\n |
| 139396<\/td> | GUCY1A1<\/td> | Moyamoya 6 with achalasia<\/td>\n<\/tr>\n |
| 601330<\/td> | GUCY2C<\/td> | Diarrhea 6; Meconium ileus<\/td>\n<\/tr>\n |
| 600179<\/td> | GUCY2D<\/td> | Cone-rod dystrophy 6; Choroidal dystrophy, central areolar 1; Leber congenital amaurosis 1; Night blindness, congenital stationary, type 1I<\/td>\n<\/tr>\n |
| 617064<\/td> | GUF1<\/td> | Developmental and epileptic encephalopathy 40<\/td>\n<\/tr>\n |
| 240400<\/td> | GULOP<\/td> | Scurvy<\/td>\n<\/tr>\n |
| 611499<\/td> | GUSB<\/td> | Mucopolysaccharidosis VII<\/td>\n<\/tr>\n |
| 603942<\/td> | GYG1<\/td> | Glycogen storage disease XV; Polyglucosan body myopathy 2<\/td>\n<\/tr>\n |
| 617922<\/td> | GYPA<\/td> | Malaria, resistance to; Blood group, MNSs system<\/td>\n<\/tr>\n |
| 617923<\/td> | GYPB<\/td> | Blood group, Ss; Malaria, resistance to<\/td>\n<\/tr>\n |
| 110750<\/td> | GYPC<\/td> | Blood group, Gerbich; Malaria, resistance to<\/td>\n<\/tr>\n |
| 138570<\/td> | GYS1<\/td> | Glycogen storage disease 0, muscle<\/td>\n<\/tr>\n |
| 138571<\/td> | GYS2<\/td> | Glycogen storage disease 0, liver<\/td>\n<\/tr>\n |
| 613842<\/td> | GZF1<\/td> | Joint laxity, short stature, and myopia<\/td>\n<\/tr>\n |
| 142220<\/td> | H1-4<\/td> | Rahman syndrome<\/td>\n<\/tr>\n |
| 601128<\/td> | H3-3A<\/td> | Bryant-Li-Bhoj neurodevelopmental syndrome 1<\/td>\n<\/tr>\n |
| 601058<\/td> | H3-3B<\/td> | Bryant-Li-Bhoj neurodevelopmental syndrome 2<\/td>\n<\/tr>\n |
| 602826<\/td> | H4C11<\/td> | Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2<\/td>\n<\/tr>\n |
| 602827<\/td> | H4C3<\/td> | Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1<\/td>\n<\/tr>\n |
| 602830<\/td> | H4C5<\/td> | Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3<\/td>\n<\/tr>\n |
| 602833<\/td> | H4C9<\/td> | Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4<\/td>\n<\/tr>\n |
| 138090<\/td> | H6PD<\/td> | Cortisone reductase deficiency 1<\/td>\n<\/tr>\n |
| 604521<\/td> | HAAO<\/td> | Vertebral, cardiac, renal, and limb defects syndrome 1<\/td>\n<\/tr>\n |
| 603924<\/td> | HABP2<\/td> | Thyroid cancer, nonmedullary, 5; Venous thromboembolism, susceptibility to<\/td>\n<\/tr>\n |
| 610467<\/td> | HACD1<\/td> | Congenital myopathy 11<\/td>\n<\/tr>\n |
| 610876<\/td> | HACE1<\/td> | Spastic paraplegia and psychomotor retardation with or without seizures<\/td>\n<\/tr>\n |
| 601609<\/td> | HADH<\/td> | Hyperinsulinemic hypoglycemia, familial, 4; 3-hydroxyacyl-CoA dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 600890<\/td> | HADHA<\/td> | HELLP syndrome, maternal, of pregnancy; LCHAD deficiency; Mitochondrial trifunctional protein deficiency 1; Fatty liver, acute, of pregnancy<\/td>\n<\/tr>\n |
| 143450<\/td> | HADHB<\/td> | Mitochondrial trifunctional protein deficiency 2<\/td>\n<\/tr>\n |
| 138760<\/td> | HAGH<\/td> | Glyoxalase II deficiency<\/td>\n<\/tr>\n |
| 609457<\/td> | HAL<\/td> | Histidinemia<\/td>\n<\/tr>\n |
| 606464<\/td> | HAMP<\/td> | Hemochromatosis, type 2B<\/td>\n<\/tr>\n |
| 142810<\/td> | HARS1<\/td> | Charcot-Marie-Tooth disease, axonal, type 2W; Usher syndrome type 3B<\/td>\n<\/tr>\n |
| 600783<\/td> | HARS2<\/td> | Perrault syndrome 2<\/td>\n<\/tr>\n |
| 606652<\/td> | HAVCR2<\/td> | T-cell lymphoma, subcutaneous panniculitis-like<\/td>\n<\/tr>\n |
| 605998<\/td> | HAX1<\/td> | Neutropenia, severe congenital 3<\/td>\n<\/tr>\n |
| 141800<\/td> | HBA1<\/td> | Hemoglobin H disease, nondeletional; Thalassemias, alpha-; Heinz body anemias, alpha-; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7<\/td>\n<\/tr>\n |
| 141850<\/td> | HBA2<\/td> | Heinz body anemia; Thalassemia, alpha-; Erythrocytosis, familial, 7; Hemoglobin H disease, deletional and nondeletional<\/td>\n<\/tr>\n |
| 141900<\/td> | HBB<\/td> | Methemoglobinemia, beta type; Thalassemia-beta, dominant inclusion-body; Sickle cell disease; Thalassemia, beta; Delta-beta thalassemia; Malaria, resistance to; Hereditary persistence of fetal hemoglobin; Erythrocytosis, familial, 6; Heinz body anemia<\/td>\n<\/tr>\n |
| 142000<\/td> | HBD<\/td> | Thalassemia due to Hb Lepore; Thalassemia, delta-<\/td>\n<\/tr>\n |
| 126150<\/td> | HBEGF<\/td> | Diphtheria, susceptibility to<\/td>\n<\/tr>\n |
| 142470<\/td> | HBFQTL2<\/td> | Fetal hemoglobin quantitative trait locus 2<\/td>\n<\/tr>\n |
| 606789<\/td> | HBFQTL4<\/td> | Fetal hemoglobin quantitative trait locus 4<\/td>\n<\/tr>\n |
| 142200<\/td> | HBG1<\/td> | Fetal hemoglobin quantitative trait locus 1<\/td>\n<\/tr>\n |
| 142250<\/td> | HBG2<\/td> | Fetal hemoglobin quantitative trait locus 1; Cyanosis, transient neonatal<\/td>\n<\/tr>\n |
| 607258<\/td> | HCA1<\/td> | Hypercalciuria, absorptive<\/td>\n<\/tr>\n |
| 300056<\/td> | HCCS<\/td> | Linear skin defects with multiple congenital anomalies 1, X-linked dominant<\/td>\n<\/tr>\n |
| 300019<\/td> | HCFC1<\/td> | Methylmalonic aciduria and homocysteinemia, cblX type, X-linked recessive<\/td>\n<\/tr>\n |
| 609319<\/td> | HCHGQ1<\/td> | Hematocrit\/hemoglobin quantitative trait locus 1<\/td>\n<\/tr>\n |
| 609320<\/td> | HCHGQ2<\/td> | Hematocrit\/hemoglobin quantitative trait locus 2<\/td>\n<\/tr>\n |
| 613284<\/td> | HCHGQ3<\/td> | Hematocrit\/hemoglobin quantitative trait locus 3<\/td>\n<\/tr>\n |
| 142370<\/td> | HCK<\/td> | Autoinflammation with pulmonary and cutaneous vasculitis<\/td>\n<\/tr>\n |
| 602780<\/td> | HCN1<\/td> | Developmental and epileptic encephalopathy 24; Generalized epilepsy with febrile seizures plus, type 10<\/td>\n<\/tr>\n |
| 602781<\/td> | HCN2<\/td> | Febrile seizures, familial, 2; Epilepsy, idiopathic generalized, susceptibility to, 17; Generalized epilepsy with febrile seizures plus, type 11<\/td>\n<\/tr>\n |
| 605206<\/td> | HCN4<\/td> | Sick sinus syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 18; Brugada syndrome 8<\/td>\n<\/tr>\n |
| 602358<\/td> | HCRT<\/td> | Narcolepsy 1<\/td>\n<\/tr>\n |
| 122460<\/td> | HCVS<\/td> | Human coronavirus sensitivity<\/td>\n<\/tr>\n |
| 605314<\/td> | HDAC4<\/td> | Neurodevelopmental disorder with central hypotonia and dysmorphic facies<\/td>\n<\/tr>\n |
| 300272<\/td> | HDAC6<\/td> | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant<\/td>\n<\/tr>\n |
| 300269<\/td> | HDAC8<\/td> | Cornelia de Lange syndrome 5, X-linked dominant<\/td>\n<\/tr>\n |
| 606543<\/td> | HDAC9<\/td> | Auriculocondylar syndrome 4<\/td>\n<\/tr>\n |
| 142704<\/td> | HDC<\/td> | Gilles de la Tourette syndrome, susceptibility to<\/td>\n<\/tr>\n |
| 123155<\/td> | HDCPH1<\/td> | Hydrocephalus<\/td>\n<\/tr>\n |
| 604802<\/td> | HDL3<\/td> | Huntington disease-like 3<\/td>\n<\/tr>\n |
| 607687<\/td> | HDLC3<\/td> | High density lipoprotein cholesterol, low serum, 3<\/td>\n<\/tr>\n |
| 606613<\/td> | HDLCQ1<\/td> | High density lipoprotein cholesterol level QTL 1<\/td>\n<\/tr>\n |
| 605201<\/td> | HDLCQ14<\/td> | High density lipoprotein cholesterol level QTL14<\/td>\n<\/tr>\n |
| 607053<\/td> | HDLCQ2<\/td> | High density lipoprotein cholesterol level QTL 2<\/td>\n<\/tr>\n |
| 610239<\/td> | HDLCQ4<\/td> | High density lipoprotein cholesterol level QTL 4<\/td>\n<\/tr>\n |
| 610761<\/td> | HDLCQ5<\/td> | High density lipoprotein cholesterol level QTL 5<\/td>\n<\/tr>\n |
| 618979<\/td> | HDLCQ7<\/td> | High density lipoprotein cholesterol level QTL7<\/td>\n<\/tr>\n |
| 300221<\/td> | HDPA<\/td> | Hodgkin disease susceptibility, pseudoautosomal<\/td>\n<\/tr>\n |
| 614951<\/td> | HEATR3<\/td> | Diamond-Blackfan anemia 21<\/td>\n<\/tr>\n |
| 620209<\/td> | HECTD4<\/td> | Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum<\/td>\n<\/tr>\n |
| 617245<\/td> | HECW2<\/td> | Neurodevelopmental disorder with hypotonia, seizures, and absent language<\/td>\n<\/tr>\n |
| 603946<\/td> | HELLS<\/td> | Immunodeficiency-centromeric instability-facial anomalies syndrome 4<\/td>\n<\/tr>\n |
| 611642<\/td> | HEPACAM<\/td> | Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development<\/td>\n<\/tr>\n |
| 618455<\/td> | HEPHL1<\/td> | Abnormal hair, joint laxity, and developmental delay<\/td>\n<\/tr>\n |
| 605109<\/td> | HERC1<\/td> | Macrocephaly, dysmorphic facies, and psychomotor retardation<\/td>\n<\/tr>\n |
| 605837<\/td> | HERC2<\/td> | Intellectual developmental disorder 38; Skin\/hair\/eye pigmentation 1, blond\/brown hair; Skin\/hair\/eye pigmentation 1, blue\/nonblue eyes<\/td>\n<\/tr>\n |
| 608059<\/td> | HES7<\/td> | Spondylocostal dysostosis 4<\/td>\n<\/tr>\n |
| 601802<\/td> | HESX1<\/td> | Pituitary hormone deficiency, combined, 5; Septooptic dysplasia; Growth hormone deficiency with pituitary anomalies<\/td>\n<\/tr>\n |
| 606869<\/td> | HEXA<\/td> | Hex A pseudodeficiency; GM2-gangliosidosis, several forms; Tay-Sachs disease<\/td>\n<\/tr>\n |
| 606873<\/td> | HEXB<\/td> | Sandhoff disease, infantile, juvenile, and adult forms<\/td>\n<\/tr>\n |
| 425500<\/td> | HEY<\/td> | Hairy ears, Y-linked, Y-linked<\/td>\n<\/tr>\n |
| 613609<\/td> | HFE<\/td> | Hemochromatosis, type 1<\/td>\n<\/tr>\n |
| 615684<\/td> | HFM1<\/td> | Premature ovarian failure 9<\/td>\n<\/tr>\n |
| 607474<\/td> | HGD<\/td> | Alkaptonuria<\/td>\n<\/tr>\n |
| 142409<\/td> | HGF<\/td> | Deafness 39<\/td>\n<\/tr>\n |
| 610453<\/td> | HGSNAT<\/td> | Mucopolysaccharidosis type IIIC (Sanfilippo C); Retinitis pigmentosa 73<\/td>\n<\/tr>\n |
| 605743<\/td> | HHAT<\/td> | Nivelon-Nivelon-Mabille syndrome<\/td>\n<\/tr>\n |
| 144110<\/td> | HHPP<\/td> | Hyperhidrosis palmaris et plantaris<\/td>\n<\/tr>\n |
| 601101<\/td> | HHT3<\/td> | Telangiectasia, hereditary hemorrhagic, type 3<\/td>\n<\/tr>\n |
| 610655<\/td> | HHT4<\/td> | Telangiectasia, hereditary hemorrhagic, type 4<\/td>\n<\/tr>\n |
| 614836<\/td> | HHV8S<\/td> | Human herpesvirus 8, susceptibility to<\/td>\n<\/tr>\n |
| 610690<\/td> | HIBCH<\/td> | 3-hydroxyisobutryl-CoA hydrolase deficiency<\/td>\n<\/tr>\n |
| 605752<\/td> | HID1<\/td> | Developmental and epileptic encephalopathy 105 with hypopituitarism<\/td>\n<\/tr>\n |
| 614908<\/td> | HIKESHI<\/td> | Leukodystrophy, hypomyelinating, 13<\/td>\n<\/tr>\n |
| 601314<\/td> | HINT1<\/td> | Neuromyotonia and axonal neuropathy<\/td>\n<\/tr>\n |
| 143054<\/td> | HIVEP2<\/td> | Intellectual developmental disorder 43<\/td>\n<\/tr>\n |
| 608374<\/td> | HJV<\/td> | Hemochromatosis, type 2A<\/td>\n<\/tr>\n |
| 142600<\/td> | HK1<\/td> | Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient; Retinitis pigmentosa 79; Neuropathy, hereditary motor and sensory, Russe type; Neurodevelopmental disorder with visual defects and brain anomalies<\/td>\n<\/tr>\n |
| 617221<\/td> | HKDC1<\/td> | Retinitis pigmentosa 92<\/td>\n<\/tr>\n |
| 142800<\/td> | HLA-A<\/td> | Hypersensitivity syndrome, carbamazepine-induced, susceptibility to<\/td>\n<\/tr>\n |
| 142830<\/td> | HLA-B<\/td> | Synovitis, chronic, susceptibility to; Abacavir hypersensitivity, susceptibility to; Spondyloarthropathy, susceptibility to, 1, Multifactorial; Stevens-Johnson syndrome, susceptibility to; Drug-induced liver injury due to flucloxacillin; Toxic epidermal necrolysis, susceptibility to<\/td>\n<\/tr>\n |
| 142840<\/td> | HLA-C<\/td> | Psoriasis susceptibility 1, Multifactorial; HIV-1 viremia, susceptibility to<\/td>\n<\/tr>\n |
| 142858<\/td> | HLA-DPB1<\/td> | Beryllium disease, chronic, susceptibility to<\/td>\n<\/tr>\n |
| 146880<\/td> | HLA-DQA1<\/td> | Celiac disease, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 604305<\/td> | HLA-DQB1<\/td> | Celiac disease, susceptibility to, Multifactorial; Multiple sclerosis, susceptibility to, 1, Multifactorial; Creutzfeldt-Jakob disease, variant, resistance to<\/td>\n<\/tr>\n |
| 142857<\/td> | HLA-DRB1<\/td> | Multiple sclerosis, susceptibility to, 1, Multifactorial; Sarcoidosis, susceptibility to, 1<\/td>\n<\/tr>\n |
| 142871<\/td> | HLA-G<\/td> | Asthma, susceptibility to<\/td>\n<\/tr>\n |
| 609018<\/td> | HLCS<\/td> | Holocarboxylase synthetase deficiency<\/td>\n<\/tr>\n |
| 609806<\/td> | HMBS<\/td> | Leukoencephalopathy, porphyria-related; Encephalopathy, porphyria-related; Porphyria, acute intermittent, nonerythroid variant; Porphyria, acute intermittent<\/td>\n<\/tr>\n |
| 608548<\/td> | HMCN1<\/td> | Macular degeneration, age-related, 1<\/td>\n<\/tr>\n |
| 600701<\/td> | HMGA1<\/td> | Type 2 diabetes mellitus, susceptibility to<\/td>\n<\/tr>\n |
| 600698<\/td> | HMGA2<\/td> | Silver-Russell syndrome 5<\/td>\n<\/tr>\n |
| 300193<\/td> | HMGB3<\/td> | Microphthalmia, syndromic 13, X-linked<\/td>\n<\/tr>\n |
| 613898<\/td> | HMGCL<\/td> | HMG-CoA lyase deficiency<\/td>\n<\/tr>\n |
| 142910<\/td> | HMGCR<\/td> | Muscular dystrophy, limb-girdle 28; Statins, response to; Low density lipoprotein cholesterol level QTL 3<\/td>\n<\/tr>\n |
| 600234<\/td> | HMGCS2<\/td> | HMG-CoA synthase-2 deficiency<\/td>\n<\/tr>\n |
| 600936<\/td> | HMMR<\/td> | Breast cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 141250<\/td> | HMOX1<\/td> | Heme oxygenase-1 deficiency; Pulmonary disease, chronic obstructive, susceptibility to<\/td>\n<\/tr>\n |
| 600361<\/td> | HMSN5<\/td> | Hereditary motor and sensory neuropathy V<\/td>\n<\/tr>\n |
| 142992<\/td> | HMX1<\/td> | Oculoauricular syndrome<\/td>\n<\/tr>\n |
| 142410<\/td> | HNF1A<\/td> | Hepatic adenoma, somatic; Diabetes mellitus, insulin-dependent, 20; Diabetes mellitus, noninsulin-dependent, 2; MODY, type III; Diabetes mellitus, insulin-dependent; Renal cell carcinoma<\/td>\n<\/tr>\n |
| 189907<\/td> | HNF1B<\/td> | Type 2 diabetes mellitus; Renal cysts and diabetes syndrome; Renal cell carcinoma<\/td>\n<\/tr>\n |
| 600281<\/td> | HNF4A<\/td> | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young; Diabetes mellitus, noninsulin-dependent; MODY, type I<\/td>\n<\/tr>\n |
| 614227<\/td> | HNFJ3<\/td> | Hyperuricemic nephropathy, familial juvenile, 3<\/td>\n<\/tr>\n |
| 605238<\/td> | HNMT<\/td> | Intellectual developmental disorder 51; Asthma, susceptibility to<\/td>\n<\/tr>\n |
| 608026<\/td> | HNP1<\/td> | Hypertensive nephropathy<\/td>\n<\/tr>\n |
| 164017<\/td> | HNRNPA1<\/td> | Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3; Myopathy, distal, 3; Amyotrophic lateral sclerosis 20<\/td>\n<\/tr>\n |
| 600124<\/td> | HNRNPA2B1<\/td> | Oculopharyngeal muscular dystrophy 2; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2<\/td>\n<\/tr>\n |
| 164020<\/td> | HNRNPC<\/td> | Intellectual developmental disorder 74<\/td>\n<\/tr>\n |
| 607137<\/td> | HNRNPDL<\/td> | Muscular dystrophy, limb-girdle 3<\/td>\n<\/tr>\n |
| 601035<\/td> | HNRNPH1<\/td> | Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects<\/td>\n<\/tr>\n |
| 300610<\/td> | HNRNPH2<\/td> | Intellectual developmental disorder, X-linked syndromic, Bain type, X-linked dominant<\/td>\n<\/tr>\n |
| 600712<\/td> | HNRNPK<\/td> | Au-Kline syndrome<\/td>\n<\/tr>\n |
| 607201<\/td> | HNRNPR<\/td> | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities<\/td>\n<\/tr>\n |
| 602869<\/td> | HNRNPU<\/td> | Developmental and epileptic encephalopathy 54<\/td>\n<\/tr>\n |
| 613597<\/td> | HOGA1<\/td> | Hyperoxaluria, primary, type III<\/td>\n<\/tr>\n |
| 604799<\/td> | HOMER2<\/td> | Deafness 68<\/td>\n<\/tr>\n |
| 142955<\/td> | HOXA1<\/td> | Bosley-Salih-Alorainy syndrome; Athabaskan brainstem dysgenesis syndrome<\/td>\n<\/tr>\n |
| 142958<\/td> | HOXA11<\/td> | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1<\/td>\n<\/tr>\n |
| 142959<\/td> | HOXA13<\/td> | Hand-foot-genital syndrome; Guttmacher syndrome<\/td>\n<\/tr>\n |
| 604685<\/td> | HOXA2<\/td> | Microtia with or without hearing impairment (AD); Microtia, hearing impairment, and cleft palate (AR)<\/td>\n<\/tr>\n |
| 142968<\/td> | HOXB1<\/td> | Facial paresis, hereditary congenital, 3<\/td>\n<\/tr>\n |
| 604607<\/td> | HOXB13<\/td> | Prostate cancer, hereditary, 9<\/td>\n<\/tr>\n |
| 142976<\/td> | HOXC13<\/td> | Ectodermal dysplasia 9, hair\/nail type<\/td>\n<\/tr>\n |
| 142984<\/td> | HOXD10<\/td> | Vertical talus, congenital; Charcot-Marie-Tooth disease, foot deformity of<\/td>\n<\/tr>\n |
| 142989<\/td> | HOXD13<\/td> | Syndactyly, type V; Synpolydactyly 1; Brachydactyly, type E; Brachydactyly, type D; Brachydactyly-syndactyly syndrome<\/td>\n<\/tr>\n |
| 140100<\/td> | HP<\/td> | Anhaptoglobinemia; Hypohaptoglobinemia<\/td>\n<\/tr>\n |
| 611100<\/td> | HPC10<\/td> | Prostate cancer, hereditary, 10<\/td>\n<\/tr>\n |
| 611958<\/td> | HPC14<\/td> | Prostate cancer, hereditary, 14<\/td>\n<\/tr>\n |
| 611959<\/td> | HPC15<\/td> | Prostate cancer, hereditary, 15<\/td>\n<\/tr>\n |
| 608656<\/td> | HPC3<\/td> | Prostate cancer, susceptibility to, 3<\/td>\n<\/tr>\n |
| 608658<\/td> | HPC4<\/td> | Prostate cancer, susceptibility to, 4<\/td>\n<\/tr>\n |
| 609299<\/td> | HPC5<\/td> | Prostate cancer, hereditary, 5<\/td>\n<\/tr>\n |
| 609558<\/td> | HPC6<\/td> | Prostate cancer, susceptibility to<\/td>\n<\/tr>\n |
| 610321<\/td> | HPC7<\/td> | Prostate cancer, hereditary, 7<\/td>\n<\/tr>\n |
| 142622<\/td> | HPCA<\/td> | Dystonia 2, torsion<\/td>\n<\/tr>\n |
| 607592<\/td> | HPCQTL19<\/td> | Prostate cancer aggressiveness QTL<\/td>\n<\/tr>\n |
| 300147<\/td> | HPCX<\/td> | Prostate cancer, hereditary, X-linked 1<\/td>\n<\/tr>\n |
| 300704<\/td> | HPCX2<\/td> | Prostate cancer, hereditary, X-linked 2<\/td>\n<\/tr>\n |
| 609695<\/td> | HPD<\/td> | Hawkinsinuria; Tyrosinemia, type III<\/td>\n<\/tr>\n |
| 618994<\/td> | HPDL<\/td> | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities; Spastic paraplegia 83<\/td>\n<\/tr>\n |
| 236100<\/td> | HPE1<\/td> | Holoprosencephaly 1, Isolated cases<\/td>\n<\/tr>\n |
| 605934<\/td> | HPE6<\/td> | Holoprosencephaly 6<\/td>\n<\/tr>\n |
| 609408<\/td> | HPE8<\/td> | Holoprosencephaly 8<\/td>\n<\/tr>\n |
| 142335<\/td> | HPFH2<\/td> | Fetal hemoglobin QTL5<\/td>\n<\/tr>\n |
| 601688<\/td> | HPGD<\/td> | Digital clubbing, isolated congenital; Hypertrophic osteoarthropathy, primary 1; Cranioosteoarthropathy<\/td>\n<\/tr>\n |
| 267700<\/td> | HPLH1<\/td> | Hemophagocytic lymphohistiocytosis, familial, 1<\/td>\n<\/tr>\n |
| 614187<\/td> | HPPD<\/td> | Hypertelorism, preauricular sinus, punctal pits, and deafness<\/td>\n<\/tr>\n |
| 612089<\/td> | HPRHP<\/td> | Hypophosphatemic rickets and hyperparathyroidism<\/td>\n<\/tr>\n |
| 308000<\/td> | HPRT1<\/td> | Hyperuricemia, HRPT-related, X-linked recessive; Lesch-Nyhan syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 604982<\/td> | HPS1<\/td> | Hermansky-Pudlak syndrome 1<\/td>\n<\/tr>\n |
| 606118<\/td> | HPS3<\/td> | Hermansky-Pudlak syndrome 3<\/td>\n<\/tr>\n |
| 606682<\/td> | HPS4<\/td> | Hermansky-Pudlak syndrome 4<\/td>\n<\/tr>\n |
| 607521<\/td> | HPS5<\/td> | Hermansky-Pudlak syndrome 5<\/td>\n<\/tr>\n |
| 607522<\/td> | HPS6<\/td> | Hermansky-Pudlak syndrome 6<\/td>\n<\/tr>\n |
| 613469<\/td> | HPSE2<\/td> | Urofacial syndrome 1<\/td>\n<\/tr>\n |
| 602302<\/td> | HR<\/td> | Atrichia with papular lesions; Alopecia universalis<\/td>\n<\/tr>\n |
| 190020<\/td> | HRAS<\/td> | Bladder cancer, somatic; Thyroid carcinoma, follicular, somatic; Congenital myopathy with excess of muscle spindles; Nevus sebaceous or woolly hair nevus, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Spitz nevus or nevus spilus, somatic; Costello syndrome<\/td>\n<\/tr>\n |
| 142640<\/td> | HRG<\/td> | Thrombophilia 11 due to HRG deficiency<\/td>\n<\/tr>\n |
| 139450<\/td> | HRM2<\/td> | Hair, curly<\/td>\n<\/tr>\n |
| 618611<\/td> | HROB<\/td> | Ovarian dysgenesis 11<\/td>\n<\/tr>\n |
| 610071<\/td> | HRPT3<\/td> | Hyperparathyroidism 3<\/td>\n<\/tr>\n |
| 619257<\/td> | HRURF<\/td> | Hypotrichosis 4<\/td>\n<\/tr>\n |
| 604844<\/td> | HS2ST1<\/td> | Neurofacioskeletal syndrome with or without renal agenesis<\/td>\n<\/tr>\n |
| 619210<\/td> | HS3ST6<\/td> | Angioedema, hereditary, 8<\/td>\n<\/tr>\n |
| 604846<\/td> | HS6ST1<\/td> | Hypogonadotropic hypogonadism 15 with or without anosmia<\/td>\n<\/tr>\n |
| 300545<\/td> | HS6ST2<\/td> | Paganini-Miozzo syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 608142<\/td> | HSCB<\/td> | Anemia, sideroblastic, 5<\/td>\n<\/tr>\n |
| 600156<\/td> | HSCR5<\/td> | Hirschsprung disease, susceptibility to, 5<\/td>\n<\/tr>\n |
| 606874<\/td> | HSCR6<\/td> | Hirschsprung disease, susceptibility to, 6<\/td>\n<\/tr>\n |
| 606875<\/td> | HSCR7<\/td> | Hirschsprung disease, susceptibility to, 7<\/td>\n<\/tr>\n |
| 608462<\/td> | HSCR8<\/td> | Hirschsprung disease, susceptibility to, 8<\/td>\n<\/tr>\n |
| 611644<\/td> | HSCR9<\/td> | Hirschsprung disease, susceptibility to, 9<\/td>\n<\/tr>\n |
| 600713<\/td> | HSD11B1<\/td> | Cortisone reductase deficiency 2<\/td>\n<\/tr>\n |
| 614232<\/td> | HSD11B2<\/td> | Apparent mineralocorticoid excess<\/td>\n<\/tr>\n |
| 300256<\/td> | HSD17B10<\/td> | HSD10 mitochondrial disease, X-linked dominant<\/td>\n<\/tr>\n |
| 612127<\/td> | HSD17B13<\/td> | Fatty liver disease, protection from<\/td>\n<\/tr>\n |
| 605573<\/td> | HSD17B3<\/td> | Pseudohermaphroditism, male, with gynecomastia<\/td>\n<\/tr>\n |
| 601860<\/td> | HSD17B4<\/td> | D-bifunctional protein deficiency; Perrault syndrome 1<\/td>\n<\/tr>\n |
| 613890<\/td> | HSD3B2<\/td> | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency<\/td>\n<\/tr>\n |
| 607764<\/td> | HSD3B7<\/td> | Bile acid synthesis defect, congenital, 1<\/td>\n<\/tr>\n |
| 604554<\/td> | HSF2BP<\/td> | Premature ovarian failure 19<\/td>\n<\/tr>\n |
| 602438<\/td> | HSF4<\/td> | Cataract 5, multiple types<\/td>\n<\/tr>\n |
| 608088<\/td> | HSN1B<\/td> | Neuropathy, hereditary sensory, type IB<\/td>\n<\/tr>\n |
| 600548<\/td> | HSPA9<\/td> | Even-plus syndrome; Anemia, sideroblastic, 4<\/td>\n<\/tr>\n |
| 602195<\/td> | HSPB1<\/td> | Charcot-Marie-Tooth disease, axonal, type 2F; Neuronopathy, distal hereditary motor 3<\/td>\n<\/tr>\n |
| 604624<\/td> | HSPB3<\/td> | Neuronopathy, distal hereditary motor 4<\/td>\n<\/tr>\n |
| 608014<\/td> | HSPB8<\/td> | Neuronopathy, distal hereditary motor 2; Charcot-Marie-Tooth disease, axonal, type 2L<\/td>\n<\/tr>\n |
| 118190<\/td> | HSPD1<\/td> | Spastic paraplegia 13; Leukodystrophy, hypomyelinating, 4<\/td>\n<\/tr>\n |
| 142461<\/td> | HSPG2<\/td> | Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1<\/td>\n<\/tr>\n |
| 139900<\/td> | HSR<\/td> | Handedness<\/td>\n<\/tr>\n |
| 140300<\/td> | HT<\/td> | Hashimoto thyroiditis<\/td>\n<\/tr>\n |
| 145701<\/td> | HTC1<\/td> | Hypertrichosis universalis congenita, Ambras type<\/td>\n<\/tr>\n |
| 109760<\/td> | HTR1A<\/td> | Periodic fever, menstrual cycle dependent<\/td>\n<\/tr>\n |
| 182135<\/td> | HTR2A<\/td> | Major depressive disorder, response to citalopram therapy in; Obsessive-compulsive disorder, susceptibility to; Schizophrenia, susceptibility to<\/td>\n<\/tr>\n |
| 602194<\/td> | HTRA1<\/td> | Macular degeneration, age-related, neovascular type; Macular degeneration, age-related, 7; CARASIL syndrome; Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy, type 2<\/td>\n<\/tr>\n |
| 606441<\/td> | HTRA2<\/td> | Parkinson disease 13; 3-methylglutaconic aciduria, type VIII<\/td>\n<\/tr>\n |
| 613004<\/td> | HTT<\/td> | Lopes-Maciel-Rodan syndrome; Huntington disease<\/td>\n<\/tr>\n |
| 606325<\/td> | HTX3<\/td> | Heterotaxy, visceral, 3, autosomal<\/td>\n<\/tr>\n |
| 300697<\/td> | HUWE1<\/td> | Intellectual developmental disorder, X-linked syndromic, Turner type, X-linked<\/td>\n<\/tr>\n |
| 613339<\/td> | HWE1<\/td> | Epilepsy, hot water, 1<\/td>\n<\/tr>\n |
| 613340<\/td> | HWE2<\/td> | Epilepsy, hot water, 2<\/td>\n<\/tr>\n |
| 607071<\/td> | HYAL1<\/td> | Mucopolysaccharidosis type IX<\/td>\n<\/tr>\n |
| 610531<\/td> | HYCC1<\/td> | Leukodystrophy, hypomyelinating, 5<\/td>\n<\/tr>\n |
| 602639<\/td> | HYD2<\/td> | Tooth agenesis, selective, 2<\/td>\n<\/tr>\n |
| 610812<\/td> | HYDIN<\/td> | Ciliary dyskinesia, primary, 5<\/td>\n<\/tr>\n |
| 610693<\/td> | HYLS1<\/td> | Hydrolethalus syndrome<\/td>\n<\/tr>\n |
| 601746<\/td> | HYOU1<\/td> | Immunodeficiency 59 and hypoglycemia<\/td>\n<\/tr>\n |
| 614238<\/td> | HYP10<\/td> | Hypotrichosis 10<\/td>\n<\/tr>\n |
| 604499<\/td> | HYPLIP2<\/td> | Hyperlipidemia, combined, 2<\/td>\n<\/tr>\n |
| 614237<\/td> | HYPT9<\/td> | Hypotrichosis 9<\/td>\n<\/tr>\n |
| 146450<\/td> | HYSP3<\/td> | Hypospadias 3, autosomal, Multifactorial<\/td>\n<\/tr>\n |
| 300856<\/td> | HYSP4<\/td> | Hypospadias 4, X-linked, susceptibility to<\/td>\n<\/tr>\n |
| 603918<\/td> | HYT1<\/td> | Hypertension, essential, susceptibility to, 1, Multifactorial<\/td>\n<\/tr>\n |
| 604329<\/td> | HYT2<\/td> | Hypertension, essential, susceptibility to, 2, Multifactorial<\/td>\n<\/tr>\n |
| 607329<\/td> | HYT3<\/td> | Hypertension, essential, susceptibility to, 3, Multifactorial<\/td>\n<\/tr>\n |
| 608742<\/td> | HYT4<\/td> | Hypertension, essential, susceptibility to, 4, Multifactorial<\/td>\n<\/tr>\n |
| 610261<\/td> | HYT5<\/td> | Hypertension, essential, susceptibility to, 5, Multifactorial<\/td>\n<\/tr>\n |
| 610262<\/td> | HYT6<\/td> | Hypertension, essential, susceptibility to, 6, Multifactorial<\/td>\n<\/tr>\n |
| 610948<\/td> | HYT7<\/td> | Hypertension, essential, susceptibility to, 7<\/td>\n<\/tr>\n |
| 611014<\/td> | HYT8<\/td> | Hypertension, essential, susceptibility to, 8<\/td>\n<\/tr>\n |
| 600709<\/td> | IARS1<\/td> | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy<\/td>\n<\/tr>\n |
| 612801<\/td> | IARS2<\/td> | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia<\/td>\n<\/tr>\n |
| 615316<\/td> | IBA57<\/td> | Multiple mitochondrial dysfunctions syndrome 3; Spastic paraplegia 74<\/td>\n<\/tr>\n |
| 191390<\/td> | IBD11<\/td> | Inflammatory bowel disease 11, Multifactorial<\/td>\n<\/tr>\n |
| 612241<\/td> | IBD12<\/td> | Inflammatory bowel disease 12<\/td>\n<\/tr>\n |
| 612255<\/td> | IBD15<\/td> | Inflammatory bowel disease 15<\/td>\n<\/tr>\n |
| 612259<\/td> | IBD16<\/td> | Inflammatory bowel disease 16<\/td>\n<\/tr>\n |
| 612262<\/td> | IBD18<\/td> | Inflammatory bowel disease 18<\/td>\n<\/tr>\n |
| 601458<\/td> | IBD2<\/td> | Inflammatory bowel disease 2<\/td>\n<\/tr>\n |
| 612288<\/td> | IBD20<\/td> | Inflammatory bowel disease 20<\/td>\n<\/tr>\n |
| 612354<\/td> | IBD21<\/td> | Inflammatory bowel disease 21<\/td>\n<\/tr>\n |
| 612380<\/td> | IBD22<\/td> | Inflammatory bowel disease 22<\/td>\n<\/tr>\n |
| 612381<\/td> | IBD23<\/td> | Inflammatory bowel disease 23<\/td>\n<\/tr>\n |
| 612566<\/td> | IBD24<\/td> | Inflammatory bowel disease 24<\/td>\n<\/tr>\n |
| 612639<\/td> | IBD26<\/td> | Inflammatory bowel disease 26<\/td>\n<\/tr>\n |
| 612796<\/td> | IBD27<\/td> | Inflammatory bowel disease 27<\/td>\n<\/tr>\n |
| 604519<\/td> | IBD3<\/td> | Inflammatory bowel disease 3<\/td>\n<\/tr>\n |
| 606675<\/td> | IBD4<\/td> | Inflammatory bowel disease 4<\/td>\n<\/tr>\n |
| 606348<\/td> | IBD5<\/td> | Inflammatory bowel disease 5<\/td>\n<\/tr>\n |
| 606674<\/td> | IBD6<\/td> | Inflammatory bowel disease 6<\/td>\n<\/tr>\n |
| 605225<\/td> | IBD7<\/td> | Inflammatory bowel disease 7<\/td>\n<\/tr>\n |
| 606668<\/td> | IBD8<\/td> | Inflammatory bowel disease 8<\/td>\n<\/tr>\n |
| 608448<\/td> | IBD9<\/td> | Inflammatory bowel disease 9<\/td>\n<\/tr>\n |
| 147840<\/td> | ICAM1<\/td> | Malaria, cerebral, susceptibility to<\/td>\n<\/tr>\n |
| 614088<\/td> | ICAM4<\/td> | Blood group, Landsteiner-Wiener<\/td>\n<\/tr>\n |
| 604558<\/td> | ICOS<\/td> | Immunodeficiency, common variable, 1<\/td>\n<\/tr>\n |
| 605717<\/td> | ICOSLG<\/td> | Immunodeficiency 119<\/td>\n<\/tr>\n |
| 601208<\/td> | IDDM11<\/td> | Diabetes mellitus, insulin-dependent, 11<\/td>\n<\/tr>\n |
| 601318<\/td> | IDDM13<\/td> | Diabetes mellitus, insulin-dependent, 13<\/td>\n<\/tr>\n |
| 601666<\/td> | IDDM15<\/td> | Diabetes mellitus, insulin-dependent, 15<\/td>\n<\/tr>\n |
| 603266<\/td> | IDDM17<\/td> | Diabetes mellitus, insulin-dependent, 17<\/td>\n<\/tr>\n |
| 605598<\/td> | IDDM18<\/td> | Diabetes mellitus, insulin-dependent, 18<\/td>\n<\/tr>\n |
| 612622<\/td> | IDDM23<\/td> | Diabetes mellitus, insulin-dependent, 23<\/td>\n<\/tr>\n |
| 613006<\/td> | IDDM24<\/td> | Diabetes mellitus, insulin-dependent, 24<\/td>\n<\/tr>\n |
| 600318<\/td> | IDDM3<\/td> | Diabetes mellitus, insulin-dependent, 3<\/td>\n<\/tr>\n |
| 600319<\/td> | IDDM4<\/td> | Diabetes mellitus, insulin-dependent, 4<\/td>\n<\/tr>\n |
| 601941<\/td> | IDDM6<\/td> | Diabetes mellitus, insulin-dependent, 6<\/td>\n<\/tr>\n |
| 600321<\/td> | IDDM7<\/td> | Diabetes mellitus, insulin-dependent, 7<\/td>\n<\/tr>\n |
| 600883<\/td> | IDDM8<\/td> | Diabetes mellitus, insulin-dependent, 8<\/td>\n<\/tr>\n |
| 300136<\/td> | IDDMX<\/td> | Diabetes mellitus, insulin-dependent, X-linked<\/td>\n<\/tr>\n |
| 147700<\/td> | IDH1<\/td> | Glioma, susceptibility to, somatic<\/td>\n<\/tr>\n |
| 147650<\/td> | IDH2<\/td> | D-2-hydroxyglutaric aciduria 2<\/td>\n<\/tr>\n |
| 601149<\/td> | IDH3A<\/td> | Retinitis pigmentosa 90<\/td>\n<\/tr>\n |
| 604526<\/td> | IDH3B<\/td> | Retinitis pigmentosa 46<\/td>\n<\/tr>\n |
| 300823<\/td> | IDS<\/td> | Mucopolysaccharidosis II, X-linked recessive<\/td>\n<\/tr>\n |
| 252800<\/td> | IDUA<\/td> | Mucopolysaccharidosis Is; Mucopolysaccharidosis Ih\/s; Mucopolysaccharidosis Ih<\/td>\n<\/tr>\n |
| 609382<\/td> | IER3IP1<\/td> | Microcephaly, epilepsy, and diabetes syndrome<\/td>\n<\/tr>\n |
| 606951<\/td> | IFIH1<\/td> | Immunodeficiency 95; Aicardi-Goutieres syndrome 7; Singleton-Merten syndrome 1<\/td>\n<\/tr>\n |
| 605579<\/td> | IFITM3<\/td> | Influenza, severe, susceptibility to<\/td>\n<\/tr>\n |
| 614757<\/td> | IFITM5<\/td> | Osteogenesis imperfecta, type V<\/td>\n<\/tr>\n |
| 147660<\/td> | IFNA1<\/td> | Interferon, alpha, deficiency<\/td>\n<\/tr>\n |
| 107450<\/td> | IFNAR1<\/td> | Immunodeficiency 106, susceptibility to viral infections<\/td>\n<\/tr>\n |
| 602376<\/td> | IFNAR2<\/td> | Hepatitis B virus, susceptibility to; Immunodeficiency 45<\/td>\n<\/tr>\n |
| 147570<\/td> | IFNG<\/td> | Hepatitis C virus, response to therapy of; TSC2 angiomyolipomas, renal, modifier of; Aplastic anemia; Immunodeficiency 69, mycobacteriosis; Tuberculosis, protection against; AIDS, rapid progression to<\/td>\n<\/tr>\n |
| 107470<\/td> | IFNGR1<\/td> | H. pylori infection, susceptibility to; Immunodeficiency 27A, mycobacteriosis, AR; Immunodeficiency 27B, mycobacteriosis, AD; Tuberculosis infection, protection against; Tuberculosis, susceptibility to; Hepatitis B virus infection, susceptibility to<\/td>\n<\/tr>\n |
| 147569<\/td> | IFNGR2<\/td> | Immunodeficiency 28, mycobacteriosis<\/td>\n<\/tr>\n |
| 607402<\/td> | IFNL3<\/td> | Hepatitis C virus infection, response to therapy of<\/td>\n<\/tr>\n |
| 606045<\/td> | IFT122<\/td> | Cranioectodermal dysplasia 1<\/td>\n<\/tr>\n |
| 614620<\/td> | IFT140<\/td> | Short-rib thoracic dysplasia 9 with or without polydactyly; Retinitis pigmentosa 80<\/td>\n<\/tr>\n |
| 607386<\/td> | IFT172<\/td> | Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polydactyly<\/td>\n<\/tr>\n |
| 615870<\/td> | IFT27<\/td> | Bardet-Biedl syndrome 19<\/td>\n<\/tr>\n |
| 614068<\/td> | IFT43<\/td> | Cranioectodermal dysplasia 3; Retinitis pigmentosa 81; Short-rib thoracic dysplasia 18 with polydactyly<\/td>\n<\/tr>\n |
| 617094<\/td> | IFT52<\/td> | Short-rib thoracic dysplasia 16 with or without polydactyly<\/td>\n<\/tr>\n |
| 617453<\/td> | IFT56<\/td> | Biliary, renal, neurologic, and skeletal syndrome<\/td>\n<\/tr>\n |
| 606621<\/td> | IFT57<\/td> | Orofaciodigital syndrome XVIII<\/td>\n<\/tr>\n |
| 608040<\/td> | IFT74<\/td> | Bardet-Biedl syndrome 22; Spermatogenic failure 58; Joubert syndrome 40<\/td>\n<\/tr>\n |
| 611177<\/td> | IFT80<\/td> | Short-rib thoracic dysplasia 2 with or without polydactyly<\/td>\n<\/tr>\n |
| 605489<\/td> | IFT81<\/td> | Short-rib thoracic dysplasia 19 with or without polydactyly<\/td>\n<\/tr>\n |
| 137100<\/td> | IGAD1<\/td> | Immunoglobulin A deficiency, Isolated cases<\/td>\n<\/tr>\n |
| 161950<\/td> | IGAN1<\/td> | IgA nephropathy, susceptibility to, 1, Autosomal dominant<\/td>\n<\/tr>\n |
| 613944<\/td> | IGAN2<\/td> | IgA nephropathy, susceptibility to, 2, Autosomal dominant<\/td>\n<\/tr>\n |
| 300139<\/td> | IGBP1<\/td> | Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive<\/td>\n<\/tr>\n |
| 147061<\/td> | IGES<\/td> | Allergy and asthma susceptibility<\/td>\n<\/tr>\n |
| 147440<\/td> | IGF1<\/td> | Insulin-like growth factor I deficiency<\/td>\n<\/tr>\n |
| 147370<\/td> | IGF1R<\/td> | Insulin-like growth factor I, resistance to<\/td>\n<\/tr>\n |
| 147470<\/td> | IGF2<\/td> | Silver-Russell syndrome 3<\/td>\n<\/tr>\n |
| 608289<\/td> | IGF2BP2<\/td> | Diabetes mellitus, noninsulin-dependent, susceptibility to<\/td>\n<\/tr>\n |
| 147280<\/td> | IGF2R<\/td> | Hepatocellular carcinoma, somatic<\/td>\n<\/tr>\n |
| 601489<\/td> | IGFALS<\/td> | Acid-labile subunit, deficiency of<\/td>\n<\/tr>\n |
| 602867<\/td> | IGFBP7<\/td> | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis<\/td>\n<\/tr>\n |
| 147110<\/td> | IGHG2<\/td> | IgG2 deficiency, selective<\/td>\n<\/tr>\n |
| 147020<\/td> | IGHM<\/td> | Agammaglobulinemia 1<\/td>\n<\/tr>\n |
| 600502<\/td> | IGHMBP2<\/td> | Charcot-Marie-Tooth disease, axonal, type 2S; Neuronopathy, distal hereditary motor 1<\/td>\n<\/tr>\n |
| 147200<\/td> | IGKC<\/td> | Kappa light chain deficiency<\/td>\n<\/tr>\n |
| 146770<\/td> | IGLL1<\/td> | Agammaglobulinemia 2<\/td>\n<\/tr>\n |
| 300137<\/td> | IGSF1<\/td> | Hypothyroidism, central, and testicular enlargement, X-linked recessive<\/td>\n<\/tr>\n |
| 603491<\/td> | IGSF3<\/td> | Lacrimal duct defect<\/td>\n<\/tr>\n |
| 235000<\/td> | IH<\/td> | Hemihypertrophy<\/td>\n<\/tr>\n |
| 600726<\/td> | IHH<\/td> | Acrocapitofemoral dysplasia; Brachydactyly, type A1<\/td>\n<\/tr>\n |
| 610260<\/td> | IHPS2<\/td> | Pyloric stenosis, infantile hypertrophic, 2<\/td>\n<\/tr>\n |
| 612017<\/td> | IHPS3<\/td> | Pyloric stenosis, infantile hypertrophic, 3<\/td>\n<\/tr>\n |
| 300711<\/td> | IHPS4<\/td> | Pyloric stenosis, infantile hypertrophic, 4<\/td>\n<\/tr>\n |
| 612525<\/td> | IHPS5<\/td> | Pyloric stenosis, infantile hypertrophic, 5<\/td>\n<\/tr>\n |
| 603258<\/td> | IKBKB<\/td> | Immunodeficiency 15B; Immunodeficiency 15A<\/td>\n<\/tr>\n |
| 300248<\/td> | IKBKG<\/td> | Incontinentia pigmenti, X-linked dominant; Ectodermal dysplasia and immunodeficiency 1, X-linked recessive; Immunodeficiency 33, X-linked recessive; Autoinflammatory disease, systemic, X-linked, X-linked<\/td>\n<\/tr>\n |
| 603023<\/td> | IKZF1<\/td> | Immunodeficiency, common variable, 13<\/td>\n<\/tr>\n |
| 606221<\/td> | IKZF3<\/td> | Immunodeficiency 84<\/td>\n<\/tr>\n |
| 606238<\/td> | IKZF5<\/td> | Thrombocytopenia, 7<\/td>\n<\/tr>\n |
| 124092<\/td> | IL10<\/td> | Rheumatoid arthritis, progression of; Graft-versus-host disease, protection against; HIV-1, susceptibility to<\/td>\n<\/tr>\n |
| 146933<\/td> | IL10RA<\/td> | Inflammatory bowel disease 28, early onset<\/td>\n<\/tr>\n |
| 123889<\/td> | IL10RB<\/td> | Hepatitis B virus, susceptibility to; Inflammatory bowel disease 25, early onset<\/td>\n<\/tr>\n |
| 600939<\/td> | IL11RA<\/td> | Craniosynostosis and dental anomalies<\/td>\n<\/tr>\n |
| 161561<\/td> | IL12B<\/td> | Immunodeficiency 29, mycobacteriosis<\/td>\n<\/tr>\n |
| 601604<\/td> | IL12RB1<\/td> | Immunodeficiency 30<\/td>\n<\/tr>\n |
| 147683<\/td> | IL13<\/td> | Asthma, susceptibility to; Allergic rhinitis, susceptibility to<\/td>\n<\/tr>\n |
| 606496<\/td> | IL17F<\/td> | Candidiasis, familial, 6<\/td>\n<\/tr>\n |
| 605461<\/td> | IL17RA<\/td> | Immunodeficiency 51<\/td>\n<\/tr>\n |
| 610925<\/td> | IL17RC<\/td> | Candidiasis, familial, 9<\/td>\n<\/tr>\n |
| 606807<\/td> | IL17RD<\/td> | Hypogonadotropic hypogonadism 18 with or without anosmia, Digenic dominant<\/td>\n<\/tr>\n |
| 604113<\/td> | IL18BP<\/td> | Hepatitis, fulminant viral, susceptibility to<\/td>\n<\/tr>\n |
| 147720<\/td> | IL1B<\/td> | Gastric cancer risk after H. pylori infection<\/td>\n<\/tr>\n |
| 147810<\/td> | IL1R1<\/td> | Chronic recurrent multifocal osteomyelitis 3<\/td>\n<\/tr>\n |
| 300206<\/td> | IL1RAPL1<\/td> | Intellectual developmental disorder, X-linked 21, X-linked recessive<\/td>\n<\/tr>\n |
| 147679<\/td> | IL1RN<\/td> | Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis; Gastric cancer risk after H. pylori infection; Microvascular complications of diabetes 4; Interleukin 1 receptor antagonist deficiency<\/td>\n<\/tr>\n |
| 605384<\/td> | IL21<\/td> | Immunodeficiency, common variable, 11<\/td>\n<\/tr>\n |
| 605383<\/td> | IL21R<\/td> | Immunodeficiency 56<\/td>\n<\/tr>\n |
| 607562<\/td> | IL23R<\/td> | Inflammatory bowel disease 17, protection against; Psoriasis, protection against<\/td>\n<\/tr>\n |
| 147730<\/td> | IL2RA<\/td> | Immunodeficiency 41 with lymphoproliferation and autoimmunity; Diabetes, mellitus, insulin-dependent, susceptibility to, 10<\/td>\n<\/tr>\n |
| 146710<\/td> | IL2RB<\/td> | Immunodeficiency 63 with lymphoproliferation and autoimmunity<\/td>\n<\/tr>\n |
| 308380<\/td> | IL2RG<\/td> | Combined immunodeficiency, X-linked, moderate, X-linked recessive; Severe combined immunodeficiency, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 609510<\/td> | IL31RA<\/td> | Amyloidosis, primary localized cutaneous, 2<\/td>\n<\/tr>\n |
| 605507<\/td> | IL36RN<\/td> | Psoriasis 14, pustular<\/td>\n<\/tr>\n |
| 605510<\/td> | IL37<\/td> | Inflammatory bowel disease (infantile ulcerative colitis) 31<\/td>\n<\/tr>\n |
| 147620<\/td> | IL6<\/td> | Type 2 diabetes mellitus; Rheumatoid arthritis, systemic juvenile; Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, Somatic mutation; Type 1 diabetes mellitus; Kaposi sarcoma in HIV+, susceptibility to; Crohn disease-associated growth failure, Multifactorial<\/td>\n<\/tr>\n |
| 147880<\/td> | IL6R<\/td> | Interleukin 6, serum level of, QTL; Hyper-IgE syndrome 5, with recurrent infections; Interleukin-6 receptor, soluble, serum level of, QTL<\/td>\n<\/tr>\n |
| 600694<\/td> | IL6ST<\/td> | Hyper-IgE syndrome 4A, with recurrent infections; Stuve-Wiedemann syndrome 2; Hyper-IgE syndrome 4B, with recurrent infections; Immunodeficiency 94 with autoinflammation and dysmorphic facies<\/td>\n<\/tr>\n |
| 146660<\/td> | IL7<\/td> | Epidermodysplasia verruciformis, susceptibility to, 5<\/td>\n<\/tr>\n |
| 146661<\/td> | IL7R<\/td> | Immunodeficiency 104, severe combined<\/td>\n<\/tr>\n |
| 609739<\/td> | ILDR1<\/td> | Deafness 42<\/td>\n<\/tr>\n |
| 602064<\/td> | IMPA1<\/td> | Intellectual developmental disorder 59<\/td>\n<\/tr>\n |
| 146690<\/td> | IMPDH1<\/td> | Retinitis pigmentosa 10; Leber congenital amaurosis 11<\/td>\n<\/tr>\n |
| 146691<\/td> | IMPDH2<\/td> | IMPDH2 enzyme activity, variation in<\/td>\n<\/tr>\n |
| 602870<\/td> | IMPG1<\/td> | Macular dystrophy, vitelliform, 4; Retinitis pigmentosa 91<\/td>\n<\/tr>\n |
| 607056<\/td> | IMPG2<\/td> | Retinitis pigmentosa 56; Macular dystrophy, vitelliform, 5<\/td>\n<\/tr>\n |
| 618051<\/td> | INAVA<\/td> | Inflammatory bowel disease 29<\/td>\n<\/tr>\n |
| 300076<\/td> | INDX<\/td> | Woods-Black-Norbury syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 610982<\/td> | INF2<\/td> | Glomerulosclerosis, focal segmental, 5; Charcot-Marie-Tooth disease, dominant intermediate E<\/td>\n<\/tr>\n |
| 601566<\/td> | ING1<\/td> | Squamous cell carcinoma, head and neck, somatic<\/td>\n<\/tr>\n |
| 613037<\/td> | INPP5E<\/td> | Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome; Joubert syndrome 1<\/td>\n<\/tr>\n |
| 607875<\/td> | INPP5K<\/td> | Muscular dystrophy, congenital, with cataracts and intellectual disability<\/td>\n<\/tr>\n |
| 600829<\/td> | INPPL1<\/td> | Opsismodysplasia<\/td>\n<\/tr>\n |
| 176730<\/td> | INS<\/td> | Diabetes mellitus, insulin-dependent, 2; Maturity-onset diabetes of the young, type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4<\/td>\n<\/tr>\n |
| 146738<\/td> | INSL3<\/td> | Cryptorchidism<\/td>\n<\/tr>\n |
| 147670<\/td> | INSR<\/td> | Rabson-Mendenhall syndrome; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Donohue syndrome; Hyperinsulinemic hypoglycemia, familial, 5<\/td>\n<\/tr>\n |
| 603783<\/td> | INTLQ1<\/td> | Intelligence QTL1<\/td>\n<\/tr>\n |
| 610295<\/td> | INTLQ2<\/td> | Intelligence QTL3<\/td>\n<\/tr>\n |
| 610294<\/td> | INTLQ3<\/td> | Intelligence QTL3<\/td>\n<\/tr>\n |
| 611345<\/td> | INTS1<\/td> | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies<\/td>\n<\/tr>\n |
| 611354<\/td> | INTS11<\/td> | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities<\/td>\n<\/tr>\n |
| 611351<\/td> | INTS8<\/td> | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity<\/td>\n<\/tr>\n |
| 610621<\/td> | INTU<\/td> | Orofaciodigital syndrome XVII; Short-rib thoracic dysplasia 20 with polydactyly<\/td>\n<\/tr>\n |
| 243305<\/td> | INVS<\/td> | Nephronophthisis 2, infantile<\/td>\n<\/tr>\n |
| 605600<\/td> | IPO8<\/td> | VISS syndrome<\/td>\n<\/tr>\n |
| 609237<\/td> | IQCB1<\/td> | Senior-Loken syndrome 5<\/td>\n<\/tr>\n |
| 617631<\/td> | IQCE<\/td> | Polydactyly, postaxial, type A7<\/td>\n<\/tr>\n |
| 620160<\/td> | IQCN<\/td> | Spermatogenic failure 78<\/td>\n<\/tr>\n |
| 610166<\/td> | IQSEC1<\/td> | Intellectual developmental disorder with short stature and behavioral abnormalities<\/td>\n<\/tr>\n |
| 300522<\/td> | IQSEC2<\/td> | Intellectual developmental disorder, X-linked 1, X-linked dominant<\/td>\n<\/tr>\n |
| 604459<\/td> | IRAK3<\/td> | Asthma susceptibility 5<\/td>\n<\/tr>\n |
| 606883<\/td> | IRAK4<\/td> | Immunodeficiency 67<\/td>\n<\/tr>\n |
| 147582<\/td> | IREB2<\/td> | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia<\/td>\n<\/tr>\n |
| 147575<\/td> | IRF1<\/td> | Nonsmall cell lung cancer, somatic; Gastric cancer, somatic; Immunodeficiency 117, mycobacteriosis<\/td>\n<\/tr>\n |
| 615332<\/td> | IRF2BP2<\/td> | Immunodeficiency, common variable, 14<\/td>\n<\/tr>\n |
| 611720<\/td> | IRF2BPL<\/td> | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures<\/td>\n<\/tr>\n |
| 603734<\/td> | IRF3<\/td> | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7<\/td>\n<\/tr>\n |
| 601900<\/td> | IRF4<\/td> | Skin\/hair\/eye pigmentation, variation in, 8<\/td>\n<\/tr>\n |
| 607218<\/td> | IRF5<\/td> | Inflammatory bowel disease 14; Systemic lupus erythematosus, susceptibility to, 10<\/td>\n<\/tr>\n |
| 607199<\/td> | IRF6<\/td> | Orofacial cleft 6; Popliteal pterygium syndrome 1; van der Woude syndrome 1<\/td>\n<\/tr>\n |
| 605047<\/td> | IRF7<\/td> | Immunodeficiency 39<\/td>\n<\/tr>\n |
| 601565<\/td> | IRF8<\/td> | Immunodeficiency 32A, mycobacteriosis; Immunodeficiency 32B, monocyte and dendritic cell deficiency<\/td>\n<\/tr>\n |
| 147574<\/td> | IRF9<\/td> | Immunodeficiency 65, susceptibility to viral infections<\/td>\n<\/tr>\n |
| 608212<\/td> | IRGM<\/td> | Mycobacterium tuberculosis, protection against; Inflammatory bowel disease (Crohn disease) 19<\/td>\n<\/tr>\n |
| 147545<\/td> | IRS1<\/td> | Type 2 diabetes mellitus, susceptibility to<\/td>\n<\/tr>\n |
| 600797<\/td> | IRS2<\/td> | Diabetes mellitus, noninsulin-dependent<\/td>\n<\/tr>\n |
| 300904<\/td> | IRS4<\/td> | Hypothyroidism, congenital, nongoitrous, 9, X-linked recessive<\/td>\n<\/tr>\n |
| 606195<\/td> | IRX5<\/td> | Hamamy syndrome<\/td>\n<\/tr>\n |
| 181800<\/td> | IS1<\/td> | Scoliosis, idiopathic 1<\/td>\n<\/tr>\n |
| 607354<\/td> | IS2<\/td> | Scoliosis, idiopathic 2<\/td>\n<\/tr>\n |
| 612238<\/td> | IS4<\/td> | Scoliosis, idiopathic, susceptibility to, 4<\/td>\n<\/tr>\n |
| 612239<\/td> | IS5<\/td> | Scoliosis, idiopathic, susceptibility to, 5<\/td>\n<\/tr>\n |
| 611006<\/td> | ISCA1<\/td> | Multiple mitochondrial dysfunctions syndrome 5<\/td>\n<\/tr>\n |
| 615317<\/td> | ISCA2<\/td> | Multiple mitochondrial dysfunctions syndrome 4<\/td>\n<\/tr>\n |
| 611911<\/td> | ISCU<\/td> | Myopathy with lactic acidosis, hereditary<\/td>\n<\/tr>\n |
| 147571<\/td> | ISG15<\/td> | Immunodeficiency 38<\/td>\n<\/tr>\n |
| 606409<\/td> | ITCH<\/td> | Autoimmune disease, multisystem, with facial dysmorphism<\/td>\n<\/tr>\n |
| 607759<\/td> | ITGA2B<\/td> | Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia 1; Bleeding disorder, platelet-type, 16<\/td>\n<\/tr>\n |
| 605025<\/td> | ITGA3<\/td> | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome<\/td>\n<\/tr>\n |
| 147556<\/td> | ITGA6<\/td> | Epidermolysis bullosa, junctional 6, with pyloric atresia<\/td>\n<\/tr>\n |
| 600536<\/td> | ITGA7<\/td> | Muscular dystrophy, congenital, due to ITGA7 deficiency<\/td>\n<\/tr>\n |
| 604063<\/td> | ITGA8<\/td> | Renal hypodysplasia\/aplasia 1<\/td>\n<\/tr>\n |
| 600065<\/td> | ITGB2<\/td> | Leukocyte adhesion deficiency<\/td>\n<\/tr>\n |
| 173470<\/td> | ITGB3<\/td> | Bleeding disorder, platelet-type, 24; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2<\/td>\n<\/tr>\n |
| 147557<\/td> | ITGB4<\/td> | Epidermolysis bullosa, junctional 5B, with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate<\/td>\n<\/tr>\n |
| 147558<\/td> | ITGB6<\/td> | Amelogenesis imperfecta, type IH<\/td>\n<\/tr>\n |
| 186973<\/td> | ITK<\/td> | Lymphoproliferative syndrome 1<\/td>\n<\/tr>\n |
| 603904<\/td> | ITM2B<\/td> | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities; Dementia, familial British; Dementia, familial Danish<\/td>\n<\/tr>\n |
| 147520<\/td> | ITPA<\/td> | Inosine triphosphatase deficiency; Developmental and epileptic encephalopathy 35<\/td>\n<\/tr>\n |
| 147265<\/td> | ITPR1<\/td> | Gillespie syndrome; Spinocerebellar ataxia 29, congenital nonprogressive; Spinocerebellar ataxia 15<\/td>\n<\/tr>\n |
| 600144<\/td> | ITPR2<\/td> | Anhidrosis, isolated, with normal sweat glands<\/td>\n<\/tr>\n |
| 147267<\/td> | ITPR3<\/td> | Charcot-Marie-Tooth disease, demyelinating, type 1J; Diabetes, type 1, susceptibility to<\/td>\n<\/tr>\n |
| 607036<\/td> | IVD<\/td> | Isovaleric acidemia<\/td>\n<\/tr>\n |
| 609209<\/td> | IVNS1ABP<\/td> | Immunodeficiency 70<\/td>\n<\/tr>\n |
| 612025<\/td> | IYD<\/td> | Thyroid dyshormonogenesis 4<\/td>\n<\/tr>\n |
| 601920<\/td> | JAG1<\/td> | Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, type 2HH; Alagille syndrome 1; Tetralogy of Fallot<\/td>\n<\/tr>\n |
| 602570<\/td> | JAG2<\/td> | Muscular dystrophy, limb-girdle 27<\/td>\n<\/tr>\n |
| 616012<\/td> | JAGN1<\/td> | Neutropenia, severe congenital, 6<\/td>\n<\/tr>\n |
| 147795<\/td> | JAK1<\/td> | Autoinflammation, immune dysregulation, and eosinophilia<\/td>\n<\/tr>\n |
| 147796<\/td> | JAK2<\/td> | Budd-Chiari syndrome, somatic; Myelofibrosis, somatic; Erythrocytosis, somatic; Leukemia, acute myeloid, somatic; Thrombocythemia 3, Somatic mutation; Polycythemia vera, somatic<\/td>\n<\/tr>\n |
| 600173<\/td> | JAK3<\/td> | Severe combined immunodeficiency, T-negative\/B-positive type<\/td>\n<\/tr>\n |
| 606870<\/td> | JAM2<\/td> | Basal ganglia calcification, idiopathic, 8<\/td>\n<\/tr>\n |
| 606871<\/td> | JAM3<\/td> | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts<\/td>\n<\/tr>\n |
| 601594<\/td> | JARID2<\/td> | Developmental delay with variable intellectual disability and dysmorphic facies<\/td>\n<\/tr>\n |
| 605266<\/td> | JPH1<\/td> | Congenital myopathy 25; Charcot-Marie-Tooth disease, axonal, type 2K, modifier of<\/td>\n<\/tr>\n |
| 605267<\/td> | JPH2<\/td> | Cardiomyopathy, dilated, 2E; Cardiomyopathy, hypertrophic, 17<\/td>\n<\/tr>\n |
| 605268<\/td> | JPH3<\/td> | Huntington disease-like 2<\/td>\n<\/tr>\n |
| 173325<\/td> | JUP<\/td> | Naxos disease; Arrhythmogenic right ventricular dysplasia 12<\/td>\n<\/tr>\n |
| 607704<\/td> | KANK1<\/td> | Cerebral palsy, spastic quadriplegic, 2<\/td>\n<\/tr>\n |
| 614610<\/td> | KANK2<\/td> | Nephrotic syndrome, type 16; Palmoplantar keratoderma and woolly hair<\/td>\n<\/tr>\n |
| 612452<\/td> | KANSL1<\/td> | Koolen-De Vries syndrome<\/td>\n<\/tr>\n |
| 601421<\/td> | KARS1<\/td> | Deafness 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Charcot-Marie-Tooth disease, recessive intermediate, B; Deafness, congenital, and adult-onset progressive leukoencephalopathy<\/td>\n<\/tr>\n |
| 618125<\/td> | KASH5<\/td> | Spermatogenic failure 88; Premature ovarian failure 22<\/td>\n<\/tr>\n |
| 601409<\/td> | KAT5<\/td> | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities<\/td>\n<\/tr>\n |
| 601408<\/td> | KAT6A<\/td> | Arboleda-Tham syndrome<\/td>\n<\/tr>\n |
| 605880<\/td> | KAT6B<\/td> | SBBYSS syndrome; Genitopatellar syndrome<\/td>\n<\/tr>\n |
| 609912<\/td> | KAT8<\/td> | Li-Ghorgani-Weisz-Hubshman syndrome<\/td>\n<\/tr>\n |
| 602703<\/td> | KATNB1<\/td> | Lissencephaly 6, with microcephaly<\/td>\n<\/tr>\n |
| 616650<\/td> | KATNIP<\/td> | Joubert syndrome 26<\/td>\n<\/tr>\n |
| 608207<\/td> | KAZA1<\/td> | Kala-azar, susceptibility to, 1<\/td>\n<\/tr>\n |
| 611381<\/td> | KAZA2<\/td> | Kala-azar, susceptibility to, 2<\/td>\n<\/tr>\n |
| 611382<\/td> | KAZA3<\/td> | Kala-azar, susceptibility to, 3<\/td>\n<\/tr>\n |
| 613727<\/td> | KBTBD13<\/td> | Nemaline myopathy 6<\/td>\n<\/tr>\n |
| 176260<\/td> | KCNA1<\/td> | Episodic ataxia\/myokymia syndrome<\/td>\n<\/tr>\n |
| 176262<\/td> | KCNA2<\/td> | Developmental and epileptic encephalopathy 32<\/td>\n<\/tr>\n |
| 176266<\/td> | KCNA4<\/td> | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum<\/td>\n<\/tr>\n |
| 176267<\/td> | KCNA5<\/td> | Atrial fibrillation, familial, 7<\/td>\n<\/tr>\n |
| 600397<\/td> | KCNB1<\/td> | Developmental and epileptic encephalopathy 26<\/td>\n<\/tr>\n |
| 176258<\/td> | KCNC1<\/td> | Epilepsy, progressive myoclonic 7<\/td>\n<\/tr>\n |
| 176256<\/td> | KCNC2<\/td> | Developmental and epileptic encephalopathy 103<\/td>\n<\/tr>\n |
| 176264<\/td> | KCNC3<\/td> | Spinocerebellar ataxia 13<\/td>\n<\/tr>\n |
| 605411<\/td> | KCND3<\/td> | Spinocerebellar ataxia 19; Brugada syndrome 9<\/td>\n<\/tr>\n |
| 176261<\/td> | KCNE1<\/td> | Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5<\/td>\n<\/tr>\n |
| 603796<\/td> | KCNE2<\/td> | Long QT syndrome 6; Atrial fibrillation, familial, 4<\/td>\n<\/tr>\n |
| 604433<\/td> | KCNE3<\/td> | Brugada syndrome 6<\/td>\n<\/tr>\n |
| 603305<\/td> | KCNH1<\/td> | Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome<\/td>\n<\/tr>\n |
| 152427<\/td> | KCNH2<\/td> | Short QT syndrome 1; Long QT syndrome 2<\/td>\n<\/tr>\n |
| 605716<\/td> | KCNH5<\/td> | Developmental and epileptic encephalopathy 112<\/td>\n<\/tr>\n |
| 600359<\/td> | KCNJ1<\/td> | Bartter syndrome, type 2<\/td>\n<\/tr>\n |
| 602208<\/td> | KCNJ10<\/td> | Enlarged vestibular aqueduct, digenic; SESAME syndrome<\/td>\n<\/tr>\n |
| 600937<\/td> | KCNJ11<\/td> | Diabetes, permanent neonatal 2, with or without neurologic features; Diabetes mellitus, type 2, susceptibility to; Maturity-onset diabetes of the young, type 13; Diabetes mellitus, transient neonatal 3; Hyperinsulinemic hypoglycemia, familial, 2<\/td>\n<\/tr>\n |
| 603208<\/td> | KCNJ13<\/td> | Snowflake vitreoretinal degeneration; Leber congenital amaurosis 16<\/td>\n<\/tr>\n |
| 605722<\/td> | KCNJ16<\/td> | Hypokalemic tubulopathy and deafness<\/td>\n<\/tr>\n |
| 613236<\/td> | KCNJ18<\/td> | Thyrotoxic periodic paralysis, susceptibility to, 2<\/td>\n<\/tr>\n |
| 600681<\/td> | KCNJ2<\/td> | Atrial fibrillation, familial, 9; Andersen syndrome; Short QT syndrome 3<\/td>\n<\/tr>\n |
| 600734<\/td> | KCNJ5<\/td> | Long QT syndrome 13; Hyperaldosteronism, familial, type III<\/td>\n<\/tr>\n |
| 600877<\/td> | KCNJ6<\/td> | Keppen-Lubinsky syndrome<\/td>\n<\/tr>\n |
| 613655<\/td> | KCNK18<\/td> | Migraine, with or without aura, susceptibility to, 13<\/td>\n<\/tr>\n |
| 603220<\/td> | KCNK3<\/td> | Pulmonary hypertension, primary, 4<\/td>\n<\/tr>\n |
| 605720<\/td> | KCNK4<\/td> | Facial dysmorphism, hypertrichosis, epilepsy, intellectual\/developmental delay, and gingival overgrowth syndrome<\/td>\n<\/tr>\n |
| 605874<\/td> | KCNK9<\/td> | Birk-Barel syndrome<\/td>\n<\/tr>\n |
| 600150<\/td> | KCNMA1<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 16; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome<\/td>\n<\/tr>\n |
| 603951<\/td> | KCNMB1<\/td> | Hypertension, diastolic, resistance to<\/td>\n<\/tr>\n |
| 605879<\/td> | KCNN2<\/td> | Dystonia 34, myoclonic; Neurodevelopmental disorder with or without variable movement or behavioral abnormalities<\/td>\n<\/tr>\n |
| 602983<\/td> | KCNN3<\/td> | Zimmermann-Laband syndrome 3<\/td>\n<\/tr>\n |
| 602754<\/td> | KCNN4<\/td> | Dehydrated hereditary stomatocytosis 2<\/td>\n<\/tr>\n |
| 607542<\/td> | KCNQ1<\/td> | Short QT syndrome 2; Atrial fibrillation, familial, 3; Long QT syndrome 1; Long QT syndrome 1, acquired, susceptibility to; Jervell and Lange-Nielsen syndrome<\/td>\n<\/tr>\n |
| 604115<\/td> | KCNQ1OT1<\/td> | Beckwith-Wiedemann syndrome<\/td>\n<\/tr>\n |
| 602235<\/td> | KCNQ2<\/td> | Developmental and epileptic encephalopathy 7; Seizures, benign neonatal, 1; Myokymia<\/td>\n<\/tr>\n |
| 602232<\/td> | KCNQ3<\/td> | Seizures, benign neonatal, 2<\/td>\n<\/tr>\n |
| 603537<\/td> | KCNQ4<\/td> | Deafness 2A<\/td>\n<\/tr>\n |
| 607357<\/td> | KCNQ5<\/td> | Intellectual developmental disorder 46<\/td>\n<\/tr>\n |
| 608167<\/td> | KCNT1<\/td> | Developmental and epileptic encephalopathy 14; Epilepsy nocturnal frontal lobe, 5<\/td>\n<\/tr>\n |
| 610044<\/td> | KCNT2<\/td> | Developmental and epileptic encephalopathy 57<\/td>\n<\/tr>\n |
| 615215<\/td> | KCNU1<\/td> | Spermatogenic failure 79<\/td>\n<\/tr>\n |
| 607604<\/td> | KCNV2<\/td> | Retinal cone dystrophy 3B<\/td>\n<\/tr>\n |
| 613420<\/td> | KCTD1<\/td> | Scalp-ear-nipple syndrome<\/td>\n<\/tr>\n |
| 616386<\/td> | KCTD17<\/td> | Dystonia 26, myoclonic<\/td>\n<\/tr>\n |
| 611725<\/td> | KCTD7<\/td> | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions<\/td>\n<\/tr>\n |
| 609024<\/td> | KDELR2<\/td> | Osteogenesis imperfecta, type XXI<\/td>\n<\/tr>\n |
| 616758<\/td> | KDF1<\/td> | Ectodermal dysplasia 12, hypohidrotic\/hair\/tooth\/nail type<\/td>\n<\/tr>\n |
| 609132<\/td> | KDM1A<\/td> | Cleft palate, psychomotor retardation, and distinctive facial features<\/td>\n<\/tr>\n |
| 609373<\/td> | KDM3B<\/td> | Diets-Jongmans syndrome<\/td>\n<\/tr>\n |
| 609765<\/td> | KDM4B<\/td> | Intellectual developmental disorder 65<\/td>\n<\/tr>\n |
| 180202<\/td> | KDM5A<\/td> | El Hayek-Chahrour neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 605393<\/td> | KDM5B<\/td> | Intellectual developmental disorder 65<\/td>\n<\/tr>\n |
| 314690<\/td> | KDM5C<\/td> | Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive<\/td>\n<\/tr>\n |
| 300128<\/td> | KDM6A<\/td> | Kabuki syndrome 2, X-linked dominant<\/td>\n<\/tr>\n |
| 611577<\/td> | KDM6B<\/td> | Stolerman neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 191306<\/td> | KDR<\/td> | Hemangioma, capillary infantile, susceptibility to; Hemangioma, capillary infantile, somatic<\/td>\n<\/tr>\n |
| 136440<\/td> | KDSR<\/td> | Erythrokeratodermia variabilis et progressiva 4<\/td>\n<\/tr>\n |
| 613883<\/td> | KEL<\/td> | Blood group, Kell<\/td>\n<\/tr>\n |
| 603288<\/td> | KERA<\/td> | Cornea plana 2<\/td>\n<\/tr>\n |
| 611687<\/td> | KHDC3L<\/td> | Hydatidiform mole, recurrent, 2<\/td>\n<\/tr>\n |
| 614058<\/td> | KHK<\/td> | Fructosuria, essential<\/td>\n<\/tr>\n |
| 610178<\/td> | KIAA0586<\/td> | Short-rib thoracic dysplasia 14 with polydactyly; Joubert syndrome 23<\/td>\n<\/tr>\n |
| 617112<\/td> | KIAA0753<\/td> | Orofaciodigital syndrome XV; Joubert syndrome 38; Short-rib thoracic dysplasia 21 without polydactyly<\/td>\n<\/tr>\n |
| 617266<\/td> | KIAA0825<\/td> | Polydactyly, postaxial, type A10<\/td>\n<\/tr>\n |
| 613344<\/td> | KIAA1549<\/td> | Retinitis pigmentosa 86<\/td>\n<\/tr>\n |
| 615759<\/td> | KIDINS220<\/td> | Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis<\/td>\n<\/tr>\n |
| 148760<\/td> | KIF11<\/td> | Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development<\/td>\n<\/tr>\n |
| 611278<\/td> | KIF12<\/td> | Cholestasis, progressive familial intrahepatic, 8<\/td>\n<\/tr>\n |
| 611279<\/td> | KIF14<\/td> | Microcephaly 20, primary; Meckel syndrome 12<\/td>\n<\/tr>\n |
| 617569<\/td> | KIF15<\/td> | Braddock-Carey syndrome 2<\/td>\n<\/tr>\n |
| 601255<\/td> | KIF1A<\/td> | NESCAV syndrome; Neuropathy, hereditary sensory, type IIC; Spastic paraplegia 30; Spastic paraplegia 30<\/td>\n<\/tr>\n |
| 605995<\/td> | KIF1B<\/td> | Neuroblastoma, susceptibility to, 1, Somatic mutation; Charcot-Marie-Tooth disease, type 2A1<\/td>\n<\/tr>\n |
| 603060<\/td> | KIF1C<\/td> | Spastic ataxia 2<\/td>\n<\/tr>\n |
| 605664<\/td> | KIF20A<\/td> | Cardiomyopathy, familial restrictive, 6<\/td>\n<\/tr>\n |
| 608283<\/td> | KIF21A<\/td> | Fibrosis of extraocular muscles, congenital, 3B; Fibrosis of extraocular muscles, congenital, 1<\/td>\n<\/tr>\n |
| 603213<\/td> | KIF22<\/td> | Spondyloepimetaphyseal dysplasia with joint laxity, type 2<\/td>\n<\/tr>\n |
| 605064<\/td> | KIF23<\/td> | Anemia, congenital dyserythropoietic, type IIIA<\/td>\n<\/tr>\n |
| 613231<\/td> | KIF26A<\/td> | Cortical dysplasia, complex, with other brain malformations 11<\/td>\n<\/tr>\n |
| 602591<\/td> | KIF2A<\/td> | Cortical dysplasia, complex, with other brain malformations 3<\/td>\n<\/tr>\n |
| 603754<\/td> | KIF3B<\/td> | Retinitis pigmentosa 89<\/td>\n<\/tr>\n |
| 300521<\/td> | KIF4A<\/td> | Taurodontism, microdontia, and dens invaginatus, X-linked recessive; Intellectual developmental disorder, X-linked 100, X-linked recessive<\/td>\n<\/tr>\n |
| 602821<\/td> | KIF5A<\/td> | Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25; Spastic paraplegia 10<\/td>\n<\/tr>\n |
| 604593<\/td> | KIF5C<\/td> | Cortical dysplasia, complex, with other brain malformations 2<\/td>\n<\/tr>\n |
| 611254<\/td> | KIF7<\/td> | Joubert syndrome 12; Acrocallosal syndrome; Hydrolethalus syndrome 2; Al-Gazali-Bakalinova syndrome<\/td>\n<\/tr>\n |
| 609367<\/td> | KIFBP<\/td> | Goldberg-Shprintzen megacolon syndrome<\/td>\n<\/tr>\n |
| 607428<\/td> | KIRREL1<\/td> | Nephrotic syndrome, type 23<\/td>\n<\/tr>\n |
| 603286<\/td> | KISS1<\/td> | Hypogonadotropic hypogonadism 13 with or without anosmia<\/td>\n<\/tr>\n |
| 604161<\/td> | KISS1R<\/td> | Hypogonadotropic hypogonadism 8 with or without anosmia; Precocious puberty, central, 1<\/td>\n<\/tr>\n |
| 164920<\/td> | KIT<\/td> | Gastrointestinal stromal tumor, familial, Isolated cases; Mastocytosis, cutaneous; Piebaldism; Germ cell tumors, somatic; Mastocytosis, systemic, somatic; Leukemia, acute myeloid, somatic<\/td>\n<\/tr>\n |
| 184745<\/td> | KITLG<\/td> | Hyperpigmentation with or without hypopigmentation; Waardenburg syndrome, type 2F; Deafness 69, unilateral or asymmetric; Skin\/hair\/eye pigmentation 7, blond\/brown hair<\/td>\n<\/tr>\n |
| 615757<\/td> | KIZ<\/td> | Retinitis pigmentosa 69<\/td>\n<\/tr>\n |
| 604824<\/td> | KL<\/td> | Tumoral calcinosis, hyperphosphatemic, familial, 3<\/td>\n<\/tr>\n |
| 611729<\/td> | KLC2<\/td> | Spastic paraplegia, optic atrophy, and neuropathy<\/td>\n<\/tr>\n |
| 600599<\/td> | KLF1<\/td> | Blood group–Lutheran inhibitor; Hereditary persistence of fetal hemoglobin; Anemia, dyserythropoietic congenital, type IVa; Anemia, congenital dyserythropoietic, type IVb<\/td>\n<\/tr>\n |
| 603301<\/td> | KLF11<\/td> | Maturity-onset diabetes of the young, type VII<\/td>\n<\/tr>\n |
| 602053<\/td> | KLF6<\/td> | Gastric cancer, somatic; Prostate cancer, somatic<\/td>\n<\/tr>\n |
| 613169<\/td> | KLHDC8B<\/td> | Hodgkin lymphoma, susceptibility to<\/td>\n<\/tr>\n |
| 608778<\/td> | KLHL10<\/td> | Spermatogenic failure 11<\/td>\n<\/tr>\n |
| 300980<\/td> | KLHL15<\/td> | Intellectual developmental disorder, X-linked 103, X-linked recessive<\/td>\n<\/tr>\n |
| 611295<\/td> | KLHL24<\/td> | Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy<\/td>\n<\/tr>\n |
| 605775<\/td> | KLHL3<\/td> | Pseudohypoaldosteronism, type IID<\/td>\n<\/tr>\n |
| 615340<\/td> | KLHL40<\/td> | Nemaline myopathy 8<\/td>\n<\/tr>\n |
| 607701<\/td> | KLHL41<\/td> | Nemaline myopathy 9<\/td>\n<\/tr>\n |
| 611119<\/td> | KLHL7<\/td> | Retinitis pigmentosa 42; PERCHING syndrome<\/td>\n<\/tr>\n |
| 147910<\/td> | KLK1<\/td> | Kallikrein, decreased urinary activity of<\/td>\n<\/tr>\n |
| 604434<\/td> | KLK11<\/td> | Ichthyosis with erythrokeratoderma<\/td>\n<\/tr>\n |
| 603767<\/td> | KLK4<\/td> | Amelogenesis imperfecta, type IIA1<\/td>\n<\/tr>\n |
| 229000<\/td> | KLKB1<\/td> | Fletcher factor (prekallikrein) deficiency<\/td>\n<\/tr>\n |
| 612105<\/td> | KLLN<\/td> | Cowden syndrome 4<\/td>\n<\/tr>\n |
| 159555<\/td> | KMT2A<\/td> | Wiedemann-Steiner syndrome<\/td>\n<\/tr>\n |
| 606834<\/td> | KMT2B<\/td> | Intellectual developmental disorder 68; Dystonia 28, childhood-onset<\/td>\n<\/tr>\n |
| 606833<\/td> | KMT2C<\/td> | Kleefstra syndrome 2<\/td>\n<\/tr>\n |
| 602113<\/td> | KMT2D<\/td> | Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome; Kabuki syndrome 1<\/td>\n<\/tr>\n |
| 608444<\/td> | KMT2E<\/td> | O’Donnell-Luria-Rodan syndrome<\/td>\n<\/tr>\n |
| 610881<\/td> | KMT5B<\/td> | Intellectual developmental disorder 51<\/td>\n<\/tr>\n |
| 612358<\/td> | KNG1<\/td> | Kininogen deficiency; Angioedema, hereditary, 6; High molecular weight kininogen deficiency<\/td>\n<\/tr>\n |
| 609173<\/td> | KNL1<\/td> | Microcephaly 4, primary<\/td>\n<\/tr>\n |
| 614718<\/td> | KNSTRN<\/td> | Roifman-Chitayat syndrome, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 606242<\/td> | KONDS<\/td> | Kondoh syndrome<\/td>\n<\/tr>\n |
| 601892<\/td> | KPNA3<\/td> | Spastic paraplegia 88<\/td>\n<\/tr>\n |
| 614107<\/td> | KPNA7<\/td> | Oocyte\/zygote\/embryo maturation arrest 17<\/td>\n<\/tr>\n |
| 615620<\/td> | KPTN<\/td> | Intellectual developmental disorder 41<\/td>\n<\/tr>\n |
| 190070<\/td> | KRAS<\/td> | Gastric cancer, somatic; Oculoectodermal syndrome, somatic; Breast cancer, somatic; Noonan syndrome 3; RAS-associated autoimmune leukoproliferative disorder; Arteriovenous malformation of the brain, somatic; Lung cancer, somatic; Pancreatic carcinoma, somatic; Leukemia, acute myeloid, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Cardiofaciocutaneous syndrome 2; Bladder cancer, somatic<\/td>\n<\/tr>\n |
| 609898<\/td> | KREMEN1<\/td> | Ectodermal dysplasia 13, hair\/tooth type<\/td>\n<\/tr>\n |
| 604214<\/td> | KRIT1<\/td> | Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations; Cerebral cavernous malformations-1; Cavernous malformations of CNS and retina<\/td>\n<\/tr>\n |
| 139350<\/td> | KRT1<\/td> | Ichthyosis, annular epidermolytic 2; Palmoplantar keratoderma, nonepidermolytic; Epidermolytic hyperkeratosis 1; Palmoplantar keratoderma, epidermolytic, 2; Keratosis palmoplantaris striata III; Ichthyosis histrix, Curth-Macklin type<\/td>\n<\/tr>\n |
| 148080<\/td> | KRT10<\/td> | Ichthyosis, annular epidermolytic 1; Epidermolytic hyperkeratosis 2B; Epidermolytic hyperkeratosis 2A; Ichthyosis histrix, Lambert type; Ichthyosis with confetti<\/td>\n<\/tr>\n |
| 601687<\/td> | KRT12<\/td> | Meesmann corneal dystrophy 1<\/td>\n<\/tr>\n |
| 148065<\/td> | KRT13<\/td> | White sponge nevus 2<\/td>\n<\/tr>\n |
| 148066<\/td> | KRT14<\/td> | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe; Epidermolysis bullosa simplex 1C, localized; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex 1A, generalized severe; Naegeli-Franceschetti-Jadassohn syndrome; Epidermolysis bullosa simplex 1B, generalized intermediate<\/td>\n<\/tr>\n |
| 148067<\/td> | KRT16<\/td> | Palmoplantar keratoderma, nonepidermolytic, focal; Pachyonychia congenita 1<\/td>\n<\/tr>\n |
| 148069<\/td> | KRT17<\/td> | Steatocystoma multiplex; Pachyonychia congenita 2<\/td>\n<\/tr>\n |
| 148070<\/td> | KRT18<\/td> | Cirrhosis, cryptogenic; Cirrhosis, noncryptogenic, susceptibility to<\/td>\n<\/tr>\n |
| 600194<\/td> | KRT2<\/td> | Ichthyosis bullosa of Siemens<\/td>\n<\/tr>\n |
| 616646<\/td> | KRT25<\/td> | Woolly hair 3<\/td>\n<\/tr>\n |
| 148043<\/td> | KRT3<\/td> | Meesmann corneal dystrophy 2<\/td>\n<\/tr>\n |
| 123940<\/td> | KRT4<\/td> | White sponge nevus 1<\/td>\n<\/tr>\n |
| 148040<\/td> | KRT5<\/td> | Epidermolysis bullosa simplex 2A, generalized severe; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2F, with mottled pigmentation; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2E, with migratory circinate erythema<\/td>\n<\/tr>\n |
| 148041<\/td> | KRT6A<\/td> | Pachyonychia congenita 3<\/td>\n<\/tr>\n |
| 148042<\/td> | KRT6B<\/td> | Pachyonychia congenita 4<\/td>\n<\/tr>\n |
| 612315<\/td> | KRT6C<\/td> | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse<\/td>\n<\/tr>\n |
| 608245<\/td> | KRT71<\/td> | Hypotrichosis 13<\/td>\n<\/tr>\n |
| 608248<\/td> | KRT74<\/td> | Woolly hair; Hypotrichosis 3; Ectodermal dysplasia 7, hair\/nail type<\/td>\n<\/tr>\n |
| 609025<\/td> | KRT75<\/td> | Pseudofolliculitis barbae, susceptibility to<\/td>\n<\/tr>\n |
| 602153<\/td> | KRT81<\/td> | Monilethrix<\/td>\n<\/tr>\n |
| 602765<\/td> | KRT83<\/td> | Monilethrix; Erythrokeratodermia variabilis et progressiva 5<\/td>\n<\/tr>\n |
| 602767<\/td> | KRT85<\/td> | Ectodermal dysplasia 4, hair\/nail type<\/td>\n<\/tr>\n |
| 601928<\/td> | KRT86<\/td> | Monilethrix<\/td>\n<\/tr>\n |
| 607606<\/td> | KRT9<\/td> | Palmoplantar keratoderma, epidermolytic, 1<\/td>\n<\/tr>\n |
| 608932<\/td> | KTCN2<\/td> | Keratoconus 2<\/td>\n<\/tr>\n |
| 608586<\/td> | KTCN3<\/td> | Keratoconus 3<\/td>\n<\/tr>\n |
| 609271<\/td> | KTCN4<\/td> | Keratoconus 4<\/td>\n<\/tr>\n |
| 614622<\/td> | KTCN5<\/td> | Keratoconus 5<\/td>\n<\/tr>\n |
| 614623<\/td> | KTCN6<\/td> | Keratoconus 6<\/td>\n<\/tr>\n |
| 614629<\/td> | KTCN7<\/td> | Keratoconus 7<\/td>\n<\/tr>\n |
| 614628<\/td> | KTCN8<\/td> | Keratoconus 8<\/td>\n<\/tr>\n |
| 149000<\/td> | KTWS<\/td> | Klippel-Trenaunay-Weber syndrome, Isolated cases<\/td>\n<\/tr>\n |
| 605739<\/td> | KY<\/td> | Myopathy, myofibrillar, 7<\/td>\n<\/tr>\n |
| 605197<\/td> | KYNU<\/td> | Hydroxykynureninuria; Vertebral, cardiac, renal, and limb defects syndrome 2<\/td>\n<\/tr>\n |
| 610170<\/td> | KYPSC1<\/td> | Kyphoscoliosis 1<\/td>\n<\/tr>\n |
| 308840<\/td> | L1CAM<\/td> | MASA syndrome, X-linked recessive; Hydrocephalus, congenital, X-linked, X-linked recessive; Corpus callosum, partial agenesis of, X-linked recessive<\/td>\n<\/tr>\n |
| 609584<\/td> | L2HGDH<\/td> | L-2-hydroxyglutaric aciduria<\/td>\n<\/tr>\n |
| 613409<\/td> | LACC1<\/td> | Juvenile arthritis<\/td>\n<\/tr>\n |
| 300060<\/td> | LAGE3<\/td> | Galloway-Mowat syndrome 2, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 247640<\/td> | LALL<\/td> | Leukemia, acute lymphoblastic<\/td>\n<\/tr>\n |
| 150320<\/td> | LAMA1<\/td> | Poretti-Boltshauser syndrome<\/td>\n<\/tr>\n |
| 156225<\/td> | LAMA2<\/td> | Muscular dystrophy, limb-girdle 23; Muscular dystrophy, congenital, merosin deficient or partially deficient<\/td>\n<\/tr>\n |
| 600805<\/td> | LAMA3<\/td> | Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous; Epidermolysis bullosa, junctional 2B, severe<\/td>\n<\/tr>\n |
| 600133<\/td> | LAMA4<\/td> | Cardiomyopathy, dilated, 1JJ<\/td>\n<\/tr>\n |
| 601033<\/td> | LAMA5<\/td> | Nephrotic syndrome, type 26; Bent bone dysplasia syndrome 2<\/td>\n<\/tr>\n |
| 150240<\/td> | LAMB1<\/td> | Lissencephaly 5<\/td>\n<\/tr>\n |
| 150325<\/td> | LAMB2<\/td> | Nephrotic syndrome, type 5, with or without ocular abnormalities; Pierson syndrome<\/td>\n<\/tr>\n |
| 150310<\/td> | LAMB3<\/td> | Epidermolysis bullosa, junctional 1B, severe; Epidermolysis bullosa, junctional 1A, intermediate; Amelogenesis imperfecta, type IA<\/td>\n<\/tr>\n |
| 150292<\/td> | LAMC2<\/td> | Epidermolysis bullosa, junctional 3B, severe; Epidermolysis bullosa, junctional 3A, intermediate<\/td>\n<\/tr>\n |
| 604349<\/td> | LAMC3<\/td> | Cortical malformations, occipital<\/td>\n<\/tr>\n |
| 309060<\/td> | LAMP2<\/td> | Danon disease, X-linked dominant<\/td>\n<\/tr>\n |
| 610389<\/td> | LAMTOR2<\/td> | Immunodeficiency due to defect in MAPBP-interacting protein<\/td>\n<\/tr>\n |
| 150270<\/td> | LAP<\/td> | Laryngeal adductor paralysis<\/td>\n<\/tr>\n |
| 603590<\/td> | LARGE1<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6<\/td>\n<\/tr>\n |
| 612026<\/td> | LARP7<\/td> | Alazami syndrome<\/td>\n<\/tr>\n |
| 151350<\/td> | LARS1<\/td> | Infantile liver failure syndrome 1<\/td>\n<\/tr>\n |
| 604544<\/td> | LARS2<\/td> | Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia<\/td>\n<\/tr>\n |
| 300964<\/td> | LAS1L<\/td> | Wilson-Turner syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 602354<\/td> | LAT<\/td> | Immunodeficiency 52<\/td>\n<\/tr>\n |
| 612729<\/td> | LBMQTL1<\/td> | Lean body mass QTL 1<\/td>\n<\/tr>\n |
| 600024<\/td> | LBR<\/td> | Pelger-Huet anomaly; Reynolds syndrome; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly; Greenberg skeletal dysplasia<\/td>\n<\/tr>\n |
| 604255<\/td> | LBX1<\/td> | Central hypoventilation syndrome, congenital, 3<\/td>\n<\/tr>\n |
| 611408<\/td> | LCA5<\/td> | Leber congenital amaurosis 5<\/td>\n<\/tr>\n |
| 606967<\/td> | LCAT<\/td> | Fish-eye disease; Norum disease<\/td>\n<\/tr>\n |
| 153390<\/td> | LCK<\/td> | Immunodeficiency 22<\/td>\n<\/tr>\n |
| 601603<\/td> | LCP2<\/td> | Immunodeficiency 81<\/td>\n<\/tr>\n |
| 214900<\/td> | LCS1<\/td> | Cholestasis-lymphedema syndrome<\/td>\n<\/tr>\n |
| 603202<\/td> | LCT<\/td> | Lactase deficiency, congenital<\/td>\n<\/tr>\n |
| 605906<\/td> | LDB3<\/td> | Left ventricular noncompaction 3; Cardiomyopathy, hypertrophic, 24; Myopathy, myofibrillar, 4; Cardiomyopathy, dilated, 1C, with or without LVNC<\/td>\n<\/tr>\n |
| 150000<\/td> | LDHA<\/td> | Glycogen storage disease XI<\/td>\n<\/tr>\n |
| 150100<\/td> | LDHB<\/td> | Lactate dehydrogenase-B deficiency<\/td>\n<\/tr>\n |
| 607490<\/td> | LDHD<\/td> | D-lactic aciduria with susceptibility to gout<\/td>\n<\/tr>\n |
| 606945<\/td> | LDLR<\/td> | LDL cholesterol level QTL2; Hypercholesterolemia, familial, 1<\/td>\n<\/tr>\n |
| 605747<\/td> | LDLRAP1<\/td> | Hypercholesterolemia, familial, 4<\/td>\n<\/tr>\n |
| 616312<\/td> | LEMD2<\/td> | Marbach-Rustad progeroid syndrome; Cataract 46, juvenile-onset<\/td>\n<\/tr>\n |
| 607844<\/td> | LEMD3<\/td> | Buschke-Ollendorff syndrome; Osteopoikilosis with or without melorheostosis<\/td>\n<\/tr>\n |
| 164160<\/td> | LEP<\/td> | Obesity, morbid, due to leptin deficiency<\/td>\n<\/tr>\n |
| 601694<\/td> | LEPQTL1<\/td> | Leptin serum levels QTL1<\/td>\n<\/tr>\n |
| 601007<\/td> | LEPR<\/td> | Obesity, morbid, due to leptin receptor deficiency<\/td>\n<\/tr>\n |
| 604407<\/td> | LETM1<\/td> | Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction<\/td>\n<\/tr>\n |
| 602576<\/td> | LFNG<\/td> | Spondylocostal dysostosis 3<\/td>\n<\/tr>\n |
| 150571<\/td> | LGALS2<\/td> | Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 604619<\/td> | LGI1<\/td> | Epilepsy, familial temporal lobe, 1<\/td>\n<\/tr>\n |
| 608302<\/td> | LGI3<\/td> | Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects<\/td>\n<\/tr>\n |
| 608303<\/td> | LGI4<\/td> | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect<\/td>\n<\/tr>\n |
| 613530<\/td> | LGMD1H<\/td> | Muscular dystrophy, limb-girdle, type 1H<\/td>\n<\/tr>\n |
| 606666<\/td> | LGR4<\/td> | Delayed puberty, self-limited; Bone mineral density, low, susceptibility to<\/td>\n<\/tr>\n |
| 152430<\/td> | LGV1<\/td> | Longevity 1<\/td>\n<\/tr>\n |
| 606460<\/td> | LGV2<\/td> | Longevity 2<\/td>\n<\/tr>\n |
| 152780<\/td> | LHB<\/td> | Hypogonadotropic hypogonadism 23 with or without anosmia<\/td>\n<\/tr>\n |
| 152790<\/td> | LHCGR<\/td> | Leydig cell adenoma, somatic, with precocious puberty; Leydig cell hypoplasia with pseudohermaphroditism; Leydig cell hypoplasia with hypergonadotropic hypogonadism; Luteinizing hormone resistance, female; Precocious puberty, male<\/td>\n<\/tr>\n |
| 609427<\/td> | LHFPL5<\/td> | Deafness 67<\/td>\n<\/tr>\n |
| 600577<\/td> | LHX3<\/td> | Pituitary hormone deficiency, combined, 3<\/td>\n<\/tr>\n |
| 602146<\/td> | LHX4<\/td> | Pituitary hormone deficiency, combined, 4<\/td>\n<\/tr>\n |
| 607031<\/td> | LIAS<\/td> | Hyperglycinemia, lactic acidosis, and seizures<\/td>\n<\/tr>\n |
| 151443<\/td> | LIFR<\/td> | Stuve-Wiedemann syndrome\/Schwartz-Jampel type 2 syndrome<\/td>\n<\/tr>\n |
| 126391<\/td> | LIG1<\/td> | Immunodeficiency 96<\/td>\n<\/tr>\n |
| 600940<\/td> | LIG3<\/td> | Mitochondrial DNA depletion syndrome 20 (MNGIE type)<\/td>\n<\/tr>\n |
| 601837<\/td> | LIG4<\/td> | LIG4 syndrome; Multiple myeloma, resistance to, Somatic mutation<\/td>\n<\/tr>\n |
| 154045<\/td> | LIM2<\/td> | Cataract 19, multiple types<\/td>\n<\/tr>\n |
| 608364<\/td> | LIMA1<\/td> | Low density lipoprotein cholesterol level QTL 8<\/td>\n<\/tr>\n |
| 607908<\/td> | LIMS2<\/td> | Muscular dystrophy, with cardiomyopathy and triangular tongue<\/td>\n<\/tr>\n |
| 609791<\/td> | LINGO1<\/td> | Intellectual developmental disorder 64<\/td>\n<\/tr>\n |
| 610350<\/td> | LINS1<\/td> | Intellectual developmental disorder 27<\/td>\n<\/tr>\n |
| 613497<\/td> | LIPA<\/td> | Wolman disease; Cholesteryl ester storage disease<\/td>\n<\/tr>\n |
| 151670<\/td> | LIPC<\/td> | Diabetes mellitus, noninsulin-dependent; Hepatic lipase deficiency; High density lipoprotein cholesterol level QTL 12<\/td>\n<\/tr>\n |
| 151750<\/td> | LIPE<\/td> | Lipodystrophy, familial partial, type 6<\/td>\n<\/tr>\n |
| 607365<\/td> | LIPH<\/td> | Hypotrichosis 7; Woolly hair 2 with or without hypotrichosis<\/td>\n<\/tr>\n |
| 613924<\/td> | LIPN<\/td> | Ichthyosis, congenital 8<\/td>\n<\/tr>\n |
| 610284<\/td> | LIPT1<\/td> | Lipoyltransferase 1 deficiency<\/td>\n<\/tr>\n |
| 617659<\/td> | LIPT2<\/td> | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities<\/td>\n<\/tr>\n |
| 603795<\/td> | LITAF<\/td> | Charcot-Marie-Tooth disease, type 1C<\/td>\n<\/tr>\n |
| 601567<\/td> | LMAN1<\/td> | Combined factor V and VIII deficiency<\/td>\n<\/tr>\n |
| 609552<\/td> | LMAN2L<\/td> | Intellectual developmental disorder 69; Intellectual developmental disorder 52<\/td>\n<\/tr>\n |
| 605522<\/td> | LMBR1<\/td> | Syndactyly, type IV; Laurin-Sandrow syndrome; Acheiropody; Triphalangeal thumb-polysyndactyly syndrome<\/td>\n<\/tr>\n |
| 612625<\/td> | LMBRD1<\/td> | Methylmalonic aciduria and homocystinuria, cblF type<\/td>\n<\/tr>\n |
| 619490<\/td> | LMBRD2<\/td> | Developmental delay with variable neurologic and brain abnormalities<\/td>\n<\/tr>\n |
| 611761<\/td> | LMF1<\/td> | Lipase deficiency, combined<\/td>\n<\/tr>\n |
| 150330<\/td> | LMNA<\/td> | Mandibuloacral dysplasia; Heart-hand syndrome, Slovenian type; Cardiomyopathy, dilated, 1A; Emery-Dreifuss muscular dystrophy 3; Restrictive dermopathy 2; Charcot-Marie-Tooth disease, type 2B1; Emery-Dreifuss muscular dystrophy 2; Hutchinson-Gilford progeria; Lipodystrophy, familial partial, type 2; Muscular dystrophy, congenital; Malouf syndrome<\/td>\n<\/tr>\n |
| 150340<\/td> | LMNB1<\/td> | Leukodystrophy, adult-onset; Microcephaly 26, primary<\/td>\n<\/tr>\n |
| 150341<\/td> | LMNB2<\/td> | Microcephaly 27, primary; Epilepsy, progressive myoclonic, 9; Lipodystrophy, partial, acquired, susceptibility to<\/td>\n<\/tr>\n |
| 186921<\/td> | LMO1<\/td> | Leukemia, T-cell acute lymphoblastic<\/td>\n<\/tr>\n |
| 180385<\/td> | LMO2<\/td> | Leukemia, acute T-cell<\/td>\n<\/tr>\n |
| 602715<\/td> | LMOD1<\/td> | Megacystis-microcolon-intestinal hypoperistalsis syndrome 3<\/td>\n<\/tr>\n |
| 608006<\/td> | LMOD2<\/td> | Cardiomyopathy, dilated, 2G<\/td>\n<\/tr>\n |
| 616112<\/td> | LMOD3<\/td> | Nemaline myopathy 10<\/td>\n<\/tr>\n |
| 611944<\/td> | LMPH1B<\/td> | Lymphatic malformation 2<\/td>\n<\/tr>\n |
| 600298<\/td> | LMX1A<\/td> | Deafness 7<\/td>\n<\/tr>\n |
| 602575<\/td> | LMX1B<\/td> | Focal segmental glomerulosclerosis 10; Nail-patella syndrome<\/td>\n<\/tr>\n |
| 608935<\/td> | LNCR1<\/td> | Lung cancer susceptibility<\/td>\n<\/tr>\n |
| 612571<\/td> | LNCR3<\/td> | Lung cancer susceptibility 3<\/td>\n<\/tr>\n |
| 612593<\/td> | LNCR4<\/td> | Lung cancer susceptibility 4<\/td>\n<\/tr>\n |
| 614210<\/td> | LNCR5<\/td> | Lung cancer susceptibility 5<\/td>\n<\/tr>\n |
| 610236<\/td> | LNPK<\/td> | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum<\/td>\n<\/tr>\n |
| 605490<\/td> | LONP1<\/td> | CODAS syndrome<\/td>\n<\/tr>\n |
| 152445<\/td> | LORICRIN<\/td> | Vohwinkel syndrome with ichthyosis<\/td>\n<\/tr>\n |
| 153455<\/td> | LOX<\/td> | Aortic aneurysm, familial thoracic 10<\/td>\n<\/tr>\n |
| 613072<\/td> | LOXHD1<\/td> | Deafness 77<\/td>\n<\/tr>\n |
| 153456<\/td> | LOXL1<\/td> | Exfoliation syndrome, susceptibility to<\/td>\n<\/tr>\n |
| 607163<\/td> | LOXL3<\/td> | Myopia 28<\/td>\n<\/tr>\n |
| 152200<\/td> | LPA<\/td> | LPA deficiency, congenital; Coronary artery disease, susceptibility to<\/td>\n<\/tr>\n |
| 609239<\/td> | LPAR6<\/td> | Hypotrichosis 8; Woolly hair 1, with or without hypotrichosis<\/td>\n<\/tr>\n |
| 605518<\/td> | LPIN1<\/td> | Myoglobinuria, acute recurrent<\/td>\n<\/tr>\n |
| 605519<\/td> | LPIN2<\/td> | Majeed syndrome<\/td>\n<\/tr>\n |
| 609708<\/td> | LPL<\/td> | Lipoprotein lipase deficiency; High density lipoprotein cholesterol level QTL 11; Combined hyperlipidemia, familial<\/td>\n<\/tr>\n |
| 600700<\/td> | LPP<\/td> | Lipoma; Leukemia, acute myeloid, Somatic mutation<\/td>\n<\/tr>\n |
| 609888<\/td> | LPRS<\/td> | Leprosy, paucibacillary type, susceptibility to<\/td>\n<\/tr>\n |
| 613407<\/td> | LPRS6<\/td> | Leprosy, susceptibility to, 6<\/td>\n<\/tr>\n |
| 604863<\/td> | LRAT<\/td> | Leber congenital amaurosis 14; Retinal dystrophy, early-onset severe; Retinitis pigmentosa, juvenile<\/td>\n<\/tr>\n |
| 606453<\/td> | LRBA<\/td> | Immunodeficiency, common variable, 8, with autoimmunity<\/td>\n<\/tr>\n |
| 615354<\/td> | LRIF1<\/td> | Facioscapulohumeral muscular dystrophy 3, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 608869<\/td> | LRIG2<\/td> | Urofacial syndrome 2<\/td>\n<\/tr>\n |
| 615004<\/td> | LRIT3<\/td> | Night blindness, congenital stationary (complete), 1F<\/td>\n<\/tr>\n |
| 614537<\/td> | LRMDA<\/td> | Albinism, oculocutaneous, type VII<\/td>\n<\/tr>\n |
| 107770<\/td> | LRP1<\/td> | Keratosis pilaris atrophicans; Developmental dysplasia of the hip 3<\/td>\n<\/tr>\n |
| 618299<\/td> | LRP12<\/td> | Oculopharyngodistal myopathy 1; Amyotrophic lateral sclerosis 28<\/td>\n<\/tr>\n |
| 600073<\/td> | LRP2<\/td> | Donnai-Barrow syndrome<\/td>\n<\/tr>\n |
| 604270<\/td> | LRP4<\/td> | Myasthenic syndrome, congenital, 17; Sclerosteosis 2; Cenani-Lenz syndactyly syndrome<\/td>\n<\/tr>\n |
| 603506<\/td> | LRP5<\/td> | Osteopetrosis 1; Bone mineral density variability 1; Polycystic liver disease 4 with or without kidney cysts; Endosteal hyperostosis; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4<\/td>\n<\/tr>\n |
| 603507<\/td> | LRP6<\/td> | Coronary artery disease, 2; Tooth agenesis, selective, 7<\/td>\n<\/tr>\n |
| 602600<\/td> | LRP8<\/td> | Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 104225<\/td> | LRPAP1<\/td> | Myopia 23<\/td>\n<\/tr>\n |
| 607544<\/td> | LRPPRC<\/td> | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)<\/td>\n<\/tr>\n |
| 620708<\/td> | LRRC23<\/td> | Spermatogenic failure 92<\/td>\n<\/tr>\n |
| 137207<\/td> | LRRC32<\/td> | Cleft palate, proliferative retinopathy, and developmental delay<\/td>\n<\/tr>\n |
| 618227<\/td> | LRRC56<\/td> | Ciliary dyskinesia, primary, 39<\/td>\n<\/tr>\n |
| 608360<\/td> | LRRC8A<\/td> | Agammaglobulinemia 5<\/td>\n<\/tr>\n |
| 610986<\/td> | LRRK1<\/td> | Osteosclerotic metaphyseal dysplasia<\/td>\n<\/tr>\n |
| 609007<\/td> | LRRK2<\/td> | Parkinson disease 8<\/td>\n<\/tr>\n |
| 610933<\/td> | LRSAM1<\/td> | Charcot-Marie-Tooth disease, axonal, type 2P<\/td>\n<\/tr>\n |
| 608545<\/td> | LRSL<\/td> | Larsen-like syndrome, Isolated cases<\/td>\n<\/tr>\n |
| 612414<\/td> | LRTOMT<\/td> | Deafness 63<\/td>\n<\/tr>\n |
| 617910<\/td> | LSM11<\/td> | Aicardi-Goutieres syndrome 8<\/td>\n<\/tr>\n |
| 600909<\/td> | LSS<\/td> | Hypotrichosis 14; Cataract 44; Alopecia-intellectual disability syndrome 4<\/td>\n<\/tr>\n |
| 153440<\/td> | LTA<\/td> | Psoriatic arthritis, susceptibility to; Myocardial infarction, susceptibility to; Leprosy, susceptibility to, 4<\/td>\n<\/tr>\n |
| 150390<\/td> | LTBP1<\/td> | Cutis laxa, type IIE<\/td>\n<\/tr>\n |
| 602091<\/td> | LTBP2<\/td> | Glaucoma 3, primary congenital, D; Microspherophakia and\/or megalocornea, with ectopia lentis and with or without secondary glaucoma; Weill-Marchesani syndrome 3, recessive<\/td>\n<\/tr>\n |
| 602090<\/td> | LTBP3<\/td> | Dental anomalies and short stature; Geleophysic dysplasia 3<\/td>\n<\/tr>\n |
| 604710<\/td> | LTBP4<\/td> | Cutis laxa, type IC<\/td>\n<\/tr>\n |
| 246530<\/td> | LTC4S<\/td> | Leukotriene C4 synthase deficiency<\/td>\n<\/tr>\n |
| 620074<\/td> | LTV1<\/td> | Inflammatory poikiloderma with hair abnormalities and acral keratoses<\/td>\n<\/tr>\n |
| 609470<\/td> | LVNC2<\/td> | Left ventricular noncompaction 2<\/td>\n<\/tr>\n |
| 151440<\/td> | LYL1<\/td> | Leukemia, T-cell acute lymphoblastoid<\/td>\n<\/tr>\n |
| 165120<\/td> | LYN<\/td> | Autoinflammatory disease, systemic, with vasculitis<\/td>\n<\/tr>\n |
| 613311<\/td> | LYRM4<\/td> | Combined oxidative phosphorylation deficiency 19<\/td>\n<\/tr>\n |
| 615831<\/td> | LYRM7<\/td> | Mitochondrial complex III deficiency, nuclear type 8<\/td>\n<\/tr>\n |
| 619332<\/td> | LYSET<\/td> | Dysostosis multiplex, Ain-Naz type<\/td>\n<\/tr>\n |
| 606897<\/td> | LYST<\/td> | Chediak-Higashi syndrome<\/td>\n<\/tr>\n |
| 153450<\/td> | LYZ<\/td> | Amyloidosis, hereditary systemic 5<\/td>\n<\/tr>\n |
| 606568<\/td> | LZTFL1<\/td> | Bardet-Biedl syndrome 17<\/td>\n<\/tr>\n |
| 600574<\/td> | LZTR1<\/td> | Noonan syndrome 2; Noonan syndrome 10; Schwannomatosis-2, susceptibility to<\/td>\n<\/tr>\n |
| 606551<\/td> | LZTS1<\/td> | Esophageal squamous cell carcinoma, somatic<\/td>\n<\/tr>\n |
| 619098<\/td> | M1AP<\/td> | Spermatogenic failure 48<\/td>\n<\/tr>\n |
| 601280<\/td> | MAB21L1<\/td> | Cerebellar, ocular, craniofacial, and genital syndrome<\/td>\n<\/tr>\n |
| 604357<\/td> | MAB21L2<\/td> | Microphthalmia\/coloboma and skeletal dysplasia syndrome<\/td>\n<\/tr>\n |
| 608271<\/td> | MACF1<\/td> | Lissencephaly 9 with complex brainstem malformation<\/td>\n<\/tr>\n |
| 613545<\/td> | MACST<\/td> | Macrostomia<\/td>\n<\/tr>\n |
| 602686<\/td> | MAD1L1<\/td> | Prostate cancer, somatic; Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition; Lymphoma, B-cell, somatic<\/td>\n<\/tr>\n |
| 604094<\/td> | MAD2L2<\/td> | Fanconi anemia, complementation group V<\/td>\n<\/tr>\n |
| 603584<\/td> | MADD<\/td> | Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia; DEEAH syndrome<\/td>\n<\/tr>\n |
| 177075<\/td> | MAF<\/td> | Cataract 21, multiple types; Ayme-Gripp syndrome<\/td>\n<\/tr>\n |
| 610303<\/td> | MAFA<\/td> | Insulinomatosis and diabetes mellitus<\/td>\n<\/tr>\n |
| 608968<\/td> | MAFB<\/td> | Duane retraction syndrome 3; Multicentric carpotarsal osteolysis syndrome<\/td>\n<\/tr>\n |
| 125480<\/td> | MAFD1<\/td> | Major affective disorder 1<\/td>\n<\/tr>\n |
| 309200<\/td> | MAFD2<\/td> | Major affective disorder 2, X-linked dominant<\/td>\n<\/tr>\n |
| 609633<\/td> | MAFD3<\/td> | Major affective disorder 3, early onset<\/td>\n<\/tr>\n |
| 611247<\/td> | MAFD4<\/td> | Major affective disorder 4<\/td>\n<\/tr>\n |
| 611535<\/td> | MAFD5<\/td> | Major affective disorder 5<\/td>\n<\/tr>\n |
| 611536<\/td> | MAFD6<\/td> | Major affective disorder 6<\/td>\n<\/tr>\n |
| 612357<\/td> | MAFD8<\/td> | Major affective disorder-8, susceptibility to<\/td>\n<\/tr>\n |
| 612372<\/td> | MAFD9<\/td> | Major affective disorder-9, susceptibility to<\/td>\n<\/tr>\n |
| 159460<\/td> | MAG<\/td> | Spastic paraplegia 75<\/td>\n<\/tr>\n |
| 300470<\/td> | MAGED2<\/td> | Bartter syndrome, type 5, antenatal, transient, X-linked recessive<\/td>\n<\/tr>\n |
| 605283<\/td> | MAGEL2<\/td> | Schaaf-Yang syndrome<\/td>\n<\/tr>\n |
| 606382<\/td> | MAGI2<\/td> | Nephrotic syndrome, type 15<\/td>\n<\/tr>\n |
| 300715<\/td> | MAGT1<\/td> | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive; Congenital disorder of glycosylation, type Icc, X-linked recessive<\/td>\n<\/tr>\n |
| 154235<\/td> | MAK<\/td> | Retinitis pigmentosa 62<\/td>\n<\/tr>\n |
| 188860<\/td> | MAL<\/td> | Leukodystrophy, hypomyelinating, 28<\/td>\n<\/tr>\n |
| 604860<\/td> | MALT1<\/td> | Immunodeficiency 12<\/td>\n<\/tr>\n |
| 607537<\/td> | MAML2<\/td> | Mucoepidermoid salivary gland carcinoma<\/td>\n<\/tr>\n |
| 300120<\/td> | MAMLD1<\/td> | Hypospadias 2, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 604346<\/td> | MAN1B1<\/td> | Rafiq syndrome<\/td>\n<\/tr>\n |
| 609458<\/td> | MAN2B1<\/td> | Mannosidosis, alpha-, types I and II<\/td>\n<\/tr>\n |
| 154580<\/td> | MAN2C1<\/td> | Congenital disorder of deglycosylation 2<\/td>\n<\/tr>\n |
| 609489<\/td> | MANBA<\/td> | Mannosidosis, beta<\/td>\n<\/tr>\n |
| 601916<\/td> | MANF<\/td> | Diabetes, deafness, developmental delay, and short stature syndrome<\/td>\n<\/tr>\n |
| 309850<\/td> | MAOA<\/td> | Brunner syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 157129<\/td> | MAP1B<\/td> | Deafness 83; Periventricular nodular heterotopia 9<\/td>\n<\/tr>\n |
| 176872<\/td> | MAP2K1<\/td> | Cardiofaciocutaneous syndrome 3; Melorheostosis, isolated, somatic mosaic<\/td>\n<\/tr>\n |
| 601263<\/td> | MAP2K2<\/td> | Cardiofaciocutaneous syndrome 4<\/td>\n<\/tr>\n |
| 600982<\/td> | MAP3K1<\/td> | 46XY sex reversal 6<\/td>\n<\/tr>\n |
| 604655<\/td> | MAP3K14<\/td> | Immunodeficiency 112<\/td>\n<\/tr>\n |
| 609479<\/td> | MAP3K20<\/td> | Centronuclear myopathy 6 with fiber-type disproportion; Split-foot malformation with mesoaxial polydactyly<\/td>\n<\/tr>\n |
| 602614<\/td> | MAP3K7<\/td> | Frontometaphyseal dysplasia 2; Cardiospondylocarpofacial syndrome<\/td>\n<\/tr>\n |
| 191195<\/td> | MAP3K8<\/td> | Lung cancer, somatic<\/td>\n<\/tr>\n |
| 176948<\/td> | MAPK1<\/td> | Noonan syndrome 13<\/td>\n<\/tr>\n |
| 604641<\/td> | MAPK8IP1<\/td> | Diabetes mellitus, noninsulin-dependent<\/td>\n<\/tr>\n |
| 605431<\/td> | MAPK8IP3<\/td> | Neurodevelopmental disorder with or without variable brain abnormalities<\/td>\n<\/tr>\n |
| 602130<\/td> | MAPKAPK3<\/td> | Macular dystrophy, patterned, 3<\/td>\n<\/tr>\n |
| 606723<\/td> | MAPKAPK5<\/td> | Neurocardiofaciodigital syndrome<\/td>\n<\/tr>\n |
| 616786<\/td> | MAPKBP1<\/td> | Nephronophthisis 20<\/td>\n<\/tr>\n |
| 605789<\/td> | MAPRE2<\/td> | Symmetric circumferential skin creases, congenital, 2<\/td>\n<\/tr>\n |
| 157140<\/td> | MAPT<\/td> | Supranuclear palsy, progressive; Frontotemporal dementia 1, with or without parkinsonism; Supranuclear palsy, progressive atypical; Parkinson disease, susceptibility to, Multifactorial; Pick disease<\/td>\n<\/tr>\n |
| 613297<\/td> | MARCHF6<\/td> | Epilepsy, familial adult myoclonic, 3<\/td>\n<\/tr>\n |
| 602678<\/td> | MARK3<\/td> | Visual impairment and progressive phthisis bulbi<\/td>\n<\/tr>\n |
| 156560<\/td> | MARS1<\/td> | Spastic paraplegia 70; Interstitial lung and liver disease; Trichothiodystrophy 9, nonphotosensitive; Charcot-Marie-Tooth disease, axonal, type 2U<\/td>\n<\/tr>\n |
| 609728<\/td> | MARS2<\/td> | Combined oxidative phosphorylation deficiency 25; Spastic ataxia 3<\/td>\n<\/tr>\n |
| 610572<\/td> | MARVELD2<\/td> | Deafness 49<\/td>\n<\/tr>\n |
| 600521<\/td> | MASP1<\/td> | 3MC syndrome 1<\/td>\n<\/tr>\n |
| 605102<\/td> | MASP2<\/td> | MASP2 deficiency<\/td>\n<\/tr>\n |
| 612256<\/td> | MAST1<\/td> | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations<\/td>\n<\/tr>\n |
| 612258<\/td> | MAST3<\/td> | Developmental and epileptic encephalopathy 108<\/td>\n<\/tr>\n |
| 610550<\/td> | MAT1A<\/td> | Hypermethioninemia, persistent, due to methionine adenosyltransferase I\/III deficiency; Methionine adenosyltransferase deficiency<\/td>\n<\/tr>\n |
| 602109<\/td> | MATN3<\/td> | Osteoarthritis susceptibility 2; Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type; Epiphyseal dysplasia, multiple, 5<\/td>\n<\/tr>\n |
| 164015<\/td> | MATR3<\/td> | Amyotrophic lateral sclerosis 21<\/td>\n<\/tr>\n |
| 154950<\/td> | MAX<\/td> | Polydactyly-macrocephaly syndrome; Pheochromocytoma, susceptibility to<\/td>\n<\/tr>\n |
| 160000<\/td> | MB<\/td> | Myopathy, sarcoplasmic body<\/td>\n<\/tr>\n |
| 603574<\/td> | MBD4<\/td> | Uveal melanoma, susceptibility to, 1; Tumor predisposition syndrome 2<\/td>\n<\/tr>\n |
| 611472<\/td> | MBD5<\/td> | Intellectual developmental disorder 1<\/td>\n<\/tr>\n |
| 154545<\/td> | MBL2<\/td> | Chronic infections, due to MBL deficiency<\/td>\n<\/tr>\n |
| 614692<\/td> | MBNP<\/td> | Membranous nephropathy, susceptibility to<\/td>\n<\/tr>\n |
| 606048<\/td> | MBOAT7<\/td> | Intellectual developmental disorder 57<\/td>\n<\/tr>\n |
| 157900<\/td> | MBS1<\/td> | Moebius syndrome, Isolated cases<\/td>\n<\/tr>\n |
| 601471<\/td> | MBS2<\/td> | Facial paresis, hereditary congenital, 1<\/td>\n<\/tr>\n |
| 604185<\/td> | MBS3<\/td> | Facial paresis, hereditary congenital, 2<\/td>\n<\/tr>\n |
| 603355<\/td> | MBTPS1<\/td> | Spondyloepiphyseal dysplasia, Kondo-Fu type<\/td>\n<\/tr>\n |
| 300294<\/td> | MBTPS2<\/td> | Keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive; Osteogenesis imperfecta, type XIX, X-linked recessive; IFAP syndrome with or without BRESHECK syndrome, X-linked recessive; Olmsted syndrome, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 155555<\/td> | MC1R<\/td> | Analgesia from kappa-opioid receptor agonist, female-specific; Skin\/hair\/eye pigmentation 2, red hair\/fair skin; Skin\/hair\/eye pigmentation 2, blond hair\/fair skin; Melanoma, cutaneous malignant, 5; Albinism, oculocutaneous, type II, modifier of; UV-induced skin damage<\/td>\n<\/tr>\n |
| 607397<\/td> | MC2R<\/td> | Glucocorticoid deficiency, due to ACTH unresponsiveness<\/td>\n<\/tr>\n |
| 155540<\/td> | MC3R<\/td> | Obesity, severe, susceptibility to, BMIQ9<\/td>\n<\/tr>\n |
| 155541<\/td> | MC4R<\/td> | Obesity (BMIQ20); Obesity, resistance to (BMIQ20)<\/td>\n<\/tr>\n |
| 614479<\/td> | MCAT<\/td> | Optic atrophy 15<\/td>\n<\/tr>\n |
| 159350<\/td> | MCC<\/td> | Colorectal cancer, somatic<\/td>\n<\/tr>\n |
| 609010<\/td> | MCCC1<\/td> | 3-Methylcrotonyl-CoA carboxylase 1 deficiency<\/td>\n<\/tr>\n |
| 609014<\/td> | MCCC2<\/td> | 3-Methylcrotonyl-CoA carboxylase 2 deficiency<\/td>\n<\/tr>\n |
| 608419<\/td> | MCEE<\/td> | Methylmalonyl-CoA epimerase deficiency<\/td>\n<\/tr>\n |
| 607788<\/td> | MCFD2<\/td> | Factor V and factor VIII, combined deficiency of<\/td>\n<\/tr>\n |
| 608557<\/td> | MCI2<\/td> | Myocardial infarction, susceptibility to, 2<\/td>\n<\/tr>\n |
| 614086<\/td> | MCIDAS<\/td> | Ciliary dyskinesia, primary, 42<\/td>\n<\/tr>\n |
| 609357<\/td> | MCM10<\/td> | Immunodeficiency 80 with or without cardiomyopathy<\/td>\n<\/tr>\n |
| 116945<\/td> | MCM2<\/td> | Deafness 70<\/td>\n<\/tr>\n |
| 603294<\/td> | MCM3AP<\/td> | Peripheral neuropathy, with or without impaired intellectual development<\/td>\n<\/tr>\n |
| 602638<\/td> | MCM4<\/td> | Immunodeficiency 54<\/td>\n<\/tr>\n |
| 602696<\/td> | MCM5<\/td> | Meier-Gorlin syndrome 8<\/td>\n<\/tr>\n |
| 601806<\/td> | MCM6<\/td> | Lactase persistence\/nonpersistence<\/td>\n<\/tr>\n |
| 608187<\/td> | MCM8<\/td> | Premature ovarian failure 10<\/td>\n<\/tr>\n |
| 610098<\/td> | MCM9<\/td> | Ovarian dysgenesis 4<\/td>\n<\/tr>\n |
| 605248<\/td> | MCOLN1<\/td> | Lisch epithelial corneal dystrophy; Mucolipidosis IV<\/td>\n<\/tr>\n |
| 251600<\/td> | MCOP1<\/td> | Microphthalmia, isolated 1<\/td>\n<\/tr>\n |
| 300345<\/td> | MCOPCB1<\/td> | Microphthalmia with coloboma 1<\/td>\n<\/tr>\n |
| 605738<\/td> | MCOPCB2<\/td> | Microphthalmia\/coloboma 2<\/td>\n<\/tr>\n |
| 156850<\/td> | MCOPCT1<\/td> | Microphthalmia with cataract 1<\/td>\n<\/tr>\n |
| 607117<\/td> | MCPH1<\/td> | Microcephaly 1, primary<\/td>\n<\/tr>\n |
| 300587<\/td> | MCTS1<\/td> | Immunodeficiency 118, mycobacteriosis, X-linked recessive<\/td>\n<\/tr>\n |
| 604801<\/td> | MDC1B<\/td> | Muscular dystrophy, congenital, 1B<\/td>\n<\/tr>\n |
| 608520<\/td> | MDD1<\/td> | Major depressive disorder 1<\/td>\n<\/tr>\n |
| 608691<\/td> | MDD2<\/td> | Major depressive disorder 2<\/td>\n<\/tr>\n |
| 614511<\/td> | MDFIC<\/td> | Lymphatic malformation 12<\/td>\n<\/tr>\n |
| 154200<\/td> | MDH1<\/td> | Developmental and epileptic encephalopathy 88<\/td>\n<\/tr>\n |
| 154100<\/td> | MDH2<\/td> | Developmental and epileptic encephalopathy 51<\/td>\n<\/tr>\n |
| 164785<\/td> | MDM2<\/td> | Accelerated tumor formation, susceptibility to; Lessel-Kubisch syndrome<\/td>\n<\/tr>\n |
| 602704<\/td> | MDM4<\/td> | Bone marrow failure syndrome 6<\/td>\n<\/tr>\n |
| 613689<\/td> | MDNS<\/td> | Mammary-digital-nail syndrome<\/td>\n<\/tr>\n |
| 165215<\/td> | MECOM<\/td> | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2<\/td>\n<\/tr>\n |
| 300005<\/td> | MECP2<\/td> | Rett syndrome, atypical, X-linked dominant; Encephalopathy, neonatal severe, X-linked recessive; Intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive; Autism susceptibility, X-linked 3, X-linked; Intellectual developmental disorder, X-linked syndromic 13, X-linked recessive; Rett syndrome, X-linked dominant; Rett syndrome, preserved speech variant, X-linked dominant<\/td>\n<\/tr>\n |
| 608205<\/td> | MECR<\/td> | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Optic atrophy 16<\/td>\n<\/tr>\n |
| 612383<\/td> | MED11<\/td> | Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities<\/td>\n<\/tr>\n |
| 300188<\/td> | MED12<\/td> | Lujan-Fryns syndrome, X-linked recessive; Ohdo syndrome, X-linked, X-linked recessive; Hardikar syndrome, X-linked dominant; Opitz-Kaveggia syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 611318<\/td> | MED12L<\/td> | Nizon-Isidor syndrome<\/td>\n<\/tr>\n |
| 603808<\/td> | MED13<\/td> | Intellectual developmental disorder 61<\/td>\n<\/tr>\n |
| 608771<\/td> | MED13L<\/td> | Impaired intellectual development and distinctive facial features with or without cardiac defects<\/td>\n<\/tr>\n |
| 603810<\/td> | MED17<\/td> | Microcephaly, postnatal progressive, with seizures and brain atrophy<\/td>\n<\/tr>\n |
| 605042<\/td> | MED23<\/td> | Intellectual developmental disorder 18, with or without epilepsy<\/td>\n<\/tr>\n |
| 610197<\/td> | MED25<\/td> | Basel-Vanagait-Smirin-Yosef syndrome<\/td>\n<\/tr>\n |
| 605044<\/td> | MED27<\/td> | Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia<\/td>\n<\/tr>\n |
| 600660<\/td> | MEF2A<\/td> | Coronary artery disease, 1<\/td>\n<\/tr>\n |
| 600662<\/td> | MEF2C<\/td> | Chromosome 5q14.3 deletion syndrome; Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language<\/td>\n<\/tr>\n |
| 608107<\/td> | MEFV<\/td> | Neutrophilic dermatosis, acute febrile; Familial Mediterranean fever, AR; Familial Mediterranean fever, AD<\/td>\n<\/tr>\n |
| 612453<\/td> | MEGF10<\/td> | Congenital myopathy 10A, severe variant; Congenital myopathy 10B, mild variant<\/td>\n<\/tr>\n |
| 604267<\/td> | MEGF8<\/td> | Carpenter syndrome 2<\/td>\n<\/tr>\n |
| 608797<\/td> | MEI1<\/td> | Hydatidiform mole, recurrent, 3<\/td>\n<\/tr>\n |
| 617670<\/td> | MEIOB<\/td> | Premature ovarian failure 23; Spermatogenic failure 22<\/td>\n<\/tr>\n |
| 601740<\/td> | MEIS2<\/td> | Cleft palate, cardiac defects, and impaired intellectual development<\/td>\n<\/tr>\n |
| 613733<\/td> | MEN1<\/td> | Lipoma, somatic; Angiofibroma, somatic; Multiple endocrine neoplasia 1; Carcinoid tumor of lung; Adrenal adenoma, somatic; Parathyroid adenoma, somatic<\/td>\n<\/tr>\n |
| 610873<\/td> | MENAQ1<\/td> | Menarche, age at, QTL<\/td>\n<\/tr>\n |
| 612882<\/td> | MENAQ2<\/td> | Menarche, age at, QTL2<\/td>\n<\/tr>\n |
| 612883<\/td> | MENAQ3<\/td> | Menarche, age at, QTL3<\/td>\n<\/tr>\n |
| 300488<\/td> | MENOQ1<\/td> | Menopause, natural, age at, QTL1, X-linked dominant<\/td>\n<\/tr>\n |
| 612884<\/td> | MENOQ2<\/td> | Menopause, natural, age at, QTL2<\/td>\n<\/tr>\n |
| 612886<\/td> | MENOQ4<\/td> | Menopause, natural, age at, QTL4<\/td>\n<\/tr>\n |
| 600147<\/td> | MEOX1<\/td> | Klippel-Feil syndrome 2<\/td>\n<\/tr>\n |
| 604705<\/td> | MERTK<\/td> | Retinitis pigmentosa 38<\/td>\n<\/tr>\n |
| 607783<\/td> | MESD<\/td> | Osteogenesis imperfecta, type XX<\/td>\n<\/tr>\n |
| 605195<\/td> | MESP2<\/td> | Spondylocostal dysostosis 2<\/td>\n<\/tr>\n |
| 164860<\/td> | MET<\/td> | Renal cell carcinoma, papillary, 1, familial and somatic; Arthrogryposis, distal, type 11; Hepatocellular carcinoma, childhood type, somatic; Osteofibrous dysplasia, susceptibility to; Deafness 97<\/td>\n<\/tr>\n |
| 617987<\/td> | METTL13<\/td> | Deafness 26, modifier of<\/td>\n<\/tr>\n |
| 615262<\/td> | METTL23<\/td> | Intellectual developmental disorder 44<\/td>\n<\/tr>\n |
| 618628<\/td> | METTL5<\/td> | Intellectual developmental disorder 72<\/td>\n<\/tr>\n |
| 601103<\/td> | MFAP5<\/td> | Aortic aneurysm, familial thoracic 9<\/td>\n<\/tr>\n |
| 614785<\/td> | MFF<\/td> | Encephalopathy due to defective mitochondrial and peroxisomal fission 2<\/td>\n<\/tr>\n |
| 605352<\/td> | MFHAS1<\/td> | Malignant fibrous histiocytoma<\/td>\n<\/tr>\n |
| 608507<\/td> | MFN2<\/td> | Lipomatosis, multiple symmetric, with or without peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, type 2A2A; Charcot-Marie-Tooth disease, axonal, type 2A2B; Hereditary motor and sensory neuropathy VIA<\/td>\n<\/tr>\n |
| 606227<\/td> | MFRP<\/td> | Microphthalmia, isolated 5; Nanophthalmos 2<\/td>\n<\/tr>\n |
| 614397<\/td> | MFSD2A<\/td> | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities<\/td>\n<\/tr>\n |
| 611124<\/td> | MFSD8<\/td> | Macular dystrophy with central cone involvement; Ceroid lipofuscinosis, neuronal, 7<\/td>\n<\/tr>\n |
| 612099<\/td> | MFT2<\/td> | Trichoepithelioma, multiple familial, 2<\/td>\n<\/tr>\n |
| 602616<\/td> | MGAT2<\/td> | Congenital disorder of glycosylation, type IIa<\/td>\n<\/tr>\n |
| 615076<\/td> | MGME1<\/td> | Mitochondrial DNA depletion syndrome 11<\/td>\n<\/tr>\n |
| 154870<\/td> | MGP<\/td> | Keutel syndrome<\/td>\n<\/tr>\n |
| 157300<\/td> | MGR1<\/td> | Migraine with or without aura, susceptibility to, 1<\/td>\n<\/tr>\n |
| 610208<\/td> | MGR10<\/td> | Migraine with or without aura, susceptibility to, 10<\/td>\n<\/tr>\n |
| 610209<\/td> | MGR11<\/td> | Migraine with or without aura, susceptibility to, 11<\/td>\n<\/tr>\n |
| 611706<\/td> | MGR12<\/td> | Migraine, with or without aura, susceptibility to, 12<\/td>\n<\/tr>\n |
| 300125<\/td> | MGR2<\/td> | Migraine, familial typical, susceptibility to, 2, X-linked<\/td>\n<\/tr>\n |
| 607498<\/td> | MGR3<\/td> | Migraine with or without aura, susceptibility to, 3<\/td>\n<\/tr>\n |
| 607501<\/td> | MGR4<\/td> | Migraine without aura, susceptibility to, 4<\/td>\n<\/tr>\n |
| 607508<\/td> | MGR5<\/td> | Migraine with or without aura, susceptibility to, 5<\/td>\n<\/tr>\n |
| 607516<\/td> | MGR6<\/td> | Migraine with or without aura, susceptibility to, 6; Migraine, familial hemiplegic, 4<\/td>\n<\/tr>\n |
| 609179<\/td> | MGR7<\/td> | Migraine with aura, susceptibility to, 7<\/td>\n<\/tr>\n |
| 609570<\/td> | MGR8<\/td> | Migraine, susceptibility to, 8<\/td>\n<\/tr>\n |
| 609670<\/td> | MGR9<\/td> | Migraine with aura, susceptibility to, 9<\/td>\n<\/tr>\n |
| 154275<\/td> | MHS2<\/td> | Malignant hyperthermia susceptibility 2<\/td>\n<\/tr>\n |
| 154276<\/td> | MHS3<\/td> | Malignant hyperthermia susceptibility 3<\/td>\n<\/tr>\n |
| 600467<\/td> | MHS4<\/td> | Malignant hyperthermia susceptibility 4<\/td>\n<\/tr>\n |
| 601888<\/td> | MHS6<\/td> | Malignant hyperthermia susceptibility 6<\/td>\n<\/tr>\n |
| 603663<\/td> | MHW1<\/td> | Mental health wellness-1<\/td>\n<\/tr>\n |
| 603664<\/td> | MHW2<\/td> | Mental health wellness-2<\/td>\n<\/tr>\n |
| 613455<\/td> | MIA3<\/td> | Ondontochondrodysplasia 2 with hearing loss and diabetes<\/td>\n<\/tr>\n |
| 611082<\/td> | MIAT<\/td> | Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 608677<\/td> | MIB1<\/td> | Left ventricular noncompaction 7<\/td>\n<\/tr>\n |
| 616658<\/td> | MICOS13<\/td> | Combined oxidative phosphorylation deficiency 37<\/td>\n<\/tr>\n |
| 605084<\/td> | MICU1<\/td> | Myopathy with extrapyramidal signs<\/td>\n<\/tr>\n |
| 300552<\/td> | MID1<\/td> | Opitz GBBB syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 300204<\/td> | MID2<\/td> | Intellectual developmental disorder, X-linked 101, X-linked recessive<\/td>\n<\/tr>\n |
| 615497<\/td> | MIEF1<\/td> | Optic atrophy 14<\/td>\n<\/tr>\n |
| 615498<\/td> | MIEF2<\/td> | Combined oxidative phosphorylation deficiency 49<\/td>\n<\/tr>\n |
| 153620<\/td> | MIF<\/td> | Rheumatoid arthritis, systemic juvenile, susceptibility to<\/td>\n<\/tr>\n |
| 620215<\/td> | MINAR2<\/td> | Deafness 120<\/td>\n<\/tr>\n |
| 605391<\/td> | MINPP1<\/td> | Thyroid carcinoma, follicular, Somatic mutation; Pontocerebellar hypoplasia, type 16<\/td>\n<\/tr>\n |
| 154050<\/td> | MIP<\/td> | Cataract 15, multiple types<\/td>\n<\/tr>\n |
| 602241<\/td> | MIPEP<\/td> | Combined oxidative phosphorylation deficiency 31<\/td>\n<\/tr>\n |
| 611894<\/td> | MIR140<\/td> | Spondyloepiphyseal dysplasia, Nishimura type<\/td>\n<\/tr>\n |
| 613146<\/td> | MIR184<\/td> | EDICT syndrome<\/td>\n<\/tr>\n |
| 610942<\/td> | MIR204<\/td> | Retinal dystrophy and iris coloboma with or without cataract<\/td>\n<\/tr>\n |
| 613405<\/td> | MIR2861<\/td> | Bone mineral density QTL 15<\/td>\n<\/tr>\n |
| 611606<\/td> | MIR96<\/td> | Deafness 50<\/td>\n<\/tr>\n |
| 156845<\/td> | MITF<\/td> | Waardenburg syndrome, type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Tietz albinism-deafness syndrome; COMMAD syndrome<\/td>\n<\/tr>\n |
| 604896<\/td> | MKKS<\/td> | McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6<\/td>\n<\/tr>\n |
| 603856<\/td> | MKRN3<\/td> | Precocious puberty, central, 2<\/td>\n<\/tr>\n |
| 609883<\/td> | MKS1<\/td> | Bardet-Biedl syndrome 13; Meckel syndrome 1; Joubert syndrome 28<\/td>\n<\/tr>\n |
| 605908<\/td> | MLC1<\/td> | Megalencephalic leukoencephalopathy with subcortical cysts 1<\/td>\n<\/tr>\n |
| 120436<\/td> | MLH1<\/td> | Lynch syndrome 2; Muir-Torre syndrome; Mismatch repair cancer syndrome 1<\/td>\n<\/tr>\n |
| 604395<\/td> | MLH3<\/td> | Endometrial cancer, susceptibility to, Somatic mutation; Colorectal cancer, somatic; Colorectal cancer, hereditary nonpolyposis, type 7<\/td>\n<\/tr>\n |
| 614106<\/td> | MLIP<\/td> | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis<\/td>\n<\/tr>\n |
| 602409<\/td> | MLLT10<\/td> | Leukemia, acute myeloid, Somatic mutation<\/td>\n<\/tr>\n |
| 606526<\/td> | MLPH<\/td> | Griscelli syndrome, type 3<\/td>\n<\/tr>\n |
| 606761<\/td> | MLYCD<\/td> | Malonyl-CoA decarboxylase deficiency<\/td>\n<\/tr>\n |
| 607481<\/td> | MMAA<\/td> | Methylmalonic aciduria, vitamin B12-responsive, cblA type<\/td>\n<\/tr>\n |
| 607568<\/td> | MMAB<\/td> | Methylmalonic aciduria, vitamin B12-responsive, cblB type<\/td>\n<\/tr>\n |
| 609831<\/td> | MMACHC<\/td> | Methylmalonic aciduria and homocystinuria, cblC type<\/td>\n<\/tr>\n |
| 611935<\/td> | MMADHC<\/td> | Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type; Homocystinuria-megaloblastic anemia, cblD type<\/td>\n<\/tr>\n |
| 613318<\/td> | MMD2<\/td> | Miyoshi muscular dystrophy 2<\/td>\n<\/tr>\n |
| 120520<\/td> | MME<\/td> | Spinocerebellar ataxia 43; Charcot-Marie-Tooth disease, axonal, type 2T<\/td>\n<\/tr>\n |
| 600108<\/td> | MMP13<\/td> | Spondyloepimetaphyseal dysplasia, Missouri type; Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type<\/td>\n<\/tr>\n |
| 600754<\/td> | MMP14<\/td> | Winchester syndrome<\/td>\n<\/tr>\n |
| 601807<\/td> | MMP19<\/td> | Cavitary optic disc anomalies<\/td>\n<\/tr>\n |
| 120360<\/td> | MMP2<\/td> | Multicentric osteolysis, nodulosis, and arthropathy<\/td>\n<\/tr>\n |
| 604629<\/td> | MMP20<\/td> | Amelogenesis imperfecta, type IIA2<\/td>\n<\/tr>\n |
| 608416<\/td> | MMP21<\/td> | Heterotaxy, visceral, 7, autosomal<\/td>\n<\/tr>\n |
| 185250<\/td> | MMP3<\/td> | Coronary heart disease, susceptibility to, 6<\/td>\n<\/tr>\n |
| 120361<\/td> | MMP9<\/td> | Metaphyseal anadysplasia 2<\/td>\n<\/tr>\n |
| 609058<\/td> | MMUT<\/td> | Methylmalonic aciduria, mut(0) type<\/td>\n<\/tr>\n |
| 157700<\/td> | MMVP1<\/td> | Mitral valve prolapse, myxomatous 1<\/td>\n<\/tr>\n |
| 156100<\/td> | MN1<\/td> | CEBALID syndrome; Meningioma<\/td>\n<\/tr>\n |
| 611863<\/td> | MNDEC<\/td> | Microtia with nasolacrimal duct imperforation and eye coloboma<\/td>\n<\/tr>\n |
| 300273<\/td> | MNG2<\/td> | Goiter, multinodular, 2, X-linked dominant<\/td>\n<\/tr>\n |
| 606082<\/td> | MNG3<\/td> | Goiter, multinodular, 3<\/td>\n<\/tr>\n |
| 606190<\/td> | MNRI<\/td> | Meningioma, radiation-induced<\/td>\n<\/tr>\n |
| 610766<\/td> | MNS1<\/td> | Heterotaxy, visceral, 9, autosomal, with male infertility<\/td>\n<\/tr>\n |
| 142994<\/td> | MNX1<\/td> | Currarino syndrome<\/td>\n<\/tr>\n |
| 613274<\/td> | MOCOS<\/td> | Xanthinuria, type II<\/td>\n<\/tr>\n |
| 603707<\/td> | MOCS1<\/td> | Molybdenum cofactor deficiency A<\/td>\n<\/tr>\n |
| 603708<\/td> | MOCS2<\/td> | Molybdenum cofactor deficiency B<\/td>\n<\/tr>\n |
| 159465<\/td> | MOG<\/td> | Narcolepsy 7<\/td>\n<\/tr>\n |
| 601336<\/td> | MOGS<\/td> | Congenital disorder of glycosylation, type IIb<\/td>\n<\/tr>\n |
| 616661<\/td> | MORC2<\/td> | Charcot-Marie-Tooth disease, axonal, type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy<\/td>\n<\/tr>\n |
| 190060<\/td> | MOS<\/td> | Oocyte\/zygote\/embryo maturation arrest 20<\/td>\n<\/tr>\n |
| 605794<\/td> | MOV10L1<\/td> | Spermatogenic failure 73<\/td>\n<\/tr>\n |
| 614738<\/td> | MPC1<\/td> | Mitochondrial pyruvate carrier deficiency<\/td>\n<\/tr>\n |
| 604041<\/td> | MPDU1<\/td> | Congenital disorder of glycosylation, type If<\/td>\n<\/tr>\n |
| 603785<\/td> | MPDZ<\/td> | Hydrocephalus, congenital, 2, with or without brain or eye anomalies<\/td>\n<\/tr>\n |
| 610390<\/td> | MPEG1<\/td> | Immunodeficiency 77<\/td>\n<\/tr>\n |
| 154550<\/td> | MPI<\/td> | Congenital disorder of glycosylation, type Ib<\/td>\n<\/tr>\n |
| 606520<\/td> | MPIG6B<\/td> | Thrombocytopenia, anemia, and myelofibrosis<\/td>\n<\/tr>\n |
| 159530<\/td> | MPL<\/td> | Myelofibrosis with myeloid metaplasia, somatic; Amegakaryocytic thrombocytopenia, congenital, 1; Thrombocythemia 2, Somatic mutation<\/td>\n<\/tr>\n |
| 609188<\/td> | MPLKIP<\/td> | Trichothiodystrophy 4, nonphotosensitive<\/td>\n<\/tr>\n |
| 606989<\/td> | MPO<\/td> | Alzheimer disease, susceptibility to; Myeloperoxidase deficiency; Lung cancer, protection against, in smokers<\/td>\n<\/tr>\n |
| 137960<\/td> | MPV17<\/td> | Charcot-Marie-Tooth disease, axonal, type 2EE; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)<\/td>\n<\/tr>\n |
| 612573<\/td> | MPVQTL1<\/td> | Mean platelet volume QTL1<\/td>\n<\/tr>\n |
| 612574<\/td> | MPVQTL2<\/td> | Mean platelet volume QTL2<\/td>\n<\/tr>\n |
| 612575<\/td> | MPVQTL3<\/td> | Mean platelet volume QTL3<\/td>\n<\/tr>\n |
| 614644<\/td> | MPVQTL4<\/td> | Mean platelet volume QTL4<\/td>\n<\/tr>\n |
| 614645<\/td> | MPVQTL5<\/td> | Mean platelet volume QTL5<\/td>\n<\/tr>\n |
| 614646<\/td> | MPVQTL6<\/td> | Mean platelet volume QTL6<\/td>\n<\/tr>\n |
| 159440<\/td> | MPZ<\/td> | Charcot-Marie-Tooth disease, type 2I; Dejerine-Sottas disease; Charcot-Marie-Tooth disease, type 1B; Roussy-Levy syndrome; Charcot-Marie-Tooth disease, dominant intermediate D; Hypomyelinating neuropathy, congenital, 2; Charcot-Marie-Tooth disease, type 2J<\/td>\n<\/tr>\n |
| 604873<\/td> | MPZL2<\/td> | Deafness 111<\/td>\n<\/tr>\n |
| 609196<\/td> | MRAP<\/td> | Glucocorticoid deficiency 2<\/td>\n<\/tr>\n |
| 615410<\/td> | MRAP2<\/td> | Obesity, susceptibility to, BMIQ18<\/td>\n<\/tr>\n |
| 608435<\/td> | MRAS<\/td> | Noonan syndrome 11<\/td>\n<\/tr>\n |
| 612581<\/td> | MRD4<\/td> | Intellectual developmental disorder 4<\/td>\n<\/tr>\n |
| 600814<\/td> | MRE11<\/td> | Ataxia-telangiectasia-like disorder 1<\/td>\n<\/tr>\n |
| 606906<\/td> | MRM2<\/td> | Mitochondrial DNA depletion syndrome 17<\/td>\n<\/tr>\n |
| 155900<\/td> | MROS<\/td> | Melkersson-Rosenthal syndrome<\/td>\n<\/tr>\n |
| 602375<\/td> | MRPL12<\/td> | Combined oxidative phosphorylation deficiency 45<\/td>\n<\/tr>\n |
| 607118<\/td> | MRPL3<\/td> | Combined oxidative phosphorylation deficiency 9<\/td>\n<\/tr>\n |
| 611845<\/td> | MRPL39<\/td> | Combined oxidative phosphorylation deficiency 59<\/td>\n<\/tr>\n |
| 611849<\/td> | MRPL44<\/td> | Combined oxidative phosphorylation deficiency 16<\/td>\n<\/tr>\n |
| 611978<\/td> | MRPS14<\/td> | Combined oxidative phosphorylation deficiency 38<\/td>\n<\/tr>\n |
| 609204<\/td> | MRPS16<\/td> | Combined oxidative phosphorylation deficiency 2<\/td>\n<\/tr>\n |
| 611971<\/td> | MRPS2<\/td> | Combined oxidative phosphorylation deficiency 36<\/td>\n<\/tr>\n |
| 605810<\/td> | MRPS22<\/td> | Ovarian dysgenesis 7; Combined oxidative phosphorylation deficiency 5<\/td>\n<\/tr>\n |
| 611985<\/td> | MRPS23<\/td> | Combined oxidative phosphorylation deficiency 46<\/td>\n<\/tr>\n |
| 611987<\/td> | MRPS25<\/td> | Combined oxidative phosphorylation deficiency 50<\/td>\n<\/tr>\n |
| 611990<\/td> | MRPS28<\/td> | Combined oxidative phosphorylation deficiency 47<\/td>\n<\/tr>\n |
| 611994<\/td> | MRPS34<\/td> | Combined oxidative phosphorylation deficiency 32<\/td>\n<\/tr>\n |
| 611974<\/td> | MRPS7<\/td> | Combined oxidative phosphorylation deficiency 34<\/td>\n<\/tr>\n |
| 309620<\/td> | MRSD<\/td> | Intellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy, X-linked<\/td>\n<\/tr>\n |
| 602685<\/td> | MRST<\/td> | Impaired intellectual development with spasticity and tapetoretinal degeneration<\/td>\n<\/tr>\n |
| 611096<\/td> | MRT10<\/td> | Intellectual developmental disorder 10\/20<\/td>\n<\/tr>\n |
| 611097<\/td> | MRT11<\/td> | Intellectual developmental disorder 11<\/td>\n<\/tr>\n |
| 614208<\/td> | MRT16<\/td> | Intellectual developmental disorder 16<\/td>\n<\/tr>\n |
| 614343<\/td> | MRT19<\/td> | Intellectual developmental disorder 19<\/td>\n<\/tr>\n |
| 614344<\/td> | MRT23<\/td> | Intellectual developmental disorder 23<\/td>\n<\/tr>\n |
| 614345<\/td> | MRT24<\/td> | Intellectual developmental disorder 24<\/td>\n<\/tr>\n |
| 614346<\/td> | MRT25<\/td> | Intellectual developmental disorder 25<\/td>\n<\/tr>\n |
| 614347<\/td> | MRT28<\/td> | Intellectual developmental disorder 28<\/td>\n<\/tr>\n |
| 614333<\/td> | MRT29<\/td> | Intellectual developmental disorder 29<\/td>\n<\/tr>\n |
| 614342<\/td> | MRT30<\/td> | Intellectual developmental disorder 30<\/td>\n<\/tr>\n |
| 614329<\/td> | MRT31<\/td> | Intellectual developmental disorder 31<\/td>\n<\/tr>\n |
| 614341<\/td> | MRT33<\/td> | Intellectual developmental disorder 33<\/td>\n<\/tr>\n |
| 615162<\/td> | MRT35<\/td> | Intellectual developmental disorder 35<\/td>\n<\/tr>\n |
| 611107<\/td> | MRT4<\/td> | Intellectual developmental disorder 4<\/td>\n<\/tr>\n |
| 611095<\/td> | MRT9<\/td> | Intellectual developmental disorder 9\/26<\/td>\n<\/tr>\n |
| 606078<\/td> | MRTFA<\/td> | Immunodeficiency 66<\/td>\n<\/tr>\n |
| 300062<\/td> | MRX14<\/td> | Intellectual developmental disorder, X-linked 14, X-linked<\/td>\n<\/tr>\n |
| 300047<\/td> | MRX20<\/td> | Intellectual developmental disorder, X-linked 20, X-linked<\/td>\n<\/tr>\n |
| 300046<\/td> | MRX23<\/td> | Intellectual developmental disorder, X-linked 23, X-linked<\/td>\n<\/tr>\n |
| 300372<\/td> | MRX42<\/td> | Intellectual developmental disorder, X-linked 42<\/td>\n<\/tr>\n |
| 300324<\/td> | MRX53<\/td> | Intellectual developmental disorder, X-linked 53, X-linked recessive<\/td>\n<\/tr>\n |
| 300355<\/td> | MRX73<\/td> | Intellectual developmental disorder, X-linked 73, X-linked recessive<\/td>\n<\/tr>\n |
| 300454<\/td> | MRX77<\/td> | Intellectual developmental disorder, X-linked 77, X-linked recessive<\/td>\n<\/tr>\n |
| 300433<\/td> | MRX81<\/td> | Intellectual developmental disorder, X-linked 81, X-linked recessive<\/td>\n<\/tr>\n |
| 300518<\/td> | MRX82<\/td> | Intellectual developmental disorder, X-linked 82, X-linked recessive<\/td>\n<\/tr>\n |
| 300505<\/td> | MRX84<\/td> | Intellectual developmental disorder, X-linked 84, X-linked recessive<\/td>\n<\/tr>\n |
| 300852<\/td> | MRX88<\/td> | Intellectual developmental disorder, X-linked 88, X-linked<\/td>\n<\/tr>\n |
| 300851<\/td> | MRX92<\/td> | Intellectual developmental disorder, X-linked 92, X-linked recessive<\/td>\n<\/tr>\n |
| 300716<\/td> | MRX95<\/td> | Intellectual developmental disorder, X-linked 95, X-linked dominant<\/td>\n<\/tr>\n |
| 309545<\/td> | MRXS12<\/td> | Intellectual developmental disorder, X-linked syndromic 12, X-linked<\/td>\n<\/tr>\n |
| 300858<\/td> | MRXS17<\/td> | Intellectual developmental disorder, X-linked syndromic 17, X-linked recessive<\/td>\n<\/tr>\n |
| 300886<\/td> | MRXS32<\/td> | Intellectual developmental disorder, X-linked, syndromic 32, X-linked recessive<\/td>\n<\/tr>\n |
| 300218<\/td> | MRXS7<\/td> | Intellectual developmental disorder, X-linked syndromic 7, X-linked<\/td>\n<\/tr>\n |
| 300262<\/td> | MRXSAB<\/td> | Intellectual developmental disorder, X-linked syndromic, Abidi type, X-linked<\/td>\n<\/tr>\n |
| 300861<\/td> | MRXSCS<\/td> | Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type, X-linked recessive<\/td>\n<\/tr>\n |
| 300519<\/td> | MRXSMP<\/td> | Martin-Probst syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 612594<\/td> | MS2<\/td> | Multiple sclerosis, susceptibility to, 2<\/td>\n<\/tr>\n |
| 612595<\/td> | MS3<\/td> | Multiple sclerosis, susceptibility to, 3<\/td>\n<\/tr>\n |
| 612596<\/td> | MS4<\/td> | Multiple sclerosis, susceptibility to, 4<\/td>\n<\/tr>\n |
| 112210<\/td> | MS4A1<\/td> | Immunodeficiency, common variable, 5<\/td>\n<\/tr>\n |
| 609309<\/td> | MSH2<\/td> | Lynch syndrome 1; Muir-Torre syndrome; Mismatch repair cancer syndrome 2<\/td>\n<\/tr>\n |
| 600887<\/td> | MSH3<\/td> | Familial adenomatous polyposis 4; Endometrial carcinoma, somatic<\/td>\n<\/tr>\n |
| 602105<\/td> | MSH4<\/td> | Premature ovarian failure 20; Spermatogenic failure 2<\/td>\n<\/tr>\n |
| 603382<\/td> | MSH5<\/td> | Premature ovarian failure 13; Spermatogenic failure 74<\/td>\n<\/tr>\n |
| 600678<\/td> | MSH6<\/td> | Lynch syndrome 5; Mismatch repair cancer syndrome 3; Endometrial cancer, familial, Somatic mutation<\/td>\n<\/tr>\n |
| 300609<\/td> | MSL3<\/td> | Basilicata-Akhtar syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 157145<\/td> | MSMB<\/td> | Prostate cancer, hereditary, 13<\/td>\n<\/tr>\n |
| 607545<\/td> | MSMO1<\/td> | Microcephaly, congenital cataract, and psoriasiform dermatitis<\/td>\n<\/tr>\n |
| 309845<\/td> | MSN<\/td> | Immunodeficiency 50, X-linked recessive<\/td>\n<\/tr>\n |
| 153622<\/td> | MSR1<\/td> | Barrett esophagus\/esophageal adenocarcinoma<\/td>\n<\/tr>\n |
| 613719<\/td> | MSRB3<\/td> | Deafness 74<\/td>\n<\/tr>\n |
| 600168<\/td> | MST1R<\/td> | Nasopharyngeal carcinoma, susceptibility to, 3<\/td>\n<\/tr>\n |
| 601788<\/td> | MSTN<\/td> | Muscle hypertrophy<\/td>\n<\/tr>\n |
| 617619<\/td> | MSTO1<\/td> | Myopathy, mitochondrial, and ataxia<\/td>\n<\/tr>\n |
| 142983<\/td> | MSX1<\/td> | Tooth agenesis, selective, 1, with or without orofacial cleft; Ectodermal dysplasia 3, Witkop type; Orofacial cleft 5<\/td>\n<\/tr>\n |
| 123101<\/td> | MSX2<\/td> | Parietal foramina with cleidocranial dysplasia; Craniosynostosis 2; Parietal foramina 1<\/td>\n<\/tr>\n |
| 156540<\/td> | MTAP<\/td> | Diaphyseal medullary stenosis with malignant fibrous histiocytoma<\/td>\n<\/tr>\n |
| 607949<\/td> | MTBS1<\/td> | Tuberculosis, susceptibility to<\/td>\n<\/tr>\n |
| 611046<\/td> | MTBS2<\/td> | Mycobacterium tuberculosis, susceptibility to, 2<\/td>\n<\/tr>\n |
| 612929<\/td> | MTBS3<\/td> | Mycobacterium tuberculosis, susceptibility to, 3<\/td>\n<\/tr>\n |
| 300259<\/td> | MTBSX<\/td> | Mycobacterium tuberculosis, susceptibility, X-linked<\/td>\n<\/tr>\n |
| 611766<\/td> | MTFMT<\/td> | Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27<\/td>\n<\/tr>\n |
| 172460<\/td> | MTHFD1<\/td> | Neural tube defects, folate-sensitive, susceptibility to; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia<\/td>\n<\/tr>\n |
| 607093<\/td> | MTHFR<\/td> | Vascular disease, susceptibility to; Homocystinuria due to MTHFR deficiency; Thromboembolism, susceptibility to; Schizophrenia, susceptibility to; Neural tube defects, susceptibility to<\/td>\n<\/tr>\n |
| 604197<\/td> | MTHFS<\/td> | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination<\/td>\n<\/tr>\n |
| 300415<\/td> | MTM1<\/td> | Myopathy, centronuclear, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 611089<\/td> | MTMR14<\/td> | Centronuclear myopathy, autosomal, modifier of<\/td>\n<\/tr>\n |
| 603557<\/td> | MTMR2<\/td> | Charcot-Marie-Tooth disease, type 4B1<\/td>\n<\/tr>\n |
| 600804<\/td> | MTNR1B<\/td> | Diabetes mellitus, type 2, susceptibility to<\/td>\n<\/tr>\n |
| 614667<\/td> | MTO1<\/td> | Combined oxidative phosphorylation deficiency 10<\/td>\n<\/tr>\n |
| 601231<\/td> | MTOR<\/td> | Focal cortical dysplasia, type II, somatic; Smith-Kingsmore syndrome<\/td>\n<\/tr>\n |
| 613669<\/td> | MTPAP<\/td> | Spastic ataxia 4<\/td>\n<\/tr>\n |
| 156570<\/td> | MTR<\/td> | Neural tube defects, folate-sensitive, susceptibility to; Homocystinuria-megaloblastic anemia, cblG complementation type<\/td>\n<\/tr>\n |
| 613541<\/td> | MTRFR<\/td> | Spastic paraplegia 55; Combined oxidative phosphorylation deficiency 7<\/td>\n<\/tr>\n |
| 602568<\/td> | MTRR<\/td> | Homocystinuria-megaloblastic anemia, cbl E type; Neural tube defects, folate-sensitive, susceptibility to<\/td>\n<\/tr>\n |
| 616951<\/td> | MTSS2<\/td> | Intellectual developmental disorder with ocular anomalies and distinctive facial features<\/td>\n<\/tr>\n |
| 157147<\/td> | MTTP<\/td> | Abetalipoproteinemia<\/td>\n<\/tr>\n |
| 608555<\/td> | MTX2<\/td> | Mandibuloacral dysplasia progeroid syndrome<\/td>\n<\/tr>\n |
| 158340<\/td> | MUC1<\/td> | Tubulointerstitial kidney disease, 2<\/td>\n<\/tr>\n |
| 600770<\/td> | MUC5B<\/td> | Pulmonary fibrosis, idiopathic, susceptibility to<\/td>\n<\/tr>\n |
| 158375<\/td> | MUC7<\/td> | Asthma, protection against<\/td>\n<\/tr>\n |
| 601296<\/td> | MUSK<\/td> | Fetal akinesia deformation sequence 1; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency<\/td>\n<\/tr>\n |
| 612343<\/td> | MUSQTL1<\/td> | Musical aptitude QTL 1<\/td>\n<\/tr>\n |
| 612083<\/td> | MUSTQTL1<\/td> | Muscle strength quantitative trait locus 1<\/td>\n<\/tr>\n |
| 604933<\/td> | MUTYH<\/td> | Adenomas, multiple colorectal; Gastric cancer, somatic<\/td>\n<\/tr>\n |
| 612635<\/td> | MVCD7<\/td> | Microvascular complications of diabetes, susceptibility to, 7<\/td>\n<\/tr>\n |
| 603236<\/td> | MVD<\/td> | Porokeratosis 7, multiple types<\/td>\n<\/tr>\n |
| 251170<\/td> | MVK<\/td> | Hyper-IgD syndrome; Porokeratosis 3, multiple types; Mevalonic aciduria<\/td>\n<\/tr>\n |
| 600020<\/td> | MXI1<\/td> | Prostate cancer, somatic; Neurofibrosarcoma, somatic<\/td>\n<\/tr>\n |
| 607085<\/td> | MYAS1<\/td> | Myasthenia gravis with thymus hyperplasia<\/td>\n<\/tr>\n |
| 189990<\/td> | MYB<\/td> | T-cell acute lymphoblastic leukemia<\/td>\n<\/tr>\n |
| 160794<\/td> | MYBPC1<\/td> | Congenital myopathy 16; Lethal congenital contracture syndrome 4; Arthrogryposis, distal, type 1B<\/td>\n<\/tr>\n |
| 600958<\/td> | MYBPC3<\/td> | Cardiomyopathy, hypertrophic, 4; Cardiomyopathy, dilated, 1MM; Left ventricular noncompaction 10<\/td>\n<\/tr>\n |
| 190080<\/td> | MYC<\/td> | Burkitt lymphoma, somatic<\/td>\n<\/tr>\n |
| 164840<\/td> | MYCN<\/td> | Feingold syndrome 1; Megalencephaly-polydactyly syndrome<\/td>\n<\/tr>\n |
| 602170<\/td> | MYD88<\/td> | Macroglobulinemia, Waldenstrom, somatic; Immunodeficiency 68<\/td>\n<\/tr>\n |
| 159990<\/td> | MYF5<\/td> | Ophthalmoplegia, external, with rib and vertebral anomalies<\/td>\n<\/tr>\n |
| 160745<\/td> | MYH11<\/td> | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2; Aortic aneurysm, familial thoracic 4; Visceral myopathy 2<\/td>\n<\/tr>\n |
| 608568<\/td> | MYH14<\/td> | Peripheral neuropathy, myopathy, hoarseness, and hearing loss; Deafness 4A<\/td>\n<\/tr>\n |
| 160740<\/td> | MYH2<\/td> | Congenital myopathy 6 with ophthalmoplegia<\/td>\n<\/tr>\n |
| 160720<\/td> | MYH3<\/td> | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B; Arthrogryposis, distal, type 2B3 (Sheldon-Hall); Arthrogryposis, distal, type 2A (Freeman-Sheldon)<\/td>\n<\/tr>\n |
| 160710<\/td> | MYH6<\/td> | Sick sinus syndrome 3; Atrial septal defect 3; Cardiomyopathy, dilated, 1EE; Cardiomyopathy, hypertrophic, 14<\/td>\n<\/tr>\n |
| 160760<\/td> | MYH7<\/td> | Laing distal myopathy; Cardiomyopathy, hypertrophic, 1, Digenic dominant; Left ventricular noncompaction 5; Cardiomyopathy, dilated, 1S; Congenital myopathy 7B, myosin storage; Congenital myopathy 7A, myosin storage<\/td>\n<\/tr>\n |
| 160741<\/td> | MYH8<\/td> | Carney complex variant; Trismus-pseudocamptodactyly syndrome<\/td>\n<\/tr>\n |
| 160775<\/td> | MYH9<\/td> | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness 17<\/td>\n<\/tr>\n |
| 160780<\/td> | MYL1<\/td> | Congenital myopathy 14<\/td>\n<\/tr>\n |
| 617378<\/td> | MYL11<\/td> | Arthrogryposis, distal, type 1C<\/td>\n<\/tr>\n |
| 160781<\/td> | MYL2<\/td> | Cardiomyopathy, hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy<\/td>\n<\/tr>\n |
| 160790<\/td> | MYL3<\/td> | Cardiomyopathy, hypertrophic, 8<\/td>\n<\/tr>\n |
| 160770<\/td> | MYL4<\/td> | Atrial fibrillation, familial, 18<\/td>\n<\/tr>\n |
| 609905<\/td> | MYL9<\/td> | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4<\/td>\n<\/tr>\n |
| 600922<\/td> | MYLK<\/td> | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1; Aortic aneurysm, familial thoracic 7<\/td>\n<\/tr>\n |
| 606566<\/td> | MYLK2<\/td> | Cardiomyopathy, hypertrophic, 1, digenic, Digenic dominant<\/td>\n<\/tr>\n |
| 615345<\/td> | MYMK<\/td> | Carey-Fineman-Ziter syndrome<\/td>\n<\/tr>\n |
| 619912<\/td> | MYMX<\/td> | Carey-Fineman-Ziter syndrome 2<\/td>\n<\/tr>\n |
| 252350<\/td> | MYMY1<\/td> | Moyamoya disease<\/td>\n<\/tr>\n |
| 608796<\/td> | MYMY3<\/td> | Moyamoya disease 3<\/td>\n<\/tr>\n |
| 602666<\/td> | MYO15A<\/td> | Deafness 3<\/td>\n<\/tr>\n |
| 607295<\/td> | MYO18B<\/td> | Klippel-Feil syndrome 4, with myopathy and facial dysmorphism<\/td>\n<\/tr>\n |
| 601479<\/td> | MYO1E<\/td> | Glomerulosclerosis, focal segmental, 6<\/td>\n<\/tr>\n |
| 614636<\/td> | MYO1H<\/td> | Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction<\/td>\n<\/tr>\n |
| 606808<\/td> | MYO3A<\/td> | Deafness 30; Deafness 90<\/td>\n<\/tr>\n |
| 160777<\/td> | MYO5A<\/td> | Griscelli syndrome, type 1<\/td>\n<\/tr>\n |
| 606540<\/td> | MYO5B<\/td> | Diarrhea 2, with microvillus atrophy, with or without cholestasis; Cholestasis, progressive familial intrahepatic, 10<\/td>\n<\/tr>\n |
| 600970<\/td> | MYO6<\/td> | Deafness 22, with hypertrophic cardiomyopathy; Deafness 22; Deafness 37<\/td>\n<\/tr>\n |
| 276903<\/td> | MYO7A<\/td> | Deafness 2; Usher syndrome, type 1B; Deafness 11<\/td>\n<\/tr>\n |
| 604875<\/td> | MYO9A<\/td> | Myasthenic syndrome, congenital, 24, presynaptic<\/td>\n<\/tr>\n |
| 601652<\/td> | MYOC<\/td> | Glaucoma 1A, primary open angle<\/td>\n<\/tr>\n |
| 606127<\/td> | MYOCD<\/td> | Megabladder, congenital<\/td>\n<\/tr>\n |
| 159970<\/td> | MYOD1<\/td> | Congenital myopathy 17<\/td>\n<\/tr>\n |
| 604603<\/td> | MYOF<\/td> | Angioedema, hereditary, 7<\/td>\n<\/tr>\n |
| 618255<\/td> | MYORG<\/td> | Basal ganglia calcification, idiopathic, 7<\/td>\n<\/tr>\n |
| 604103<\/td> | MYOT<\/td> | Myopathy, myofibrillar, 3<\/td>\n<\/tr>\n |
| 605602<\/td> | MYOZ2<\/td> | Cardiomyopathy, hypertrophic, 16<\/td>\n<\/tr>\n |
| 310460<\/td> | MYP1<\/td> | Myopia-1, X-linked recessive<\/td>\n<\/tr>\n |
| 609259<\/td> | MYP10<\/td> | Myopia 10, Multifactorial<\/td>\n<\/tr>\n |
| 609994<\/td> | MYP11<\/td> | Myopia 11<\/td>\n<\/tr>\n |
| 609995<\/td> | MYP12<\/td> | Myopia 12<\/td>\n<\/tr>\n |
| 300613<\/td> | MYP13<\/td> | Myopia 13<\/td>\n<\/tr>\n |
| 610320<\/td> | MYP14<\/td> | Myopia 14<\/td>\n<\/tr>\n |
| 612717<\/td> | MYP15<\/td> | Myopia 15<\/td>\n<\/tr>\n |
| 612554<\/td> | MYP16<\/td> | Myopia 16<\/td>\n<\/tr>\n |
| 608367<\/td> | MYP17<\/td> | Myopia 17<\/td>\n<\/tr>\n |
| 255500<\/td> | MYP18<\/td> | Myopia 18<\/td>\n<\/tr>\n |
| 613969<\/td> | MYP19<\/td> | Myopia 19<\/td>\n<\/tr>\n |
| 160700<\/td> | MYP2<\/td> | Myopia 2<\/td>\n<\/tr>\n |
| 614166<\/td> | MYP20<\/td> | Myopia 20<\/td>\n<\/tr>\n |
| 603221<\/td> | MYP3<\/td> | Myopia-3<\/td>\n<\/tr>\n |
| 608474<\/td> | MYP5<\/td> | Myopia 5<\/td>\n<\/tr>\n |
| 609256<\/td> | MYP7<\/td> | Myopia 7, Multifactorial<\/td>\n<\/tr>\n |
| 609257<\/td> | MYP8<\/td> | Myopia 8, Multifactorial<\/td>\n<\/tr>\n |
| 609258<\/td> | MYP9<\/td> | Myopia 9, Multifactorial<\/td>\n<\/tr>\n |
| 608517<\/td> | MYPN<\/td> | Cardiomyopathy, hypertrophic, 22; Congenital myopathy 24; Cardiomyopathy, familial restrictive, 4; Cardiomyopathy, dilated, 1KK<\/td>\n<\/tr>\n |
| 608329<\/td> | MYRF<\/td> | Encephalitis\/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome<\/td>\n<\/tr>\n |
| 612176<\/td> | MYSM1<\/td> | Bone marrow failure syndrome 4<\/td>\n<\/tr>\n |
| 613084<\/td> | MYT1L<\/td> | Intellectual developmental disorder 39<\/td>\n<\/tr>\n |
| 614071<\/td> | MYZAP<\/td> | Cardiomyopathy, dilated, 2K<\/td>\n<\/tr>\n |
| 300013<\/td> | NAA10<\/td> | Microphthalmia, syndromic 1, X-linked; Ogden syndrome, X-linked dominant, X-linked recessive<\/td>\n<\/tr>\n |
| 608000<\/td> | NAA15<\/td> | Intellectual developmental disorder 50, with behavioral abnormalities<\/td>\n<\/tr>\n |
| 610833<\/td> | NAA20<\/td> | Intellectual developmental disorder 73<\/td>\n<\/tr>\n |
| 614246<\/td> | NAA60<\/td> | Basal ganglia calcification, idiopathic, 9<\/td>\n<\/tr>\n |
| 607073<\/td> | NAA80<\/td> | Auroneurodental syndrome<\/td>\n<\/tr>\n |
| 610672<\/td> | NACC1<\/td> | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination<\/td>\n<\/tr>\n |
| 615787<\/td> | NADK2<\/td> | 2,4-dienoyl-CoA reductase deficiency<\/td>\n<\/tr>\n |
| 608285<\/td> | NADSYN1<\/td> | Vertebral, cardiac, renal, and limb defects syndrome 3<\/td>\n<\/tr>\n |
| 603385<\/td> | NAE1<\/td> | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia<\/td>\n<\/tr>\n |
| 617868<\/td> | NAF1<\/td> | Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 7<\/td>\n<\/tr>\n |
| 613282<\/td> | NAFLD1<\/td> | Fatty liver disease, susceptibility to, 1, Multifactorial<\/td>\n<\/tr>\n |
| 613387<\/td> | NAFLD2<\/td> | Fatty liver disease, susceptibility to, 2, Multifactorial<\/td>\n<\/tr>\n |
| 104170<\/td> | NAGA<\/td> | Schindler disease, type I; Kanzaki disease; Schindler disease, type III<\/td>\n<\/tr>\n |
| 609701<\/td> | NAGLU<\/td> | Charcot-Marie-Tooth disease, axonal, type 2V; Mucopolysaccharidosis type IIIB (Sanfilippo B)<\/td>\n<\/tr>\n |
| 608300<\/td> | NAGS<\/td> | N-acetylglutamate synthase deficiency<\/td>\n<\/tr>\n |
| 611549<\/td> | NALCN<\/td> | Congenital contractures of the limbs and face, hypotonia, and developmental delay; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1<\/td>\n<\/tr>\n |
| 608226<\/td> | NANOS1<\/td> | Spermatogenic failure 12<\/td>\n<\/tr>\n |
| 605202<\/td> | NANS<\/td> | Spondyloepimetaphyseal dysplasia, Genevieve type<\/td>\n<\/tr>\n |
| 611270<\/td> | NAPB<\/td> | Developmental and epileptic encephalopathy 107<\/td>\n<\/tr>\n |
| 108410<\/td> | NARS1<\/td> | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities; Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities<\/td>\n<\/tr>\n |
| 612803<\/td> | NARS2<\/td> | Combined oxidative phosphorylation deficiency 24; Deafness 94<\/td>\n<\/tr>\n |
| 612182<\/td> | NAT2<\/td> | Acetylation, slow<\/td>\n<\/tr>\n |
| 610647<\/td> | NAT8L<\/td> | N-acetylaspartate deficiency<\/td>\n<\/tr>\n |
| 615910<\/td> | NAXD<\/td> | Encephalopathy, progressive, early-onset, with brain edema and\/or leukoencephalopathy, 2<\/td>\n<\/tr>\n |
| 608862<\/td> | NAXE<\/td> | Encephalopathy, progressive, early-onset, with brain edema and\/or leukoencephalopathy<\/td>\n<\/tr>\n |
| 608025<\/td> | NBAS<\/td> | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome 2<\/td>\n<\/tr>\n |
| 604889<\/td> | NBEA<\/td> | Neurodevelopmental disorder with or without early-onset generalized epilepsy<\/td>\n<\/tr>\n |
| 614169<\/td> | NBEAL2<\/td> | Gray platelet syndrome<\/td>\n<\/tr>\n |
| 613015<\/td> | NBLST4<\/td> | Neuroblastoma, susceptibility to, 4<\/td>\n<\/tr>\n |
| 613016<\/td> | NBLST5<\/td> | Neuroblastoma, susceptibility to, 5<\/td>\n<\/tr>\n |
| 613017<\/td> | NBLST6<\/td> | Neuroblastoma, susceptibility to, 6<\/td>\n<\/tr>\n |
| 616792<\/td> | NBLST7<\/td> | Neuroblastoma, susceptibility to, 7<\/td>\n<\/tr>\n |
| 602667<\/td> | NBN<\/td> | Leukemia, acute lymphoblastic; Aplastic anemia; Nijmegen breakage syndrome<\/td>\n<\/tr>\n |
| 615638<\/td> | NCAPD2<\/td> | Microcephaly 21, primary<\/td>\n<\/tr>\n |
| 609276<\/td> | NCAPD3<\/td> | Microcephaly 22, primary<\/td>\n<\/tr>\n |
| 608532<\/td> | NCAPG2<\/td> | Khan-Khan-Katsanis syndrome<\/td>\n<\/tr>\n |
| 602332<\/td> | NCAPH<\/td> | Microcephaly 23, primary<\/td>\n<\/tr>\n |
| 608458<\/td> | NCDN<\/td> | Neurodevelopmental disorder with infantile epileptic spasms<\/td>\n<\/tr>\n |
| 608512<\/td> | NCF1<\/td> | Chronic granulomatous disease 1<\/td>\n<\/tr>\n |
| 608515<\/td> | NCF2<\/td> | Chronic granulomatous disease 2<\/td>\n<\/tr>\n |
| 601488<\/td> | NCF4<\/td> | Chronic granulomatous disease 3<\/td>\n<\/tr>\n |
| 141180<\/td> | NCKAP1L<\/td> | Immunodeficiency 72 with autoinflammation<\/td>\n<\/tr>\n |
| 611550<\/td> | NCR3<\/td> | Malaria, mild, susceptibility to<\/td>\n<\/tr>\n |
| 605254<\/td> | NCSTN<\/td> | Acne inversa, familial, 1<\/td>\n<\/tr>\n |
| 609449<\/td> | NDE1<\/td> | Microhydranencephaly; Lissencephaly 4 (with microcephaly)<\/td>\n<\/tr>\n |
| 605779<\/td> | NDIC<\/td> | Nail disorder, nonsyndromic congenital, 7<\/td>\n<\/tr>\n |
| 614149<\/td> | NDNC9<\/td> | Nail disorder, nonsyndromic congenital, 9<\/td>\n<\/tr>\n |
| 616506<\/td> | NDNF<\/td> | Hypogonadotropic hypogonadism 25 with anosmia<\/td>\n<\/tr>\n |
| 300658<\/td> | NDP<\/td> | Exudative vitreoretinopathy 2, X-linked, X-linked dominant, X-linked recessive; Norrie disease, X-linked recessive<\/td>\n<\/tr>\n |
| 605262<\/td> | NDRG1<\/td> | Charcot-Marie-Tooth disease, type 4D<\/td>\n<\/tr>\n |
| 600853<\/td> | NDST1<\/td> | Intellectual developmental disorder 46<\/td>\n<\/tr>\n |
| 300078<\/td> | NDUFA1<\/td> | Mitochondrial complex I deficiency, nuclear type 12, X-linked recessive<\/td>\n<\/tr>\n |
| 603835<\/td> | NDUFA10<\/td> | Mitochondrial complex I deficiency, nuclear type 22<\/td>\n<\/tr>\n |
| 612638<\/td> | NDUFA11<\/td> | Mitochondrial complex I deficiency, nuclear type 14<\/td>\n<\/tr>\n |
| 614530<\/td> | NDUFA12<\/td> | Mitochondrial complex I deficiency, nuclear type 23<\/td>\n<\/tr>\n |
| 609435<\/td> | NDUFA13<\/td> | Thyroid carcinoma, Hurthle cell; Mitochondrial complex I deficiency, nuclear type 28<\/td>\n<\/tr>\n |
| 602137<\/td> | NDUFA2<\/td> | Mitochondrial complex I deficiency, nuclear type 13<\/td>\n<\/tr>\n |
| 603833<\/td> | NDUFA4<\/td> | Mitochondrial complex IV deficiency, nuclear type 21<\/td>\n<\/tr>\n |
| 602138<\/td> | NDUFA6<\/td> | Mitochondrial complex I deficiency, nuclear type 33<\/td>\n<\/tr>\n |
| 603359<\/td> | NDUFA8<\/td> | Mitochondrial complex I deficiency, nuclear type 37<\/td>\n<\/tr>\n |
| 603834<\/td> | NDUFA9<\/td> | Mitochondrial complex I deficiency, nuclear type 26<\/td>\n<\/tr>\n |
| 606934<\/td> | NDUFAF1<\/td> | Mitochondrial complex I deficiency, nuclear type 11<\/td>\n<\/tr>\n |
| 609653<\/td> | NDUFAF2<\/td> | Mitochondrial complex I deficiency, nuclear type 10<\/td>\n<\/tr>\n |
| 612911<\/td> | NDUFAF3<\/td> | Mitochondrial complex I deficiency, nuclear type 18<\/td>\n<\/tr>\n |
| 611776<\/td> | NDUFAF4<\/td> | Mitochondrial complex I deficiency, nuclear type 15<\/td>\n<\/tr>\n |
| 612360<\/td> | NDUFAF5<\/td> | Mitochondrial complex I deficiency, nuclear type 16<\/td>\n<\/tr>\n |
| 612392<\/td> | NDUFAF6<\/td> | Mitochondrial complex I deficiency, nuclear type 17; Fanconi renotubular syndrome 5<\/td>\n<\/tr>\n |
| 618461<\/td> | NDUFAF8<\/td> | Mitochondrial complex I deficiency, nuclear type 34<\/td>\n<\/tr>\n |
| 603843<\/td> | NDUFB10<\/td> | Mitochondrial complex I deficiency, nuclear type 35<\/td>\n<\/tr>\n |
| 300403<\/td> | NDUFB11<\/td> | Linear skin defects with multiple congenital anomalies 3, X-linked dominant; Mitochondrial complex I deficiency, nuclear type 30, X-linked<\/td>\n<\/tr>\n |
| 603839<\/td> | NDUFB3<\/td> | Mitochondrial complex I deficiency, nuclear type 25<\/td>\n<\/tr>\n |
| 603842<\/td> | NDUFB7<\/td> | Mitochondrial complex I deficiency, nuclear type 39<\/td>\n<\/tr>\n |
| 602140<\/td> | NDUFB8<\/td> | Mitochondrial complex I deficiency, nuclear type 32<\/td>\n<\/tr>\n |
| 601445<\/td> | NDUFB9<\/td> | Mitochondrial complex I deficiency, nuclear type 24<\/td>\n<\/tr>\n |
| 603845<\/td> | NDUFC2<\/td> | Mitochondrial complex I deficiency, nuclear type 36<\/td>\n<\/tr>\n |
| 157655<\/td> | NDUFS1<\/td> | Mitochondrial complex I deficiency, nuclear type 5<\/td>\n<\/tr>\n |
| 602985<\/td> | NDUFS2<\/td> | Leber-like hereditary optic neuropathy 2; Mitochondrial complex I deficiency, nuclear type 6<\/td>\n<\/tr>\n |
| 603846<\/td> | NDUFS3<\/td> | Mitochondrial complex I deficiency, nuclear type 8<\/td>\n<\/tr>\n |
| 602694<\/td> | NDUFS4<\/td> | Mitochondrial complex I deficiency, nuclear type 1<\/td>\n<\/tr>\n |
| 603848<\/td> | NDUFS6<\/td> | Mitochondrial complex I deficiency, nuclear type 9<\/td>\n<\/tr>\n |
| 601825<\/td> | NDUFS7<\/td> | Mitochondrial complex I deficiency, nuclear type 3<\/td>\n<\/tr>\n |
| 602141<\/td> | NDUFS8<\/td> | Mitochondrial complex I deficiency, nuclear type 2<\/td>\n<\/tr>\n |
| 161015<\/td> | NDUFV1<\/td> | Mitochondrial complex I deficiency, nuclear type 4<\/td>\n<\/tr>\n |
| 600532<\/td> | NDUFV2<\/td> | Mitochondrial complex I deficiency, nuclear type 7<\/td>\n<\/tr>\n |
| 161650<\/td> | NEB<\/td> | Nemaline myopathy 2; Arthrogryposis multiplex congenita 6<\/td>\n<\/tr>\n |
| 611623<\/td> | NECAP1<\/td> | Developmental and epileptic encephalopathy 21<\/td>\n<\/tr>\n |
| 600644<\/td> | NECTIN1<\/td> | Cleft lip\/palate-ectodermal dysplasia syndrome; Orofacial cleft 7<\/td>\n<\/tr>\n |
| 609607<\/td> | NECTIN4<\/td> | Ectodermal dysplasia-syndactyly syndrome 1<\/td>\n<\/tr>\n |
| 606384<\/td> | NEDD4L<\/td> | Periventricular nodular heterotopia 7<\/td>\n<\/tr>\n |
| 609469<\/td> | NEDE<\/td> | Nephropathy, progressive, with deafness<\/td>\n<\/tr>\n |
| 162230<\/td> | NEFH<\/td> | Charcot-Marie-Tooth disease, axonal, type 2CC; Amyotrophic lateral sclerosis, susceptibility to<\/td>\n<\/tr>\n |
| 162280<\/td> | NEFL<\/td> | Charcot-Marie-Tooth disease, type 1F; Charcot-Marie-Tooth disease, dominant intermediate G; Charcot-Marie-Tooth disease, type 2E<\/td>\n<\/tr>\n |
| 604588<\/td> | NEK1<\/td> | Short-rib thoracic dysplasia 6 with or without polydactyly, Digenic recessive; Orofaciodigital syndrome II; Amyotrophic lateral sclerosis, susceptibility to, 24<\/td>\n<\/tr>\n |
| 618726<\/td> | NEK10<\/td> | Ciliary dyskinesia, primary, 44<\/td>\n<\/tr>\n |
| 604043<\/td> | NEK2<\/td> | Retinitis pigmentosa 67<\/td>\n<\/tr>\n |
| 609799<\/td> | NEK8<\/td> | Renal-hepatic-pancreatic dysplasia 2; Polycystic kidney disease 8; Nephronophthisis 9<\/td>\n<\/tr>\n |
| 609798<\/td> | NEK9<\/td> | Arthrogryposis, Perthes disease, and upward gaze palsy; Nevus comedonicus, somatic; Lethal congenital contracture syndrome 10<\/td>\n<\/tr>\n |
| 608378<\/td> | NEMF<\/td> | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy<\/td>\n<\/tr>\n |
| 617089<\/td> | NEPRO<\/td> | Anauxetic dysplasia 3<\/td>\n<\/tr>\n |
| 608272<\/td> | NEU1<\/td> | Sialidosis, type II; Sialidosis, type I<\/td>\n<\/tr>\n |
| 601724<\/td> | NEUROD1<\/td> | Type 2 diabetes mellitus, susceptibility to; Maturity-onset diabetes of the young 6<\/td>\n<\/tr>\n |
| 601725<\/td> | NEUROD2<\/td> | Developmental and epileptic encephalopathy 72<\/td>\n<\/tr>\n |
| 601726<\/td> | NEUROG1<\/td> | Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay<\/td>\n<\/tr>\n |
| 604882<\/td> | NEUROG3<\/td> | Diarrhea 4, malabsorptive, congenital<\/td>\n<\/tr>\n |
| 300524<\/td> | NEXMIF<\/td> | Intellectual developmental disorder, X-linked 98, X-linked dominant<\/td>\n<\/tr>\n |
| 613121<\/td> | NEXN<\/td> | Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20<\/td>\n<\/tr>\n |
| 613113<\/td> | NF1<\/td> | Watson syndrome; Leukemia, juvenile myelomonocytic, Somatic mutation; Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome<\/td>\n<\/tr>\n |
| 607379<\/td> | NF2<\/td> | Meningioma, NF2-related, somatic; Schwannomatosis, vestibular; Schwannomatosis, somatic<\/td>\n<\/tr>\n |
| 609145<\/td> | NFASC<\/td> | Neurodevelopmental disorder with central and peripheral motor dysfunction<\/td>\n<\/tr>\n |
| 600490<\/td> | NFATC2<\/td> | Joint contracture, osteochondromas, and B-cell lymphoma<\/td>\n<\/tr>\n |
| 600492<\/td> | NFE2L2<\/td> | Immunodeficiency, developmental delay, and hypohomocysteinemia<\/td>\n<\/tr>\n |
| 600727<\/td> | NFIA<\/td> | Brain malformations with or without urinary tract defects<\/td>\n<\/tr>\n |
| 600728<\/td> | NFIB<\/td> | Macrocephaly, acquired, with impaired intellectual development<\/td>\n<\/tr>\n |
| 164005<\/td> | NFIX<\/td> | Marshall-Smith syndrome; Malan syndrome<\/td>\n<\/tr>\n |
| 164011<\/td> | NFKB1<\/td> | Immunodeficiency, common variable, 12<\/td>\n<\/tr>\n |
| 164012<\/td> | NFKB2<\/td> | Immunodeficiency, common variable, 10<\/td>\n<\/tr>\n |
| 164008<\/td> | NFKBIA<\/td> | Ectodermal dysplasia and immunodeficiency 2<\/td>\n<\/tr>\n |
| 601022<\/td> | NFKBIL1<\/td> | Rheumatoid arthritis, susceptibility to<\/td>\n<\/tr>\n |
| 603485<\/td> | NFS1<\/td> | Combined oxidative phosphorylation deficiency 52<\/td>\n<\/tr>\n |
| 608100<\/td> | NFU1<\/td> | Spastic paraplegia 93; Multiple mitochondrial dysfunctions syndrome 1<\/td>\n<\/tr>\n |
| 162030<\/td> | NGF<\/td> | Neuropathy, hereditary sensory and autonomic, type V<\/td>\n<\/tr>\n |
| 610661<\/td> | NGLY1<\/td> | Congenital disorder of deglycosylation 1<\/td>\n<\/tr>\n |
| 611290<\/td> | NHEJ1<\/td> | Microphthalmia\/coloboma 13; Immunodeficiency 124, severe combined<\/td>\n<\/tr>\n |
| 604990<\/td> | NHERF1<\/td> | Nephrolithiasis\/osteoporosis, hypophosphatemic, 2<\/td>\n<\/tr>\n |
| 162361<\/td> | NHLH2<\/td> | Hypogonadotropic hypogonadism 27 without anosmia<\/td>\n<\/tr>\n |
| 608072<\/td> | NHLRC1<\/td> | Myoclonic epilepsy of Lafora 2<\/td>\n<\/tr>\n |
| 618277<\/td> | NHLRC2<\/td> | FINCA syndrome<\/td>\n<\/tr>\n |
| 606470<\/td> | NHP2<\/td> | Dyskeratosis congenita 2<\/td>\n<\/tr>\n |
| 300457<\/td> | NHS<\/td> | Cataract 40, X-linked, X-linked; Nance-Horan syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 601407<\/td> | NIDDM2<\/td> | Diabetes mellitus, noninsulin-dependent, 2<\/td>\n<\/tr>\n |
| 603694<\/td> | NIDDM3<\/td> | Type 2 diabetes mellitus 3<\/td>\n<\/tr>\n |
| 608036<\/td> | NIDDM4<\/td> | Diabetes mellitus, noninsulin-dependent<\/td>\n<\/tr>\n |
| 608684<\/td> | NIN<\/td> | Seckel syndrome 7<\/td>\n<\/tr>\n |
| 608145<\/td> | NIPA1<\/td> | Spastic paraplegia 6<\/td>\n<\/tr>\n |
| 609383<\/td> | NIPAL4<\/td> | Ichthyosis, congenital 6<\/td>\n<\/tr>\n |
| 608667<\/td> | NIPBL<\/td> | Cornelia de Lange syndrome 1<\/td>\n<\/tr>\n |
| 300766<\/td> | NKAP<\/td> | Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, X-linked recessive<\/td>\n<\/tr>\n |
| 272370<\/td> | NKS1<\/td> | Lysis by alloreactive natural killer cells, susceptibility to<\/td>\n<\/tr>\n |
| 600635<\/td> | NKX2-1<\/td> | Chorea, hereditary benign; Thyroid cancer, nonmedullary, 1; Choreoathetosis, hypothyroidism, and neonatal respiratory distress<\/td>\n<\/tr>\n |
| 600584<\/td> | NKX2-5<\/td> | Hypoplastic left heart syndrome 2; Tetralogy of Fallot; Hypothyroidism, congenital nongoitrous, 5; Conotruncal heart malformations, variable; Ventricular septal defect 3; Atrial septal defect 7, with or without AV conduction defects<\/td>\n<\/tr>\n |
| 611770<\/td> | NKX2-6<\/td> | Persistent truncus arteriosus; Conotruncal heart malformations<\/td>\n<\/tr>\n |
| 602183<\/td> | NKX3-2<\/td> | Spondylo-megaepiphyseal-metaphyseal dysplasia<\/td>\n<\/tr>\n |
| 605955<\/td> | NKX6-2<\/td> | Spastic ataxia 8, with hypomyelinating leukodystrophy<\/td>\n<\/tr>\n |
| 600568<\/td> | NLGN1<\/td> | Autism, susceptibility to, 20<\/td>\n<\/tr>\n |
| 300336<\/td> | NLGN3<\/td> | Autism susceptibility, X-linked 1, X-linked<\/td>\n<\/tr>\n |
| 300427<\/td> | NLGN4X<\/td> | Intellectual developmental disorder, X-linked, X-linked; Autism susceptibility, X-linked 2, X-linked<\/td>\n<\/tr>\n |
| 606831<\/td> | NLRC4<\/td> | Familial cold autoinflammatory syndrome 4; Autoinflammation with infantile enterocolitis<\/td>\n<\/tr>\n |
| 606636<\/td> | NLRP1<\/td> | Vitiligo-associated multiple autoimmune disease susceptibility 1; Respiratory papillomatosis, juvenile recurrent, congenital; Autoinflammation with arthritis and dyskeratosis; Palmoplantar carcinoma, multiple self-healing<\/td>\n<\/tr>\n |
| 609648<\/td> | NLRP12<\/td> | Familial cold autoinflammatory syndrome 2<\/td>\n<\/tr>\n |
| 609364<\/td> | NLRP2<\/td> | Oocyte\/zygote\/embryo maturation arrest 18<\/td>\n<\/tr>\n |
| 606416<\/td> | NLRP3<\/td> | CINCA syndrome; Familial cold inflammatory syndrome 1; Keratoendothelitis fugax hereditaria; Deafness 34, with or without inflammation; Muckle-Wells syndrome<\/td>\n<\/tr>\n |
| 609658<\/td> | NLRP5<\/td> | Oocyte\/zygote\/embryo maturation arrest 19<\/td>\n<\/tr>\n |
| 609661<\/td> | NLRP7<\/td> | Hydatidiform mole, recurrent, 1<\/td>\n<\/tr>\n |
| 603575<\/td> | NME5<\/td> | Ciliary dyskinesia, primary, 48, without situs inversus<\/td>\n<\/tr>\n |
| 607421<\/td> | NME8<\/td> | Ciliary dyskinesia, primary, 6<\/td>\n<\/tr>\n |
| 608700<\/td> | NMNAT1<\/td> | Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; Leber congenital amaurosis 9<\/td>\n<\/tr>\n |
| 606240<\/td> | NMTC3<\/td> | Thyroid carcinoma, nonmedullary, 3<\/td>\n<\/tr>\n |
| 600008<\/td> | NNMT<\/td> | Homocysteine plasma level<\/td>\n<\/tr>\n |
| 600165<\/td> | NNO1<\/td> | Nanophthalmos-1<\/td>\n<\/tr>\n |
| 611897<\/td> | NNO3<\/td> | Nanophthalmos 3<\/td>\n<\/tr>\n |
| 607878<\/td> | NNT<\/td> | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency<\/td>\n<\/tr>\n |
| 610934<\/td> | NOBOX<\/td> | Premature ovarian failure 5<\/td>\n<\/tr>\n |
| 605956<\/td> | NOD2<\/td> | Blau syndrome; Yao syndrome, Multifactorial; Inflammatory bowel disease 1, Crohn disease, Multifactorial<\/td>\n<\/tr>\n |
| 601265<\/td> | NODAL<\/td> | Heterotaxy, visceral, 5<\/td>\n<\/tr>\n |
| 602991<\/td> | NOG<\/td> | Symphalangism, proximal, 1A; Brachydactyly, type B2; Stapes ankylosis with broad thumbs and toes; Tarsal-carpal coalition syndrome; Multiple synostoses syndrome 1<\/td>\n<\/tr>\n |
| 605235<\/td> | NOL3<\/td> | Myoclonus, familial, 1<\/td>\n<\/tr>\n |
| 300084<\/td> | NONO<\/td> | Intellectual developmental disorder, X-linked syndromic 34, X-linked<\/td>\n<\/tr>\n |
| 606471<\/td> | NOP10<\/td> | Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 9; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2; Dyskeratosis congenita 1<\/td>\n<\/tr>\n |
| 614154<\/td> | NOP56<\/td> | Spinocerebellar ataxia 36<\/td>\n<\/tr>\n |
| 605551<\/td> | NOS1AP<\/td> | Nephrotic syndrome, type 22<\/td>\n<\/tr>\n |
| 163730<\/td> | NOS2<\/td> | Malaria, resistance to<\/td>\n<\/tr>\n |
| 163729<\/td> | NOS3<\/td> | Coronary artery spasm 1, susceptibility to; Hypertension, susceptibility to, Multifactorial; Placental abruption; Alzheimer disease, late-onset, susceptibility to; Hypertension, pregnancy-induced; Ischemic stroke, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 190198<\/td> | NOTCH1<\/td> | Adams-Oliver syndrome 5; Aortic valve disease 1<\/td>\n<\/tr>\n |
| 600275<\/td> | NOTCH2<\/td> | Alagille syndrome 2; Hajdu-Cheney syndrome<\/td>\n<\/tr>\n |
| 618025<\/td> | NOTCH2NLC<\/td> | Tremor, hereditary essential, 6; Oculopharyngodistal myopathy 3; Neuronal intranuclear inclusion disease<\/td>\n<\/tr>\n |
| 600276<\/td> | NOTCH3<\/td> | Lateral meningocele syndrome; Myofibromatosis, infantile 2; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1<\/td>\n<\/tr>\n |
| 601991<\/td> | NOVA2<\/td> | Neurodevelopmental disorder with or without autistic features and\/or structural brain abnormalities<\/td>\n<\/tr>\n |
| 607623<\/td> | NPC1<\/td> | Niemann-Pick disease, type C1; Niemann-Pick disease, type D<\/td>\n<\/tr>\n |
| 608010<\/td> | NPC1L1<\/td> | Ezetimibe, nonresponse to; Low density lipoprotein cholesterol level QTL 7<\/td>\n<\/tr>\n |
| 601015<\/td> | NPC2<\/td> | Niemann-pick disease, type C2<\/td>\n<\/tr>\n |
| 607107<\/td> | NPCA1<\/td> | Nasopharyngeal carcinoma 1<\/td>\n<\/tr>\n |
| 161550<\/td> | NPCA2<\/td> | Nasopharyngeal carcinoma, susceptibility to, 2<\/td>\n<\/tr>\n |
| 607100<\/td> | NPHP1<\/td> | Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1<\/td>\n<\/tr>\n |
| 608002<\/td> | NPHP3<\/td> | Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7<\/td>\n<\/tr>\n |
| 607215<\/td> | NPHP4<\/td> | Senior-Loken syndrome 4; Nephronophthisis 4<\/td>\n<\/tr>\n |
| 602716<\/td> | NPHS1<\/td> | Nephrotic syndrome, type 1<\/td>\n<\/tr>\n |
| 604766<\/td> | NPHS2<\/td> | Nephrotic syndrome, type 2<\/td>\n<\/tr>\n |
| 164040<\/td> | NPM1<\/td> | Leukemia, acute myeloid, somatic<\/td>\n<\/tr>\n |
| 108780<\/td> | NPPA<\/td> | Atrial standstill 2; Atrial fibrillation, familial, 6<\/td>\n<\/tr>\n |
| 108961<\/td> | NPR2<\/td> | Epiphyseal chondrodysplasia, Miura type; Short stature with nonspecific skeletal abnormalities; Acromesomelic dysplasia 1, Maroteaux type<\/td>\n<\/tr>\n |
| 108962<\/td> | NPR3<\/td> | Boudin-Mortier syndrome<\/td>\n<\/tr>\n |
| 607072<\/td> | NPRL2<\/td> | Epilepsy, familial focal, with variable foci 2<\/td>\n<\/tr>\n |
| 600928<\/td> | NPRL3<\/td> | Epilepsy, familial focal, with variable foci 3<\/td>\n<\/tr>\n |
| 608595<\/td> | NPSR1<\/td> | Asthma, susceptibility to, 2<\/td>\n<\/tr>\n |
| 602367<\/td> | NPTX1<\/td> | Spinocerebellar ataxia 50<\/td>\n<\/tr>\n |
| 125860<\/td> | NQO1<\/td> | Breast cancer, poor survival after chemotherapy for; Leukemia, post-chemotherapy, susceptibility to; Benzene toxicity, susceptibility to<\/td>\n<\/tr>\n |
| 160998<\/td> | NQO2<\/td> | Breast cancer susceptibility, Somatic mutation<\/td>\n<\/tr>\n |
| 300473<\/td> | NR0B1<\/td> | Adrenal hypoplasia, congenital, X-linked recessive; 46XY sex reversal 2, dosage-sensitive, X-linked<\/td>\n<\/tr>\n |
| 604630<\/td> | NR0B2<\/td> | Obesity, mild, early-onset, Multifactorial<\/td>\n<\/tr>\n |
| 603826<\/td> | NR1H4<\/td> | Cholestasis, progressive familial intrahepatic, 5<\/td>\n<\/tr>\n |
| 604485<\/td> | NR2E3<\/td> | Retinitis pigmentosa 37; Enhanced S-cone syndrome<\/td>\n<\/tr>\n |
| 132890<\/td> | NR2F1<\/td> | Bosch-Boonstra-Schaaf optic atrophy syndrome<\/td>\n<\/tr>\n |
| 107773<\/td> | NR2F2<\/td> | 46XX sex reversal 5; Congenital heart defects, multiple types, 4<\/td>\n<\/tr>\n |
| 138040<\/td> | NR3C1<\/td> | Glucocorticoid resistance<\/td>\n<\/tr>\n |
| 600983<\/td> | NR3C2<\/td> | Pseudohypoaldosteronism type I; Hypertension, early-onset, with exacerbation in pregnancy<\/td>\n<\/tr>\n |
| 601828<\/td> | NR4A2<\/td> | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism<\/td>\n<\/tr>\n |
| 600542<\/td> | NR4A3<\/td> | Chondrosarcoma, extraskeletal myxoid<\/td>\n<\/tr>\n |
| 184757<\/td> | NR5A1<\/td> | 46XX sex reversal 4; Premature ovarian failure 7; 46XY sex reversal 3; Adrenocortical insufficiency; Spermatogenic failure 8<\/td>\n<\/tr>\n |
| 164790<\/td> | NRAS<\/td> | Noonan syndrome 6; RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic; Melanocytic nevus syndrome, congenital, somatic; Epidermal nevus, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Thyroid carcinoma, follicular, somatic; Neurocutaneous melanosis, somatic; Colorectal cancer, somatic<\/td>\n<\/tr>\n |
| 601581<\/td> | NRCAM<\/td> | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities<\/td>\n<\/tr>\n |
| 605841<\/td> | NRCLP2<\/td> | Narcolepsy 2<\/td>\n<\/tr>\n |
| 609039<\/td> | NRCLP3<\/td> | Narcolepsy 3<\/td>\n<\/tr>\n |
| 612417<\/td> | NRCLP4<\/td> | Narcolepsy 4<\/td>\n<\/tr>\n |
| 612851<\/td> | NRCLP5<\/td> | Narcolepsy 5<\/td>\n<\/tr>\n |
| 614223<\/td> | NRCLP6<\/td> | Narcolepsy 6<\/td>\n<\/tr>\n |
| 142445<\/td> | NRG1<\/td> | Schizophrenia, susceptibility to<\/td>\n<\/tr>\n |
| 602490<\/td> | NRIP1<\/td> | Congenital anomalies of kidney and urinary tract 3<\/td>\n<\/tr>\n |
| 162080<\/td> | NRL<\/td> | Retinitis pigmentosa 27; Retinal degeneration, clumped pigment type<\/td>\n<\/tr>\n |
| 615322<\/td> | NRROS<\/td> | Seizures, early-onset, with neurodegeneration and brain calcification<\/td>\n<\/tr>\n |
| 600565<\/td> | NRXN1<\/td> | Pitt-Hopkins-like syndrome 2; Schizophrenia, susceptibility to, 17<\/td>\n<\/tr>\n |
| 606681<\/td> | NSD1<\/td> | Sotos syndrome<\/td>\n<\/tr>\n |
| 602952<\/td> | NSD2<\/td> | Rauch-Steindl syndrome<\/td>\n<\/tr>\n |
| 300275<\/td> | NSDHL<\/td> | CK syndrome, X-linked recessive; CHILD syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 601633<\/td> | NSF<\/td> | Developmental and epileptic encephalopathy 96<\/td>\n<\/tr>\n |
| 617246<\/td> | NSMCE2<\/td> | Seckel syndrome 10<\/td>\n<\/tr>\n |
| 608243<\/td> | NSMCE3<\/td> | Lung disease, immunodeficiency, and chromosome breakage syndrome<\/td>\n<\/tr>\n |
| 608137<\/td> | NSMF<\/td> | Hypogonadotropic hypogonadism 9 with or without anosmia<\/td>\n<\/tr>\n |
| 616173<\/td> | NSRP1<\/td> | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities<\/td>\n<\/tr>\n |
| 610916<\/td> | NSUN2<\/td> | Intellectual developmental disorder 5<\/td>\n<\/tr>\n |
| 617491<\/td> | NSUN3<\/td> | Combined oxidative phosphorylation deficiency 48<\/td>\n<\/tr>\n |
| 617199<\/td> | NSUN6<\/td> | Intellectual developmental disorder 82<\/td>\n<\/tr>\n |
| 600417<\/td> | NT5C2<\/td> | Spastic paraplegia 45<\/td>\n<\/tr>\n |
| 606224<\/td> | NT5C3A<\/td> | Anemia, congenital, nonspherocytic hemolytic, 8<\/td>\n<\/tr>\n |
| 129190<\/td> | NT5E<\/td> | Calcification of joints and arteries<\/td>\n<\/tr>\n |
| 162662<\/td> | NTF4<\/td> | Glaucoma 1, open angle, 1O<\/td>\n<\/tr>\n |
| 602656<\/td> | NTHL1<\/td> | Familial adenomatous polyposis 3<\/td>\n<\/tr>\n |
| 601614<\/td> | NTN1<\/td> | Mirror movements 4<\/td>\n<\/tr>\n |
| 618689<\/td> | NTNG2<\/td> | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia<\/td>\n<\/tr>\n |
| 191315<\/td> | NTRK1<\/td> | Insensitivity to pain, congenital, with anhidrosis<\/td>\n<\/tr>\n |
| 600456<\/td> | NTRK2<\/td> | Developmental and epileptic encephalopathy 58; Obesity, hyperphagia, and developmental delay<\/td>\n<\/tr>\n |
| 608131<\/td> | NUAK2<\/td> | Anencephaly 2<\/td>\n<\/tr>\n |
| 613621<\/td> | NUBPL<\/td> | Mitochondrial complex I deficiency, nuclear type 21<\/td>\n<\/tr>\n |
| 615792<\/td> | NUDT15<\/td> | Thiopurines, poor metabolism of, 2<\/td>\n<\/tr>\n |
| 602852<\/td> | NUDT2<\/td> | Intellectual developmental disorder with or without peripheral neuropathy<\/td>\n<\/tr>\n |
| 607617<\/td> | NUP107<\/td> | Ovarian dysgenesis 6; Galloway-Mowat syndrome 7; Nephrotic syndrome, type 11<\/td>\n<\/tr>\n |
| 607613<\/td> | NUP133<\/td> | Galloway-Mowat syndrome 8; Nephrotic syndrome, type 18<\/td>\n<\/tr>\n |
| 606694<\/td> | NUP155<\/td> | Atrial fibrillation 15<\/td>\n<\/tr>\n |
| 607614<\/td> | NUP160<\/td> | Nephrotic syndrome, type 19<\/td>\n<\/tr>\n |
| 615587<\/td> | NUP188<\/td> | Sandestig-Stefanova syndrome<\/td>\n<\/tr>\n |
| 614352<\/td> | NUP205<\/td> | Nephrotic syndrome, type 13<\/td>\n<\/tr>\n |
| 114350<\/td> | NUP214<\/td> | Leukemia, T-cell acute lymphoblastic, somatic; Leukemia, acute myeloid, somatic; Encephalopathy, acute, infection-induced, susceptibility to, 9<\/td>\n<\/tr>\n |
| 609264<\/td> | NUP37<\/td> | Microcephaly 24, primary<\/td>\n<\/tr>\n |
| 607607<\/td> | NUP54<\/td> | Dystonia 37, early-onset, with striatal lesions<\/td>\n<\/tr>\n |
| 605815<\/td> | NUP62<\/td> | Striatonigral degeneration, infantile<\/td>\n<\/tr>\n |
| 170285<\/td> | NUP85<\/td> | Nephrotic syndrome, type 17<\/td>\n<\/tr>\n |
| 602552<\/td> | NUP88<\/td> | Fetal akinesia deformation sequence 4<\/td>\n<\/tr>\n |
| 614351<\/td> | NUP93<\/td> | Nephrotic syndrome, type 12<\/td>\n<\/tr>\n |
| 610463<\/td> | NUS1<\/td> | Intellectual developmental disorder 55, with seizures; Congenital disorder of glycosylation, type 1aa<\/td>\n<\/tr>\n |
| 618639<\/td> | NUTM2B-AS1<\/td> | Oculopharyngeal myopathy with leukoencephalopathy 1<\/td>\n<\/tr>\n |
| 612895<\/td> | NXN<\/td> | Robinow syndrome 2<\/td>\n<\/tr>\n |
| 164100<\/td> | NYS2<\/td> | Nystagmus 2, congenital<\/td>\n<\/tr>\n |
| 608345<\/td> | NYS3<\/td> | Nystagmus 3, congenital<\/td>\n<\/tr>\n |
| 300589<\/td> | NYS5<\/td> | Nystagmus 5, congenital, X-linked, X-linked dominant<\/td>\n<\/tr>\n |
| 300278<\/td> | NYX<\/td> | Night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 164350<\/td> | OAS1<\/td> | Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia<\/td>\n<\/tr>\n |
| 300650<\/td> | OASD<\/td> | Ocular albinism with sensorineural deafness, X-linked<\/td>\n<\/tr>\n |
| 613349<\/td> | OAT<\/td> | Gyrate atrophy of choroid and retina with or without ornithinemia<\/td>\n<\/tr>\n |
| 608616<\/td> | OBSCN<\/td> | Rhabdomyolysis, susceptibility to, 1<\/td>\n<\/tr>\n |
| 610991<\/td> | OBSL1<\/td> | 3-M syndrome 2<\/td>\n<\/tr>\n |
| 611409<\/td> | OCA2<\/td> | Skin\/hair\/eye pigmentation 1, blue\/nonblue eyes; Skin\/hair\/eye pigmentation 1, blond\/brown hair; Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II<\/td>\n<\/tr>\n |
| 615312<\/td> | OCA5<\/td> | Albinism, oculocutaneous, type V<\/td>\n<\/tr>\n |
| 602876<\/td> | OCLN<\/td> | Pseudo-TORCH syndrome 1<\/td>\n<\/tr>\n |
| 300535<\/td> | OCRL<\/td> | Dent disease 2, X-linked recessive; Lowe syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 615038<\/td> | ODAD1<\/td> | Ciliary dyskinesia, primary, 20<\/td>\n<\/tr>\n |
| 615408<\/td> | ODAD2<\/td> | Ciliary dyskinesia, primary, 23<\/td>\n<\/tr>\n |
| 615956<\/td> | ODAD3<\/td> | Ciliary dyskinesia, primary, 30<\/td>\n<\/tr>\n |
| 617095<\/td> | ODAD4<\/td> | Ciliary dyskinesia, primary, 35<\/td>\n<\/tr>\n |
| 614829<\/td> | ODAPH<\/td> | Amelogenesis imperfecta, type IIA4<\/td>\n<\/tr>\n |
| 165640<\/td> | ODC1<\/td> | Bachmann-Bupp syndrome<\/td>\n<\/tr>\n |
| 610064<\/td> | ODS1<\/td> | Opioid dependence, susceptibility to, 1<\/td>\n<\/tr>\n |
| 119530<\/td> | OFC1<\/td> | Orofacial cleft-1<\/td>\n<\/tr>\n |
| 612858<\/td> | OFC12<\/td> | Orofacial cleft 12<\/td>\n<\/tr>\n |
| 613857<\/td> | OFC13<\/td> | Orofacial cleft 13<\/td>\n<\/tr>\n |
| 615892<\/td> | OFC14<\/td> | Orofacial cleft 14<\/td>\n<\/tr>\n |
| 602966<\/td> | OFC2<\/td> | Orofacial cleft 2<\/td>\n<\/tr>\n |
| 600757<\/td> | OFC3<\/td> | Orofacial cleft 3, Autosomal dominant<\/td>\n<\/tr>\n |
| 608371<\/td> | OFC4<\/td> | Orofacial cleft 4<\/td>\n<\/tr>\n |
| 610361<\/td> | OFC9<\/td> | Orofacial cleft 9<\/td>\n<\/tr>\n |
| 300170<\/td> | OFD1<\/td> | Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive; Retinitis pigmentosa 23, X-linked recessive; Orofaciodigital syndrome I, X-linked dominant; Joubert syndrome 10, X-linked recessive<\/td>\n<\/tr>\n |
| 613022<\/td> | OGDH<\/td> | Oxoglutarate dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 617513<\/td> | OGDHL<\/td> | Yoon-Bellen neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 601982<\/td> | OGG1<\/td> | Renal cell carcinoma, clear cell, somatic<\/td>\n<\/tr>\n |
| 300255<\/td> | OGT<\/td> | Intellectual developmental disorder, X-linked 106, X-linked recessive<\/td>\n<\/tr>\n |
| 143850<\/td> | OHDS<\/td> | Orthostatic hypotensive disorder of Streeten<\/td>\n<\/tr>\n |
| 602601<\/td> | OLR1<\/td> | Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 605290<\/td> | OPA1<\/td> | Optic atrophy plus syndrome; Glaucoma, normal tension, susceptibility to; Optic atrophy 1; Behr syndrome; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)<\/td>\n<\/tr>\n |
| 311050<\/td> | OPA2<\/td> | Optic atrophy 2, X-linked, X-linked<\/td>\n<\/tr>\n |
| 606580<\/td> | OPA3<\/td> | 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract<\/td>\n<\/tr>\n |
| 605293<\/td> | OPA4<\/td> | Optic atrophy 4<\/td>\n<\/tr>\n |
| 258500<\/td> | OPA6<\/td> | Optic atrophy 6<\/td>\n<\/tr>\n |
| 616648<\/td> | OPA8<\/td> | Optic atrophy 8<\/td>\n<\/tr>\n |
| 600632<\/td> | OPCML<\/td> | Ovarian cancer, somatic<\/td>\n<\/tr>\n |
| 300127<\/td> | OPHN1<\/td> | Intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive<\/td>\n<\/tr>\n |
| 614243<\/td> | OPLAH<\/td> | 5-oxoprolinase deficiency<\/td>\n<\/tr>\n |
| 300822<\/td> | OPN1LW<\/td> | Blue cone monochromacy, X-linked recessive; Colorblindness, protan, X-linked<\/td>\n<\/tr>\n |
| 300821<\/td> | OPN1MW<\/td> | Colorblindness, deutan, X-linked; Blue cone monochromacy, X-linked recessive<\/td>\n<\/tr>\n |
| 613522<\/td> | OPN1SW<\/td> | Colorblindness, tritan<\/td>\n<\/tr>\n |
| 602432<\/td> | OPTN<\/td> | Glaucoma 1, open angle, E; Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia; Glaucoma, normal tension, susceptibility to<\/td>\n<\/tr>\n |
| 615016<\/td> | OR2J3<\/td> | C3HEX, ability to smell<\/td>\n<\/tr>\n |
| 610277<\/td> | ORAI1<\/td> | Immunodeficiency 9; Myopathy, tubular aggregate, 2<\/td>\n<\/tr>\n |
| 601902<\/td> | ORC1<\/td> | Meier-Gorlin syndrome 1<\/td>\n<\/tr>\n |
| 603056<\/td> | ORC4<\/td> | Meier-Gorlin syndrome 2<\/td>\n<\/tr>\n |
| 607213<\/td> | ORC6<\/td> | Meier-Gorlin syndrome 3<\/td>\n<\/tr>\n |
| 610839<\/td> | OS4<\/td> | Osteoarthritis susceptibility 4<\/td>\n<\/tr>\n |
| 612401<\/td> | OS6<\/td> | Osteoarthritis susceptibility 6<\/td>\n<\/tr>\n |
| 606731<\/td> | OSBPL2<\/td> | Deafness 67<\/td>\n<\/tr>\n |
| 610107<\/td> | OSGEP<\/td> | Galloway-Mowat syndrome 3<\/td>\n<\/tr>\n |
| 601743<\/td> | OSMR<\/td> | Amyloidosis, primary localized cutaneous, 1<\/td>\n<\/tr>\n |
| 607649<\/td> | OSTM1<\/td> | Osteopetrosis 5<\/td>\n<\/tr>\n |
| 300461<\/td> | OTC<\/td> | Ornithine transcarbamylase deficiency, X-linked<\/td>\n<\/tr>\n |
| 607038<\/td> | OTOA<\/td> | Deafness 22<\/td>\n<\/tr>\n |
| 603681<\/td> | OTOF<\/td> | Auditory neuropathy, 1; Deafness 9<\/td>\n<\/tr>\n |
| 604487<\/td> | OTOG<\/td> | Deafness 18B<\/td>\n<\/tr>\n |
| 614925<\/td> | OTOGL<\/td> | Deafness 84B<\/td>\n<\/tr>\n |
| 166800<\/td> | OTSC1<\/td> | Otosclerosis 1<\/td>\n<\/tr>\n |
| 615589<\/td> | OTSC10<\/td> | Otosclerosis 10<\/td>\n<\/tr>\n |
| 605727<\/td> | OTSC2<\/td> | Otosclerosis 2<\/td>\n<\/tr>\n |
| 608244<\/td> | OTSC3<\/td> | Otosclerosis 3<\/td>\n<\/tr>\n |
| 611571<\/td> | OTSC4<\/td> | Otosclerosis 4<\/td>\n<\/tr>\n |
| 608787<\/td> | OTSC5<\/td> | Otosclerosis 5<\/td>\n<\/tr>\n |
| 611572<\/td> | OTSC7<\/td> | Otosclerosis 7<\/td>\n<\/tr>\n |
| 612096<\/td> | OTSC8<\/td> | Otosclerosis 8<\/td>\n<\/tr>\n |
| 300713<\/td> | OTUD5<\/td> | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 612021<\/td> | OTUD6B<\/td> | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies<\/td>\n<\/tr>\n |
| 612024<\/td> | OTUD7A<\/td> | Neurodevelopmental disorder with hypotonia and seizures<\/td>\n<\/tr>\n |
| 615712<\/td> | OTULIN<\/td> | Autoinflammation, panniculitis, and dermatosis syndrome; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection<\/td>\n<\/tr>\n |
| 600037<\/td> | OTX2<\/td> | Retinal dystrophy, early-onset, with or without pituitary dysfunction; Pituitary hormone deficiency, combined, 6; Microphthalmia, syndromic 5<\/td>\n<\/tr>\n |
| 607893<\/td> | OVCAS1<\/td> | Ovarian cancer, susceptibility to<\/td>\n<\/tr>\n |
| 616441<\/td> | OVOL2<\/td> | Corneal dystrophy, posterior polymorphous, 1<\/td>\n<\/tr>\n |
| 601424<\/td> | OXCT1<\/td> | Succinyl CoA:3-oxoacid CoA transferase deficiency<\/td>\n<\/tr>\n |
| 606922<\/td> | OXGR1<\/td> | Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis<\/td>\n<\/tr>\n |
| 605609<\/td> | OXR1<\/td> | Cerebellar hypoplasia\/atrophy, epilepsy, and global developmental delay<\/td>\n<\/tr>\n |
| 600844<\/td> | P2RX2<\/td> | Deafness 41<\/td>\n<\/tr>\n |
| 600515<\/td> | P2RY12<\/td> | Bleeding disorder, platelet-type, 8<\/td>\n<\/tr>\n |
| 610339<\/td> | P3H1<\/td> | Osteogenesis imperfecta, type VIII<\/td>\n<\/tr>\n |
| 610341<\/td> | P3H2<\/td> | Myopia, high, with cataract and vitreoretinal degeneration<\/td>\n<\/tr>\n |
| 600608<\/td> | P4HA2<\/td> | Myopia 25<\/td>\n<\/tr>\n |
| 176790<\/td> | P4HB<\/td> | Cole-Carpenter syndrome 1<\/td>\n<\/tr>\n |
| 614584<\/td> | P4HTM<\/td> | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities<\/td>\n<\/tr>\n |
| 602279<\/td> | PABPN1<\/td> | Oculopharyngeal muscular dystrophy<\/td>\n<\/tr>\n |
| 607492<\/td> | PACS1<\/td> | Schuurs-Hoeijmakers syndrome<\/td>\n<\/tr>\n |
| 610423<\/td> | PACS2<\/td> | Developmental and epileptic encephalopathy 66<\/td>\n<\/tr>\n |
| 606755<\/td> | PADI3<\/td> | Uncombable hair syndrome<\/td>\n<\/tr>\n |
| 610363<\/td> | PADI6<\/td> | Oocyte\/zygote\/embryo maturation arrest 16<\/td>\n<\/tr>\n |
| 601545<\/td> | PAFAH1B1<\/td> | Subcortical laminar heterotopia; Lissencephaly 1<\/td>\n<\/tr>\n |
| 128700<\/td> | PAFC<\/td> | Preauricular fistulae, congenital<\/td>\n<\/tr>\n |
| 612349<\/td> | PAH<\/td> | Hyperphenylalaninemia, non-PKU mild; Phenylketonuria<\/td>\n<\/tr>\n |
| 172439<\/td> | PAICS<\/td> | Phosphoribosylaminoimidazole carboxylase deficiency<\/td>\n<\/tr>\n |
| 602590<\/td> | PAK1<\/td> | Intellectual developmental disorder with macrocephaly, seizures, and speech delay<\/td>\n<\/tr>\n |
| 605022<\/td> | PAK2<\/td> | Knobloch syndrome 2<\/td>\n<\/tr>\n |
| 300142<\/td> | PAK3<\/td> | Intellectual developmental disorder, X-linked 30, X-linked recessive<\/td>\n<\/tr>\n |
| 610355<\/td> | PALB2<\/td> | Breast-ovarian cancer, familial, susceptibility to, 5; Pancreatic cancer, susceptibility to, 3; Fanconi anemia, complementation group N<\/td>\n<\/tr>\n |
| 608092<\/td> | PALLD<\/td> | Pancreatic cancer, susceptibility to, 1<\/td>\n<\/tr>\n |
| 614336<\/td> | PAM16<\/td> | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type<\/td>\n<\/tr>\n |
| 167870<\/td> | PAND1<\/td> | Panic disorder syndrome 1, Autosomal dominant<\/td>\n<\/tr>\n |
| 607853<\/td> | PAND2<\/td> | Panic disorder 2<\/td>\n<\/tr>\n |
| 609985<\/td> | PAND3<\/td> | Panic disorder 3<\/td>\n<\/tr>\n |
| 606157<\/td> | PANK2<\/td> | Neurodegeneration with brain iron accumulation 1<\/td>\n<\/tr>\n |
| 606162<\/td> | PANK4<\/td> | Cataract 49<\/td>\n<\/tr>\n |
| 608420<\/td> | PANX1<\/td> | Oocyte\/zygote\/embryo maturation arrest 7<\/td>\n<\/tr>\n |
| 606787<\/td> | PAOD1<\/td> | Peripheral arterial occlusive disease 1<\/td>\n<\/tr>\n |
| 602085<\/td> | PAPA2<\/td> | Postaxial polydactyly, type A2<\/td>\n<\/tr>\n |
| 607324<\/td> | PAPA3<\/td> | Polydactyly, postaxial, type A3<\/td>\n<\/tr>\n |
| 608562<\/td> | PAPA4<\/td> | Polydactyly, postaxial, type A4<\/td>\n<\/tr>\n |
| 263450<\/td> | PAPA5<\/td> | Polydactyly, postaxial, type A5<\/td>\n<\/tr>\n |
| 619485<\/td> | PAPPA2<\/td> | Short stature, Dauber-Argente type<\/td>\n<\/tr>\n |
| 603005<\/td> | PAPSS2<\/td> | Brachyolmia 4 with mild epiphyseal and metaphyseal changes<\/td>\n<\/tr>\n |
| 606852<\/td> | PARK10<\/td> | Parkinson disease 10<\/td>\n<\/tr>\n |
| 300557<\/td> | PARK12<\/td> | Parkinson disease 12<\/td>\n<\/tr>\n |
| 613164<\/td> | PARK16<\/td> | Parkinson disease 16<\/td>\n<\/tr>\n |
| 616361<\/td> | PARK21<\/td> | Parkinson disease 21<\/td>\n<\/tr>\n |
| 602404<\/td> | PARK3<\/td> | Parkinson disease 3<\/td>\n<\/tr>\n |
| 602533<\/td> | PARK7<\/td> | Parkinson disease 7 early-onset<\/td>\n<\/tr>\n |
| 604212<\/td> | PARN<\/td> | Dyskeratosis congenita 6; Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 4<\/td>\n<\/tr>\n |
| 612036<\/td> | PARS2<\/td> | Developmental and epileptic encephalopathy 75<\/td>\n<\/tr>\n |
| 614661<\/td> | PATL2<\/td> | Oocyte\/zygote\/embryo maturation arrest 4<\/td>\n<\/tr>\n |
| 610420<\/td> | PAURT1<\/td> | Preauricular tag, isolated, 1<\/td>\n<\/tr>\n |
| 167411<\/td> | PAX1<\/td> | Otofaciocervical syndrome 2 with T-cell deficiency<\/td>\n<\/tr>\n |
| 167409<\/td> | PAX2<\/td> | Glomerulosclerosis, focal segmental, 7; Papillorenal syndrome<\/td>\n<\/tr>\n |
| 606597<\/td> | PAX3<\/td> | Craniofacial-deafness-hand syndrome; Waardenburg syndrome, type 3; Waardenburg syndrome, type 1; Rhabdomyosarcoma 2, alveolar, Somatic mutation<\/td>\n<\/tr>\n |
| 167413<\/td> | PAX4<\/td> | Diabetes mellitus, ketosis-prone, susceptibility to; Maturity-onset diabetes of the young, type IX; Diabetes mellitus, type 2<\/td>\n<\/tr>\n |
| 167414<\/td> | PAX5<\/td> | Leukemia, acute lymphoblastic, susceptibility to, 3<\/td>\n<\/tr>\n |
| 607108<\/td> | PAX6<\/td> | Optic nerve hypoplasia; Cataract with late-onset corneal dystrophy; Microphthalmia\/coloboma 12; Coloboma of optic nerve; Aniridia; Anterior segment dysgenesis 5, multiple subtypes; Morning glory disc anomaly; Foveal hypoplasia 1; Keratitis<\/td>\n<\/tr>\n |
| 167410<\/td> | PAX7<\/td> | Congenital myopathy 19; Rhabdomyosarcoma 2, alveolar, Somatic mutation<\/td>\n<\/tr>\n |
| 167415<\/td> | PAX8<\/td> | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia<\/td>\n<\/tr>\n |
| 167416<\/td> | PAX9<\/td> | Tooth agenesis, selective, 3<\/td>\n<\/tr>\n |
| 613007<\/td> | PBC2<\/td> | Biliary cirrhosis, primary, 2<\/td>\n<\/tr>\n |
| 613008<\/td> | PBC3<\/td> | Biliary cirrhosis, primary, 3<\/td>\n<\/tr>\n |
| 614220<\/td> | PBC4<\/td> | Biliary cirrhosis, primary, 4<\/td>\n<\/tr>\n |
| 614221<\/td> | PBC5<\/td> | Biliary cirrhosis, primary, 5<\/td>\n<\/tr>\n |
| 600089<\/td> | PBCA<\/td> | Diabetes mellitus, insulin-dependent, neonatal<\/td>\n<\/tr>\n |
| 606083<\/td> | PBRM1<\/td> | Renal cell carcinoma, clear cell<\/td>\n<\/tr>\n |
| 176310<\/td> | PBX1<\/td> | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay<\/td>\n<\/tr>\n |
| 608786<\/td> | PC<\/td> | Pyruvate carboxylase deficiency<\/td>\n<\/tr>\n |
| 602759<\/td> | PCAP<\/td> | Prostate cancer, susceptibility to<\/td>\n<\/tr>\n |
| 613425<\/td> | PCARE<\/td> | Retinitis pigmentosa 54<\/td>\n<\/tr>\n |
| 126090<\/td> | PCBD1<\/td> | Hyperphenylalaninemia, BH4-deficient, D<\/td>\n<\/tr>\n |
| 232000<\/td> | PCCA<\/td> | Propionicacidemia<\/td>\n<\/tr>\n |
| 232050<\/td> | PCCB<\/td> | Propionicacidemia<\/td>\n<\/tr>\n |
| 605622<\/td> | PCDH12<\/td> | Diencephalic-mesencephalic junction dysplasia syndrome 1<\/td>\n<\/tr>\n |
| 605514<\/td> | PCDH15<\/td> | Usher syndrome, type 1D\/F digenic, Digenic recessive; Deafness 23; Usher syndrome, type 1F<\/td>\n<\/tr>\n |
| 300460<\/td> | PCDH19<\/td> | Developmental and epileptic encephalopathy 9, X-linked<\/td>\n<\/tr>\n |
| 606305<\/td> | PCDHGC4<\/td> | Neurodevelopmental disorder with poor growth and skeletal anomalies<\/td>\n<\/tr>\n |
| 600346<\/td> | PCGF2<\/td> | Turnpenny-Fry syndrome<\/td>\n<\/tr>\n |
| 614168<\/td> | PCK1<\/td> | Phosphoenolpyruvate carboxykinase deficiency, cytosolic<\/td>\n<\/tr>\n |
| 614095<\/td> | PCK2<\/td> | PEPCK deficiency, mitochondrial<\/td>\n<\/tr>\n |
| 604918<\/td> | PCLO<\/td> | Pontocerebellar hypoplasia, type 3<\/td>\n<\/tr>\n |
| 176740<\/td> | PCNA<\/td> | Ataxia-telangiectasia-like disorder 2<\/td>\n<\/tr>\n |
| 605925<\/td> | PCNT<\/td> | Microcephalic osteodysplastic primordial dwarfism, type II<\/td>\n<\/tr>\n |
| 184700<\/td> | PCOS1<\/td> | Polycystic ovary syndrome 1<\/td>\n<\/tr>\n |
| 162150<\/td> | PCSK1<\/td> | Obesity, susceptibility to, BMIQ12; Endocrinopathy due to proprotein convertase 1\/3 deficiency<\/td>\n<\/tr>\n |
| 607786<\/td> | PCSK9<\/td> | Low density lipoprotein cholesterol level QTL 1; Hypercholesterolemia, familial, 3<\/td>\n<\/tr>\n |
| 123695<\/td> | PCYT1A<\/td> | Spondylometaphyseal dysplasia with cone-rod dystrophy; Lipodystrophy, congenital generalized, type 5<\/td>\n<\/tr>\n |
| 602679<\/td> | PCYT2<\/td> | Spastic paraplegia 82<\/td>\n<\/tr>\n |
| 607411<\/td> | PDA1<\/td> | Patent ductus arteriosus, susceptibility to<\/td>\n<\/tr>\n |
| 606263<\/td> | PDB4<\/td> | Paget disease of bone 4<\/td>\n<\/tr>\n |
| 600244<\/td> | PDCD1<\/td> | Multiple sclerosis, disease progression, modifier of, Multifactorial; Systemic lupus erythematosus, susceptibility to, 2<\/td>\n<\/tr>\n |
| 609118<\/td> | PDCD10<\/td> | Cerebral cavernous malformations-3<\/td>\n<\/tr>\n |
| 608074<\/td> | PDCD6IP<\/td> | Microcephaly 29, primary<\/td>\n<\/tr>\n |
| 614590<\/td> | PDCOS<\/td> | Podoconiosis, susceptibility to<\/td>\n<\/tr>\n |
| 610652<\/td> | PDE10A<\/td> | Striatal degeneration; Dyskinesia, limb and orofacial, infantile-onset<\/td>\n<\/tr>\n |
| 604961<\/td> | PDE11A<\/td> | Pigmented nodular adrenocortical disease, primary, 2<\/td>\n<\/tr>\n |
| 602987<\/td> | PDE1C<\/td> | Deafness 74<\/td>\n<\/tr>\n |
| 602658<\/td> | PDE2A<\/td> | Intellectual developmental disorder with paroxysmal dyskinesia or seizures<\/td>\n<\/tr>\n |
| 123805<\/td> | PDE3A<\/td> | Hypertension and brachydactyly syndrome<\/td>\n<\/tr>\n |
| 600129<\/td> | PDE4D<\/td> | Acrodysostosis 2, with or without hormone resistance<\/td>\n<\/tr>\n |
| 180071<\/td> | PDE6A<\/td> | Retinitis pigmentosa 43<\/td>\n<\/tr>\n |
| 180072<\/td> | PDE6B<\/td> | Retinitis pigmentosa-40; Night blindness, congenital stationary 2<\/td>\n<\/tr>\n |
| 600827<\/td> | PDE6C<\/td> | Cone dystrophy 4<\/td>\n<\/tr>\n |
| 602676<\/td> | PDE6D<\/td> | Joubert syndrome 22<\/td>\n<\/tr>\n |
| 180073<\/td> | PDE6G<\/td> | Retinitis pigmentosa 57<\/td>\n<\/tr>\n |
| 601190<\/td> | PDE6H<\/td> | Retinal cone dystrophy 3; Achromatopsia 6<\/td>\n<\/tr>\n |
| 603390<\/td> | PDE8B<\/td> | Pigmented nodular adrenocortical disease, primary, 3; Striatal degeneration<\/td>\n<\/tr>\n |
| 190040<\/td> | PDGFB<\/td> | Meningioma, SIS-related; Basal ganglia calcification, idiopathic, 5; Dermatofibrosarcoma protuberans<\/td>\n<\/tr>\n |
| 173490<\/td> | PDGFRA<\/td> | Gastrointestinal stromal tumor\/GIST-plus syndrome, somatic or familial; Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Somatic mutation, Isolated cases<\/td>\n<\/tr>\n |
| 173410<\/td> | PDGFRB<\/td> | Premature aging syndrome, Penttinen type; Kosaki overgrowth syndrome; Myofibromatosis, infantile, 1; Basal ganglia calcification, idiopathic, 4; Myeloproliferative disorder with eosinophilia<\/td>\n<\/tr>\n |
| 604584<\/td> | PDGFRL<\/td> | Hepatocellular cancer, somatic; Colorectal cancer, somatic<\/td>\n<\/tr>\n |
| 300502<\/td> | PDHA1<\/td> | Pyruvate dehydrogenase E1-alpha deficiency, X-linked dominant<\/td>\n<\/tr>\n |
| 179061<\/td> | PDHA2<\/td> | Spermatogenic failure 70<\/td>\n<\/tr>\n |
| 179060<\/td> | PDHB<\/td> | Pyruvate dehydrogenase E1-beta deficiency<\/td>\n<\/tr>\n |
| 608769<\/td> | PDHX<\/td> | Lacticacidemia due to PDX1 deficiency<\/td>\n<\/tr>\n |
| 300906<\/td> | PDK3<\/td> | Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant<\/td>\n<\/tr>\n |
| 603422<\/td> | PDLIM4<\/td> | Osteoporosis, susceptibility to<\/td>\n<\/tr>\n |
| 608526<\/td> | PDON2<\/td> | Periodontitis, aggressive, 2<\/td>\n<\/tr>\n |
| 605993<\/td> | PDP1<\/td> | Pyruvate dehydrogenase phosphatase deficiency<\/td>\n<\/tr>\n |
| 607429<\/td> | PDSS1<\/td> | Coenzyme Q10 deficiency, primary, 2<\/td>\n<\/tr>\n |
| 610564<\/td> | PDSS2<\/td> | Coenzyme Q10 deficiency, primary, 3<\/td>\n<\/tr>\n |
| 600733<\/td> | PDX1<\/td> | Diabetes mellitus, type II, susceptibility to; Pancreatic agenesis 1; MODY, type IV<\/td>\n<\/tr>\n |
| 179020<\/td> | PDXK<\/td> | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy<\/td>\n<\/tr>\n |
| 131340<\/td> | PDYN<\/td> | Spinocerebellar ataxia 23<\/td>\n<\/tr>\n |
| 612971<\/td> | PDZD7<\/td> | Deafness 57; Retinal disease in Usher syndrome type IIA, modifier of; Usher syndrome, type IIC, GPR98\/PDZD7 digenic, Digenic dominant<\/td>\n<\/tr>\n |
| 614235<\/td> | PDZD8<\/td> | Intellectual developmental disorder with autism and dysmorphic facies<\/td>\n<\/tr>\n |
| 189800<\/td> | PEE1<\/td> | Preeclampsia\/eclampsia 1<\/td>\n<\/tr>\n |
| 609402<\/td> | PEE2<\/td> | Preeclampsia\/eclampsia 2<\/td>\n<\/tr>\n |
| 609403<\/td> | PEE3<\/td> | Preeclampsia\/eclampsia 3<\/td>\n<\/tr>\n |
| 613230<\/td> | PEPD<\/td> | Prolidase deficiency<\/td>\n<\/tr>\n |
| 603426<\/td> | PER2<\/td> | Advanced sleep phase syndrome, familial, 1<\/td>\n<\/tr>\n |
| 603427<\/td> | PER3<\/td> | Advanced sleep phase syndrome, familial, 3<\/td>\n<\/tr>\n |
| 618656<\/td> | PERCC1<\/td> | Diarrhea 11, malabsorptive, congenital<\/td>\n<\/tr>\n |
| 609301<\/td> | PERP<\/td> | Erythrokeratodermia variabilis et progressiva 7; Olmsted syndrome 2<\/td>\n<\/tr>\n |
| 614770<\/td> | PET100<\/td> | Mitochondrial complex IV deficiency, nuclear type 12<\/td>\n<\/tr>\n |
| 614771<\/td> | PET117<\/td> | Mitochondrial complex IV deficiency, nuclear type 19<\/td>\n<\/tr>\n |
| 602136<\/td> | PEX1<\/td> | Heimler syndrome 1; Peroxisome biogenesis disorder 1B (NALD\/IRD); Peroxisome biogenesis disorder 1A (Zellweger)<\/td>\n<\/tr>\n |
| 602859<\/td> | PEX10<\/td> | Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B<\/td>\n<\/tr>\n |
| 603867<\/td> | PEX11B<\/td> | Peroxisome biogenesis disorder 14B<\/td>\n<\/tr>\n |
| 601758<\/td> | PEX12<\/td> | Peroxisome biogenesis disorder 3B; Peroxisome biogenesis disorder 3A (Zellweger)<\/td>\n<\/tr>\n |
| 601789<\/td> | PEX13<\/td> | Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B<\/td>\n<\/tr>\n |
| 601791<\/td> | PEX14<\/td> | Peroxisome biogenesis disorder 13A (Zellweger)<\/td>\n<\/tr>\n |
| 603360<\/td> | PEX16<\/td> | Peroxisome biogenesis disorder 8B; Peroxisome biogenesis disorder 8A (Zellweger)<\/td>\n<\/tr>\n |
| 600279<\/td> | PEX19<\/td> | Peroxisome biogenesis disorder 12A (Zellweger)<\/td>\n<\/tr>\n |
| 170993<\/td> | PEX2<\/td> | Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B<\/td>\n<\/tr>\n |
| 608666<\/td> | PEX26<\/td> | Peroxisome biogenesis disorder 7B; Peroxisome biogenesis disorder 7A (Zellweger)<\/td>\n<\/tr>\n |
| 603164<\/td> | PEX3<\/td> | Peroxisome biogenesis disorder 10A (Zellweger); Peroxisome biogenesis disorder 10B<\/td>\n<\/tr>\n |
| 600414<\/td> | PEX5<\/td> | Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5<\/td>\n<\/tr>\n |
| 601498<\/td> | PEX6<\/td> | Peroxisome biogenesis disorder 4B; Peroxisome biogenesis disorder 4A (Zellweger); Heimler syndrome 2<\/td>\n<\/tr>\n |
| 601757<\/td> | PEX7<\/td> | Rhizomelic chondrodysplasia punctata, type 1; Peroxisome biogenesis disorder 9B<\/td>\n<\/tr>\n |
| 248310<\/td> | PFBI<\/td> | Malaria, intensity of infection<\/td>\n<\/tr>\n |
| 611384<\/td> | PFFE1<\/td> | Plasmodium falciparum fever episodes QTL1<\/td>\n<\/tr>\n |
| 140400<\/td> | PFHB2<\/td> | Progressive familial heart block, type II<\/td>\n<\/tr>\n |
| 171860<\/td> | PFKL<\/td> | Hemolytic anemia due to phosphofructokinase deficiency<\/td>\n<\/tr>\n |
| 610681<\/td> | PFKM<\/td> | Glycogen storage disease VII<\/td>\n<\/tr>\n |
| 609566<\/td> | PFM3<\/td> | Parietal foramina 3<\/td>\n<\/tr>\n |
| 176610<\/td> | PFN1<\/td> | Amyotrophic lateral sclerosis 18<\/td>\n<\/tr>\n |
| 612931<\/td> | PGAM2<\/td> | Glycogen storage disease X<\/td>\n<\/tr>\n |
| 611655<\/td> | PGAP1<\/td> | Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities<\/td>\n<\/tr>\n |
| 615187<\/td> | PGAP2<\/td> | Hyperphosphatasia with impaired intellectual development syndrome 3<\/td>\n<\/tr>\n |
| 611801<\/td> | PGAP3<\/td> | Hyperphosphatasia with impaired intellectual development syndrome 4<\/td>\n<\/tr>\n |
| 311800<\/td> | PGK1<\/td> | Phosphoglycerate kinase 1 deficiency, X-linked recessive<\/td>\n<\/tr>\n |
| 171900<\/td> | PGM1<\/td> | Congenital disorder of glycosylation, type It<\/td>\n<\/tr>\n |
| 611610<\/td> | PGM2L1<\/td> | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities<\/td>\n<\/tr>\n |
| 172100<\/td> | PGM3<\/td> | Immunodeficiency 23<\/td>\n<\/tr>\n |
| 607311<\/td> | PGR<\/td> | Progesterone resistance<\/td>\n<\/tr>\n |
| 145260<\/td> | PHA2A<\/td> | Pseudohypoaldosteronism, type IIA<\/td>\n<\/tr>\n |
| 608723<\/td> | PHACTR1<\/td> | Developmental and epileptic encephalopathy 70<\/td>\n<\/tr>\n |
| 176705<\/td> | PHB1<\/td> | Breast cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 602978<\/td> | PHC1<\/td> | Microcephaly 11, primary<\/td>\n<\/tr>\n |
| 300550<\/td> | PHEX<\/td> | Hypophosphatemic rickets, X-linked dominant, X-linked dominant<\/td>\n<\/tr>\n |
| 608325<\/td> | PHF21A<\/td> | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures<\/td>\n<\/tr>\n |
| 300414<\/td> | PHF6<\/td> | Borjeson-Forssman-Lehmann syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 300560<\/td> | PHF8<\/td> | Intellectual developmental disorder, X-linked syndromic, Siderius type, X-linked recessive<\/td>\n<\/tr>\n |
| 606879<\/td> | PHGDH<\/td> | Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency<\/td>\n<\/tr>\n |
| 612870<\/td> | PHIP<\/td> | Chung-Jansen syndrome<\/td>\n<\/tr>\n |
| 311870<\/td> | PHKA1<\/td> | Muscle glycogenosis, X-linked recessive<\/td>\n<\/tr>\n |
| 300798<\/td> | PHKA2<\/td> | Glycogen storage disease, type IXa2, X-linked recessive; Glycogen storage disease, type IXa1, X-linked recessive<\/td>\n<\/tr>\n |
| 172490<\/td> | PHKB<\/td> | Phosphorylase kinase deficiency of liver and muscle<\/td>\n<\/tr>\n |
| 172471<\/td> | PHKG2<\/td> | Glycogen storage disease IXc<\/td>\n<\/tr>\n |
| 612834<\/td> | PHLDB1<\/td> | Osteogenesis imperfecta, type XXIII<\/td>\n<\/tr>\n |
| 608251<\/td> | PHOBS<\/td> | Phobia, specific<\/td>\n<\/tr>\n |
| 602753<\/td> | PHOX2A<\/td> | Fibrosis of extraocular muscles, congenital, 2<\/td>\n<\/tr>\n |
| 603851<\/td> | PHOX2B<\/td> | Neuroblastoma, susceptibility to, 2; Neuroblastoma with Hirschsprung disease; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease<\/td>\n<\/tr>\n |
| 602026<\/td> | PHYH<\/td> | Refsum disease<\/td>\n<\/tr>\n |
| 614683<\/td> | PHYKPL<\/td> | Phosphohydroxylysinuria<\/td>\n<\/tr>\n |
| 609763<\/td> | PI4K2A<\/td> | Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities<\/td>\n<\/tr>\n |
| 600286<\/td> | PI4KA<\/td> | Spastic paraplegia 84; Gastrointestinal defects and immunodeficiency syndrome 2; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis<\/td>\n<\/tr>\n |
| 602758<\/td> | PI4KB<\/td> | Deafness 87<\/td>\n<\/tr>\n |
| 607532<\/td> | PIBF1<\/td> | Joubert syndrome 33<\/td>\n<\/tr>\n |
| 603025<\/td> | PICALM<\/td> | Leukemia, acute myeloid, somatic<\/td>\n<\/tr>\n |
| 605247<\/td> | PIDD1<\/td> | Intellectual developmental disorder 75, with neuropsychiatric features and variant lissencephaly<\/td>\n<\/tr>\n |
| 611184<\/td> | PIEZO1<\/td> | ER blood group system; Lymphatic malformation 6; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and\/or perinatal edema<\/td>\n<\/tr>\n |
| 613629<\/td> | PIEZO2<\/td> | Arthrogryposis, distal, type 5; Arthrogryposis, distal, with impaired proprioception and touch; Arthrogryposis, distal, type 3; Marden-Walker syndrome<\/td>\n<\/tr>\n |
| 311770<\/td> | PIGA<\/td> | Paroxysmal nocturnal hemoglobinuria, somatic; Multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive; Neurodevelopmental disorder with epilepsy and hemochromatosis, X-linked recessive<\/td>\n<\/tr>\n |
| 604122<\/td> | PIGB<\/td> | Developmental and epileptic encephalopathy 80<\/td>\n<\/tr>\n |
| 601730<\/td> | PIGC<\/td> | Glycosylphosphatidylinositol biosynthesis defect 16<\/td>\n<\/tr>\n |
| 600153<\/td> | PIGF<\/td> | Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome<\/td>\n<\/tr>\n |
| 616918<\/td> | PIGG<\/td> | Blood group, EMM system; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy<\/td>\n<\/tr>\n |
| 600154<\/td> | PIGH<\/td> | Glycosylphosphatidylinositol biosynthesis defect 17<\/td>\n<\/tr>\n |
| 605087<\/td> | PIGK<\/td> | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures<\/td>\n<\/tr>\n |
| 605947<\/td> | PIGL<\/td> | CHIME syndrome<\/td>\n<\/tr>\n |
| 610273<\/td> | PIGM<\/td> | Glycosylphosphatidylinositol deficiency<\/td>\n<\/tr>\n |
| 606097<\/td> | PIGN<\/td> | Multiple congenital anomalies-hypotonia-seizures syndrome 1<\/td>\n<\/tr>\n |
| 614730<\/td> | PIGO<\/td> | Hyperphosphatasia with impaired intellectual development syndrome 2<\/td>\n<\/tr>\n |
| 605938<\/td> | PIGP<\/td> | Developmental and epileptic encephalopathy 55<\/td>\n<\/tr>\n |
| 605754<\/td> | PIGQ<\/td> | Multiple congenital anomalies-hypotonia-seizures syndrome 4<\/td>\n<\/tr>\n |
| 610271<\/td> | PIGS<\/td> | Developmental and epileptic encephalopathy 95<\/td>\n<\/tr>\n |
| 610272<\/td> | PIGT<\/td> | Paroxysmal nocturnal hemoglobinuria 2, Somatic mutation; Multiple congenital anomalies-hypotonia-seizures syndrome 3<\/td>\n<\/tr>\n |
| 608528<\/td> | PIGU<\/td> | Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis<\/td>\n<\/tr>\n |
| 610274<\/td> | PIGV<\/td> | Hyperphosphatasia with impaired intellectual development syndrome 1<\/td>\n<\/tr>\n |
| 610275<\/td> | PIGW<\/td> | Glycosylphosphatidylinositol biosynthesis defect 11<\/td>\n<\/tr>\n |
| 610662<\/td> | PIGY<\/td> | Hyperphosphatasia with impaired intellectual development syndrome 6<\/td>\n<\/tr>\n |
| 603601<\/td> | PIK3C2A<\/td> | Oculoskeletodental syndrome<\/td>\n<\/tr>\n |
| 171834<\/td> | PIK3CA<\/td> | Hemifacial myohyperplasia, somatic; CLOVE syndrome, somatic; Hepatocellular carcinoma, somatic; Breast cancer, somatic; Cerebral cavernous malformations 4, somatic; Ovarian cancer, somatic; Colorectal cancer, somatic; Macrodactyly, somatic; CLAPO syndrome, somatic; Keratosis, seborrheic, somatic; Nevus, epidermal, somatic; Gastric cancer, somatic; Nonsmall cell lung cancer, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Cowden syndrome 5<\/td>\n<\/tr>\n |
| 602839<\/td> | PIK3CD<\/td> | Immunodeficiency 14A; Immunodeficiency 14B; Roifman-Chitayat syndrome, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 601232<\/td> | PIK3CG<\/td> | Immunodeficiency 97 with autoinflammation<\/td>\n<\/tr>\n |
| 171833<\/td> | PIK3R1<\/td> | Immunodeficiency 36; Agammaglobulinemia 7; SHORT syndrome<\/td>\n<\/tr>\n |
| 603157<\/td> | PIK3R2<\/td> | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1<\/td>\n<\/tr>\n |
| 611317<\/td> | PIK3R5<\/td> | Ataxia-oculomotor apraxia 3<\/td>\n<\/tr>\n |
| 609414<\/td> | PIKFYVE<\/td> | Corneal fleck dystrophy<\/td>\n<\/tr>\n |
| 608309<\/td> | PINK1<\/td> | Parkinson disease 6, early onset<\/td>\n<\/tr>\n |
| 606102<\/td> | PIP5K1C<\/td> | Lethal congenital contractural syndrome 3<\/td>\n<\/tr>\n |
| 612770<\/td> | PISD<\/td> | Liberfarb syndrome<\/td>\n<\/tr>\n |
| 608921<\/td> | PITPNM3<\/td> | Cone-rod dystrophy 5<\/td>\n<\/tr>\n |
| 618211<\/td> | PITRM1<\/td> | Spinocerebellar ataxia 30<\/td>\n<\/tr>\n |
| 602149<\/td> | PITX1<\/td> | Clubfoot, congenital, with or without deficiency of long bones and\/or mirror-image polydactyly<\/td>\n<\/tr>\n |
| 601542<\/td> | PITX2<\/td> | Ring dermoid of cornea; Axenfeld-Rieger syndrome, type 1; Anterior segment dysgenesis 4<\/td>\n<\/tr>\n |
| 602669<\/td> | PITX3<\/td> | Cataract 11, multiple types; Anterior segment dysgenesis 1, multiple subtypes; Cataract 11, syndromic<\/td>\n<\/tr>\n |
| 610219<\/td> | PJVK<\/td> | Deafness 59<\/td>\n<\/tr>\n |
| 601313<\/td> | PKD1<\/td> | Polycystic kidney disease 1<\/td>\n<\/tr>\n |
| 609721<\/td> | PKD1L1<\/td> | Heterotaxy, visceral, 8, autosomal<\/td>\n<\/tr>\n |
| 173910<\/td> | PKD2<\/td> | Polycystic kidney disease 2<\/td>\n<\/tr>\n |
| 614150<\/td> | PKDCC<\/td> | Rhizomelic limb shortening with dysmorphic features<\/td>\n<\/tr>\n |
| 606702<\/td> | PKHD1<\/td> | Polycystic kidney disease 4, with or without hepatic disease<\/td>\n<\/tr>\n |
| 607843<\/td> | PKHD1L1<\/td> | Deafness 124<\/td>\n<\/tr>\n |
| 609712<\/td> | PKLR<\/td> | Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient; Adenosine triphosphate, elevated, of erythrocytes<\/td>\n<\/tr>\n |
| 601975<\/td> | PKP1<\/td> | Ectodermal dysplasia\/skin fragility syndrome<\/td>\n<\/tr>\n |
| 602861<\/td> | PKP2<\/td> | Arrhythmogenic right ventricular dysplasia 9<\/td>\n<\/tr>\n |
| 172411<\/td> | PLA2G2A<\/td> | Colorectal cancer, susceptibility to, Somatic mutation<\/td>\n<\/tr>\n |
| 600522<\/td> | PLA2G4A<\/td> | Gastrointestinal ulceration, recurrent, with dysfunctional platelets<\/td>\n<\/tr>\n |
| 601192<\/td> | PLA2G5<\/td> | Fleck retina, familial benign<\/td>\n<\/tr>\n |
| 603604<\/td> | PLA2G6<\/td> | Parkinson disease 14; Neurodegeneration with brain iron accumulation 2B; Infantile neuroaxonal dystrophy 1<\/td>\n<\/tr>\n |
| 601690<\/td> | PLA2G7<\/td> | Platelet-activating factor acetylhydrolase deficiency<\/td>\n<\/tr>\n |
| 603873<\/td> | PLAA<\/td> | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies<\/td>\n<\/tr>\n |
| 613867<\/td> | PLAAT3<\/td> | Lipodystrophy, familial partial, type 9<\/td>\n<\/tr>\n |
| 603026<\/td> | PLAG1<\/td> | Adenomas, salivary gland pleomorphic, somatic; Silver-Russell syndrome 4<\/td>\n<\/tr>\n |
| 191840<\/td> | PLAU<\/td> | Quebec platelet disorder; Alzheimer disease, late-onset, susceptibility to<\/td>\n<\/tr>\n |
| 607120<\/td> | PLCB1<\/td> | Developmental and epileptic encephalopathy 12<\/td>\n<\/tr>\n |
| 604114<\/td> | PLCB2<\/td> | Platelet PLC beta-2 deficiency<\/td>\n<\/tr>\n |
| 600230<\/td> | PLCB3<\/td> | Spondylometaphyseal dysplasia with corneal dystrophy<\/td>\n<\/tr>\n |
| 600810<\/td> | PLCB4<\/td> | Auriculocondylar syndrome 2B; Auriculocondylar syndrome 2A<\/td>\n<\/tr>\n |
| 602142<\/td> | PLCD1<\/td> | Nail disorder, nonsyndromic congenital, 3, (leukonychia)<\/td>\n<\/tr>\n |
| 608414<\/td> | PLCE1<\/td> | Nephrotic syndrome, type 3<\/td>\n<\/tr>\n |
| 172420<\/td> | PLCG1<\/td> | Immune dysregulation, autoimmunity, and autoinflammation<\/td>\n<\/tr>\n |
| 600220<\/td> | PLCG2<\/td> | Autoinflammation, antibody deficiency, and immune dysregulation syndrome; Familial cold autoinflammatory syndrome 3<\/td>\n<\/tr>\n |
| 612835<\/td> | PLCH1<\/td> | Holoprosencephaly 14<\/td>\n<\/tr>\n |
| 608075<\/td> | PLCZ1<\/td> | Spermatogenic failure 17<\/td>\n<\/tr>\n |
| 602382<\/td> | PLD1<\/td> | Cardiac valvular dysplasia 1<\/td>\n<\/tr>\n |
| 615698<\/td> | PLD3<\/td> | Spinocerebellar ataxia 46<\/td>\n<\/tr>\n |
| 601282<\/td> | PLEC<\/td> | Epidermolysis bullosa simplex 5D, generalized intermediate; Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Epidermolysis bullosa simplex 5A, Ogna type; Muscular dystrophy, limb-girdle 17<\/td>\n<\/tr>\n |
| 611893<\/td> | PLEKHG2<\/td> | Leukodystrophy and acquired microcephaly with or without dystonia<\/td>\n<\/tr>\n |
| 611101<\/td> | PLEKHG5<\/td> | Neuronopathy, distal hereditary motor 4; Charcot-Marie-Tooth disease, recessive intermediate C<\/td>\n<\/tr>\n |
| 611466<\/td> | PLEKHM1<\/td> | Osteopetrosis 6; Osteopetrosis 3<\/td>\n<\/tr>\n |
| 608852<\/td> | PLF<\/td> | Pulmonary function<\/td>\n<\/tr>\n |
| 173350<\/td> | PLG<\/td> | Dysplasminogenemia; Angioedema, hereditary, 4; Plasminogen deficiency, type I<\/td>\n<\/tr>\n |
| 170290<\/td> | PLIN1<\/td> | Lipodystrophy, familial partial, type 4<\/td>\n<\/tr>\n |
| 613247<\/td> | PLIN4<\/td> | Myopathy with rimmed ubiquitin-positive autophagic vacuolation<\/td>\n<\/tr>\n |
| 605031<\/td> | PLK4<\/td> | Microcephaly and chorioretinopathy, 2<\/td>\n<\/tr>\n |
| 172405<\/td> | PLN<\/td> | Cardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18<\/td>\n<\/tr>\n |
| 153454<\/td> | PLOD1<\/td> | Ehlers-Danlos syndrome, kyphoscoliotic type, 1<\/td>\n<\/tr>\n |
| 601865<\/td> | PLOD2<\/td> | Bruck syndrome 2<\/td>\n<\/tr>\n |
| 603066<\/td> | PLOD3<\/td> | BCARD syndrome (lysyl hydroxylase 3 deficiency)<\/td>\n<\/tr>\n |
| 300401<\/td> | PLP1<\/td> | Pelizaeus-Merzbacher disease, X-linked recessive; Spastic paraplegia 2, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 604436<\/td> | PLPBP<\/td> | Epilepsy, early-onset, 1, vitamin B6-dependent<\/td>\n<\/tr>\n |
| 602734<\/td> | PLS1<\/td> | Deafness 76<\/td>\n<\/tr>\n |
| 300131<\/td> | PLS3<\/td> | Bone mineral density QTL18, osteoporosis, X-linked dominant; Diaphragmatic hernia 5, X-linked, X-linked<\/td>\n<\/tr>\n |
| 611637<\/td> | PLSA1<\/td> | Primary lateral sclerosis, adult, 1<\/td>\n<\/tr>\n |
| 607647<\/td> | PLVAP<\/td> | Diarrhea 10, protein-losing enteropathy type<\/td>\n<\/tr>\n |
| 601055<\/td> | PLXNA1<\/td> | Dworschak-Punetha neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 604282<\/td> | PLXND1<\/td> | Congenital heart defects, multiple types, 9<\/td>\n<\/tr>\n |
| 618085<\/td> | PMFBP1<\/td> | Spermatogenic failure 31<\/td>\n<\/tr>\n |
| 601785<\/td> | PMM2<\/td> | Congenital disorder of glycosylation, type Ia<\/td>\n<\/tr>\n |
| 170715<\/td> | PMP2<\/td> | Charcot-Marie-Tooth disease, demyelinating, type 1G<\/td>\n<\/tr>\n |
| 601097<\/td> | PMP22<\/td> | Charcot-Marie-Tooth disease, type 1A; Roussy-Levy syndrome; Charcot-Marie-Tooth disease, type 1E; Neuropathy, inflammatory demyelinating, Autosomal dominant; Neuropathy, recurrent, with pressure palsies; Dejerine-Sottas disease<\/td>\n<\/tr>\n |
| 613036<\/td> | PMPCA<\/td> | Spinocerebellar ataxia 2<\/td>\n<\/tr>\n |
| 603131<\/td> | PMPCB<\/td> | Multiple mitochondrial dysfunctions syndrome 6<\/td>\n<\/tr>\n |
| 600259<\/td> | PMS2<\/td> | Lynch syndrome 4; Mismatch repair cancer syndrome 4<\/td>\n<\/tr>\n |
| 607622<\/td> | PMVK<\/td> | Porokeratosis 1, multiple types<\/td>\n<\/tr>\n |
| 609023<\/td> | PNKD<\/td> | Paroxysmal nonkinesigenic dyskinesia 1<\/td>\n<\/tr>\n |
| 611147<\/td> | PNKD2<\/td> | Paroxysmal nonkinesigenic dyskinesia 2<\/td>\n<\/tr>\n |
| 605610<\/td> | PNKP<\/td> | Charcot-Marie-Tooth disease, type 2B2; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay<\/td>\n<\/tr>\n |
| 619529<\/td> | PNLDC1<\/td> | Spermatogenic failure 57<\/td>\n<\/tr>\n |
| 246600<\/td> | PNLIP<\/td> | Pancreatic lipase deficiency<\/td>\n<\/tr>\n |
| 164050<\/td> | PNP<\/td> | Immunodeficiency due to purine nucleoside phosphorylase deficiency<\/td>\n<\/tr>\n |
| 612121<\/td> | PNPLA1<\/td> | Ichthyosis, congenital 10<\/td>\n<\/tr>\n |
| 609059<\/td> | PNPLA2<\/td> | Neutral lipid storage disease with myopathy<\/td>\n<\/tr>\n |
| 603197<\/td> | PNPLA6<\/td> | Spastic paraplegia 39; Oliver-McFarlane syndrome; Laurence-Moon syndrome; Boucher-Neuhauser syndrome<\/td>\n<\/tr>\n |
| 612123<\/td> | PNPLA8<\/td> | Mitochondrial myopathy with lactic acidosis<\/td>\n<\/tr>\n |
| 603287<\/td> | PNPO<\/td> | Pyridoxamine 5′-phosphate oxidase deficiency<\/td>\n<\/tr>\n |
| 610316<\/td> | PNPT1<\/td> | Spinocerebellar ataxia 25; Deafness 70, with or without adult-onset neurodegeneration; Combined oxidative phosphorylation deficiency 13<\/td>\n<\/tr>\n |
| 614783<\/td> | POC1A<\/td> | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis<\/td>\n<\/tr>\n |
| 614784<\/td> | POC1B<\/td> | Cone-rod dystrophy 20<\/td>\n<\/tr>\n |
| 300603<\/td> | POF1B<\/td> | Premature ovarian failure 2B, X-linked recessive<\/td>\n<\/tr>\n |
| 607491<\/td> | POFUT1<\/td> | Dowling-Degos disease 2<\/td>\n<\/tr>\n |
| 615618<\/td> | POGLUT1<\/td> | Dowling-Degos disease 4; Muscular dystrophy, limb-girdle 21<\/td>\n<\/tr>\n |
| 614787<\/td> | POGZ<\/td> | White-Sutton syndrome<\/td>\n<\/tr>\n |
| 312040<\/td> | POLA1<\/td> | Pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive; Van Esch-O’Driscoll syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 174761<\/td> | POLD1<\/td> | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Immunodeficiency 120; Colorectal cancer, susceptibility to, 10<\/td>\n<\/tr>\n |
| 611415<\/td> | POLD3<\/td> | Immunodeficiency 122<\/td>\n<\/tr>\n |
| 174762<\/td> | POLE<\/td> | Colorectal cancer, susceptibility to, 12; FILS syndrome; IMAGE-I syndrome<\/td>\n<\/tr>\n |
| 174763<\/td> | POLG<\/td> | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Progressive external ophthalmoplegia 1; Progressive external ophthalmoplegia 1<\/td>\n<\/tr>\n |
| 604983<\/td> | POLG2<\/td> | Progressive external ophthalmoplegia with mitochondrial DNA deletions 4; Mitochondrial DNA depletion syndrome 16 (hepatic type); Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)<\/td>\n<\/tr>\n |
| 603968<\/td> | POLH<\/td> | Xeroderma pigmentosum, variant type<\/td>\n<\/tr>\n |
| 616404<\/td> | POLR1A<\/td> | Leukodystrophy, hypomyelinating, 27; Acrofacial dysostosis, Cincinnati type<\/td>\n<\/tr>\n |
| 602000<\/td> | POLR1B<\/td> | Treacher-Collins syndrome 4<\/td>\n<\/tr>\n |
| 610060<\/td> | POLR1C<\/td> | Leukodystrophy, hypomyelinating, 11; Treacher Collins syndrome 3<\/td>\n<\/tr>\n |
| 613715<\/td> | POLR1D<\/td> | Treacher Collins syndrome 2<\/td>\n<\/tr>\n |
| 180660<\/td> | POLR2A<\/td> | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities<\/td>\n<\/tr>\n |
| 614258<\/td> | POLR3A<\/td> | Wiedemann-Rautenstrauch syndrome; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and\/or hypogonadotropic hypogonadism<\/td>\n<\/tr>\n |
| 614366<\/td> | POLR3B<\/td> | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and\/or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, type 1I<\/td>\n<\/tr>\n |
| 617455<\/td> | POLR3F<\/td> | Immunodeficiency 101 (varicella zoster virus-specific)<\/td>\n<\/tr>\n |
| 617457<\/td> | POLR3GL<\/td> | Short stature, oligodontia, dysmorphic facies, and motor delay<\/td>\n<\/tr>\n |
| 606007<\/td> | POLR3K<\/td> | Leukodystrophy, hypomyelinating, 21<\/td>\n<\/tr>\n |
| 601778<\/td> | POLRMT<\/td> | Combined oxidative phosphorylation deficiency 55<\/td>\n<\/tr>\n |
| 176830<\/td> | POMC<\/td> | Obesity, early-onset, susceptibility to, Multifactorial; Obesity, adrenal insufficiency, and red hair due to POMC deficiency<\/td>\n<\/tr>\n |
| 606822<\/td> | POMGNT1<\/td> | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3; Retinitis pigmentosa 76; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3<\/td>\n<\/tr>\n |
| 614828<\/td> | POMGNT2<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8<\/td>\n<\/tr>\n |
| 615247<\/td> | POMK<\/td> | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12<\/td>\n<\/tr>\n |
| 613386<\/td> | POMP<\/td> | Proteasome-associated autoinflammatory syndrome 2; Keratosis linearis with ichthyosis congenita and sclerosing keratoderma<\/td>\n<\/tr>\n |
| 607423<\/td> | POMT1<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1<\/td>\n<\/tr>\n |
| 607439<\/td> | POMT2<\/td> | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2<\/td>\n<\/tr>\n |
| 168820<\/td> | PON1<\/td> | Coronary artery spasm 2, susceptibility to; Organophosphate poisoning, sensitivity to; Coronary artery disease, susceptibility to; Microvascular complications of diabetes 5<\/td>\n<\/tr>\n |
| 602447<\/td> | PON2<\/td> | Coronary artery disease, susceptibility to<\/td>\n<\/tr>\n |
| 602486<\/td> | POP1<\/td> | Anauxetic dysplasia 2<\/td>\n<\/tr>\n |
| 604577<\/td> | POPDC1<\/td> | Muscular dystrophy, limb-girdle 25<\/td>\n<\/tr>\n |
| 605824<\/td> | POPDC3<\/td> | Muscular dystrophy, limb-girdle 26<\/td>\n<\/tr>\n |
| 124015<\/td> | POR<\/td> | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome P450 oxidoreductase<\/td>\n<\/tr>\n |
| 300651<\/td> | PORCN<\/td> | Focal dermal hypoplasia, X-linked dominant<\/td>\n<\/tr>\n |
| 175850<\/td> | POROK2<\/td> | Porokeratosis 2, palmar, plantar, and disseminated<\/td>\n<\/tr>\n |
| 607728<\/td> | POROK4<\/td> | Porokeratosis 4, disseminated superficial actinic<\/td>\n<\/tr>\n |
| 612293<\/td> | POROK5<\/td> | Porokeratosis 5, disseminated superficial actinic<\/td>\n<\/tr>\n |
| 612353<\/td> | POROK6<\/td> | Porokeratosis 6, multiple types<\/td>\n<\/tr>\n |
| 606478<\/td> | POT1<\/td> | Tumor predisposition syndrome 3; Cerebroretinal microangiopathy with calcifications and cysts 3; Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 8<\/td>\n<\/tr>\n |
| 173110<\/td> | POU1F1<\/td> | Pituitary hormone deficiency, combined or isolated, 1<\/td>\n<\/tr>\n |
| 602480<\/td> | POU3F3<\/td> | Snijders Blok-Fisher syndrome<\/td>\n<\/tr>\n |
| 300039<\/td> | POU3F4<\/td> | Deafness, X-linked 2, X-linked recessive<\/td>\n<\/tr>\n |
| 601632<\/td> | POU4F1<\/td> | Ataxia, intention tremor, and hypotonia syndrome, childhood-onset<\/td>\n<\/tr>\n |
| 602460<\/td> | POU4F3<\/td> | Deafness 15\/52<\/td>\n<\/tr>\n |
| 609062<\/td> | POU6F2<\/td> | Wilms tumor susceptibility-5, Somatic mutation<\/td>\n<\/tr>\n |
| 609988<\/td> | PPA2<\/td> | Sudden cardiac failure, alcohol-induced; Sudden cardiac failure, infantile<\/td>\n<\/tr>\n |
| 601487<\/td> | PPARG<\/td> | Diabetes, type 2; Insulin resistance, severe, digenic; Lipodystrophy, familial partial, type 3; Obesity, resistance to; Obesity, severe, Multifactorial; Carotid intimal medial thickness 1<\/td>\n<\/tr>\n |
| 609853<\/td> | PPCS<\/td> | Cardiomyopathy, dilated, 2C<\/td>\n<\/tr>\n |
| 603141<\/td> | PPFIBP1<\/td> | Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities<\/td>\n<\/tr>\n |
| 123841<\/td> | PPIB<\/td> | Osteogenesis imperfecta, type IX<\/td>\n<\/tr>\n |
| 601301<\/td> | PPIL1<\/td> | Pontocerebellar hypoplasia, type 14<\/td>\n<\/tr>\n |
| 611648<\/td> | PPIP5K2<\/td> | Deafness 100<\/td>\n<\/tr>\n |
| 614936<\/td> | PPKP1B<\/td> | Keratoderma, palmoplantar, punctate type IB<\/td>\n<\/tr>\n |
| 605100<\/td> | PPM1D<\/td> | Breast cancer, somatic; Jansen-de Vries syndrome<\/td>\n<\/tr>\n |
| 611065<\/td> | PPM1K<\/td> | Maple syrup urine disease, mild variant<\/td>\n<\/tr>\n |
| 600923<\/td> | PPOX<\/td> | Variegate porphyria, childhood-onset; Variegate porphyria<\/td>\n<\/tr>\n |
| 600590<\/td> | PPP1CB<\/td> | Noonan syndrome-like disorder with loose anagen hair 2<\/td>\n<\/tr>\n |
| 602021<\/td> | PPP1R12A<\/td> | Genitourinary and\/or\/brain malformation syndrome<\/td>\n<\/tr>\n |
| 607463<\/td> | PPP1R13L<\/td> | Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities<\/td>\n<\/tr>\n |
| 613257<\/td> | PPP1R15B<\/td> | Microcephaly, short stature, and impaired glucose metabolism 2<\/td>\n<\/tr>\n |
| 604088<\/td> | PPP1R17<\/td> | Hypercholesterolemia, susceptibility to<\/td>\n<\/tr>\n |
| 618159<\/td> | PPP1R21<\/td> | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities<\/td>\n<\/tr>\n |
| 600917<\/td> | PPP1R3A<\/td> | Insulin resistance, severe, digenic<\/td>\n<\/tr>\n |
| 176915<\/td> | PPP2CA<\/td> | Houge-Janssens syndrome 3<\/td>\n<\/tr>\n |
| 605983<\/td> | PPP2R1A<\/td> | Houge-Janssens syndrome 2<\/td>\n<\/tr>\n |
| 603113<\/td> | PPP2R1B<\/td> | Lung cancer, somatic<\/td>\n<\/tr>\n |
| 604325<\/td> | PPP2R2B<\/td> | Spinocerebellar ataxia 12<\/td>\n<\/tr>\n |
| 615902<\/td> | PPP2R3C<\/td> | Spermatogenic failure 36; Myoectodermal gonadal dysgenesis syndrome<\/td>\n<\/tr>\n |
| 601646<\/td> | PPP2R5D<\/td> | Houge-Janssens syndrome 1<\/td>\n<\/tr>\n |
| 114105<\/td> | PPP3CA<\/td> | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development; Developmental and epileptic encephalopathy 91<\/td>\n<\/tr>\n |
| 132100<\/td> | PPR1<\/td> | Photoparoxysmal response 1<\/td>\n<\/tr>\n |
| 609572<\/td> | PPR2<\/td> | Photoparoxysmal response 2<\/td>\n<\/tr>\n |
| 609573<\/td> | PPR3<\/td> | Photoparoxysmal response 3<\/td>\n<\/tr>\n |
| 600722<\/td> | PPT1<\/td> | Ceroid lipofuscinosis, neuronal, 1<\/td>\n<\/tr>\n |
| 300463<\/td> | PQBP1<\/td> | Renpenning syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 261800<\/td> | PRBNS<\/td> | Pierre Robin syndrome<\/td>\n<\/tr>\n |
| 179755<\/td> | PRCC<\/td> | Renal cell carcinoma, papillary<\/td>\n<\/tr>\n |
| 610598<\/td> | PRCD<\/td> | Retinitis pigmentosa 36<\/td>\n<\/tr>\n |
| 618319<\/td> | PRDM10<\/td> | Birt-Hogg-Dube syndrome 2<\/td>\n<\/tr>\n |
| 616458<\/td> | PRDM12<\/td> | Neuropathy, hereditary sensory and autonomic, type VIII<\/td>\n<\/tr>\n |
| 616741<\/td> | PRDM13<\/td> | Pontocerebellar hypoplasia, type 17; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism<\/td>\n<\/tr>\n |
| 605557<\/td> | PRDM16<\/td> | Left ventricular noncompaction 8; Cardiomyopathy, dilated, 1LL<\/td>\n<\/tr>\n |
| 614161<\/td> | PRDM5<\/td> | Brittle cornea syndrome 2<\/td>\n<\/tr>\n |
| 616982<\/td> | PRDM6<\/td> | Patent ductus arteriosus 3<\/td>\n<\/tr>\n |
| 616639<\/td> | PRDM8<\/td> | Epilepsy, progressive myoclonic, 10<\/td>\n<\/tr>\n |
| 176763<\/td> | PRDX1<\/td> | Methylmalonic aciduria and homocystinuria, cblC type, digenic<\/td>\n<\/tr>\n |
| 604769<\/td> | PRDX3<\/td> | Spinocerebellar ataxia 32; Corneal dystrophy, punctiform and polychromatic pre-Descemet<\/td>\n<\/tr>\n |
| 609557<\/td> | PREPL<\/td> | Myasthenic syndrome, congenital, 22<\/td>\n<\/tr>\n |
| 170280<\/td> | PRF1<\/td> | Hemophagocytic lymphohistiocytosis, familial, 2; Aplastic anemia; Lymphoma, non-Hodgkin<\/td>\n<\/tr>\n |
| 604283<\/td> | PRG4<\/td> | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome<\/td>\n<\/tr>\n |
| 608500<\/td> | PRICKLE1<\/td> | Epilepsy, progressive myoclonic 1B<\/td>\n<\/tr>\n |
| 300111<\/td> | PRICKLE3<\/td> | Leber hereditary optic neuropathy, modifier of, X-linked dominant<\/td>\n<\/tr>\n |
| 176635<\/td> | PRIM1<\/td> | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome<\/td>\n<\/tr>\n |
| 615421<\/td> | PRIMPOL<\/td> | Myopia 22<\/td>\n<\/tr>\n |
| 601639<\/td> | PRKACA<\/td> | Cushing syndrome, ACTH-independent adrenal, somatic; Cardioacrofacial dysplasia 1<\/td>\n<\/tr>\n |
| 176892<\/td> | PRKACB<\/td> | Cardioacrofacial dysplasia 2, Somatic mosaicism<\/td>\n<\/tr>\n |
| 176893<\/td> | PRKACG<\/td> | Bleeding disorder, platelet-type, 19<\/td>\n<\/tr>\n |
| 602743<\/td> | PRKAG2<\/td> | Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndrome; Cardiomyopathy, hypertrophic 6<\/td>\n<\/tr>\n |
| 604976<\/td> | PRKAG3<\/td> | Skeletal muscle glycogen content and metabolism QTL<\/td>\n<\/tr>\n |
| 188830<\/td> | PRKAR1A<\/td> | Pigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1, with or without hormone resistance; Adrenocortical tumor, somatic; Carney complex, type 1; Myxoma, intracardiac<\/td>\n<\/tr>\n |
| 176911<\/td> | PRKAR1B<\/td> | Marbach-Schaaf neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 176960<\/td> | PRKCA<\/td> | Pituitary tumor, invasive<\/td>\n<\/tr>\n |
| 176977<\/td> | PRKCD<\/td> | Autoimmune lymphoproliferative syndrome, type III<\/td>\n<\/tr>\n |
| 176980<\/td> | PRKCG<\/td> | Spinocerebellar ataxia 14<\/td>\n<\/tr>\n |
| 605437<\/td> | PRKCH<\/td> | Cerebral infarction, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 177060<\/td> | PRKCSH<\/td> | Polycystic liver disease 1<\/td>\n<\/tr>\n |
| 605435<\/td> | PRKD1<\/td> | Congenital heart defects and ectodermal dysplasia<\/td>\n<\/tr>\n |
| 600899<\/td> | PRKDC<\/td> | Immunodeficiency 26, with or without neurologic abnormalities<\/td>\n<\/tr>\n |
| 176894<\/td> | PRKG1<\/td> | Aortic aneurysm, familial thoracic 8<\/td>\n<\/tr>\n |
| 601591<\/td> | PRKG2<\/td> | Spondylometaphyseal dysplasia, Pagnamenta type; Acromesomelic dysplasia 4<\/td>\n<\/tr>\n |
| 602544<\/td> | PRKN<\/td> | Adenocarcinoma of lung, somatic; Parkinson disease, juvenile, type 2; Ovarian cancer, somatic<\/td>\n<\/tr>\n |
| 603424<\/td> | PRKRA<\/td> | Dystonia 16<\/td>\n<\/tr>\n |
| 176761<\/td> | PRLR<\/td> | Multiple fibroadenomas of the breast; Hyperprolactinemia<\/td>\n<\/tr>\n |
| 610087<\/td> | PRMT7<\/td> | Short stature, brachydactyly, intellectual developmental disability, and seizures<\/td>\n<\/tr>\n |
| 176640<\/td> | PRNP<\/td> | Spongiform encephalopathy with neuropsychiatric features; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial; Kuru, susceptibility to; Cerebral amyloid angiopathy, PRNP-related; Creutzfeldt-Jakob disease<\/td>\n<\/tr>\n |
| 612283<\/td> | PROC<\/td> | Thrombophilia 3 due to protein C deficiency; Thrombophilia 3 due to protein C deficiency<\/td>\n<\/tr>\n |
| 606810<\/td> | PRODH<\/td> | Schizophrenia, susceptibility to, 4; Hyperprolinemia, type I<\/td>\n<\/tr>\n |
| 607002<\/td> | PROK2<\/td> | Hypogonadotropic hypogonadism 4 with or without anosmia<\/td>\n<\/tr>\n |
| 607123<\/td> | PROKR2<\/td> | Hypogonadotropic hypogonadism 3 with or without anosmia<\/td>\n<\/tr>\n |
| 604365<\/td> | PROM1<\/td> | Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Stargardt disease 4; Cone-rod dystrophy 12<\/td>\n<\/tr>\n |
| 601538<\/td> | PROP1<\/td> | Pituitary hormone deficiency, combined, 2<\/td>\n<\/tr>\n |
| 609947<\/td> | PRORP<\/td> | Combined oxidative phosphorylation deficiency 54<\/td>\n<\/tr>\n |
| 176880<\/td> | PROS1<\/td> | Thrombophilia 5 due to protein S deficiency; Thrombophilia 5 due to protein S deficiency<\/td>\n<\/tr>\n |
| 176895<\/td> | PROZ<\/td> | Protein Z deficiency<\/td>\n<\/tr>\n |
| 607301<\/td> | PRPF3<\/td> | Retinitis pigmentosa 18<\/td>\n<\/tr>\n |
| 606419<\/td> | PRPF31<\/td> | Retinitis pigmentosa 11<\/td>\n<\/tr>\n |
| 607795<\/td> | PRPF4<\/td> | Retinitis pigmentosa 70<\/td>\n<\/tr>\n |
| 613979<\/td> | PRPF6<\/td> | Retinitis pigmentosa 60<\/td>\n<\/tr>\n |
| 607300<\/td> | PRPF8<\/td> | Retinitis pigmentosa 13<\/td>\n<\/tr>\n |
| 170710<\/td> | PRPH<\/td> | Amyotrophic lateral sclerosis, susceptibility to<\/td>\n<\/tr>\n |
| 179605<\/td> | PRPH2<\/td> | Macular dystrophy, patterned, 1; Choroidal dystrophy, central areolar 2; Retinitis punctata albescens; Leber congenital amaurosis 18, Digenic dominant; Macular dystrophy, vitelliform, 3; Retinitis pigmentosa 7 and digenic form, Digenic dominant<\/td>\n<\/tr>\n |
| 311850<\/td> | PRPS1<\/td> | Arts syndrome, X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive; Deafness, X-linked 1, X-linked; Gout, PRPS-related, X-linked recessive<\/td>\n<\/tr>\n |
| 616633<\/td> | PRR12<\/td> | Neuroocular syndrome<\/td>\n<\/tr>\n |
| 614386<\/td> | PRRT2<\/td> | Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1<\/td>\n<\/tr>\n |
| 167420<\/td> | PRRX1<\/td> | Agnathia-otocephaly complex<\/td>\n<\/tr>\n |
| 276000<\/td> | PRSS1<\/td> | Pancreatitis, hereditary<\/td>\n<\/tr>\n |
| 606709<\/td> | PRSS12<\/td> | Intellectual developmental disorder 1<\/td>\n<\/tr>\n |
| 601564<\/td> | PRSS2<\/td> | Pancreatitis, chronic, protection against<\/td>\n<\/tr>\n |
| 613858<\/td> | PRSS56<\/td> | Microphthalmia, isolated 6<\/td>\n<\/tr>\n |
| 617413<\/td> | PRUNE1<\/td> | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies<\/td>\n<\/tr>\n |
| 605725<\/td> | PRX<\/td> | Charcot-Marie-Tooth disease, type 4F; Dejerine-Sottas disease<\/td>\n<\/tr>\n |
| 176801<\/td> | PSAP<\/td> | Combined SAP deficiency; Krabbe disease, atypical; Metachromatic leukodystrophy due to SAP-b deficiency; Gaucher disease, atypical; Parkinson disease 24, susceptibility to<\/td>\n<\/tr>\n |
| 610936<\/td> | PSAT1<\/td> | Neu-Laxova syndrome 2; Phosphoserine aminotransferase deficiency<\/td>\n<\/tr>\n |
| 613806<\/td> | PSC<\/td> | Cholangitis, primary sclerosing<\/td>\n<\/tr>\n |
| 104311<\/td> | PSEN1<\/td> | Pick disease; Dementia, frontotemporal; Acne inversa, familial, 3; Cardiomyopathy, dilated, 1U; Alzheimer disease, type 3, with or without spastic paraparesis<\/td>\n<\/tr>\n |
| 600759<\/td> | PSEN2<\/td> | Alzheimer disease-4; Cardiomyopathy, dilated, 1V<\/td>\n<\/tr>\n |
| 607632<\/td> | PSENEN<\/td> | Acne inversa, familial, 2, with or without Dowling-Degos disease<\/td>\n<\/tr>\n |
| 177015<\/td> | PSKH1<\/td> | Cholestasis, progressive familial intrahepatic, 13<\/td>\n<\/tr>\n |
| 602855<\/td> | PSMA6<\/td> | Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 602017<\/td> | PSMB1<\/td> | Neurodevelopmental disorder with microcephaly, hypotonia, and absent language<\/td>\n<\/tr>\n |
| 176847<\/td> | PSMB10<\/td> | Immunodeficiency 121 with autoinflammation; Proteasome-associated autoinflammatory syndrome 5<\/td>\n<\/tr>\n |
| 602177<\/td> | PSMB4<\/td> | Proteasome-associated autoinflammatory syndrome 3 and digenic forms<\/td>\n<\/tr>\n |
| 177046<\/td> | PSMB8<\/td> | Proteasome-associated autoinflammatory syndrome 1 and digenic forms<\/td>\n<\/tr>\n |
| 177045<\/td> | PSMB9<\/td> | Proteasome-associated autoinflammatory syndrome 6<\/td>\n<\/tr>\n |
| 602706<\/td> | PSMC1<\/td> | Birk-Aharoni syndrome<\/td>\n<\/tr>\n |
| 186852<\/td> | PSMC3<\/td> | Deafness, cataract, impaired intellectual development, and polyneuropathy<\/td>\n<\/tr>\n |
| 608665<\/td> | PSMC3IP<\/td> | Ovarian dysgenesis 3<\/td>\n<\/tr>\n |
| 604450<\/td> | PSMD12<\/td> | Stankiewicz-Isidor syndrome<\/td>\n<\/tr>\n |
| 609702<\/td> | PSMG2<\/td> | Proteasome-associated autoinflammatory syndrome 4<\/td>\n<\/tr>\n |
| 613938<\/td> | PSMNSW<\/td> | Parasomnia, sleepwalking type, Multifactorial<\/td>\n<\/tr>\n |
| 609454<\/td> | PSNP2<\/td> | Supranuclear palsy, progressive, 2<\/td>\n<\/tr>\n |
| 610898<\/td> | PSNP3<\/td> | Supranuclear palsy, progressive, 3<\/td>\n<\/tr>\n |
| 612410<\/td> | PSORS10<\/td> | Psoriasis susceptibility 10<\/td>\n<\/tr>\n |
| 612599<\/td> | PSORS11<\/td> | Psoriasis susceptibility 11<\/td>\n<\/tr>\n |
| 601454<\/td> | PSORS3<\/td> | Psoriasis susceptibility 3<\/td>\n<\/tr>\n |
| 603935<\/td> | PSORS4<\/td> | Psoriasis susceptibility 4<\/td>\n<\/tr>\n |
| 604316<\/td> | PSORS5<\/td> | Psoriasis susceptibility 5<\/td>\n<\/tr>\n |
| 605364<\/td> | PSORS6<\/td> | Psoriasis susceptibility 6<\/td>\n<\/tr>\n |
| 610707<\/td> | PSORS8<\/td> | Psoriasis susceptibility 8<\/td>\n<\/tr>\n |
| 607857<\/td> | PSORS9<\/td> | Psoriasis susceptibility 9<\/td>\n<\/tr>\n |
| 172480<\/td> | PSPH<\/td> | Phosphoserine phosphatase deficiency<\/td>\n<\/tr>\n |
| 616265<\/td> | PSS3<\/td> | Peeling skin syndrome 3<\/td>\n<\/tr>\n |
| 606347<\/td> | PSTPIP1<\/td> | Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne<\/td>\n<\/tr>\n |
| 614918<\/td> | PTCD3<\/td> | Combined oxidative phosphorylation deficiency 51<\/td>\n<\/tr>\n |
| 601309<\/td> | PTCH1<\/td> | Basal cell nevus syndrome 1; Basal cell carcinoma, somatic; Holoprosencephaly 7<\/td>\n<\/tr>\n |
| 603673<\/td> | PTCH2<\/td> | Medulloblastoma, somatic; Basal cell carcinoma, somatic<\/td>\n<\/tr>\n |
| 300828<\/td> | PTCHD1<\/td> | Autism, susceptibility to, X-linked 4, X-linked recessive<\/td>\n<\/tr>\n |
| 605642<\/td> | PTCPRN<\/td> | Thyroid carcinoma, papillary, with papillary renal neoplasia<\/td>\n<\/tr>\n |
| 606817<\/td> | PTCRA<\/td> | Immunodeficiency 126<\/td>\n<\/tr>\n |
| 612792<\/td> | PTDSS1<\/td> | Lenz-Majewski hyperostotic dwarfism<\/td>\n<\/tr>\n |
| 601728<\/td> | PTEN<\/td> | Glioma susceptibility 2; Meningioma; Cowden syndrome 1; Lhermitte-Duclos disease; Prostate cancer, somatic; Macrocephaly\/autism syndrome<\/td>\n<\/tr>\n |
| 607194<\/td> | PTF1A<\/td> | Pancreatic and cerebellar agenesis; Pancreatic agenesis 2<\/td>\n<\/tr>\n |
| 604687<\/td> | PTGDR<\/td> | Asthma, susceptibility to, 1<\/td>\n<\/tr>\n |
| 176804<\/td> | PTGER2<\/td> | Asthma, aspirin-induced, susceptibility to<\/td>\n<\/tr>\n |
| 601699<\/td> | PTGIS<\/td> | Hypertension, essential, Multifactorial<\/td>\n<\/tr>\n |
| 168450<\/td> | PTH<\/td> | Hypoparathyroidism, familial isolated 1<\/td>\n<\/tr>\n |
| 168468<\/td> | PTH1R<\/td> | Metaphyseal chondrodysplasia, Murk Jansen type; Eiken syndrome; Failure of tooth eruption, primary; Chondrodysplasia, Blomstrand type<\/td>\n<\/tr>\n |
| 168470<\/td> | PTHLH<\/td> | Brachydactyly, type E2<\/td>\n<\/tr>\n |
| 168860<\/td> | PTLAH<\/td> | Patella aplasia or hypoplasia<\/td>\n<\/tr>\n |
| 178300<\/td> | PTOS1<\/td> | Ptosis, hereditary congenital, 1<\/td>\n<\/tr>\n |
| 300245<\/td> | PTOS2<\/td> | Ptosis, hereditary congenital 2, X-linked dominant<\/td>\n<\/tr>\n |
| 600756<\/td> | PTPA<\/td> | Parkinson disease 25 early-onset, with impaired intellectual development<\/td>\n<\/tr>\n |
| 176885<\/td> | PTPN1<\/td> | Insulin resistance, susceptibility to<\/td>\n<\/tr>\n |
| 176876<\/td> | PTPN11<\/td> | Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis; Leukemia, juvenile myelomonocytic, somatic<\/td>\n<\/tr>\n |
| 600079<\/td> | PTPN12<\/td> | Colon cancer, somatic<\/td>\n<\/tr>\n |
| 603155<\/td> | PTPN14<\/td> | Choanal atresia and lymphedema<\/td>\n<\/tr>\n |
| 600716<\/td> | PTPN22<\/td> | Rheumatoid arthritis, susceptibility to; Systemic lupus erythematosus susceptibility to; Diabetes, type 1, susceptibility to<\/td>\n<\/tr>\n |
| 606584<\/td> | PTPN23<\/td> | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity<\/td>\n<\/tr>\n |
| 151460<\/td> | PTPRC<\/td> | Immunodeficiency 105, severe combined<\/td>\n<\/tr>\n |
| 179590<\/td> | PTPRF<\/td> | Breasts and\/or nipples, aplasia or hypoplasia of, 2<\/td>\n<\/tr>\n |
| 600925<\/td> | PTPRJ<\/td> | Colon cancer, somatic; Thrombocytopenia 10<\/td>\n<\/tr>\n |
| 600579<\/td> | PTPRO<\/td> | Nephrotic syndrome, type 6<\/td>\n<\/tr>\n |
| 603317<\/td> | PTPRQ<\/td> | Deafness 73; Deafness 84A<\/td>\n<\/tr>\n |
| 608625<\/td> | PTRH2<\/td> | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease<\/td>\n<\/tr>\n |
| 617342<\/td> | PTRHD1<\/td> | Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities<\/td>\n<\/tr>\n |
| 612719<\/td> | PTS<\/td> | Hyperphenylalaninemia, BH4-deficient, A<\/td>\n<\/tr>\n |
| 604819<\/td> | PUF60<\/td> | Verheij syndrome<\/td>\n<\/tr>\n |
| 607204<\/td> | PUM1<\/td> | Spinocerebellar ataxia 47; Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism<\/td>\n<\/tr>\n |
| 600473<\/td> | PURA<\/td> | Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties<\/td>\n<\/tr>\n |
| 612795<\/td> | PURAQTL1<\/td> | Polyunsaturated fatty acids plasma level QTL1<\/td>\n<\/tr>\n |
| 608109<\/td> | PUS1<\/td> | Myopathy, lactic acidosis, and sideroblastic anemia 1<\/td>\n<\/tr>\n |
| 616283<\/td> | PUS3<\/td> | Neurodevelopmental disorder with microcephaly and gray sclerae<\/td>\n<\/tr>\n |
| 616261<\/td> | PUS7<\/td> | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature<\/td>\n<\/tr>\n |
| 608098<\/td> | PVNH3<\/td> | Periventricular nodular heterotopia 3<\/td>\n<\/tr>\n |
| 176780<\/td> | PVOP1<\/td> | Pelvic organ prolapse, susceptibility to, 1<\/td>\n<\/tr>\n |
| 613088<\/td> | PVOP2<\/td> | Pelvic organ prolapse, susceptibility to, 2<\/td>\n<\/tr>\n |
| 605158<\/td> | PXDN<\/td> | Anterior segment dysgenesis 7, with sclerocornea<\/td>\n<\/tr>\n |
| 179035<\/td> | PYCR1<\/td> | Cutis laxa, type IIIB; Cutis laxa, type IIB<\/td>\n<\/tr>\n |
| 616406<\/td> | PYCR2<\/td> | Leukodystrophy, hypomyelinating, 10<\/td>\n<\/tr>\n |
| 613741<\/td> | PYGL<\/td> | Glycogen storage disease VI<\/td>\n<\/tr>\n |
| 608455<\/td> | PYGM<\/td> | McArdle disease<\/td>\n<\/tr>\n |
| 617220<\/td> | PYROXD1<\/td> | Myopathy, myofibrillar, 8<\/td>\n<\/tr>\n |
| 603727<\/td> | QARS1<\/td> | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy<\/td>\n<\/tr>\n |
| 612676<\/td> | QDPR<\/td> | Hyperphenylalaninemia, BH4-deficient, C<\/td>\n<\/tr>\n |
| 617387<\/td> | QRICH1<\/td> | Ververi-Brady syndrome<\/td>\n<\/tr>\n |
| 618304<\/td> | QRICH2<\/td> | Spermatogenic failure 35<\/td>\n<\/tr>\n |
| 617209<\/td> | QRSL1<\/td> | Combined oxidative phosphorylation deficiency 40<\/td>\n<\/tr>\n |
| 610141<\/td> | QTV<\/td> | QT interval, variation in<\/td>\n<\/tr>\n |
| 604198<\/td> | RAB11B<\/td> | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter<\/td>\n<\/tr>\n |
| 602207<\/td> | RAB18<\/td> | Warburg micro syndrome 3<\/td>\n<\/tr>\n |
| 606144<\/td> | RAB23<\/td> | Carpenter syndrome<\/td>\n<\/tr>\n |
| 603868<\/td> | RAB27A<\/td> | Griscelli syndrome, type 2<\/td>\n<\/tr>\n |
| 612994<\/td> | RAB28<\/td> | Cone-rod dystrophy 18<\/td>\n<\/tr>\n |
| 612906<\/td> | RAB32<\/td> | Parkinson disease 26, susceptibility to<\/td>\n<\/tr>\n |
| 605950<\/td> | RAB33B<\/td> | Smith-McCort dysplasia 2<\/td>\n<\/tr>\n |
| 610917<\/td> | RAB34<\/td> | Orofaciodigital syndrome XX<\/td>\n<\/tr>\n |
| 300774<\/td> | RAB39B<\/td> | Intellectual developmental disorder, X-linked 72, X-linked recessive; Waisman syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 602536<\/td> | RAB3GAP1<\/td> | Martsolf syndrome 2; Warburg micro syndrome 1<\/td>\n<\/tr>\n |
| 609275<\/td> | RAB3GAP2<\/td> | Martsolf syndrome 1; Warburg micro syndrome 2<\/td>\n<\/tr>\n |
| 619960<\/td> | RAB5IF<\/td> | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2<\/td>\n<\/tr>\n |
| 602298<\/td> | RAB7A<\/td> | Charcot-Marie-Tooth disease, type 2B<\/td>\n<\/tr>\n |
| 618542<\/td> | RABL3<\/td> | Pancreatic cancer, susceptibility to, 5<\/td>\n<\/tr>\n |
| 602048<\/td> | RAC1<\/td> | Intellectual developmental disorder 48<\/td>\n<\/tr>\n |
| 602049<\/td> | RAC2<\/td> | Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis; Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia<\/td>\n<\/tr>\n |
| 602050<\/td> | RAC3<\/td> | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies<\/td>\n<\/tr>\n |
| 604980<\/td> | RACGAP1<\/td> | Anemia, congenital dyserythropoietic, type IIIb<\/td>\n<\/tr>\n |
| 606462<\/td> | RAD21<\/td> | Cornelia de Lange syndrome 4; Mungan syndrome<\/td>\n<\/tr>\n |
| 604040<\/td> | RAD50<\/td> | Nijmegen breakage syndrome-like disorder<\/td>\n<\/tr>\n |
| 179617<\/td> | RAD51<\/td> | Mirror movements 2; Breast cancer, susceptibility to, Somatic mutation; Fanconi anemia, complementation group R<\/td>\n<\/tr>\n |
| 602774<\/td> | RAD51C<\/td> | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia, complementation group O<\/td>\n<\/tr>\n |
| 602954<\/td> | RAD51D<\/td> | Breast-ovarian cancer, familial, susceptibility to, 4<\/td>\n<\/tr>\n |
| 604289<\/td> | RAD54B<\/td> | Colon cancer, somatic; Lymphoma, non-Hodgkin, somatic<\/td>\n<\/tr>\n |
| 603615<\/td> | RAD54L<\/td> | Breast cancer, invasive ductal, Somatic mutation; Adenocarcinoma, colonic, somatic; Lymphoma, non-Hodgkin, somatic<\/td>\n<\/tr>\n |
| 164760<\/td> | RAF1<\/td> | Cardiomyopathy, dilated, 1NN; Noonan syndrome 5; LEOPARD syndrome 2<\/td>\n<\/tr>\n |
| 179615<\/td> | RAG1<\/td> | Omenn syndrome; Severe combined immunodeficiency, B cell-negative; Combined cellular and humoral immune defects with granulomas; Alpha\/beta T-cell lymphopenia with gamma\/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity<\/td>\n<\/tr>\n |
| 179616<\/td> | RAG2<\/td> | Severe combined immunodeficiency, B cell-negative; Combined cellular and humoral immune defects with granulomas; Omenn syndrome<\/td>\n<\/tr>\n |
| 607642<\/td> | RAI1<\/td> | Smith-Magenis syndrome, Isolated cases<\/td>\n<\/tr>\n |
| 179550<\/td> | RALA<\/td> | Hiatt-Neu-Cooper neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 608884<\/td> | RALGAPA1<\/td> | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation<\/td>\n<\/tr>\n |
| 601181<\/td> | RANBP2<\/td> | Encephalopathy, acute, infection-induced, 3, susceptibility to<\/td>\n<\/tr>\n |
| 179530<\/td> | RAP1B<\/td> | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies<\/td>\n<\/tr>\n |
| 179502<\/td> | RAP1GDS1<\/td> | Alfadhel syndrome<\/td>\n<\/tr>\n |
| 609530<\/td> | RAPGEF2<\/td> | Epilepsy, familial adult myoclonic, 7<\/td>\n<\/tr>\n |
| 601592<\/td> | RAPSN<\/td> | Fetal akinesia deformation sequence 2; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency<\/td>\n<\/tr>\n |
| 180240<\/td> | RARA<\/td> | Leukemia, acute promyelocytic<\/td>\n<\/tr>\n |
| 180220<\/td> | RARB<\/td> | Microphthalmia, syndromic 12<\/td>\n<\/tr>\n |
| 107820<\/td> | RARS1<\/td> | Leukodystrophy, hypomyelinating, 9<\/td>\n<\/tr>\n |
| 611524<\/td> | RARS2<\/td> | Pontocerebellar hypoplasia, type 6<\/td>\n<\/tr>\n |
| 139150<\/td> | RASA1<\/td> | Capillary malformation-arteriovenous malformation 1; Basal cell carcinoma, somatic<\/td>\n<\/tr>\n |
| 603962<\/td> | RASGRP1<\/td> | Immunodeficiency 64<\/td>\n<\/tr>\n |
| 605577<\/td> | RASGRP2<\/td> | Bleeding disorder, platelet-type, 18<\/td>\n<\/tr>\n |
| 601881<\/td> | RAX<\/td> | Microphthalmia, syndromic 16<\/td>\n<\/tr>\n |
| 610362<\/td> | RAX2<\/td> | Retinitis pigmentosa 95; Cone-rod dystrophy 11; Macular degeneration, age-related, 6<\/td>\n<\/tr>\n |
| 614041<\/td> | RB1<\/td> | Small cell cancer of the lung, somatic; Bladder cancer, somatic; Retinoblastoma, trilateral, Somatic mutation; Osteosarcoma, somatic; Retinoblastoma, Somatic mutation<\/td>\n<\/tr>\n |
| 606837<\/td> | RB1CC1<\/td> | Breast cancer, somatic<\/td>\n<\/tr>\n |
| 604124<\/td> | RBBP8<\/td> | Seckel syndrome 2; Jawad syndrome; Pancreatic carcinoma, somatic<\/td>\n<\/tr>\n |
| 610924<\/td> | RBCK1<\/td> | Polyglucosan body myopathy 1 with or without immunodeficiency<\/td>\n<\/tr>\n |
| 180203<\/td> | RBL2<\/td> | Brunet-Wagner neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 300080<\/td> | RBM10<\/td> | TARP syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 607179<\/td> | RBM12<\/td> | Schizophrenia 19, susceptibility to<\/td>\n<\/tr>\n |
| 613171<\/td> | RBM20<\/td> | Cardiomyopathy, dilated, 1DD<\/td>\n<\/tr>\n |
| 612074<\/td> | RBM28<\/td> | Alopecia, neurologic defects, and endocrinopathy syndrome<\/td>\n<\/tr>\n |
| 605313<\/td> | RBM8A<\/td> | Thrombocytopenia-absent radius syndrome<\/td>\n<\/tr>\n |
| 300199<\/td> | RBMX<\/td> | Intellectual developmental disorder, X-linked syndromic, Gustavson type, X-linked recessive; Intellectual developmental disorder, X-linked syndromic, Shashi type, X-linked recessive<\/td>\n<\/tr>\n |
| 180290<\/td> | RBP3<\/td> | Retinitis pigmentosa 66<\/td>\n<\/tr>\n |
| 180250<\/td> | RBP4<\/td> | Microphthalmia\/coloboma 10; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome<\/td>\n<\/tr>\n |
| 147183<\/td> | RBPJ<\/td> | Adams-Oliver syndrome 3<\/td>\n<\/tr>\n |
| 609511<\/td> | RBSN<\/td> | Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities; Kariminejad-Reversade neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 609424<\/td> | RC3H1<\/td> | Immune dysregulation and systemic hyperinflammation syndrome<\/td>\n<\/tr>\n |
| 607867<\/td> | RCBTB1<\/td> | Retinal dystrophy with or without extraocular anomalies<\/td>\n<\/tr>\n |
| 180020<\/td> | RCD1<\/td> | Retinal cone dystrophy-1<\/td>\n<\/tr>\n |
| 609578<\/td> | RCM2<\/td> | Cardiomyopathy, familial restrictive, 2<\/td>\n<\/tr>\n |
| 180040<\/td> | RD3<\/td> | Leber congenital amaurosis 12<\/td>\n<\/tr>\n |
| 607849<\/td> | RDH11<\/td> | Retinal dystrophy, juvenile cataracts, and short stature syndrome<\/td>\n<\/tr>\n |
| 608830<\/td> | RDH12<\/td> | Leber congenital amaurosis 13<\/td>\n<\/tr>\n |
| 601617<\/td> | RDH5<\/td> | Fundus albipunctatus<\/td>\n<\/tr>\n |
| 179410<\/td> | RDX<\/td> | Deafness 24<\/td>\n<\/tr>\n |
| 618421<\/td> | REC114<\/td> | Oocyte\/zygote\/embryo maturation arrest 10<\/td>\n<\/tr>\n |
| 600537<\/td> | RECQL<\/td> | RECON progeroid syndrome<\/td>\n<\/tr>\n |
| 603780<\/td> | RECQL4<\/td> | Baller-Gerold syndrome; Rothmund-Thomson syndrome, type 2; RAPADILINO syndrome<\/td>\n<\/tr>\n |
| 609139<\/td> | REEP1<\/td> | Neuronopathy, distal hereditary motor 6; Spastic paraplegia 31; Neuronopathy, distal hereditary motor 12<\/td>\n<\/tr>\n |
| 609347<\/td> | REEP2<\/td> | Spastic paraplegia 72A; Spastic paraplegia 72B<\/td>\n<\/tr>\n |
| 609346<\/td> | REEP6<\/td> | Retinitis pigmentosa 77<\/td>\n<\/tr>\n |
| 164910<\/td> | REL<\/td> | Immunodeficiency 92<\/td>\n<\/tr>\n |
| 164014<\/td> | RELA<\/td> | Autoinflammatory disease, familial, Behcet-like-3<\/td>\n<\/tr>\n |
| 604758<\/td> | RELB<\/td> | Immunodeficiency 53<\/td>\n<\/tr>\n |
| 600514<\/td> | RELN<\/td> | Epilepsy, familial temporal lobe, 7; Lissencephaly 2 (Norman-Roberts type)<\/td>\n<\/tr>\n |
| 611211<\/td> | RELT<\/td> | Amelogenesis imperfecta, type IIIC<\/td>\n<\/tr>\n |
| 179820<\/td> | REN<\/td> | Renal tubular dysgenesis; Hyperproreninemia; Tubulointerstitial kidney disease, 4<\/td>\n<\/tr>\n |
| 614825<\/td> | REPS1<\/td> | Neurodegeneration with brain iron accumulation 7<\/td>\n<\/tr>\n |
| 605226<\/td> | RERE<\/td> | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart<\/td>\n<\/tr>\n |
| 600571<\/td> | REST<\/td> | Deafness 27; Wilms tumor 6, susceptibility to; Fibromatosis, gingival, 5<\/td>\n<\/tr>\n |
| 164761<\/td> | RET<\/td> | Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia IIA; Hirschsprung disease, protection against; Medullary thyroid carcinoma; Pheochromocytoma; Multiple endocrine neoplasia IIB<\/td>\n<\/tr>\n |
| 605565<\/td> | RETN<\/td> | Hypertension, insulin resistance-related, susceptibility to; Diabetes mellitus, noninsulin-dependent, susceptibility to<\/td>\n<\/tr>\n |
| 613114<\/td> | RETREG1<\/td> | Neuropathy, hereditary sensory and autonomic, type IIB<\/td>\n<\/tr>\n |
| 102579<\/td> | RFC1<\/td> | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome<\/td>\n<\/tr>\n |
| 161900<\/td> | RFH1<\/td> | Nephropathy-hypertension<\/td>\n<\/tr>\n |
| 611908<\/td> | RFT1<\/td> | Congenital disorder of glycosylation, type In<\/td>\n<\/tr>\n |
| 614151<\/td> | RFWD3<\/td> | Fanconi anemia, complementation group W<\/td>\n<\/tr>\n |
| 601863<\/td> | RFX5<\/td> | MHC class II deficiency 5; MHC class II deficiency 3<\/td>\n<\/tr>\n |
| 612659<\/td> | RFX6<\/td> | Mitchell-Riley syndrome<\/td>\n<\/tr>\n |
| 612660<\/td> | RFX7<\/td> | Intellectual developmental disorder 71, with behavioral abnormalities<\/td>\n<\/tr>\n |
| 603200<\/td> | RFXANK<\/td> | MHC class II deficiency 2<\/td>\n<\/tr>\n |
| 601861<\/td> | RFXAP<\/td> | MHC class II deficiency 4<\/td>\n<\/tr>\n |
| 600342<\/td> | RGR<\/td> | Retinitis pigmentosa 44<\/td>\n<\/tr>\n |
| 603276<\/td> | RGS5<\/td> | Blood pressure regulation QTL, Multifactorial<\/td>\n<\/tr>\n |
| 604067<\/td> | RGS9<\/td> | Prolonged electroretinal response suppression 1<\/td>\n<\/tr>\n |
| 607814<\/td> | RGS9BP<\/td> | Prolonged electroretinal response suppression 2<\/td>\n<\/tr>\n |
| 180297<\/td> | RHAG<\/td> | Overhydrated hereditary stomatocytosis; Anemia, hemolytic, Rh-null, regulator type<\/td>\n<\/tr>\n |
| 614404<\/td> | RHBDF2<\/td> | Tylosis with esophageal cancer<\/td>\n<\/tr>\n |
| 111700<\/td> | RHCE<\/td> | Rh-null disease, amorph type<\/td>\n<\/tr>\n |
| 111680<\/td> | RHD<\/td> | Hemolytic disease of fetus and newborn, RH-induced, Isolated cases; Blood group, RH system<\/td>\n<\/tr>\n |
| 180380<\/td> | RHO<\/td> | Night blindness, congenital stationary 1; Retinitis pigmentosa 4 or recessive; Retinitis punctata albescens<\/td>\n<\/tr>\n |
| 165390<\/td> | RHOA<\/td> | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic<\/td>\n<\/tr>\n |
| 607352<\/td> | RHOBTB2<\/td> | Developmental and epileptic encephalopathy 64<\/td>\n<\/tr>\n |
| 602037<\/td> | RHOH<\/td> | Epidermodysplasia verruciformis, susceptibility to, 4<\/td>\n<\/tr>\n |
| 610354<\/td> | RIC1<\/td> | CATIFA syndrome<\/td>\n<\/tr>\n |
| 601499<\/td> | RIEG2<\/td> | Rieger syndrome, type 2<\/td>\n<\/tr>\n |
| 609631<\/td> | RIGI<\/td> | Singleton-Merten syndrome 2<\/td>\n<\/tr>\n |
| 614092<\/td> | RILPL1<\/td> | Oculopharyngodistal myopathy 4<\/td>\n<\/tr>\n |
| 606630<\/td> | RIMS2<\/td> | Cone-rod synaptic disorder syndrome, congenital nonprogressive<\/td>\n<\/tr>\n |
| 610222<\/td> | RIN2<\/td> | Macrocephaly, alopecia, cutis laxa, and scoliosis<\/td>\n<\/tr>\n |
| 610089<\/td> | RINT1<\/td> | Infantile liver failure syndrome 3<\/td>\n<\/tr>\n |
| 603453<\/td> | RIPK1<\/td> | Immunodeficiency 57 with autoinflammation; Autoinflammation with episodic fever and lymphadenopathy<\/td>\n<\/tr>\n |
| 605706<\/td> | RIPK4<\/td> | CHAND syndrome; Popliteal pterygium syndrome, Bartsocas-Papas type 1<\/td>\n<\/tr>\n |
| 611410<\/td> | RIPOR2<\/td> | Deafness 21; Deafness 104<\/td>\n<\/tr>\n |
| 609891<\/td> | RIPPLY2<\/td> | Spondylocostal dysostosis 6<\/td>\n<\/tr>\n |
| 609591<\/td> | RIT1<\/td> | Noonan syndrome 8<\/td>\n<\/tr>\n |
| 180090<\/td> | RLBP1<\/td> | Bothnia retinal dystrophy; Newfoundland rod-cone dystrophy; Retinitis punctata albescens; Fundus albipunctatus<\/td>\n<\/tr>\n |
| 300379<\/td> | RLIM<\/td> | Tonne-Kalscheuer syndrome, X-linked<\/td>\n<\/tr>\n |
| 102300<\/td> | RLS1<\/td> | Restless legs syndrome 1<\/td>\n<\/tr>\n |
| 608831<\/td> | RLS2<\/td> | Restless legs syndrome 2<\/td>\n<\/tr>\n |
| 610438<\/td> | RLS3<\/td> | Restless legs syndrome 3<\/td>\n<\/tr>\n |
| 610439<\/td> | RLS4<\/td> | Restless legs syndrome 4<\/td>\n<\/tr>\n |
| 611242<\/td> | RLS5<\/td> | Restless legs syndrome 5<\/td>\n<\/tr>\n |
| 611185<\/td> | RLS6<\/td> | Restless legs syndrome 6<\/td>\n<\/tr>\n |
| 612853<\/td> | RLS7<\/td> | Restless legs syndrome 7<\/td>\n<\/tr>\n |
| 615197<\/td> | RLS8<\/td> | Restless legs syndrome 8<\/td>\n<\/tr>\n |
| 600332<\/td> | RMD1<\/td> | Rippling muscle disease-1<\/td>\n<\/tr>\n |
| 614917<\/td> | RMND1<\/td> | Combined oxidative phosphorylation deficiency 11<\/td>\n<\/tr>\n |
| 157660<\/td> | RMRP<\/td> | Anauxetic dysplasia 1; Metaphyseal dysplasia without hypotrichosis; Cartilage-hair hypoplasia<\/td>\n<\/tr>\n |
| 604123<\/td> | RNASEH1<\/td> | Progressive external ophthalmoplegia with mitochondrial DNA deletions 2<\/td>\n<\/tr>\n |
| 606034<\/td> | RNASEH2A<\/td> | Aicardi-Goutieres syndrome 4<\/td>\n<\/tr>\n |
| 610326<\/td> | RNASEH2B<\/td> | Aicardi-Goutieres syndrome 2<\/td>\n<\/tr>\n |
| 610330<\/td> | RNASEH2C<\/td> | Aicardi-Goutieres syndrome 3<\/td>\n<\/tr>\n |
| 180435<\/td> | RNASEL<\/td> | Prostate cancer 1<\/td>\n<\/tr>\n |
| 612944<\/td> | RNASET2<\/td> | Leukoencephalopathy, cystic, without megalencephaly<\/td>\n<\/tr>\n |
| 300951<\/td> | RNF113A<\/td> | Trichothiodystrophy 5, nonphotosensitive, X-linked<\/td>\n<\/tr>\n |
| 610432<\/td> | RNF125<\/td> | Tenorio syndrome<\/td>\n<\/tr>\n |
| 609247<\/td> | RNF13<\/td> | Developmental and epileptic encephalopathy 73<\/td>\n<\/tr>\n |
| 603046<\/td> | RNF139<\/td> | Renal cell carcinoma<\/td>\n<\/tr>\n |
| 612688<\/td> | RNF168<\/td> | RIDDLE syndrome<\/td>\n<\/tr>\n |
| 614649<\/td> | RNF170<\/td> | Ataxia, sensory, 1; Spastic paraplegia 85<\/td>\n<\/tr>\n |
| 608985<\/td> | RNF2<\/td> | Luo-Schoch-Yamamoto syndrome<\/td>\n<\/tr>\n |
| 612041<\/td> | RNF212<\/td> | Spermatogenic failure 62; Recombination rate QTL 1<\/td>\n<\/tr>\n |
| 613768<\/td> | RNF213<\/td> | Moyamoya disease 2, susceptibility to<\/td>\n<\/tr>\n |
| 609948<\/td> | RNF216<\/td> | Cerebellar ataxia and hypogonadotropic hypogonadism<\/td>\n<\/tr>\n |
| 616136<\/td> | RNF220<\/td> | Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy<\/td>\n<\/tr>\n |
| 612487<\/td> | RNF31<\/td> | Immunodeficiency 115 with autoinflammation<\/td>\n<\/tr>\n |
| 612482<\/td> | RNF43<\/td> | Sessile serrated polyposis cancer syndrome<\/td>\n<\/tr>\n |
| 604242<\/td> | RNF6<\/td> | Esophageal carcinoma, somatic<\/td>\n<\/tr>\n |
| 173320<\/td> | RNH1<\/td> | Encephalopathy, acute, infection-induced, susceptibility to, 12<\/td>\n<\/tr>\n |
| 618016<\/td> | RNPC3<\/td> | Pituitary hormone deficiency, combined or isolated, 7<\/td>\n<\/tr>\n |
| 620204<\/td> | RNU12<\/td> | CDAGS syndrome; Spinocerebellar ataxia 33<\/td>\n<\/tr>\n |
| 620823<\/td> | RNU4-2<\/td> | ReNU syndrome<\/td>\n<\/tr>\n |
| 601428<\/td> | RNU4ATAC<\/td> | Roifman syndrome; Lowry-Wood syndrome; Microcephalic osteodysplastic primordial dwarfism, type I<\/td>\n<\/tr>\n |
| 617876<\/td> | RNU7-1<\/td> | Aicardi-Goutieres syndrome 9<\/td>\n<\/tr>\n |
| 602430<\/td> | ROBO1<\/td> | Pituitary hormone deficiency, combined or isolated, 8; Neurooculorenal syndrome; Nystagmus 8, congenital<\/td>\n<\/tr>\n |
| 602431<\/td> | ROBO2<\/td> | Vesicoureteral reflux 2<\/td>\n<\/tr>\n |
| 608630<\/td> | ROBO3<\/td> | Gaze palsy, familial horizontal, with progressive scoliosis, 1<\/td>\n<\/tr>\n |
| 607528<\/td> | ROBO4<\/td> | Aortic valve disease 3<\/td>\n<\/tr>\n |
| 614574<\/td> | ROGDI<\/td> | Kohlschutter-Tonz syndrome<\/td>\n<\/tr>\n |
| 180721<\/td> | ROM1<\/td> | Retinitis pigmentosa 7, digenic form, Digenic dominant<\/td>\n<\/tr>\n |
| 602336<\/td> | ROR1<\/td> | Deafness 108<\/td>\n<\/tr>\n |
| 602337<\/td> | ROR2<\/td> | Brachydactyly, type B1; Robinow syndrome<\/td>\n<\/tr>\n |
| 600825<\/td> | RORA<\/td> | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia<\/td>\n<\/tr>\n |
| 601972<\/td> | RORB<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 15<\/td>\n<\/tr>\n |
| 602943<\/td> | RORC<\/td> | Immunodeficiency 42<\/td>\n<\/tr>\n |
| 603937<\/td> | RP1<\/td> | Retinitis pigmentosa 1<\/td>\n<\/tr>\n |
| 608581<\/td> | RP1L1<\/td> | Occult macular dystrophy; Retinitis pigmentosa 88<\/td>\n<\/tr>\n |
| 300757<\/td> | RP2<\/td> | Retinitis pigmentosa 2, X-linked<\/td>\n<\/tr>\n |
| 602594<\/td> | RP22<\/td> | Retinitis pigmentosa 22<\/td>\n<\/tr>\n |
| 300155<\/td> | RP24<\/td> | Retinitis pigmentosa 24<\/td>\n<\/tr>\n |
| 612165<\/td> | RP29<\/td> | Retinitis pigmentosa 29<\/td>\n<\/tr>\n |
| 300605<\/td> | RP34<\/td> | Retinitis pigmentosa 34<\/td>\n<\/tr>\n |
| 312612<\/td> | RP6<\/td> | Retinitis pigmentosa, X-linked recessive, 6, X-linked<\/td>\n<\/tr>\n |
| 614494<\/td> | RP63<\/td> | Retinitis pigmentosa 63<\/td>\n<\/tr>\n |
| 607331<\/td> | RP9<\/td> | Retinitis pigmentosa 9<\/td>\n<\/tr>\n |
| 179835<\/td> | RPA1<\/td> | Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 6<\/td>\n<\/tr>\n |
| 180069<\/td> | RPE65<\/td> | Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement; Leber congenital amaurosis 2<\/td>\n<\/tr>\n |
| 312610<\/td> | RPGR<\/td> | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, X-linked; Cone-rod dystrophy, X-linked, 1, X-linked recessive; Retinitis pigmentosa 3, X-linked; Macular degeneration, X-linked atrophic, X-linked recessive<\/td>\n<\/tr>\n |
| 605446<\/td> | RPGRIP1<\/td> | Cone-rod dystrophy 13; Leber congenital amaurosis 6<\/td>\n<\/tr>\n |
| 610937<\/td> | RPGRIP1L<\/td> | Joubert syndrome 7; Meckel syndrome 5; COACH syndrome 3<\/td>\n<\/tr>\n |
| 180430<\/td> | RPIA<\/td> | Ribose 5-phosphate isomerase deficiency<\/td>\n<\/tr>\n |
| 312173<\/td> | RPL10<\/td> | Autism, susceptibility to, X-linked 5; Intellectual developmental disorder, X-linked syndromic 35, X-linked recessive<\/td>\n<\/tr>\n |
| 619655<\/td> | RPL10L<\/td> | Spermatogenic failure 63<\/td>\n<\/tr>\n |
| 604175<\/td> | RPL11<\/td> | Diamond-Blackfan anemia 7<\/td>\n<\/tr>\n |
| 113703<\/td> | RPL13<\/td> | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type<\/td>\n<\/tr>\n |
| 604174<\/td> | RPL15<\/td> | Diamond-Blackfan anemia 12<\/td>\n<\/tr>\n |
| 604179<\/td> | RPL18<\/td> | Diamond-Blackfan anemia 18<\/td>\n<\/tr>\n |
| 603636<\/td> | RPL21<\/td> | Hypotrichosis 12<\/td>\n<\/tr>\n |
| 603704<\/td> | RPL26<\/td> | Diamond-Blackfan anemia 11<\/td>\n<\/tr>\n |
| 607526<\/td> | RPL27<\/td> | Diamond-Blackfan anemia 16<\/td>\n<\/tr>\n |
| 618315<\/td> | RPL35<\/td> | Diamond-Blackfan anemia 19<\/td>\n<\/tr>\n |
| 180468<\/td> | RPL35A<\/td> | Diamond-Blackfan anemia 5<\/td>\n<\/tr>\n |
| 617416<\/td> | RPL3L<\/td> | Cardiomyopathy, dilated, 2D<\/td>\n<\/tr>\n |
| 603634<\/td> | RPL5<\/td> | Diamond-Blackfan anemia 6<\/td>\n<\/tr>\n |
| 603632<\/td> | RPS10<\/td> | Diamond-Blackfan anemia 9<\/td>\n<\/tr>\n |
| 130620<\/td> | RPS14<\/td> | Macrocytic anemia, refractory, due to 5q deletion, somatic<\/td>\n<\/tr>\n |
| 603674<\/td> | RPS15A<\/td> | Diamond-Blackfan anemia 20<\/td>\n<\/tr>\n |
| 180472<\/td> | RPS17<\/td> | Diamond-Blackfan anemia 4<\/td>\n<\/tr>\n |
| 603474<\/td> | RPS19<\/td> | Diamond-Blackfan anemia 1<\/td>\n<\/tr>\n |
| 603683<\/td> | RPS23<\/td> | Brachycephaly, trichomegaly, and developmental delay<\/td>\n<\/tr>\n |
| 602412<\/td> | RPS24<\/td> | Diamond-blackfan anemia 3<\/td>\n<\/tr>\n |
| 603701<\/td> | RPS26<\/td> | Diamond-Blackfan anemia 10<\/td>\n<\/tr>\n |
| 603702<\/td> | RPS27<\/td> | Diamond-Blackfan anemia 17<\/td>\n<\/tr>\n |
| 603685<\/td> | RPS28<\/td> | Diamond Blackfan anemia 15 with mandibulofacial dysostosis<\/td>\n<\/tr>\n |
| 603633<\/td> | RPS29<\/td> | Diamond-Blackfan anemia 13<\/td>\n<\/tr>\n |
| 300075<\/td> | RPS6KA3<\/td> | Intellectual developmental disorder, X-linked 19, X-linked dominant; Coffin-Lowry syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 603658<\/td> | RPS7<\/td> | Diamond-Blackfan anemia 8<\/td>\n<\/tr>\n |
| 150370<\/td> | RPSA<\/td> | Asplenia, isolated congenital<\/td>\n<\/tr>\n |
| 400004<\/td> | RPY<\/td> | Retinitis pigmentosa, Y-linked, Y-linked<\/td>\n<\/tr>\n |
| 608267<\/td> | RRAGC<\/td> | Long-Olsen-Distelmaier syndrome<\/td>\n<\/tr>\n |
| 608268<\/td> | RRAGD<\/td> | Hypomagnesemia 7, renal, with or without dilated cardiomyopathy<\/td>\n<\/tr>\n |
| 600098<\/td> | RRAS2<\/td> | Ovarian carcinoma; Noonan syndrome 12<\/td>\n<\/tr>\n |
| 300378<\/td> | RRDX<\/td> | Radial ray deficiency<\/td>\n<\/tr>\n |
| 609116<\/td> | RRIS<\/td> | Respiratory rhythmicity in sleep<\/td>\n<\/tr>\n |
| 180410<\/td> | RRM1<\/td> | Progressive external ophthalmoplegia with mitochondrial DNA deletions 6<\/td>\n<\/tr>\n |
| 604712<\/td> | RRM2B<\/td> | Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions 5<\/td>\n<\/tr>\n |
| 619449<\/td> | RRP7A<\/td> | Microcephaly 28, primary<\/td>\n<\/tr>\n |
| 300839<\/td> | RS1<\/td> | Retinoschisis, X-linked recessive<\/td>\n<\/tr>\n |
| 605463<\/td> | RSCIS<\/td> | Radiation sensitivity\/chromosome instability syndrome<\/td>\n<\/tr>\n |
| 609314<\/td> | RSPH1<\/td> | Ciliary dyskinesia, primary, 24<\/td>\n<\/tr>\n |
| 615876<\/td> | RSPH3<\/td> | Ciliary dyskinesia, primary, 32<\/td>\n<\/tr>\n |
| 612647<\/td> | RSPH4A<\/td> | Ciliary dyskinesia, primary, 11<\/td>\n<\/tr>\n |
| 612648<\/td> | RSPH9<\/td> | Ciliary dyskinesia, primary, 12<\/td>\n<\/tr>\n |
| 609595<\/td> | RSPO1<\/td> | Palmoplantar hyperkeratosis and true hermaphroditism; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal<\/td>\n<\/tr>\n |
| 610575<\/td> | RSPO2<\/td> | Humerofemoral hypoplasia with radiotibial ray deficiency; Tetraamelia syndrome 2<\/td>\n<\/tr>\n |
| 610573<\/td> | RSPO4<\/td> | Anonychia congenita<\/td>\n<\/tr>\n |
| 616585<\/td> | RSPRY1<\/td> | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type<\/td>\n<\/tr>\n |
| 613352<\/td> | RSRC1<\/td> | Intellectual developmental disorder 70<\/td>\n<\/tr>\n |
| 608833<\/td> | RTEL1<\/td> | Dyskeratosis congenita 4; Dyskeratosis congenita 5; Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 3<\/td>\n<\/tr>\n |
| 603183<\/td> | RTN2<\/td> | Neuronopathy, distal hereditary motor 11, with spasticity; Spastic paraplegia 12<\/td>\n<\/tr>\n |
| 610502<\/td> | RTN4IP1<\/td> | Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures<\/td>\n<\/tr>\n |
| 605566<\/td> | RTN4R<\/td> | Schizophrenia, susceptibility to<\/td>\n<\/tr>\n |
| 610436<\/td> | RTTN<\/td> | Microcephaly, short stature, and polymicrogyria with seizures<\/td>\n<\/tr>\n |
| 613516<\/td> | RUBCN<\/td> | Spinocerebellar ataxia 15<\/td>\n<\/tr>\n |
| 151385<\/td> | RUNX1<\/td> | Platelet disorder, familial, with associated myeloid malignancy; Leukemia, acute myeloid, Somatic mutation<\/td>\n<\/tr>\n |
| 600211<\/td> | RUNX2<\/td> | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; Cleidocranial dysplasia, forme fruste, with brachydactyly; Cleidocranial dysplasia, forme fruste, dental anomalies only; Cleidocranial dysplasia<\/td>\n<\/tr>\n |
| 611053<\/td> | RUSC2<\/td> | Intellectual developmental disorder 61<\/td>\n<\/tr>\n |
| 179450<\/td> | RWS<\/td> | Ragweed sensitivity<\/td>\n<\/tr>\n |
| 605862<\/td> | RXYLT1<\/td> | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10<\/td>\n<\/tr>\n |
| 180901<\/td> | RYR1<\/td> | Congenital myopathy 1B; Congenital myopathy 1A, with susceptibility to malignant hyperthermia; King-Denborough syndrome; Malignant hyperthermia susceptibility 1<\/td>\n<\/tr>\n |
| 180902<\/td> | RYR2<\/td> | Ventricular tachycardia, catecholaminergic polymorphic, 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome<\/td>\n<\/tr>\n |
| 180903<\/td> | RYR3<\/td> | Congenital myopathy 20<\/td>\n<\/tr>\n |
| 605111<\/td> | S1PR2<\/td> | Deafness 68<\/td>\n<\/tr>\n |
| 604490<\/td> | SACS<\/td> | Spastic ataxia, Charlevoix-Saguenay type<\/td>\n<\/tr>\n |
| 181031<\/td> | SAG<\/td> | Retinitis pigmentosa 47; Retinitis pigmentosa 96; Oguchi disease-1<\/td>\n<\/tr>\n |
| 602218<\/td> | SALL1<\/td> | Townes-Brocks syndrome 1; Townes-Brocks branchiootorenal-like syndrome<\/td>\n<\/tr>\n |
| 602219<\/td> | SALL2<\/td> | Coloboma, ocular<\/td>\n<\/tr>\n |
| 607343<\/td> | SALL4<\/td> | IVIC syndrome; Duane-radial ray syndrome<\/td>\n<\/tr>\n |
| 618073<\/td> | SAMD12<\/td> | Epilepsy, familial adult myoclonic, 1<\/td>\n<\/tr>\n |
| 620493<\/td> | SAMD7<\/td> | Macular dystrophy with or without cone dysfunction<\/td>\n<\/tr>\n |
| 610456<\/td> | SAMD9<\/td> | Tumoral calcinosis, familial, normophosphatemic; Monosomy 7 myelodysplasia and leukemia syndrome 2; MIRAGE syndrome<\/td>\n<\/tr>\n |
| 611170<\/td> | SAMD9L<\/td> | Ataxia-pancytopenia syndrome; Spinocerebellar ataxia 49; Monosomy 7 myelodysplasia and leukemia syndrome 1<\/td>\n<\/tr>\n |
| 606754<\/td> | SAMHD1<\/td> | Chilblain lupus 2; Aicardi-Goutieres syndrome 5<\/td>\n<\/tr>\n |
| 607690<\/td> | SAR1B<\/td> | Chylomicron retention disease<\/td>\n<\/tr>\n |
| 604455<\/td> | SARDH<\/td> | Sarcosinemia<\/td>\n<\/tr>\n |
| 607529<\/td> | SARS1<\/td> | Neurodevelopmental disorder with microcephaly, ataxia, and seizures<\/td>\n<\/tr>\n |
| 612804<\/td> | SARS2<\/td> | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis<\/td>\n<\/tr>\n |
| 607955<\/td> | SASH1<\/td> | Dyschromatosis universalis hereditaria 1; Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma<\/td>\n<\/tr>\n |
| 300441<\/td> | SASH3<\/td> | Immunodeficiency 102, X-linked recessive<\/td>\n<\/tr>\n |
| 609321<\/td> | SASS6<\/td> | Microcephaly 14, primary<\/td>\n<\/tr>\n |
| 602075<\/td> | SATB1<\/td> | den Hoed-de Boer-Voisin syndrome; Developmental delay with dysmorphic facies and dental anomalies<\/td>\n<\/tr>\n |
| 608148<\/td> | SATB2<\/td> | Glass syndrome<\/td>\n<\/tr>\n |
| 607444<\/td> | SBDS<\/td> | Aplastic anemia, susceptibility to; Shwachman-Diamond syndrome 1<\/td>\n<\/tr>\n |
| 603560<\/td> | SBF1<\/td> | Charcot-Marie-Tooth disease, type 4B3<\/td>\n<\/tr>\n |
| 607697<\/td> | SBF2<\/td> | Charcot-Marie-Tooth disease, type 4B2<\/td>\n<\/tr>\n |
| 602286<\/td> | SC5D<\/td> | Lathosterolosis<\/td>\n<\/tr>\n |
| 607458<\/td> | SCA18<\/td> | Spinocerebellar ataxia 18<\/td>\n<\/tr>\n |
| 613371<\/td> | SCA30<\/td> | Spinocerebellar ataxia 30<\/td>\n<\/tr>\n |
| 616023<\/td> | SCAF4<\/td> | Fliedner-Zweier syndrome<\/td>\n<\/tr>\n |
| 611611<\/td> | SCAPER<\/td> | Intellectual developmental disorder and retinitis pigmentosa<\/td>\n<\/tr>\n |
| 271250<\/td> | SCAR3<\/td> | Spinocerebellar ataxia 3<\/td>\n<\/tr>\n |
| 601040<\/td> | SCARB1<\/td> | High density lipoprotein cholesterol level QTL6<\/td>\n<\/tr>\n |
| 602257<\/td> | SCARB2<\/td> | Epilepsy, progressive myoclonic 4, with or without renal failure<\/td>\n<\/tr>\n |
| 613619<\/td> | SCARF2<\/td> | Van den Ende-Gupta syndrome<\/td>\n<\/tr>\n |
| 300703<\/td> | SCAX5<\/td> | Spinocerebellar ataxia, X-linked 5, X-linked recessive<\/td>\n<\/tr>\n |
| 608370<\/td> | SCD5<\/td> | Deafness 79<\/td>\n<\/tr>\n |
| 606531<\/td> | SCGB3A2<\/td> | Asthma, susceptibility to<\/td>\n<\/tr>\n |
| 182280<\/td> | SCLC1<\/td> | Small-cell cancer of lung<\/td>\n<\/tr>\n |
| 604427<\/td> | SCN10A<\/td> | Episodic pain syndrome, familial, 2<\/td>\n<\/tr>\n |
| 604385<\/td> | SCN11A<\/td> | Episodic pain syndrome, familial, 3; Neuropathy, hereditary sensory and autonomic, type VII<\/td>\n<\/tr>\n |
| 182389<\/td> | SCN1A<\/td> | Developmental and epileptic encephalopathy 6B, non-Dravet; Migraine, familial hemiplegic, 3; Dravet syndrome; Febrile seizures, familial, 3A; Generalized epilepsy with febrile seizures plus, type 2<\/td>\n<\/tr>\n |
| 600235<\/td> | SCN1B<\/td> | Generalized epilepsy with febrile seizures plus, type 1; Developmental and epileptic encephalopathy 52; Cardiac conduction defect, nonspecific; Atrial fibrillation, familial, 13; Brugada syndrome 5<\/td>\n<\/tr>\n |
| 182390<\/td> | SCN2A<\/td> | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy 11; Episodic ataxia, type 9<\/td>\n<\/tr>\n |
| 601327<\/td> | SCN2B<\/td> | Atrial fibrillation, familial, 14<\/td>\n<\/tr>\n |
| 182391<\/td> | SCN3A<\/td> | Epilepsy, familial focal, with variable foci 4; Developmental and epileptic encephalopathy 62<\/td>\n<\/tr>\n |
| 608214<\/td> | SCN3B<\/td> | Atrial fibrillation, familial, 16; Brugada syndrome 7<\/td>\n<\/tr>\n |
| 603967<\/td> | SCN4A<\/td> | Paramyotonia congenita; Hyperkalemic periodic paralysis; Congenital myopathy 22B, severe fetal; Hypokalemic periodic paralysis, type 2; Myotonia congenita, atypical, acetazolamide-responsive; Myasthenic syndrome, congenital, 16; Congenital myopathy 22A, classic<\/td>\n<\/tr>\n |
| 608256<\/td> | SCN4B<\/td> | Atrial fibrillation, familial, 17; Long QT syndrome 10<\/td>\n<\/tr>\n |
| 600163<\/td> | SCN5A<\/td> | Ventricular fibrillation, familial, 1; Heart block, progressive, type IA; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Long QT syndrome 3; Sick sinus syndrome 1; Brugada syndrome 1; Atrial fibrillation, familial, 10; Sudden infant death syndrome, susceptibility to<\/td>\n<\/tr>\n |
| 600702<\/td> | SCN8A<\/td> | Myoclonus, familial, 2; Seizures, benign familial infantile, 5; Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy 13<\/td>\n<\/tr>\n |
| 603415<\/td> | SCN9A<\/td> | Erythermalgia, primary; Insensitivity to pain, congenital; Small fiber neuropathy; Paroxysmal extreme pain disorder; Neuropathy, hereditary sensory and autonomic, type IID<\/td>\n<\/tr>\n |
| 608095<\/td> | SCNM1<\/td> | Orofaciodigital syndrome XIX<\/td>\n<\/tr>\n |
| 600228<\/td> | SCNN1A<\/td> | Pseudohypoaldosteronism, type IB1; Liddle syndrome 3; Bronchiectasis with or without elevated sweat chloride 2<\/td>\n<\/tr>\n |
| 600760<\/td> | SCNN1B<\/td> | Bronchiectasis with or without elevated sweat chloride 1; Pseudohypoaldosteronism, type IB2; Liddle syndrome 1<\/td>\n<\/tr>\n |
| 600761<\/td> | SCNN1G<\/td> | Bronchiectasis with or without elevated sweat chloride 3; Pseudohypoaldosteronism, type IB3; Liddle syndrome 2<\/td>\n<\/tr>\n |
| 603644<\/td> | SCO1<\/td> | Mitochondrial complex IV deficiency, nuclear type 4<\/td>\n<\/tr>\n |
| 604272<\/td> | SCO2<\/td> | Myopia 6; Mitochondrial complex IV deficiency, nuclear type 2<\/td>\n<\/tr>\n |
| 184755<\/td> | SCP2<\/td> | Leukoencephalopathy with dystonia and motor neuropathy<\/td>\n<\/tr>\n |
| 614708<\/td> | SCUBE3<\/td> | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies<\/td>\n<\/tr>\n |
| 607982<\/td> | SCYL1<\/td> | Spinocerebellar ataxia 21<\/td>\n<\/tr>\n |
| 616365<\/td> | SCYL2<\/td> | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum<\/td>\n<\/tr>\n |
| 181510<\/td> | SCZD1<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 605419<\/td> | SCZD10<\/td> | Schizophrenia 10<\/td>\n<\/tr>\n |
| 608078<\/td> | SCZD11<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 608543<\/td> | SCZD12<\/td> | Schizophrenia 12<\/td>\n<\/tr>\n |
| 613025<\/td> | SCZD13<\/td> | Schizophrenia, susceptibility to, 13<\/td>\n<\/tr>\n |
| 612361<\/td> | SCZD14<\/td> | Schizophrenia, susceptibility to, 14<\/td>\n<\/tr>\n |
| 603342<\/td> | SCZD2<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 600511<\/td> | SCZD3<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 603013<\/td> | SCZD6<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 603176<\/td> | SCZD7<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 603206<\/td> | SCZD8<\/td> | Schizophrenia<\/td>\n<\/tr>\n |
| 186357<\/td> | SDC3<\/td> | Obesity, association with, Multifactorial<\/td>\n<\/tr>\n |
| 613524<\/td> | SDCCAG8<\/td> | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16<\/td>\n<\/tr>\n |
| 600857<\/td> | SDHA<\/td> | Cardiomyopathy, dilated, 1GG; Mitochondrial complex II deficiency, nuclear type 1; Neurodegeneration with ataxia and late-onset optic atrophy; Pheochromocytoma\/paraganglioma syndrome 5<\/td>\n<\/tr>\n |
| 612848<\/td> | SDHAF1<\/td> | Mitochondrial complex II deficiency, nuclear type 2<\/td>\n<\/tr>\n |
| 613019<\/td> | SDHAF2<\/td> | Pheochromocytoma\/paraganglioma syndrome 2<\/td>\n<\/tr>\n |
| 185470<\/td> | SDHB<\/td> | Pheochromocytoma\/paraganglioma syndrome 4; Mitochondrial complex II deficiency, nuclear type 4; Gastrointestinal stromal tumor, Isolated cases; Paraganglioma and gastric stromal sarcoma<\/td>\n<\/tr>\n |
| 602413<\/td> | SDHC<\/td> | Pheochromocytoma\/paraganglioma syndrome 3; Paraganglioma and gastric stromal sarcoma; Gastrointestinal stromal tumor, Isolated cases<\/td>\n<\/tr>\n |
| 602690<\/td> | SDHD<\/td> | Pheochromocytoma\/paraganglioma syndrome 1; Paraganglioma and gastric stromal sarcoma; Mitochondrial complex II deficiency, nuclear type 3<\/td>\n<\/tr>\n |
| 609769<\/td> | SDR9C7<\/td> | Ichthyosis, congenital 13<\/td>\n<\/tr>\n |
| 610511<\/td> | SEC23A<\/td> | Craniolenticulosutural dysplasia<\/td>\n<\/tr>\n |
| 610512<\/td> | SEC23B<\/td> | Cowden syndrome 7; Dyserythropoietic anemia, congenital, type II<\/td>\n<\/tr>\n |
| 607186<\/td> | SEC24D<\/td> | Cole-Carpenter syndrome 2<\/td>\n<\/tr>\n |
| 610257<\/td> | SEC31A<\/td> | Halperin-Birk syndrome<\/td>\n<\/tr>\n |
| 609213<\/td> | SEC61A1<\/td> | Immunodeficiency, common variable, 15; Neutropenia, severe congenital, 11; Tubulointerstitial kidney disease, 5<\/td>\n<\/tr>\n |
| 608648<\/td> | SEC63<\/td> | Polycystic liver disease 2<\/td>\n<\/tr>\n |
| 607693<\/td> | SECISBP2<\/td> | Thyroid hormone metabolism, abnormal, 1<\/td>\n<\/tr>\n |
| 604188<\/td> | SELENBP1<\/td> | Extraoral halitosis due to MTO deficiency<\/td>\n<\/tr>\n |
| 607915<\/td> | SELENOI<\/td> | Spastic paraplegia 81<\/td>\n<\/tr>\n |
| 606210<\/td> | SELENON<\/td> | Congenital myopathy 3 with rigid spine<\/td>\n<\/tr>\n |
| 603961<\/td> | SEMA3A<\/td> | Hypogonadotropic hypogonadism 16 with or without anosmia<\/td>\n<\/tr>\n |
| 607292<\/td> | SEMA4A<\/td> | Retinitis pigmentosa 35; Cone-rod dystrophy 10<\/td>\n<\/tr>\n |
| 608873<\/td> | SEMA6B<\/td> | Epilepsy, progressive myoclonic, 11<\/td>\n<\/tr>\n |
| 607961<\/td> | SEMA7A<\/td> | Cholestasis, progressive familial intrahepatic, 11; Blood group, John-Milton-Hagen system<\/td>\n<\/tr>\n |
| 613009<\/td> | SEPSECS<\/td> | Pontocerebellar hypoplasia type 2D<\/td>\n<\/tr>\n |
| 611562<\/td> | SEPTIN12<\/td> | Spermatogenic failure 10<\/td>\n<\/tr>\n |
| 604061<\/td> | SEPTIN9<\/td> | Amyotrophy, hereditary neuralgic<\/td>\n<\/tr>\n |
| 614725<\/td> | SERAC1<\/td> | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome<\/td>\n<\/tr>\n |
| 107400<\/td> | SERPINA1<\/td> | Hemorrhagic diathesis due to antithrombin Pittsburgh; Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency<\/td>\n<\/tr>\n |
| 107280<\/td> | SERPINA3<\/td> | Alpha-1-antichymotrypsin deficiency; Cerebrovascular disease, occlusive<\/td>\n<\/tr>\n |
| 122500<\/td> | SERPINA6<\/td> | Corticosteroid-binding globulin deficiency<\/td>\n<\/tr>\n |
| 314200<\/td> | SERPINA7<\/td> | Thyroxine-binding globulin QTL, X-linked<\/td>\n<\/tr>\n |
| 173321<\/td> | SERPINB6<\/td> | Deafness 91<\/td>\n<\/tr>\n |
| 603357<\/td> | SERPINB7<\/td> | Palmoplantar keratoderma, Nagashima type<\/td>\n<\/tr>\n |
| 601697<\/td> | SERPINB8<\/td> | Peeling skin syndrome 5<\/td>\n<\/tr>\n |
| 107300<\/td> | SERPINC1<\/td> | Thrombophilia 7 due to antithrombin III deficiency<\/td>\n<\/tr>\n |
| 142360<\/td> | SERPIND1<\/td> | Thrombophilia 10 due to heparin cofactor II deficiency<\/td>\n<\/tr>\n |
| 173360<\/td> | SERPINE1<\/td> | Plasminogen activator inhibitor-1 deficiency; Transcription of plasminogen activator inhibitor, modulator of<\/td>\n<\/tr>\n |
| 172860<\/td> | SERPINF1<\/td> | Osteogenesis imperfecta, type VI<\/td>\n<\/tr>\n |
| 613168<\/td> | SERPINF2<\/td> | Alpha-2-plasmin inhibitor deficiency<\/td>\n<\/tr>\n |
| 606860<\/td> | SERPING1<\/td> | Angioedema, hereditary, 1 and 2; Complement component 4, partial deficiency of<\/td>\n<\/tr>\n |
| 600943<\/td> | SERPINH1<\/td> | Preterm premature rupture of the membranes, susceptibility to, Multifactorial; Osteogenesis imperfecta, type X<\/td>\n<\/tr>\n |
| 602445<\/td> | SERPINI1<\/td> | Encephalopathy, familial, with neuroserpin inclusion bodies<\/td>\n<\/tr>\n |
| 600960<\/td> | SET<\/td> | Intellectual developmental disorder 58<\/td>\n<\/tr>\n |
| 611060<\/td> | SETBP1<\/td> | Schinzel-Giedion midface retraction syndrome; Intellectual developmental disorder 29<\/td>\n<\/tr>\n |
| 611052<\/td> | SETD1A<\/td> | Epilepsy, early-onset, 2, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies<\/td>\n<\/tr>\n |
| 611055<\/td> | SETD1B<\/td> | Intellectual developmental disorder with seizures and language delay<\/td>\n<\/tr>\n |
| 612778<\/td> | SETD2<\/td> | Luscan-Lumish syndrome; Intellectual developmental disorder 70; Rabin-Pappas syndrome<\/td>\n<\/tr>\n |
| 615743<\/td> | SETD5<\/td> | Intellectual developmental disorder 23<\/td>\n<\/tr>\n |
| 608465<\/td> | SETX<\/td> | Spinocerebellar ataxia, with axonal neuropathy 2; Amyotrophic lateral sclerosis 4, juvenile<\/td>\n<\/tr>\n |
| 111800<\/td> | SF<\/td> | Blood group, Stoltzfus system<\/td>\n<\/tr>\n |
| 605590<\/td> | SF3B1<\/td> | Myelodysplastic syndrome, somatic<\/td>\n<\/tr>\n |
| 605591<\/td> | SF3B2<\/td> | Craniofacial microsomia<\/td>\n<\/tr>\n |
| 605593<\/td> | SF3B4<\/td> | Acrofacial dysostosis 1, Nager type<\/td>\n<\/tr>\n |
| 606570<\/td> | SFRP4<\/td> | Pyle disease<\/td>\n<\/tr>\n |
| 178630<\/td> | SFTPA1<\/td> | Interstitial lung disease 1<\/td>\n<\/tr>\n |
| 178642<\/td> | SFTPA2<\/td> | Interstitial lung disease 2<\/td>\n<\/tr>\n |
| 178640<\/td> | SFTPB<\/td> | Surfactant metabolism dysfunction, pulmonary, 1<\/td>\n<\/tr>\n |
| 178620<\/td> | SFTPC<\/td> | Surfactant metabolism dysfunction, pulmonary, 2<\/td>\n<\/tr>\n |
| 615564<\/td> | SFXN4<\/td> | Combined oxidative phosphorylation deficiency 18<\/td>\n<\/tr>\n |
| 600119<\/td> | SGCA<\/td> | Muscular dystrophy, limb-girdle 3<\/td>\n<\/tr>\n |
| 600900<\/td> | SGCB<\/td> | Muscular dystrophy, limb-girdle 4<\/td>\n<\/tr>\n |
| 601411<\/td> | SGCD<\/td> | Cardiomyopathy, dilated, 1L; Muscular dystrophy, limb-girdle 6<\/td>\n<\/tr>\n |
| 604149<\/td> | SGCE<\/td> | Dystonia-11, myoclonic<\/td>\n<\/tr>\n |
| 608896<\/td> | SGCG<\/td> | Muscular dystrophy, limb-girdle 5<\/td>\n<\/tr>\n |
| 611574<\/td> | SGMS2<\/td> | Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia<\/td>\n<\/tr>\n |
| 609168<\/td> | SGO1<\/td> | Chronic atrial and intestinal dysrhythmia<\/td>\n<\/tr>\n |
| 603729<\/td> | SGPL1<\/td> | RENI syndrome<\/td>\n<\/tr>\n |
| 605270<\/td> | SGSH<\/td> | Mucopolysaccharidosis type IIIA (Sanfilippo A)<\/td>\n<\/tr>\n |
| 605093<\/td> | SH2B3<\/td> | Thrombocythemia, somatic; Myelofibrosis, somatic; Erythrocytosis, somatic<\/td>\n<\/tr>\n |
| 300490<\/td> | SH2D1A<\/td> | Lymphoproliferative syndrome, X-linked, 1, X-linked recessive<\/td>\n<\/tr>\n |
| 602104<\/td> | SH3BP2<\/td> | Cherubism<\/td>\n<\/tr>\n |
| 601768<\/td> | SH3GL1<\/td> | Leukemia, acute myeloid, Somatic mutation<\/td>\n<\/tr>\n |
| 300374<\/td> | SH3KBP1<\/td> | Immunodeficiency 61, X-linked recessive<\/td>\n<\/tr>\n |
| 613293<\/td> | SH3PXD2B<\/td> | Frank-ter Haar syndrome<\/td>\n<\/tr>\n |
| 608206<\/td> | SH3TC2<\/td> | Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild<\/td>\n<\/tr>\n |
| 603290<\/td> | SHANK2<\/td> | Autism susceptibility 17<\/td>\n<\/tr>\n |
| 606230<\/td> | SHANK3<\/td> | Phelan-McDermid syndrome; Schizophrenia 15<\/td>\n<\/tr>\n |
| 611885<\/td> | SHARPIN<\/td> | Autoinflammation with episodic fever and immune dysregulation<\/td>\n<\/tr>\n |
| 119100<\/td> | SHFL1<\/td> | Split-hand\/foot malformation with long bone deficiency 1<\/td>\n<\/tr>\n |
| 610685<\/td> | SHFLD2<\/td> | Split-hand\/foot malformation with long bone deficiency 2<\/td>\n<\/tr>\n |
| 313350<\/td> | SHFM2<\/td> | Split hand\/foot malformation 2, X-linked<\/td>\n<\/tr>\n |
| 606708<\/td> | SHFM5<\/td> | Split-hand\/foot malformation 5<\/td>\n<\/tr>\n |
| 600725<\/td> | SHH<\/td> | Single median maxillary central incisor; Holoprosencephaly 3; Microphthalmia\/coloboma 5<\/td>\n<\/tr>\n |
| 138450<\/td> | SHMT2<\/td> | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities<\/td>\n<\/tr>\n |
| 618038<\/td> | SHOC1<\/td> | Spermatogenic failure 75<\/td>\n<\/tr>\n |
| 602775<\/td> | SHOC2<\/td> | Noonan syndrome-like with loose anagen hair 1<\/td>\n<\/tr>\n |
| 312865<\/td> | SHOX<\/td> | Short stature, idiopathic familial; Leri-Weill dyschondrosteosis, Pseudoautosomal dominant; Langer mesomelic dysplasia, Pseudoautosomal recessive<\/td>\n<\/tr>\n |
| 400020<\/td> | SHOX<\/td> | Short stature, idiopathic familial; Langer mesomelic dysplasia, Pseudoautosomal recessive; Leri-Weill dyschondrosteosis, Pseudoautosomal dominant<\/td>\n<\/tr>\n |
| 605060<\/td> | SHPK<\/td> | Sedoheptulokinase deficiency<\/td>\n<\/tr>\n |
| 613663<\/td> | SHQ1<\/td> | Neurodevelopmental disorder with dystonia and seizures; Dystonia 35, childhood-onset<\/td>\n<\/tr>\n |
| 609845<\/td> | SI<\/td> | Sucrase-isomaltase deficiency, congenital<\/td>\n<\/tr>\n |
| 610079<\/td> | SIAE<\/td> | Autoimmune disease, susceptibility to, 6<\/td>\n<\/tr>\n |
| 602212<\/td> | SIAH1<\/td> | Buratti-Harel syndrome<\/td>\n<\/tr>\n |
| 601978<\/td> | SIGMAR1<\/td> | Neuronopathy, distal hereditary motor 2; Amyotrophic lateral sclerosis 16, juvenile<\/td>\n<\/tr>\n |
| 605705<\/td> | SIK1<\/td> | Developmental and epileptic encephalopathy 30<\/td>\n<\/tr>\n |
| 614776<\/td> | SIK3<\/td> | Spondyloepimetaphyseal dysplasia, Krakow type<\/td>\n<\/tr>\n |
| 608005<\/td> | SIL1<\/td> | Marinesco-Sjogren syndrome<\/td>\n<\/tr>\n |
| 607776<\/td> | SIN3A<\/td> | Witteveen-Kolk syndrome<\/td>\n<\/tr>\n |
| 616655<\/td> | SIPA1L3<\/td> | Cataract 45<\/td>\n<\/tr>\n |
| 601205<\/td> | SIX1<\/td> | Deafness 23; Branchiootic syndrome 3<\/td>\n<\/tr>\n |
| 603714<\/td> | SIX3<\/td> | Schizencephaly; Holoprosencephaly 2<\/td>\n<\/tr>\n |
| 600963<\/td> | SIX5<\/td> | Branchiootorenal syndrome 2<\/td>\n<\/tr>\n |
| 606326<\/td> | SIX6<\/td> | Optic disc anomalies with retinal and\/or macular dystrophy<\/td>\n<\/tr>\n |
| 164780<\/td> | SKI<\/td> | Shprintzen-Goldberg syndrome<\/td>\n<\/tr>\n |
| 600478<\/td> | SKIC2<\/td> | Trichohepatoenteric syndrome 2<\/td>\n<\/tr>\n |
| 614589<\/td> | SKIC3<\/td> | Trichohepatoenteric syndrome 1<\/td>\n<\/tr>\n |
| 182396<\/td> | SLC10A1<\/td> | Hypercholanemia, familial 2<\/td>\n<\/tr>\n |
| 601295<\/td> | SLC10A2<\/td> | Bile acid malabsorption, primary, 1<\/td>\n<\/tr>\n |
| 611459<\/td> | SLC10A7<\/td> | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis<\/td>\n<\/tr>\n |
| 600266<\/td> | SLC11A1<\/td> | Mycobacterium tuberculosis, susceptibility to infection by; Buruli ulcer, susceptibility to<\/td>\n<\/tr>\n |
| 600523<\/td> | SLC11A2<\/td> | Anemia, hypochromic microcytic, with iron overload 1<\/td>\n<\/tr>\n |
| 600839<\/td> | SLC12A1<\/td> | Bartter syndrome, type 1<\/td>\n<\/tr>\n |
| 600840<\/td> | SLC12A2<\/td> | Kilquist syndrome; Delpire-McNeill syndrome; Deafness 78<\/td>\n<\/tr>\n |
| 600968<\/td> | SLC12A3<\/td> | Gitelman syndrome<\/td>\n<\/tr>\n |
| 606726<\/td> | SLC12A5<\/td> | Epilepsy, idiopathic generalized, susceptibility to, 14; Developmental and epileptic encephalopathy 34<\/td>\n<\/tr>\n |
| 604878<\/td> | SLC12A6<\/td> | Agenesis of the corpus callosum with peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, type 2II<\/td>\n<\/tr>\n |
| 606411<\/td> | SLC13A3<\/td> | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate<\/td>\n<\/tr>\n |
| 608305<\/td> | SLC13A5<\/td> | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta<\/td>\n<\/tr>\n |
| 613868<\/td> | SLC14A1<\/td> | Blood group, Kidd<\/td>\n<\/tr>\n |
| 600682<\/td> | SLC16A1<\/td> | Hyperinsulinemic hypoglycemia, familial, 7; Erythrocyte lactate transporter defect; Monocarboxylate transporter 1 deficiency<\/td>\n<\/tr>\n |
| 611910<\/td> | SLC16A12<\/td> | Cataract 47, juvenile, with microcornea<\/td>\n<\/tr>\n |
| 300095<\/td> | SLC16A2<\/td> | Allan-Herndon-Dudley syndrome, X-linked<\/td>\n<\/tr>\n |
| 611034<\/td> | SLC17A3<\/td> | Uric acid concentration, serum, QTL4; Gout susceptibility 4<\/td>\n<\/tr>\n |
| 604322<\/td> | SLC17A5<\/td> | Salla disease; Sialic acid storage disorder, infantile<\/td>\n<\/tr>\n |
| 607557<\/td> | SLC17A8<\/td> | Deafness 25<\/td>\n<\/tr>\n |
| 612107<\/td> | SLC17A9<\/td> | Porokeratosis 8, disseminated superficial actinic type<\/td>\n<\/tr>\n |
| 193001<\/td> | SLC18A2<\/td> | Parkinsonism-dystonia, infantile, 2<\/td>\n<\/tr>\n |
| 600336<\/td> | SLC18A3<\/td> | Myasthenic syndrome, congenital, 21, presynaptic<\/td>\n<\/tr>\n |
| 600424<\/td> | SLC19A1<\/td> | Immunodeficiency 114, folate-responsive; Megaloblastic anemia, folate-responsive<\/td>\n<\/tr>\n |
| 603941<\/td> | SLC19A2<\/td> | Thiamine-responsive megaloblastic anemia syndrome<\/td>\n<\/tr>\n |
| 606152<\/td> | SLC19A3<\/td> | Thiamine metabolism dysfunction syndrome 2 (biotin\/thiamine-responsive basal ganglia disease type)<\/td>\n<\/tr>\n |
| 133550<\/td> | SLC1A1<\/td> | Dicarboxylic aminoaciduria; Schizophrenia susceptibility 18<\/td>\n<\/tr>\n |
| 600300<\/td> | SLC1A2<\/td> | Developmental and epileptic encephalopathy 41<\/td>\n<\/tr>\n |
| 600111<\/td> | SLC1A3<\/td> | Episodic ataxia, type 6<\/td>\n<\/tr>\n |
| 600229<\/td> | SLC1A4<\/td> | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly<\/td>\n<\/tr>\n |
| 158378<\/td> | SLC20A2<\/td> | Basal ganglia calcification, idiopathic, 1<\/td>\n<\/tr>\n |
| 607096<\/td> | SLC22A12<\/td> | Hypouricemia, renal<\/td>\n<\/tr>\n |
| 602631<\/td> | SLC22A18<\/td> | Breast cancer, somatic; Lung cancer, somatic; Rhabdomyosarcoma, somatic<\/td>\n<\/tr>\n |
| 604190<\/td> | SLC22A4<\/td> | Rheumatoid arthritis, susceptibility to<\/td>\n<\/tr>\n |
| 603377<\/td> | SLC22A5<\/td> | Carnitine deficiency, systemic primary<\/td>\n<\/tr>\n |
| 603617<\/td> | SLC24A1<\/td> | Night blindness, congenital stationary (complete), 1D<\/td>\n<\/tr>\n |
| 609840<\/td> | SLC24A4<\/td> | Skin\/hair\/eye pigmentation 6, blond\/brown hair; Amelogenesis imperfecta, type IIA5; Skin\/hair\/eye pigmentation 6, blue\/green eyes<\/td>\n<\/tr>\n |
| 609802<\/td> | SLC24A5<\/td> | Skin\/hair\/eye pigmentation 4, fair\/dark skin; Albinism, oculocutaneous, type VI<\/td>\n<\/tr>\n |
| 190315<\/td> | SLC25A1<\/td> | Combined D-2- and L-2-hydroxyglutaric aciduria; Myasthenic syndrome, congenital, 23, presynaptic<\/td>\n<\/tr>\n |
| 606794<\/td> | SLC25A10<\/td> | Mitochondrial DNA depletion syndrome 19<\/td>\n<\/tr>\n |
| 604165<\/td> | SLC25A11<\/td> | Pheochromocytoma\/paraganglioma syndrome 6<\/td>\n<\/tr>\n |
| 603667<\/td> | SLC25A12<\/td> | Developmental and epileptic encephalopathy 39<\/td>\n<\/tr>\n |
| 603859<\/td> | SLC25A13<\/td> | Citrullinemia, type II, neonatal-onset; Citrullinemia, adult-onset type II<\/td>\n<\/tr>\n |
| 603861<\/td> | SLC25A15<\/td> | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome<\/td>\n<\/tr>\n |
| 606521<\/td> | SLC25A19<\/td> | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)<\/td>\n<\/tr>\n |
| 613698<\/td> | SLC25A20<\/td> | Carnitine-acylcarnitine translocase deficiency<\/td>\n<\/tr>\n |
| 607571<\/td> | SLC25A21<\/td> | Mitochondrial DNA depletion syndrome 18<\/td>\n<\/tr>\n |
| 609302<\/td> | SLC25A22<\/td> | Developmental and epileptic encephalopathy 3<\/td>\n<\/tr>\n |
| 608744<\/td> | SLC25A24<\/td> | Fontaine progeroid syndrome<\/td>\n<\/tr>\n |
| 611037<\/td> | SLC25A26<\/td> | Combined oxidative phosphorylation deficiency 28<\/td>\n<\/tr>\n |
| 600370<\/td> | SLC25A3<\/td> | Mitochondrial phosphate carrier deficiency<\/td>\n<\/tr>\n |
| 138480<\/td> | SLC25A32<\/td> | Exercise intolerance, riboflavin-responsive<\/td>\n<\/tr>\n |
| 616149<\/td> | SLC25A36<\/td> | Hyperinsulinemic hypoglycemia, familial, 8<\/td>\n<\/tr>\n |
| 610819<\/td> | SLC25A38<\/td> | Anemia, sideroblastic, 2, pyridoxine-refractory<\/td>\n<\/tr>\n |
| 103220<\/td> | SLC25A4<\/td> | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; Progressive external ophthalmoplegia with mitochondrial DNA deletions 2; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD<\/td>\n<\/tr>\n |
| 610823<\/td> | SLC25A42<\/td> | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression<\/td>\n<\/tr>\n |
| 610826<\/td> | SLC25A46<\/td> | Neuropathy, hereditary motor and sensory, type VIB; Pontocerebellar hypoplasia, type 1E<\/td>\n<\/tr>\n |
| 610130<\/td> | SLC26A1<\/td> | Hypersulfaturia; Nephrolithiasis, calcium oxalate, 1<\/td>\n<\/tr>\n |
| 606718<\/td> | SLC26A2<\/td> | Epiphyseal dysplasia, multiple, 4; De la Chapelle dysplasia; Diastrophic dysplasia; Diastrophic dysplasia, broad bone-platyspondylic variant; Achondrogenesis Ib; Atelosteogenesis, type II<\/td>\n<\/tr>\n |
| 126650<\/td> | SLC26A3<\/td> | Diarrhea 1, secretory chloride, congenital<\/td>\n<\/tr>\n |
| 605646<\/td> | SLC26A4<\/td> | Deafness 4, with enlarged vestibular aqueduct; Pendred syndrome<\/td>\n<\/tr>\n |
| 604943<\/td> | SLC26A5<\/td> | Deafness 61<\/td>\n<\/tr>\n |
| 608480<\/td> | SLC26A8<\/td> | Spermatogenic failure 3<\/td>\n<\/tr>\n |
| 604194<\/td> | SLC27A4<\/td> | Ichthyosis prematurity syndrome<\/td>\n<\/tr>\n |
| 606207<\/td> | SLC28A1<\/td> | Uridine-cytidineuria<\/td>\n<\/tr>\n |
| 612373<\/td> | SLC29A3<\/td> | Histiocytosis-lymphadenopathy plus syndrome<\/td>\n<\/tr>\n |
| 138140<\/td> | SLC2A1<\/td> | Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; Stomatin-deficient cryohydrocytosis with neurologic defects; Epilepsy, idiopathic generalized, susceptibility to, 12; GLUT1 deficiency syndrome 2, childhood onset<\/td>\n<\/tr>\n |
| 606145<\/td> | SLC2A10<\/td> | Arterial tortuosity syndrome<\/td>\n<\/tr>\n |
| 138160<\/td> | SLC2A2<\/td> | Fanconi-Bickel syndrome; Diabetes mellitus, noninsulin-dependent<\/td>\n<\/tr>\n |
| 606142<\/td> | SLC2A9<\/td> | Uric acid concentration, serum, QTL 2; Hypouricemia, renal, 2<\/td>\n<\/tr>\n |
| 611146<\/td> | SLC30A10<\/td> | Hypermanganesemia with dystonia 1<\/td>\n<\/tr>\n |
| 609617<\/td> | SLC30A2<\/td> | Zinc deficiency, transient neonatal<\/td>\n<\/tr>\n |
| 611149<\/td> | SLC30A7<\/td> | Ziegler-Huang syndrome<\/td>\n<\/tr>\n |
| 611145<\/td> | SLC30A8<\/td> | Diabetes mellitus, noninsulin-dependent, susceptibility to<\/td>\n<\/tr>\n |
| 604604<\/td> | SLC30A9<\/td> | Birk-Landau-Perez syndrome<\/td>\n<\/tr>\n |
| 603085<\/td> | SLC31A1<\/td> | Neurodegeneration and seizures due to copper transport defect<\/td>\n<\/tr>\n |
| 616440<\/td> | SLC32A1<\/td> | Generalized epilepsy with febrile seizures plus, type 12; Developmental and epileptic encephalopathy 114<\/td>\n<\/tr>\n |
| 603690<\/td> | SLC33A1<\/td> | Spastic paraplegia 42; Huppke-Brendel syndrome<\/td>\n<\/tr>\n |
| 182309<\/td> | SLC34A1<\/td> | Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2; Nephrolithiasis\/osteoporosis, hypophosphatemic, 1<\/td>\n<\/tr>\n |
| 604217<\/td> | SLC34A2<\/td> | Pulmonary alveolar microlithiasis<\/td>\n<\/tr>\n |
| 609826<\/td> | SLC34A3<\/td> | Hypophosphatemic rickets with hypercalciuria<\/td>\n<\/tr>\n |
| 605634<\/td> | SLC35A1<\/td> | Congenital disorder of glycosylation, type IIf<\/td>\n<\/tr>\n |
| 314375<\/td> | SLC35A2<\/td> | Congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant<\/td>\n<\/tr>\n |
| 605632<\/td> | SLC35A3<\/td> | Arthrogryposis, impaired intellectual development, and seizures<\/td>\n<\/tr>\n |
| 610788<\/td> | SLC35B2<\/td> | Leukodystrophy, hypomyelinating, 26, with chondrodysplasia<\/td>\n<\/tr>\n |
| 605881<\/td> | SLC35C1<\/td> | Congenital disorder of glycosylation, type IIc<\/td>\n<\/tr>\n |
| 610804<\/td> | SLC35D1<\/td> | Schneckenbecken dysplasia<\/td>\n<\/tr>\n |
| 608331<\/td> | SLC36A2<\/td> | Iminoglycinuria, Digenic recessive; Hyperglycinuria<\/td>\n<\/tr>\n |
| 602671<\/td> | SLC37A4<\/td> | Glycogen storage disease Ib; Congenital disorder of glycosylation, type IIw; Glycogen storage disease Ic<\/td>\n<\/tr>\n |
| 604437<\/td> | SLC38A3<\/td> | Developmental and epileptic encephalopathy 102<\/td>\n<\/tr>\n |
| 615585<\/td> | SLC38A8<\/td> | Foveal hypoplasia 2, with or without optic nerve misrouting and\/or anterior segment dysgenesis<\/td>\n<\/tr>\n |
| 608735<\/td> | SLC39A13<\/td> | Ehlers-Danlos syndrome, spondylodysplastic type, 3<\/td>\n<\/tr>\n |
| 608736<\/td> | SLC39A14<\/td> | Hyperostosis cranalis interna; Hypermanganesemia with dystonia 2<\/td>\n<\/tr>\n |
| 607059<\/td> | SLC39A4<\/td> | Acrodermatitis enteropathica<\/td>\n<\/tr>\n |
| 608730<\/td> | SLC39A5<\/td> | Myopia 24<\/td>\n<\/tr>\n |
| 601416<\/td> | SLC39A7<\/td> | Agammaglobulinemia 9<\/td>\n<\/tr>\n |
| 608732<\/td> | SLC39A8<\/td> | Congenital disorder of glycosylation, type IIn<\/td>\n<\/tr>\n |
| 104614<\/td> | SLC3A1<\/td> | Cystinuria<\/td>\n<\/tr>\n |
| 604653<\/td> | SLC40A1<\/td> | Hemochromatosis, type 4<\/td>\n<\/tr>\n |
| 610801<\/td> | SLC41A1<\/td> | Nephronophthisis-like nephropathy 2<\/td>\n<\/tr>\n |
| 606105<\/td> | SLC44A1<\/td> | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline<\/td>\n<\/tr>\n |
| 606107<\/td> | SLC44A4<\/td> | Deafness 72<\/td>\n<\/tr>\n |
| 605763<\/td> | SLC45A1<\/td> | Intellectual developmental disorder with neuropsychiatric features<\/td>\n<\/tr>\n |
| 606202<\/td> | SLC45A2<\/td> | Skin\/hair\/eye pigmentation 5, dark\/light eyes; Skin\/hair\/eye pigmentation 5, black\/nonblack hair; Albinism, oculocutaneous, type IV; Skin\/hair\/eye pigmentation 5, dark\/fair skin<\/td>\n<\/tr>\n |
| 611672<\/td> | SLC46A1<\/td> | Folate malabsorption, hereditary<\/td>\n<\/tr>\n |
| 109270<\/td> | SLC4A1<\/td> | Blood group, Swann; Blood group, Wright; Distal renal tubular acidosis 1; Blood group, Waldner; Spherocytosis, type 4; Blood group, Froese; Distal renal tubular acidosis 4 with hemolytic anemia; Malaria, resistance to; Cryohydrocytosis; Ovalocytosis, SA type; Blood group, Diego<\/td>\n<\/tr>\n |
| 605556<\/td> | SLC4A10<\/td> | Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities<\/td>\n<\/tr>\n |
| 610206<\/td> | SLC4A11<\/td> | Corneal endothelial dystrophy; Corneal dystrophy, Fuchs endothelial, 4; Corneal endothelial dystrophy and perceptive deafness<\/td>\n<\/tr>\n |
| 109280<\/td> | SLC4A2<\/td> | Osteopetrosis 9<\/td>\n<\/tr>\n |
| 106195<\/td> | SLC4A3<\/td> | Short QT syndrome 7<\/td>\n<\/tr>\n |
| 603345<\/td> | SLC4A4<\/td> | Proximal renal tubular acidosis-ocular anomaly syndrome<\/td>\n<\/tr>\n |
| 612084<\/td> | SLC51A<\/td> | Cholestasis, progressive familial intrahepatic, 6<\/td>\n<\/tr>\n |
| 612085<\/td> | SLC51B<\/td> | Bile acid malabsorption, primary, 2<\/td>\n<\/tr>\n |
| 607883<\/td> | SLC52A1<\/td> | Riboflavin deficiency<\/td>\n<\/tr>\n |
| 607882<\/td> | SLC52A2<\/td> | Brown-Vialetto-Van Laere syndrome 2<\/td>\n<\/tr>\n |
| 613350<\/td> | SLC52A3<\/td> | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1<\/td>\n<\/tr>\n |
| 182380<\/td> | SLC5A1<\/td> | Glucose\/galactose malabsorption<\/td>\n<\/tr>\n |
| 182381<\/td> | SLC5A2<\/td> | Renal glucosuria<\/td>\n<\/tr>\n |
| 601843<\/td> | SLC5A5<\/td> | Thyroid dyshormonogenesis 1<\/td>\n<\/tr>\n |
| 604024<\/td> | SLC5A6<\/td> | Sodium-dependent multivitamin transporter deficiency; Peripheral motor neuropathy, childhood-onset, biotin-responsive<\/td>\n<\/tr>\n |
| 608761<\/td> | SLC5A7<\/td> | Neuronopathy, distal hereditary motor 7; Myasthenic syndrome, congenital, 20, presynaptic<\/td>\n<\/tr>\n |
| 137165<\/td> | SLC6A1<\/td> | Myoclonic-atonic epilepsy<\/td>\n<\/tr>\n |
| 610299<\/td> | SLC6A17<\/td> | Intellectual developmental disorder 48<\/td>\n<\/tr>\n |
| 608893<\/td> | SLC6A19<\/td> | Hartnup disorder<\/td>\n<\/tr>\n |
| 163970<\/td> | SLC6A2<\/td> | Orthostatic intolerance<\/td>\n<\/tr>\n |
| 126455<\/td> | SLC6A3<\/td> | Parkinsonism-dystonia, infantile, 1; Nicotine dependence, protection against<\/td>\n<\/tr>\n |
| 182138<\/td> | SLC6A4<\/td> | Obsessive-compulsive disorder; Anxiety-related personality traits<\/td>\n<\/tr>\n |
| 604159<\/td> | SLC6A5<\/td> | Hyperekplexia 3<\/td>\n<\/tr>\n |
| 186854<\/td> | SLC6A6<\/td> | Hypotaurinemic retinal degeneration and cardiomyopathy<\/td>\n<\/tr>\n |
| 300036<\/td> | SLC6A8<\/td> | Cerebral creatine deficiency syndrome 1, X-linked recessive<\/td>\n<\/tr>\n |
| 601019<\/td> | SLC6A9<\/td> | Glycine encephalopathy with normal serum glycine<\/td>\n<\/tr>\n |
| 615720<\/td> | SLC7A14<\/td> | Retinitis pigmentosa 68<\/td>\n<\/tr>\n |
| 619192<\/td> | SLC7A6OS<\/td> | Epilepsy, progressive myoclonic, 12<\/td>\n<\/tr>\n |
| 603593<\/td> | SLC7A7<\/td> | Lysinuric protein intolerance<\/td>\n<\/tr>\n |
| 604144<\/td> | SLC7A9<\/td> | Cystinuria<\/td>\n<\/tr>\n |
| 107310<\/td> | SLC9A1<\/td> | Lichtenstein-Knorr syndrome<\/td>\n<\/tr>\n |
| 182307<\/td> | SLC9A3<\/td> | Diarrhea 8, secretory sodium, congenital<\/td>\n<\/tr>\n |
| 300231<\/td> | SLC9A6<\/td> | Intellectual developmental disorder, X-linked syndromic, Christianson type, X-linked<\/td>\n<\/tr>\n |
| 300368<\/td> | SLC9A7<\/td> | Intellectual developmental disorder, X-linked 108, X-linked recessive<\/td>\n<\/tr>\n |
| 608396<\/td> | SLC9A9<\/td> | Autism susceptibility 16<\/td>\n<\/tr>\n |
| 604843<\/td> | SLCO1B1<\/td> | Hyperbilirubinemia, Rotor type, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 605495<\/td> | SLCO1B3<\/td> | Hyperbilirubinemia, Rotor type, digenic, Digenic recessive<\/td>\n<\/tr>\n |
| 601460<\/td> | SLCO2A1<\/td> | Hypertrophic osteoarthropathy, primary; PHOAR2-enteropathy syndrome<\/td>\n<\/tr>\n |
| 612254<\/td> | SLEB12<\/td> | Systemic lupus erythematosus, susceptibility to, 12<\/td>\n<\/tr>\n |
| 612378<\/td> | SLEB13<\/td> | Systemic lupus erythematosus, susceptibility to, 13<\/td>\n<\/tr>\n |
| 613145<\/td> | SLEB14<\/td> | Systemic lupus erythematosus, susceptibility to, 14<\/td>\n<\/tr>\n |
| 300809<\/td> | SLEB15<\/td> | Systemic lupus erythematosus, susceptibility to, 15<\/td>\n<\/tr>\n |
| 605480<\/td> | SLEB3<\/td> | Systemic lupus erythematosus, susceptibility to, 3<\/td>\n<\/tr>\n |
| 608437<\/td> | SLEB4<\/td> | Systemic lupus erythematosus, susceptibility to, 4<\/td>\n<\/tr>\n |
| 609903<\/td> | SLEB5<\/td> | Systemic lupus erythematosus, susceptibility to, 5<\/td>\n<\/tr>\n |
| 610065<\/td> | SLEB7<\/td> | Systemic lupus erythematosus, susceptibility to, 7<\/td>\n<\/tr>\n |
| 610066<\/td> | SLEB8<\/td> | Systemic lupus erythematosus, susceptibility to, 8<\/td>\n<\/tr>\n |
| 607279<\/td> | SLEH1<\/td> | Systemic lupus erythematosus with hemolytic anemia<\/td>\n<\/tr>\n |
| 607965<\/td> | SLEN1<\/td> | Systemic lupus erythematosus with nephritis, susceptibility to, 1<\/td>\n<\/tr>\n |
| 607966<\/td> | SLEN2<\/td> | Systemic lupus erythematosus with nephritis, susceptibility to, 2<\/td>\n<\/tr>\n |
| 607967<\/td> | SLEN3<\/td> | Systemic lupus erythematosus with nephritis, susceptibility to, 3<\/td>\n<\/tr>\n |
| 610348<\/td> | SLF2<\/td> | Atelis syndrome 1<\/td>\n<\/tr>\n |
| 614958<\/td> | SLFN14<\/td> | Bleeding disorder, platelet-type, 20<\/td>\n<\/tr>\n |
| 606711<\/td> | SLI1<\/td> | Specific language impairment QTL, 1, Multifactorial<\/td>\n<\/tr>\n |
| 606712<\/td> | SLI2<\/td> | Specific language impairment QTL, 2, Multifactorial<\/td>\n<\/tr>\n |
| 607134<\/td> | SLI3<\/td> | Specific language impairment QTL, 3<\/td>\n<\/tr>\n |
| 612514<\/td> | SLI4<\/td> | Specific language impairment 4<\/td>\n<\/tr>\n |
| 609678<\/td> | SLITRK1<\/td> | Tourette syndrome; Trichotillomania, Multifactorial<\/td>\n<\/tr>\n |
| 300561<\/td> | SLITRK2<\/td> | Intellectual developmental disorder, X-linked 111, X-linked<\/td>\n<\/tr>\n |
| 609681<\/td> | SLITRK6<\/td> | Deafness and myopia<\/td>\n<\/tr>\n |
| 606995<\/td> | SLSN3<\/td> | Senior-Loken syndrome 3<\/td>\n<\/tr>\n |
| 606119<\/td> | SLURP1<\/td> | Meleda disease<\/td>\n<\/tr>\n |
| 613278<\/td> | SLX4<\/td> | Fanconi anemia, complementation group P<\/td>\n<\/tr>\n |
| 181460<\/td> | SM1<\/td> | Schistosoma mansoni infection, susceptibility\/resistance to<\/td>\n<\/tr>\n |
| 604201<\/td> | SM2<\/td> | Hepatic fibrosis susceptibility due to Schistosoma mansoni infection<\/td>\n<\/tr>\n |
| 601366<\/td> | SMAD2<\/td> | Loeys-Dietz syndrome 6; Congenital heart defects, multiple types, 8, with or without heterotaxy<\/td>\n<\/tr>\n |
| 603109<\/td> | SMAD3<\/td> | Loeys-Dietz syndrome 3<\/td>\n<\/tr>\n |
| 600993<\/td> | SMAD4<\/td> | Pancreatic cancer, somatic; Myhre syndrome; Polyposis, juvenile intestinal; Juvenile polyposis\/hereditary hemorrhagic telangiectasia syndrome<\/td>\n<\/tr>\n |
| 602931<\/td> | SMAD6<\/td> | Aortic valve disease 2; Radioulnar synostosis, nonsyndromic; Craniosynostosis 7, susceptibility to<\/td>\n<\/tr>\n |
| 602932<\/td> | SMAD7<\/td> | Colorectal cancer, susceptibility to, 3<\/td>\n<\/tr>\n |
| 603295<\/td> | SMAD9<\/td> | Pulmonary hypertension, primary, 2<\/td>\n<\/tr>\n |
| 607088<\/td> | SMAR<\/td> | Neuronopathy, distal hereditary motor 3<\/td>\n<\/tr>\n |
| 600014<\/td> | SMARCA2<\/td> | Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome<\/td>\n<\/tr>\n |
| 603254<\/td> | SMARCA4<\/td> | Coffin-Siris syndrome 4; Rhabdoid tumor predisposition syndrome 2; Otosclerosis 12<\/td>\n<\/tr>\n |
| 612761<\/td> | SMARCAD1<\/td> | Basan syndrome; Huriez syndrome; Adermatoglyphia<\/td>\n<\/tr>\n |
| 606622<\/td> | SMARCAL1<\/td> | Schimke immunoosseous dysplasia<\/td>\n<\/tr>\n |
| 601607<\/td> | SMARCB1<\/td> | Rhabdoid tumors, somatic; Schwannomatosis-1, susceptibility to; Coffin-Siris syndrome 3; Rhabdoid tumor predisposition syndrome 1<\/td>\n<\/tr>\n |
| 601732<\/td> | SMARCC1<\/td> | Hydrocephalus, congenital, 5, susceptibility to<\/td>\n<\/tr>\n |
| 601734<\/td> | SMARCC2<\/td> | Coffin-Siris syndrome 8<\/td>\n<\/tr>\n |
| 601735<\/td> | SMARCD1<\/td> | Coffin-Siris syndrome 11<\/td>\n<\/tr>\n |
| 601736<\/td> | SMARCD2<\/td> | Specific granule deficiency 2<\/td>\n<\/tr>\n |
| 603111<\/td> | SMARCE1<\/td> | Meningioma, familial, susceptibility to; Coffin-Siris syndrome 5<\/td>\n<\/tr>\n |
| 300040<\/td> | SMC1A<\/td> | Cornelia de Lange syndrome 2, X-linked dominant; Developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant<\/td>\n<\/tr>\n |
| 606062<\/td> | SMC3<\/td> | Cornelia de Lange syndrome 3<\/td>\n<\/tr>\n |
| 609386<\/td> | SMC5<\/td> | Atelis syndrome 2<\/td>\n<\/tr>\n |
| 614982<\/td> | SMCHD1<\/td> | Facioscapulohumeral muscular dystrophy 2, digenic, Digenic dominant; Bosma arhinia microphthalmia syndrome<\/td>\n<\/tr>\n |
| 613175<\/td> | SMG8<\/td> | Alzahrani-Kuwahara syndrome<\/td>\n<\/tr>\n |
| 613176<\/td> | SMG9<\/td> | Heart and brain malformation syndrome; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies<\/td>\n<\/tr>\n |
| 615242<\/td> | SMIM1<\/td> | Blood group, Vel system<\/td>\n<\/tr>\n |
| 600354<\/td> | SMN1<\/td> | Spinal muscular atrophy-2; Spinal muscular atrophy-4; Spinal muscular atrophy-3; Spinal muscular atrophy-1<\/td>\n<\/tr>\n |
| 601627<\/td> | SMN2<\/td> | Spinal muscular atrophy, type III, modifier of<\/td>\n<\/tr>\n |
| 601500<\/td> | SMO<\/td> | Pallister-Hall-like syndrome; Basal cell carcinoma, somatic; Curry-Jones syndrome, somatic mosaic<\/td>\n<\/tr>\n |
| 608488<\/td> | SMOC1<\/td> | Microphthalmia with limb anomalies<\/td>\n<\/tr>\n |
| 607223<\/td> | SMOC2<\/td> | Dentin dysplasia, type I, with microdontia and misshapen teeth<\/td>\n<\/tr>\n |
| 607608<\/td> | SMPD1<\/td> | Niemann-Pick disease, type B; Niemann-Pick disease, type A<\/td>\n<\/tr>\n |
| 610457<\/td> | SMPD4<\/td> | Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies<\/td>\n<\/tr>\n |
| 300226<\/td> | SMPX<\/td> | Myopathy, distal, 7, adult-onset, X-linked, X-linked recessive; Deafness, X-linked 4, X-linked dominant<\/td>\n<\/tr>\n |
| 300105<\/td> | SMS<\/td> | Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive<\/td>\n<\/tr>\n |
| 600322<\/td> | SNAP25<\/td> | Myasthenic syndrome, congenital, 18<\/td>\n<\/tr>\n |
| 604202<\/td> | SNAP29<\/td> | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome<\/td>\n<\/tr>\n |
| 602777<\/td> | SNAPC4<\/td> | Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction<\/td>\n<\/tr>\n |
| 163890<\/td> | SNCA<\/td> | Dementia, Lewy body; Parkinson disease 1; Parkinson disease 4<\/td>\n<\/tr>\n |
| 602569<\/td> | SNCB<\/td> | Dementia, Lewy body<\/td>\n<\/tr>\n |
| 610904<\/td> | SNF8<\/td> | Developmental and epileptic encephalopathy 115; Neurodevelopmental disorder plus optic atrophy<\/td>\n<\/tr>\n |
| 608241<\/td> | SNIP1<\/td> | Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures<\/td>\n<\/tr>\n |
| 619378<\/td> | SNORA31<\/td> | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10<\/td>\n<\/tr>\n |
| 616663<\/td> | SNORD118<\/td> | Leukoencephalopathy, brain calcifications, and cysts<\/td>\n<\/tr>\n |
| 601664<\/td> | SNRNP200<\/td> | Retinitis pigmentosa 33<\/td>\n<\/tr>\n |
| 182282<\/td> | SNRPB<\/td> | Cerebrocostomandibular syndrome<\/td>\n<\/tr>\n |
| 128260<\/td> | SNRPE<\/td> | Hypotrichosis 11<\/td>\n<\/tr>\n |
| 601017<\/td> | SNTA1<\/td> | Long QT syndrome 12<\/td>\n<\/tr>\n |
| 607902<\/td> | SNUPN<\/td> | Muscular dystrophy, limb-girdle 29<\/td>\n<\/tr>\n |
| 614780<\/td> | SNX10<\/td> | Osteopetrosis 8<\/td>\n<\/tr>\n |
| 616105<\/td> | SNX14<\/td> | Spinocerebellar ataxia 20<\/td>\n<\/tr>\n |
| 613667<\/td> | SOBP<\/td> | Impaired intellectual development, anterior maxillary protrusion, and strabismus<\/td>\n<\/tr>\n |
| 603597<\/td> | SOCS1<\/td> | Autoinflammatory syndrome, familial, with or without immunodeficiency<\/td>\n<\/tr>\n |
| 147450<\/td> | SOD1<\/td> | Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclerosis 1<\/td>\n<\/tr>\n |
| 147460<\/td> | SOD2<\/td> | Microvascular complications of diabetes 6<\/td>\n<\/tr>\n |
| 185490<\/td> | SOD3<\/td> | Superoxide dismutase, elevated extracellular<\/td>\n<\/tr>\n |
| 610224<\/td> | SOHLH1<\/td> | Ovarian dysgenesis 5; Spermatogenic failure 32<\/td>\n<\/tr>\n |
| 182465<\/td> | SON<\/td> | ZTTK syndrome<\/td>\n<\/tr>\n |
| 182500<\/td> | SORD<\/td> | Neuronopathy, distal hereditary motor 8<\/td>\n<\/tr>\n |
| 602458<\/td> | SORT1<\/td> | Low density lipoprotein cholesterol level QTL6<\/td>\n<\/tr>\n |
| 182530<\/td> | SOS1<\/td> | Noonan syndrome 4; Fibromatosis, gingival, 1<\/td>\n<\/tr>\n |
| 601247<\/td> | SOS2<\/td> | Noonan syndrome 9<\/td>\n<\/tr>\n |
| 605740<\/td> | SOST<\/td> | Sclerosteosis 1; Craniodiaphyseal dysplasia<\/td>\n<\/tr>\n |
| 602229<\/td> | SOX10<\/td> | Waardenburg syndrome, type 4C; PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement<\/td>\n<\/tr>\n |
| 600898<\/td> | SOX11<\/td> | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism<\/td>\n<\/tr>\n |
| 610928<\/td> | SOX17<\/td> | Vesicoureteral reflux 3<\/td>\n<\/tr>\n |
| 601618<\/td> | SOX18<\/td> | Hypotrichosis-lymphedema-telangiectasia syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome<\/td>\n<\/tr>\n |
| 184429<\/td> | SOX2<\/td> | Optic nerve hypoplasia and abnormalities of the central nervous system; Microphthalmia, syndromic 3<\/td>\n<\/tr>\n |
| 313430<\/td> | SOX3<\/td> | Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency; Panhypopituitarism, X-linked, X-linked<\/td>\n<\/tr>\n |
| 184430<\/td> | SOX4<\/td> | Coffin-Siris syndrome 10<\/td>\n<\/tr>\n |
| 604975<\/td> | SOX5<\/td> | Lamb-Shaffer syndrome<\/td>\n<\/tr>\n |
| 607257<\/td> | SOX6<\/td> | Tolchin-Le Caignec syndrome<\/td>\n<\/tr>\n |
| 608160<\/td> | SOX9<\/td> | Campomelic dysplasia with autosomal sex reversal; Acampomelic campomelic dysplasia; Campomelic dysplasia<\/td>\n<\/tr>\n |
| 604457<\/td> | SP110<\/td> | Mycobacterium tuberculosis, susceptibility to; Hepatic venoocclusive disease with immunodeficiency<\/td>\n<\/tr>\n |
| 608613<\/td> | SP6<\/td> | Amelogenesis imperfecta, type IK<\/td>\n<\/tr>\n |
| 606633<\/td> | SP7<\/td> | Osteogenesis imperfecta, type XII<\/td>\n<\/tr>\n |
| 612739<\/td> | SPACA1<\/td> | Spermatogenic failure 85<\/td>\n<\/tr>\n |
| 603395<\/td> | SPAG1<\/td> | Ciliary dyskinesia, primary, 28<\/td>\n<\/tr>\n |
| 616554<\/td> | SPAG17<\/td> | Spermatogenic failure 55<\/td>\n<\/tr>\n |
| 182120<\/td> | SPARC<\/td> | Osteogenesis imperfecta, type XVII<\/td>\n<\/tr>\n |
| 607111<\/td> | SPART<\/td> | Troyer syndrome<\/td>\n<\/tr>\n |
| 604277<\/td> | SPAST<\/td> | Spastic paraplegia 4<\/td>\n<\/tr>\n |
| 609856<\/td> | SPATA16<\/td> | Spermatogenic failure 6<\/td>\n<\/tr>\n |
| 609868<\/td> | SPATA7<\/td> | Leber congenital amaurosis 3; Retinitis pigmentosa 94, variable age at onset<\/td>\n<\/tr>\n |
| 610234<\/td> | SPD3<\/td> | Synpolydactyly 3<\/td>\n<\/tr>\n |
| 183840<\/td> | SPDA2<\/td> | Spondyloarthropathy, susceptibility to, 2<\/td>\n<\/tr>\n |
| 613238<\/td> | SPDA3<\/td> | Spondyloarthropathy, susceptibility to, 3<\/td>\n<\/tr>\n |
| 184100<\/td> | SPDT<\/td> | Spondyloepiphyseal dysplasia tarda<\/td>\n<\/tr>\n |
| 614140<\/td> | SPECC1L<\/td> | Teebi hypertelorism syndrome 1; Facial clefting, oblique, 1<\/td>\n<\/tr>\n |
| 610172<\/td> | SPEF2<\/td> | Spermatogenic failure 43<\/td>\n<\/tr>\n |
| 615950<\/td> | SPEG<\/td> | Centronuclear myopathy 5<\/td>\n<\/tr>\n |
| 613484<\/td> | SPEN<\/td> | Radio-Tartaglia syndrome<\/td>\n<\/tr>\n |
| 610844<\/td> | SPG11<\/td> | Amyotrophic lateral sclerosis 5, juvenile; Charcot-Marie-Tooth disease, axonal, type 2X; Spastic paraplegia 11<\/td>\n<\/tr>\n |
| 605229<\/td> | SPG14<\/td> | Spastic paraplegia 14<\/td>\n<\/tr>\n |
| 300266<\/td> | SPG16<\/td> | Spastic paraplegia 16, X-linked, complicated, X-linked recessive<\/td>\n<\/tr>\n |
| 607152<\/td> | SPG19<\/td> | Spastic paraplegia 19<\/td>\n<\/tr>\n |
| 608181<\/td> | SPG21<\/td> | Mast syndrome<\/td>\n<\/tr>\n |
| 607584<\/td> | SPG24<\/td> | Spastic paraplegia 24<\/td>\n<\/tr>\n |
| 608220<\/td> | SPG25<\/td> | Spastic paraplegia 25<\/td>\n<\/tr>\n |
| 609041<\/td> | SPG27<\/td> | Spastic paraplegia 27<\/td>\n<\/tr>\n |
| 609727<\/td> | SPG29<\/td> | Spastic paraplegia 29<\/td>\n<\/tr>\n |
| 611252<\/td> | SPG32<\/td> | Spastic paraplegia 32<\/td>\n<\/tr>\n |
| 300750<\/td> | SPG34<\/td> | Spastic paraplegia 34, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 613096<\/td> | SPG36<\/td> | Spastic paraplegia 36<\/td>\n<\/tr>\n |
| 611945<\/td> | SPG37<\/td> | Spastic paraplegia 37<\/td>\n<\/tr>\n |
| 612335<\/td> | SPG38<\/td> | Spastic paraplegia 38<\/td>\n<\/tr>\n |
| 613364<\/td> | SPG41<\/td> | Spastic paraplegia 41<\/td>\n<\/tr>\n |
| 602783<\/td> | SPG7<\/td> | Spastic paraplegia 7<\/td>\n<\/tr>\n |
| 165170<\/td> | SPI1<\/td> | Agammaglobulinemia 10<\/td>\n<\/tr>\n |
| 615384<\/td> | SPIDR<\/td> | Ovarian dysgenesis 9<\/td>\n<\/tr>\n |
| 301113<\/td> | SPIN4<\/td> | Lui-Jee-Baron syndrome, X-linked<\/td>\n<\/tr>\n |
| 167790<\/td> | SPINK1<\/td> | Tropical calcific pancreatitis; Pancreatitis, hereditary; Fibrocalculous pancreatic diabetes, susceptibility to<\/td>\n<\/tr>\n |
| 605753<\/td> | SPINK2<\/td> | Spermatogenic failure 29<\/td>\n<\/tr>\n |
| 605010<\/td> | SPINK5<\/td> | Netherton syndrome<\/td>\n<\/tr>\n |
| 605124<\/td> | SPINT2<\/td> | Diarrhea 3, secretory sodium, congenital, syndromic<\/td>\n<\/tr>\n |
| 612584<\/td> | SPNS2<\/td> | Deafness 115<\/td>\n<\/tr>\n |
| 602650<\/td> | SPOP<\/td> | Nabais Sa-de Vries syndrome, type 1; Nabais Sa-de Vries syndrome, type 2<\/td>\n<\/tr>\n |
| 608238<\/td> | SPPL2A<\/td> | Immunodeficiency 86, mycobacteriosis<\/td>\n<\/tr>\n |
| 182125<\/td> | SPR<\/td> | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, Autosomal dominant<\/td>\n<\/tr>\n |
| 609291<\/td> | SPRED1<\/td> | Legius syndrome<\/td>\n<\/tr>\n |
| 609292<\/td> | SPRED2<\/td> | Noonan syndrome 14<\/td>\n<\/tr>\n |
| 616086<\/td> | SPRTN<\/td> | Ruijs-Aalfs syndrome<\/td>\n<\/tr>\n |
| 602466<\/td> | SPRY2<\/td> | IgA nephropathy, susceptibility to, 3<\/td>\n<\/tr>\n |
| 607984<\/td> | SPRY4<\/td> | Hypogonadotropic hypogonadism 17 with or without anosmia<\/td>\n<\/tr>\n |
| 182860<\/td> | SPTA1<\/td> | Spherocytosis, type 3; Elliptocytosis-2; Pyropoikilocytosis<\/td>\n<\/tr>\n |
| 182810<\/td> | SPTAN1<\/td> | Developmental delay with or without epilepsy; Developmental and epileptic encephalopathy 5; Spastic paraplegia 91, with or without cerebellar ataxia; Neuronopathy, distal hereditary motor 11<\/td>\n<\/tr>\n |
| 182870<\/td> | SPTB<\/td> | Anemia, neonatal hemolytic, fatal or near-fatal; Elliptocytosis-3; Spherocytosis, type 2<\/td>\n<\/tr>\n |
| 182790<\/td> | SPTBN1<\/td> | Developmental delay, impaired speech, and behavioral abnormalities<\/td>\n<\/tr>\n |
| 604985<\/td> | SPTBN2<\/td> | Spinocerebellar ataxia 5; Spinocerebellar ataxia 14<\/td>\n<\/tr>\n |
| 606214<\/td> | SPTBN4<\/td> | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness<\/td>\n<\/tr>\n |
| 605712<\/td> | SPTLC1<\/td> | Amyotrophic lateral sclerosis 27, juvenile; Neuropathy, hereditary sensory and autonomic, type IA<\/td>\n<\/tr>\n |
| 605713<\/td> | SPTLC2<\/td> | Neuropathy, hereditary sensory and autonomic, type IC<\/td>\n<\/tr>\n |
| 613540<\/td> | SPTSSA<\/td> | Spastic paraplegia 90A; Spastic paraplegia 90B<\/td>\n<\/tr>\n |
| 617658<\/td> | SQOR<\/td> | Sulfide:quinone oxidoreductase deficiency<\/td>\n<\/tr>\n |
| 601530<\/td> | SQSTM1<\/td> | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Frontotemporal dementia and\/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles; Paget disease of bone 3<\/td>\n<\/tr>\n |
| 611003<\/td> | SQTL1<\/td> | Smoking as a quantitative trait locus 1<\/td>\n<\/tr>\n |
| 611004<\/td> | SQTL2<\/td> | Smoking as a quantitative trait locus 2<\/td>\n<\/tr>\n |
| 190090<\/td> | SRC<\/td> | Thrombocytopenia 6; Colon cancer, advanced, somatic<\/td>\n<\/tr>\n |
| 611421<\/td> | SRCAP<\/td> | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities; Floating-Harbor syndrome<\/td>\n<\/tr>\n |
| 607306<\/td> | SRD5A2<\/td> | Pseudovaginal perineoscrotal hypospadias<\/td>\n<\/tr>\n |
| 611715<\/td> | SRD5A3<\/td> | Kahrizi syndrome; Congenital disorder of glycosylation, type Iq<\/td>\n<\/tr>\n |
| 184756<\/td> | SREBF1<\/td> | Ichthyosis, follicular, with atrichia and photophobia syndrome 2; Mucoepithelial dysplasia, hereditary<\/td>\n<\/tr>\n |
| 606523<\/td> | SRGAP1<\/td> | Thyroid cancer, nonmedullary, 2, Somatic mutation<\/td>\n<\/tr>\n |
| 604857<\/td> | SRP54<\/td> | Neutropenia, severe congenital, 8<\/td>\n<\/tr>\n |
| 604858<\/td> | SRP68<\/td> | Neutropenia, severe congenital, 10<\/td>\n<\/tr>\n |
| 602122<\/td> | SRP72<\/td> | Bone marrow failure syndrome 1<\/td>\n<\/tr>\n |
| 300642<\/td> | SRPX2<\/td> | Rolandic epilepsy, impaired intellectual development, and speech dyspraxia<\/td>\n<\/tr>\n |
| 606032<\/td> | SRRM2<\/td> | Intellectual developmental disorder 72<\/td>\n<\/tr>\n |
| 600812<\/td> | SRSF1<\/td> | Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities<\/td>\n<\/tr>\n |
| 480000<\/td> | SRY<\/td> | 46XY sex reversal 1, Y-linked; 46XX sex reversal 1, X-linked dominant<\/td>\n<\/tr>\n |
| 600192<\/td> | SS18<\/td> | Sarcoma, synovial<\/td>\n<\/tr>\n |
| 612388<\/td> | SS3<\/td> | Sarcoidosis, susceptibility to, 3<\/td>\n<\/tr>\n |
| 600439<\/td> | SSBP1<\/td> | Optic atrophy 13 with retinal and foveal abnormalities<\/td>\n<\/tr>\n |
| 608445<\/td> | SSD<\/td> | Speech-sound disorder<\/td>\n<\/tr>\n |
| 300090<\/td> | SSR4<\/td> | Congenital disorder of glycosylation, type Iy, X-linked recessive<\/td>\n<\/tr>\n |
| 312820<\/td> | SSX1<\/td> | Spermatogenic failure, X-linked, 5, X-linked<\/td>\n<\/tr>\n |
| 300192<\/td> | SSX2<\/td> | Sarcoma, synovial<\/td>\n<\/tr>\n |
| 606797<\/td> | ST14<\/td> | Ichthyosis, congenital 11<\/td>\n<\/tr>\n |
| 191181<\/td> | ST3<\/td> | Cervical carcinoma<\/td>\n<\/tr>\n |
| 606494<\/td> | ST3GAL3<\/td> | Developmental and epileptic encephalopathy 15; Intellectual developmental disorder 12<\/td>\n<\/tr>\n |
| 604402<\/td> | ST3GAL5<\/td> | Salt and pepper developmental regression syndrome<\/td>\n<\/tr>\n |
| 608560<\/td> | STAB1<\/td> | Hyperferritinemia<\/td>\n<\/tr>\n |
| 615521<\/td> | STAC3<\/td> | Congenital myopathy 13<\/td>\n<\/tr>\n |
| 604358<\/td> | STAG1<\/td> | Intellectual developmental disorder 47<\/td>\n<\/tr>\n |
| 300826<\/td> | STAG2<\/td> | Holoprosencephaly 13, X-linked, X-linked dominant, X-linked recessive; Mullegama-Klein-Martinez syndrome, X-linked<\/td>\n<\/tr>\n |
| 608489<\/td> | STAG3<\/td> | Spermatogenic failure 61; Premature ovarian failure 8<\/td>\n<\/tr>\n |
| 606247<\/td> | STAMBP<\/td> | Microcephaly-capillary malformation syndrome<\/td>\n<\/tr>\n |
| 600617<\/td> | STAR<\/td> | Lipoid adrenal hyperplasia<\/td>\n<\/tr>\n |
| 616712<\/td> | STARD7<\/td> | Epilepsy, familial adult myoclonic, 2<\/td>\n<\/tr>\n |
| 600555<\/td> | STAT1<\/td> | Immunodeficiency 31C, chronic mucocutaneous candidiasis; Immunodeficiency 31A, mycobacteriosis; Immunodeficiency 31B, mycobacterial and viral infections<\/td>\n<\/tr>\n |
| 600556<\/td> | STAT2<\/td> | Pseudo-TORCH syndrome 3; Immunodeficiency 44<\/td>\n<\/tr>\n |
| 102582<\/td> | STAT3<\/td> | Hyper-IgE syndrome 1, with recurrent infections; Autoimmune disease, multisystem, infantile-onset, 1<\/td>\n<\/tr>\n |
| 600558<\/td> | STAT4<\/td> | Disabling pansclerotic morphea of childhood; Systemic lupus erythematosus, susceptibility to, 11<\/td>\n<\/tr>\n |
| 604260<\/td> | STAT5B<\/td> | Growth hormone insensitivity with immune dysregulation 1; Growth hormone insensitivity with immune dysregulation 2; Leukemia, acute promyelocytic, somatic<\/td>\n<\/tr>\n |
| 601512<\/td> | STAT6<\/td> | Hyper-IgE syndrome 6, with recurrent infections<\/td>\n<\/tr>\n |
| 185100<\/td> | STBMS1<\/td> | Strabismus, susceptibility to, 1<\/td>\n<\/tr>\n |
| 609671<\/td> | STEAP3<\/td> | Anemia, hypochromic microcytic, with iron overload 2<\/td>\n<\/tr>\n |
| 301012<\/td> | STEEP1<\/td> | Intellectual developmental disorder, X-linked 107, X-linked<\/td>\n<\/tr>\n |
| 610926<\/td> | STHAG5<\/td> | Tooth agenesis, selective, 5<\/td>\n<\/tr>\n |
| 181590<\/td> | STIL<\/td> | Microcephaly 7, primary<\/td>\n<\/tr>\n |
| 605921<\/td> | STIM1<\/td> | Myopathy, tubular aggregate, 1; Stormorken syndrome; Immunodeficiency 10<\/td>\n<\/tr>\n |
| 612374<\/td> | STING1<\/td> | STING-associated vasculopathy, infantile-onset<\/td>\n<\/tr>\n |
| 602216<\/td> | STK11<\/td> | Melanoma, malignant, somatic; Pancreatic cancer, somatic; Peutz-Jeghers syndrome; Testicular tumor, somatic<\/td>\n<\/tr>\n |
| 607670<\/td> | STK33<\/td> | Spermatogenic failure 93<\/td>\n<\/tr>\n |
| 607652<\/td> | STK36<\/td> | Ciliary dyskinesia, primary, 46<\/td>\n<\/tr>\n |
| 604965<\/td> | STK4<\/td> | T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations<\/td>\n<\/tr>\n |
| 613128<\/td> | STN1<\/td> | Cerebroretinal microangiopathy with calcifications and cysts 2<\/td>\n<\/tr>\n |
| 609397<\/td> | STOX1<\/td> | Preeclampsia\/eclampsia 4<\/td>\n<\/tr>\n |
| 612221<\/td> | STQTL10<\/td> | Stature QTL 10<\/td>\n<\/tr>\n |
| 612223<\/td> | STQTL11<\/td> | Stature QTL 11<\/td>\n<\/tr>\n |
| 612224<\/td> | STQTL12<\/td> | Stature QTL 12<\/td>\n<\/tr>\n |
| 612226<\/td> | STQTL13<\/td> | Stature QTL 13<\/td>\n<\/tr>\n |
| 612228<\/td> | STQTL14<\/td> | Stature QTL 14<\/td>\n<\/tr>\n |
| 612578<\/td> | STQTL15<\/td> | Stature QTL 15<\/td>\n<\/tr>\n |
| 612579<\/td> | STQTL16<\/td> | Stature QTL 16<\/td>\n<\/tr>\n |
| 612737<\/td> | STQTL17<\/td> | Stature QTL 17<\/td>\n<\/tr>\n |
| 612892<\/td> | STQTL18<\/td> | Stature QTL 18<\/td>\n<\/tr>\n |
| 612893<\/td> | STQTL19<\/td> | Stature QTL 19<\/td>\n<\/tr>\n |
| 606256<\/td> | STQTL2<\/td> | Stature QTL 2<\/td>\n<\/tr>\n |
| 612894<\/td> | STQTL20<\/td> | Stature QTL 20<\/td>\n<\/tr>\n |
| 613440<\/td> | STQTL21<\/td> | Stature QTL 21<\/td>\n<\/tr>\n |
| 613547<\/td> | STQTL22<\/td> | Stature QTL 22<\/td>\n<\/tr>\n |
| 613548<\/td> | STQTL23<\/td> | Stature QTL 23<\/td>\n<\/tr>\n |
| 613549<\/td> | STQTL24<\/td> | Stature QTL 24<\/td>\n<\/tr>\n |
| 606257<\/td> | STQTL3<\/td> | Stature QTL 3<\/td>\n<\/tr>\n |
| 606258<\/td> | STQTL4<\/td> | Stature QTL 4<\/td>\n<\/tr>\n |
| 608982<\/td> | STQTL5<\/td> | Stature QTL 5<\/td>\n<\/tr>\n |
| 300591<\/td> | STQTL6<\/td> | Stature QTL 6<\/td>\n<\/tr>\n |
| 609822<\/td> | STQTL7<\/td> | Stature QTL 7<\/td>\n<\/tr>\n |
| 610114<\/td> | STQTL8<\/td> | Stature QTL 8<\/td>\n<\/tr>\n |
| 610745<\/td> | STRA6<\/td> | Microphthalmia, syndromic 9; Microphthalmia, isolated, with coloboma 8<\/td>\n<\/tr>\n |
| 608626<\/td> | STRADA<\/td> | Polyhydramnios, megalencephaly, and symptomatic epilepsy<\/td>\n<\/tr>\n |
| 606440<\/td> | STRC<\/td> | Deafness 16<\/td>\n<\/tr>\n |
| 620900<\/td> | STRTS<\/td> | Hypothyroidism, congenital, nongoitrous, 3<\/td>\n<\/tr>\n |
| 300747<\/td> | STS<\/td> | Ichthyosis, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 601134<\/td> | STT3A<\/td> | Congenital disorder of glycosylation, type Iw; Congenital disorder of glycosylation, type Iw<\/td>\n<\/tr>\n |
| 608605<\/td> | STT3B<\/td> | Congenital disorder of glycosylation, type Ix<\/td>\n<\/tr>\n |
| 607207<\/td> | STUB1<\/td> | Spinocerebellar ataxia 48; Spinocerebellar ataxia 16<\/td>\n<\/tr>\n |
| 609261<\/td> | STUT2<\/td> | Stuttering, familial persistent, 2<\/td>\n<\/tr>\n |
| 614655<\/td> | STUT3<\/td> | Stuttering, familial persistent, 3<\/td>\n<\/tr>\n |
| 614668<\/td> | STUT4<\/td> | Stuttering, familial persistent, 4<\/td>\n<\/tr>\n |
| 605014<\/td> | STX11<\/td> | Hemophagocytic lymphohistiocytosis, familial, 4<\/td>\n<\/tr>\n |
| 603666<\/td> | STX16<\/td> | Pseudohypoparathyroidism Ib<\/td>\n<\/tr>\n |
| 601485<\/td> | STX1B<\/td> | Generalized epilepsy with febrile seizures plus, type 9<\/td>\n<\/tr>\n |
| 600876<\/td> | STX3<\/td> | Retinal dystrophy and microvillus inclusion disease; Diarrhea 12, with microvillus atrophy<\/td>\n<\/tr>\n |
| 186591<\/td> | STX4<\/td> | Deafness 123<\/td>\n<\/tr>\n |
| 603189<\/td> | STX5<\/td> | Congenital disorder of glycosylation, type IIaa<\/td>\n<\/tr>\n |
| 602926<\/td> | STXBP1<\/td> | Developmental and epileptic encephalopathy 4<\/td>\n<\/tr>\n |
| 601717<\/td> | STXBP2<\/td> | Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease<\/td>\n<\/tr>\n |
| 603921<\/td> | SUCLA2<\/td> | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)<\/td>\n<\/tr>\n |
| 611224<\/td> | SUCLG1<\/td> | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)<\/td>\n<\/tr>\n |
| 607035<\/td> | SUFU<\/td> | Meningioma, familial, susceptibility to; Joubert syndrome 32; Basal cell nevus syndrome 2; Medulloblastoma, Somatic mutation<\/td>\n<\/tr>\n |
| 609187<\/td> | SUGCT<\/td> | Glutaric aciduria III<\/td>\n<\/tr>\n |
| 604125<\/td> | SULT2B1<\/td> | Ichthyosis, congenital 14<\/td>\n<\/tr>\n |
| 607939<\/td> | SUMF1<\/td> | Multiple sulfatase deficiency<\/td>\n<\/tr>\n |
| 601912<\/td> | SUMO1<\/td> | Orofacial cleft 10, Isolated cases<\/td>\n<\/tr>\n |
| 608829<\/td> | SUMO4<\/td> | Diabetes mellitus, insulin-dependent, 5<\/td>\n<\/tr>\n |
| 613942<\/td> | SUN5<\/td> | Spermatogenic failure 16<\/td>\n<\/tr>\n |
| 606887<\/td> | SUOX<\/td> | Sulfite oxidase deficiency<\/td>\n<\/tr>\n |
| 605012<\/td> | SUPT16H<\/td> | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum<\/td>\n<\/tr>\n |
| 185620<\/td> | SURF1<\/td> | Charcot-Marie-Tooth disease, type 4K; Mitochondrial complex IV deficiency, nuclear type 1<\/td>\n<\/tr>\n |
| 606245<\/td> | SUZ12<\/td> | Imagawa-Matsumoto syndrome<\/td>\n<\/tr>\n |
| 185860<\/td> | SV2A<\/td> | Developmental and epileptic encephalopathy 113<\/td>\n<\/tr>\n |
| 617853<\/td> | SVBP<\/td> | Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly<\/td>\n<\/tr>\n |
| 604126<\/td> | SVIL<\/td> | Myofibrillar myopathy 10<\/td>\n<\/tr>\n |
| 613498<\/td> | SXGQTL1<\/td> | Sex hormone-binding globulin circulating level QTL 1<\/td>\n<\/tr>\n |
| 300179<\/td> | SXI2<\/td> | X inactivation, familial skewed, 2<\/td>\n<\/tr>\n |
| 611486<\/td> | SYCE1<\/td> | Spermatogenic failure 15; Premature ovarian failure 12<\/td>\n<\/tr>\n |
| 604105<\/td> | SYCP2<\/td> | Spermatogenic failure 1<\/td>\n<\/tr>\n |
| 616799<\/td> | SYCP2L<\/td> | Premature ovarian failure 24<\/td>\n<\/tr>\n |
| 604759<\/td> | SYCP3<\/td> | Pregnancy loss, recurrent, 4; Spermatogenic failure 4<\/td>\n<\/tr>\n |
| 600085<\/td> | SYK<\/td> | Immunodeficiency 82 with systemic inflammation<\/td>\n<\/tr>\n |
| 313440<\/td> | SYN1<\/td> | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, X-linked; Intellectual developmental disorder, X-linked 50, X-linked<\/td>\n<\/tr>\n |
| 600755<\/td> | SYN2<\/td> | Schizophrenia, susceptibility to<\/td>\n<\/tr>\n |
| 608441<\/td> | SYNE1<\/td> | Arthrogryposis multiplex congenita 3, myogenic type; Emery-Dreifuss muscular dystrophy 4; Spinocerebellar ataxia 8<\/td>\n<\/tr>\n |
| 608442<\/td> | SYNE2<\/td> | Emery-Dreifuss muscular dystrophy 5<\/td>\n<\/tr>\n |
| 615535<\/td> | SYNE4<\/td> | Deafness 76<\/td>\n<\/tr>\n |
| 603384<\/td> | SYNGAP1<\/td> | Intellectual developmental disorder 5<\/td>\n<\/tr>\n |
| 604297<\/td> | SYNJ1<\/td> | Parkinson disease 20, early-onset; Developmental and epileptic encephalopathy 53<\/td>\n<\/tr>\n |
| 612759<\/td> | SYNSTH<\/td> | Synesthesia<\/td>\n<\/tr>\n |
| 313475<\/td> | SYP<\/td> | Intellectual developmental disorder, X-linked 96, X-linked recessive<\/td>\n<\/tr>\n |
| 185605<\/td> | SYT1<\/td> | Baker-Gordon syndrome<\/td>\n<\/tr>\n |
| 610949<\/td> | SYT14<\/td> | Spinocerebellar ataxia 11<\/td>\n<\/tr>\n |
| 600104<\/td> | SYT2<\/td> | Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy; Myasthenic syndrome, congenital, 7B, presynaptic<\/td>\n<\/tr>\n |
| 615463<\/td> | SZT2<\/td> | Developmental and epileptic encephalopathy 18<\/td>\n<\/tr>\n |
| 605101<\/td> | TAB2<\/td> | Congenital heart defects, nonsyndromic, 2<\/td>\n<\/tr>\n |
| 162330<\/td> | TAC3<\/td> | Hypogonadotropic hypogonadism 10 with or without anosmia<\/td>\n<\/tr>\n |
| 612958<\/td> | TACO1<\/td> | Mitochondrial complex IV deficiency, nuclear type 8<\/td>\n<\/tr>\n |
| 162332<\/td> | TACR3<\/td> | Hypogonadotropic hypogonadism 11 with or without anosmia<\/td>\n<\/tr>\n |
| 137290<\/td> | TACSTD2<\/td> | Corneal dystrophy, gelatinous drop-like<\/td>\n<\/tr>\n |
| 313650<\/td> | TAF1<\/td> | Intellectual developmental disorder, X-linked syndromic 33, X-linked recessive; Dystonia-Parkinsonism, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 600774<\/td> | TAF13<\/td> | Intellectual developmental disorder 60<\/td>\n<\/tr>\n |
| 601574<\/td> | TAF15<\/td> | Chondrosarcoma, extraskeletal myxoid<\/td>\n<\/tr>\n |
| 604912<\/td> | TAF2<\/td> | Intellectual developmental disorder 40<\/td>\n<\/tr>\n |
| 601796<\/td> | TAF4<\/td> | Intellectual developmental disorder 73<\/td>\n<\/tr>\n |
| 601689<\/td> | TAF4B<\/td> | Spermatogenic failure 13<\/td>\n<\/tr>\n |
| 602955<\/td> | TAF6<\/td> | Alazami-Yuan syndrome<\/td>\n<\/tr>\n |
| 609514<\/td> | TAF8<\/td> | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy<\/td>\n<\/tr>\n |
| 300394<\/td> | TAFAZZIN<\/td> | Barth syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 187040<\/td> | TAL1<\/td> | Leukemia, T-cell acute lymphocytic, somatic<\/td>\n<\/tr>\n |
| 186855<\/td> | TAL2<\/td> | Leukemia, T-cell acute lymphocytic, somatic<\/td>\n<\/tr>\n |
| 602063<\/td> | TALDO1<\/td> | Transaldolase deficiency<\/td>\n<\/tr>\n |
| 159595<\/td> | TAM<\/td> | Leukemia, transient, of Down syndrome<\/td>\n<\/tr>\n |
| 614948<\/td> | TAMM41<\/td> | Combined oxidative phosphorylation deficiency 56<\/td>\n<\/tr>\n |
| 615047<\/td> | TANC2<\/td> | Intellectual developmental disorder with autistic features and language delay, with or without seizures<\/td>\n<\/tr>\n |
| 616830<\/td> | TANGO2<\/td> | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration<\/td>\n<\/tr>\n |
| 610266<\/td> | TAOK1<\/td> | Developmental delay with or without intellectual impairment or behavioral abnormalities<\/td>\n<\/tr>\n |
| 170260<\/td> | TAP1<\/td> | MHC class I deficiency 1<\/td>\n<\/tr>\n |
| 170261<\/td> | TAP2<\/td> | MHC class I deficiency 2<\/td>\n<\/tr>\n |
| 601962<\/td> | TAPBP<\/td> | MHC class I deficiency 3<\/td>\n<\/tr>\n |
| 612758<\/td> | TAPT1<\/td> | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type<\/td>\n<\/tr>\n |
| 106700<\/td> | TAPVR1<\/td> | Total anomalous pulmonary venous return<\/td>\n<\/tr>\n |
| 605078<\/td> | TARDBP<\/td> | Frontotemporal lobar degeneration, TARDBP-related; Amyotrophic lateral sclerosis 10, with or without FTD<\/td>\n<\/tr>\n |
| 187790<\/td> | TARS1<\/td> | Trichothiodystrophy 7, nonphotosensitive<\/td>\n<\/tr>\n |
| 612805<\/td> | TARS2<\/td> | Combined oxidative phosphorylation deficiency 21<\/td>\n<\/tr>\n |
| 604867<\/td> | TAS2R16<\/td> | Alcohol dependence, susceptibility to, Multifactorial; Beta-glycopyranoside tasting<\/td>\n<\/tr>\n |
| 607751<\/td> | TAS2R38<\/td> | Phenylthiocarbamide tasting<\/td>\n<\/tr>\n |
| 608270<\/td> | TASP1<\/td> | Suleiman-El-Hattab syndrome<\/td>\n<\/tr>\n |
| 613018<\/td> | TAT<\/td> | Tyrosinemia, type II<\/td>\n<\/tr>\n |
| 611663<\/td> | TBC1D20<\/td> | Warburg micro syndrome 4<\/td>\n<\/tr>\n |
| 617687<\/td> | TBC1D23<\/td> | Pontocerebellar hypoplasia, type 11<\/td>\n<\/tr>\n |
| 613577<\/td> | TBC1D24<\/td> | Deafness 86; Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer’s cramp; Myoclonic epilepsy, infantile, familial; Deafness 65; Developmental and epileptic encephalopathy 16; DOORS syndrome<\/td>\n<\/tr>\n |
| 619152<\/td> | TBC1D2B<\/td> | Neurodevelopmental disorder with seizures and gingival overgrowth<\/td>\n<\/tr>\n |
| 612465<\/td> | TBC1D4<\/td> | Diabetes mellitus, noninsulin-dependent, 5<\/td>\n<\/tr>\n |
| 612655<\/td> | TBC1D7<\/td> | Macrocephaly\/megalencephaly syndrome<\/td>\n<\/tr>\n |
| 301027<\/td> | TBC1D8B<\/td> | Nephrotic syndrome, type 20, X-linked<\/td>\n<\/tr>\n |
| 604649<\/td> | TBCD<\/td> | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum<\/td>\n<\/tr>\n |
| 604934<\/td> | TBCE<\/td> | Kenny-Caffey syndrome, type 1; Hypoparathyroidism-retardation-dysmorphism syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy<\/td>\n<\/tr>\n |
| 616899<\/td> | TBCK<\/td> | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3<\/td>\n<\/tr>\n |
| 604834<\/td> | TBK1<\/td> | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8; Frontotemporal dementia and\/or amyotrophic lateral sclerosis 4; Autoinflammation with arthritis and vasculitis<\/td>\n<\/tr>\n |
| 300196<\/td> | TBL1X<\/td> | Hypothyroidism, congenital, nongoitrous, 8, X-linked<\/td>\n<\/tr>\n |
| 608628<\/td> | TBL1XR1<\/td> | Intellectual developmental disorder 41; Pierpont syndrome<\/td>\n<\/tr>\n |
| 400033<\/td> | TBL1Y<\/td> | Deafness, Y-linked 2, Y-linked<\/td>\n<\/tr>\n |
| 600075<\/td> | TBP<\/td> | Spinocerebellar ataxia 17; Parkinson disease, susceptibility to, Multifactorial<\/td>\n<\/tr>\n |
| 604616<\/td> | TBR1<\/td> | Intellectual developmental disorder with autism and speech delay<\/td>\n<\/tr>\n |
| 602054<\/td> | TBX1<\/td> | Tetralogy of Fallot; DiGeorge syndrome; Conotruncal anomaly face syndrome; Velocardiofacial syndrome<\/td>\n<\/tr>\n |
| 604127<\/td> | TBX15<\/td> | Cousin syndrome<\/td>\n<\/tr>\n |
| 604613<\/td> | TBX18<\/td> | Congenital anomalies of kidney and urinary tract 2<\/td>\n<\/tr>\n |
| 604614<\/td> | TBX19<\/td> | Adrenocorticotropic hormone deficiency<\/td>\n<\/tr>\n |
| 600747<\/td> | TBX2<\/td> | Vertebral anomalies and variable endocrine and T-cell dysfunction<\/td>\n<\/tr>\n |
| 606061<\/td> | TBX20<\/td> | Atrial septal defect 4<\/td>\n<\/tr>\n |
| 604895<\/td> | TBX21<\/td> | Asthma and nasal polyps; Immunodeficiency 88; Asthma, aspirin-induced, susceptibility to<\/td>\n<\/tr>\n |
| 300307<\/td> | TBX22<\/td> | Cleft palate with ankyloglossia, X-linked; Abruzzo-Erickson syndrome, X-linked<\/td>\n<\/tr>\n |
| 601621<\/td> | TBX3<\/td> | Ulnar-mammary syndrome<\/td>\n<\/tr>\n |
| 601719<\/td> | TBX4<\/td> | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome<\/td>\n<\/tr>\n |
| 601620<\/td> | TBX5<\/td> | Holt-Oram syndrome<\/td>\n<\/tr>\n |
| 602427<\/td> | TBX6<\/td> | Spondylocostal dysostosis 5<\/td>\n<\/tr>\n |
| 188070<\/td> | TBXA2R<\/td> | Bleeding disorder, platelet-type, 13, susceptibility to<\/td>\n<\/tr>\n |
| 274180<\/td> | TBXAS1<\/td> | Ghosal hematodiaphyseal syndrome<\/td>\n<\/tr>\n |
| 601397<\/td> | TBXT<\/td> | Sacral agenesis with vertebral anomalies; Neural tube defects, susceptibility to<\/td>\n<\/tr>\n |
| 604488<\/td> | TCAP<\/td> | Cardiomyopathy, hypertrophic, 25; Muscular dystrophy, limb-girdle 7<\/td>\n<\/tr>\n |
| 300237<\/td> | TCEAL1<\/td> | Hijazi-Reis syndrome, X-linked dominant<\/td>\n<\/tr>\n |
| 600480<\/td> | TCF12<\/td> | Craniosynostosis 3; Hypogonadotropic hypogonadism 26 with or without anosmia<\/td>\n<\/tr>\n |
| 603107<\/td> | TCF20<\/td> | Developmental delay with variable intellectual impairment and behavioral abnormalities<\/td>\n<\/tr>\n |
| 147141<\/td> | TCF3<\/td> | Agammaglobulinemia 8B; Agammaglobulinemia 8A<\/td>\n<\/tr>\n |
| 602272<\/td> | TCF4<\/td> | Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3<\/td>\n<\/tr>\n |
| 602228<\/td> | TCF7L2<\/td> | Diabetes mellitus, type 2, susceptibility to<\/td>\n<\/tr>\n |
| 190370<\/td> | TCHH<\/td> | Uncombable hair syndrome 3<\/td>\n<\/tr>\n |
| 604592<\/td> | TCIRG1<\/td> | Osteopetrosis 1<\/td>\n<\/tr>\n |
| 186960<\/td> | TCL1A<\/td> | Leukemia\/lymphoma, T-cell<\/td>\n<\/tr>\n |
| 603769<\/td> | TCL1B<\/td> | Leukemia\/lymphoma, T-cell<\/td>\n<\/tr>\n |
| 613441<\/td> | TCN2<\/td> | Transcobalamin II deficiency<\/td>\n<\/tr>\n |
| 603386<\/td> | TCO<\/td> | Thyroid carcinoma, nonmedullary, with cell oxyphilia<\/td>\n<\/tr>\n |
| 606847<\/td> | TCOF1<\/td> | Treacher Collins syndrome 1<\/td>\n<\/tr>\n |
| 609863<\/td> | TCTN1<\/td> | Joubert syndrome 13<\/td>\n<\/tr>\n |
| 613846<\/td> | TCTN2<\/td> | Joubert syndrome 24; Meckel syndrome 8<\/td>\n<\/tr>\n |
| 613847<\/td> | TCTN3<\/td> | Joubert syndrome 18; Orofaciodigital syndrome IV<\/td>\n<\/tr>\n |
| 191070<\/td> | TDO2<\/td> | Hypertryptophanemia<\/td>\n<\/tr>\n |
| 607198<\/td> | TDP1<\/td> | Spinocerebellar ataxia, with axonal neuropathy 1<\/td>\n<\/tr>\n |
| 605764<\/td> | TDP2<\/td> | Spinocerebellar ataxia 23<\/td>\n<\/tr>\n |
| 611258<\/td> | TDRD7<\/td> | Cataract 36<\/td>\n<\/tr>\n |
| 617963<\/td> | TDRD9<\/td> | Spermatogenic failure 30<\/td>\n<\/tr>\n |
| 189967<\/td> | TEAD1<\/td> | Sveinsson chorioretinal atrophy<\/td>\n<\/tr>\n |
| 227050<\/td> | TEC<\/td> | Transient erythroblastopenia of childhood<\/td>\n<\/tr>\n |
| 615000<\/td> | TECPR2<\/td> | Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay<\/td>\n<\/tr>\n |
| 610057<\/td> | TECR<\/td> | Intellectual developmental disorder 14<\/td>\n<\/tr>\n |
| 617242<\/td> | TECRL<\/td> | Ventricular tachycardia, catecholaminergic polymorphic, 3<\/td>\n<\/tr>\n |
| 602574<\/td> | TECTA<\/td> | Deafness 8\/12; Deafness 21<\/td>\n<\/tr>\n |
| 616422<\/td> | TEFM<\/td> | Combined oxidative phosphorylation deficiency 58<\/td>\n<\/tr>\n |
| 600221<\/td> | TEK<\/td> | Venous malformations, multiple cutaneous and mucosal; Glaucoma 3, primary congenital, E<\/td>\n<\/tr>\n |
| 612683<\/td> | TEKT3<\/td> | Spermatogenic failure 81<\/td>\n<\/tr>\n |
| 187260<\/td> | TELAB1<\/td> | Telangiectasia, hereditary benign<\/td>\n<\/tr>\n |
| 609113<\/td> | TELM<\/td> | Telomere length, mean leukocyte<\/td>\n<\/tr>\n |
| 611140<\/td> | TELO2<\/td> | You-Hoover-Fong syndrome<\/td>\n<\/tr>\n |
| 610083<\/td> | TENM3<\/td> | Microphthalmia, syndromic 15; Microphthalmia\/coloboma 9<\/td>\n<\/tr>\n |
| 610084<\/td> | TENM4<\/td> | Essential tremor, hereditary, 5<\/td>\n<\/tr>\n |
| 611357<\/td> | TENT5A<\/td> | Osteogenesis imperfecta, type XVIII<\/td>\n<\/tr>\n |
| 617332<\/td> | TERB1<\/td> | Spermatogenic failure 60<\/td>\n<\/tr>\n |
| 617131<\/td> | TERB2<\/td> | Spermatogenic failure 59<\/td>\n<\/tr>\n |
| 602322<\/td> | TERC<\/td> | Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 2; Dyskeratosis congenita 1<\/td>\n<\/tr>\n |
| 187270<\/td> | TERT<\/td> | Dyskeratosis congenita 2; Dyskeratosis congenita 4; Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 1; Melanoma, cutaneous malignant, 9; Leukemia, acute myeloid, Somatic mutation<\/td>\n<\/tr>\n |
| 612839<\/td> | TET2<\/td> | Myelodysplastic syndrome, somatic; Immunodeficiency 75<\/td>\n<\/tr>\n |
| 613555<\/td> | TET3<\/td> | Beck-Fahrner syndrome<\/td>\n<\/tr>\n |
| 300311<\/td> | TEX11<\/td> | Spermatogenic failure, X-linked 2, X-linked recessive<\/td>\n<\/tr>\n |
| 605792<\/td> | TEX14<\/td> | Spermatogenic failure 23<\/td>\n<\/tr>\n |
| 605795<\/td> | TEX15<\/td> | Spermatogenic failure 25<\/td>\n<\/tr>\n |
| 190000<\/td> | TF<\/td> | Atransferrinemia<\/td>\n<\/tr>\n |
| 600438<\/td> | TFAM<\/td> | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)<\/td>\n<\/tr>\n |
| 107580<\/td> | TFAP2A<\/td> | Branchiooculofacial syndrome<\/td>\n<\/tr>\n |
| 601601<\/td> | TFAP2B<\/td> | Patent ductus arteriosus 2; Char syndrome<\/td>\n<\/tr>\n |
| 314310<\/td> | TFE3<\/td> | Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies, X-linked; Renal cell carcinoma, papillary, 1<\/td>\n<\/tr>\n |
| 602498<\/td> | TFG<\/td> | Spastic paraplegia 57; Hereditary motor and sensory neuropathy, Okinawa type<\/td>\n<\/tr>\n |
| 614193<\/td> | TFQTL2<\/td> | Transferrin serum level quantitative trait locus 2<\/td>\n<\/tr>\n |
| 604720<\/td> | TFR2<\/td> | Hemochromatosis, type 3<\/td>\n<\/tr>\n |
| 190010<\/td> | TFRC<\/td> | Immunodeficiency 46<\/td>\n<\/tr>\n |
| 188450<\/td> | TG<\/td> | Autoimmune thyroid disease, susceptibility to, 3; Thyroid dyshormonogenesis 3<\/td>\n<\/tr>\n |
| 300228<\/td> | TGCT1<\/td> | Testicular germ cell tumor<\/td>\n<\/tr>\n |
| 616146<\/td> | TGDS<\/td> | Catel-Manzke syndrome<\/td>\n<\/tr>\n |
| 190180<\/td> | TGFB1<\/td> | Inflammatory bowel disease, immunodeficiency, and encephalopathy; Camurati-Engelmann disease; Cystic fibrosis lung disease, modifier of<\/td>\n<\/tr>\n |
| 190220<\/td> | TGFB2<\/td> | Loeys-Dietz syndrome 4<\/td>\n<\/tr>\n |
| 190230<\/td> | TGFB3<\/td> | Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5<\/td>\n<\/tr>\n |
| 601692<\/td> | TGFBI<\/td> | Corneal dystrophy, Avellino type; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, Thiel-Behnke type; Corneal dystrophy, Groenouw type I; Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA<\/td>\n<\/tr>\n |
| 190181<\/td> | TGFBR1<\/td> | Multiple self-healing squamous epithelioma, susceptibility to; Loeys-Dietz syndrome 1<\/td>\n<\/tr>\n |
| 190182<\/td> | TGFBR2<\/td> | Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6; Esophageal cancer, somatic<\/td>\n<\/tr>\n |
| 602630<\/td> | TGIF1<\/td> | Holoprosencephaly 4<\/td>\n<\/tr>\n |
| 190195<\/td> | TGM1<\/td> | Ichthyosis, congenital 1<\/td>\n<\/tr>\n |
| 600238<\/td> | TGM3<\/td> | Uncombable hair syndrome 2<\/td>\n<\/tr>\n |
| 603805<\/td> | TGM5<\/td> | Peeling skin syndrome 2<\/td>\n<\/tr>\n |
| 613900<\/td> | TGM6<\/td> | Spinocerebellar ataxia 35<\/td>\n<\/tr>\n |
| 191290<\/td> | TH<\/td> | Segawa syndrome, recessive<\/td>\n<\/tr>\n |
| 609520<\/td> | THAP1<\/td> | Dystonia 6, torsion<\/td>\n<\/tr>\n |
| 609119<\/td> | THAP11<\/td> | Methylmalonic aciduria and homocystinuria, cblL type; Spinocerebellar ataxia 51<\/td>\n<\/tr>\n |
| 313850<\/td> | THAS<\/td> | Thoracoabdominal syndrome, X-linked<\/td>\n<\/tr>\n |
| 188040<\/td> | THBD<\/td> | Thrombophilia 12 due to thrombomodulin defect; Hemolytic uremic syndrome, atypical, susceptibility to, 6<\/td>\n<\/tr>\n |
| 188061<\/td> | THBS2<\/td> | Ehlers-Danlos syndrome, classic-like, 3; Lumbar disc herniation, susceptibility to<\/td>\n<\/tr>\n |
| 618802<\/td> | THG1L<\/td> | Spinocerebellar ataxia 28<\/td>\n<\/tr>\n |
| 275220<\/td> | THMA<\/td> | Tibial hemimelia<\/td>\n<\/tr>\n |
| 606930<\/td> | THOC1<\/td> | Deafness 86<\/td>\n<\/tr>\n |
| 300395<\/td> | THOC2<\/td> | Intellectual developmental disorder, X-linked 12, X-linked recessive<\/td>\n<\/tr>\n |
| 615403<\/td> | THOC6<\/td> | Beaulieu-Boycott-Innes syndrome<\/td>\n<\/tr>\n |
| 612348<\/td> | THPH9<\/td> | Thrombophilia 9 due to decreased release of tissue plasminogen<\/td>\n<\/tr>\n |
| 600044<\/td> | THPO<\/td> | Thrombocythemia 1; Thrombocytopenia 9; Amegakaryocytic thrombocytopenia, congenital, 2<\/td>\n<\/tr>\n |
| 190120<\/td> | THRA<\/td> | Hypothyroidism, congenital, nongoitrous, 6<\/td>\n<\/tr>\n |
| 190160<\/td> | THRB<\/td> | Thyroid hormone resistance; Thyroid hormone resistance; Thyroid hormone resistance, selective pituitary<\/td>\n<\/tr>\n |
| 616821<\/td> | THSD1<\/td> | Aneurysm, intracranial berry, 12; Lymphatic malformation 13<\/td>\n<\/tr>\n |
| 614476<\/td> | THSD4<\/td> | Aortic aneurysm, familial thoracic 12<\/td>\n<\/tr>\n |
| 616662<\/td> | THUMPD1<\/td> | Neurodevelopmental disorder with speech delay and variable ocular anomalies<\/td>\n<\/tr>\n |
| 603518<\/td> | TIA1<\/td> | Welander distal myopathy; Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia<\/td>\n<\/tr>\n |
| 600687<\/td> | TIAM1<\/td> | Neurodevelopmental disorder with language delay and seizures<\/td>\n<\/tr>\n |
| 607601<\/td> | TICAM1<\/td> | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6<\/td>\n<\/tr>\n |
| 600222<\/td> | TIE1<\/td> | Lymphatic malformation 11<\/td>\n<\/tr>\n |
| 603887<\/td> | TIMELESS<\/td> | Advance sleep phase syndrome, familial, 4<\/td>\n<\/tr>\n |
| 607251<\/td> | TIMM22<\/td> | Combined oxidative phosphorylation deficiency 43<\/td>\n<\/tr>\n |
| 607381<\/td> | TIMM50<\/td> | 3-methylglutaconic aciduria, type IX<\/td>\n<\/tr>\n |
| 300356<\/td> | TIMM8A<\/td> | Mohr-Tranebjaerg syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 615534<\/td> | TIMMDC1<\/td> | Mitochondrial complex I deficiency, nuclear type 31<\/td>\n<\/tr>\n |
| 188826<\/td> | TIMP3<\/td> | Sorsby fundus dystrophy<\/td>\n<\/tr>\n |
| 604319<\/td> | TINF2<\/td> | Dyskeratosis congenita 3; Revesz syndrome<\/td>\n<\/tr>\n |
| 606252<\/td> | TIRAP<\/td> | Malaria, protection against; Tuberculosis, protection against; Bacteremia, protection against<\/td>\n<\/tr>\n |
| 607709<\/td> | TJP2<\/td> | Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic 4<\/td>\n<\/tr>\n |
| 188250<\/td> | TK2<\/td> | Mitochondrial DNA depletion syndrome 2 (myopathic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3<\/td>\n<\/tr>\n |
| 314300<\/td> | TKCR<\/td> | Goeminne TKCR syndrome, X-linked<\/td>\n<\/tr>\n |
| 615844<\/td> | TKFC<\/td> | Triokinase and FMN cyclase deficiency syndrome<\/td>\n<\/tr>\n |
| 606781<\/td> | TKT<\/td> | Short stature, developmental delay, and congenital heart defects<\/td>\n<\/tr>\n |
| 615175<\/td> | TLCD3B<\/td> | Cone-rod dystrophy 22<\/td>\n<\/tr>\n |
| 612399<\/td> | TLE6<\/td> | Oocyte\/zygote\/embryo maturation arrest 15<\/td>\n<\/tr>\n |
| 608439<\/td> | TLK2<\/td> | Intellectual developmental disorder 57<\/td>\n<\/tr>\n |
| 606742<\/td> | TLL1<\/td> | Atrial septal defect 6<\/td>\n<\/tr>\n |
| 601194<\/td> | TLR1<\/td> | Leprosy, susceptibility to, 5; Leprosy, protection against<\/td>\n<\/tr>\n |
| 603028<\/td> | TLR2<\/td> | Colorectal cancer, susceptibility to, Somatic mutation; Leprosy, susceptibility to; Mycobacterium tuberculosis, susceptibility to<\/td>\n<\/tr>\n |
| 603029<\/td> | TLR3<\/td> | HIV1 infection, resistance to; Immunodeficiency 83, susceptibility to viral infections<\/td>\n<\/tr>\n |
| 603031<\/td> | TLR5<\/td> | Melioidosis, susceptibility to; Systemic lupus erythematosus, susceptibility to, 1; Systemic lupus erythematosus, resistance to; Legionnaire disease, susceptibility to<\/td>\n<\/tr>\n |
| 300365<\/td> | TLR7<\/td> | Immunodeficiency 74, COVID19-related, X-linked, X-linked recessive; Systemic lupus erythematosus 17, X-linked dominant<\/td>\n<\/tr>\n |
| 300366<\/td> | TLR8<\/td> | Immunodeficiency 98 with autoinflammation, X-linked, X-linked, Somatic mosaicism<\/td>\n<\/tr>\n |
| 615404<\/td> | TM4SF20<\/td> | Specific language impairment 5<\/td>\n<\/tr>\n |
| 606706<\/td> | TMC1<\/td> | Deafness 36; Deafness 7<\/td>\n<\/tr>\n |
| 605828<\/td> | TMC6<\/td> | Epidermodysplasia verruciformis, susceptibility to, 1<\/td>\n<\/tr>\n |
| 605829<\/td> | TMC8<\/td> | Epidermodysplasia verruciformis, susceptibility to, 2<\/td>\n<\/tr>\n |
| 614123<\/td> | TMCO1<\/td> | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1<\/td>\n<\/tr>\n |
| 613413<\/td> | TMEM106B<\/td> | Leukodystrophy, hypomyelinating, 16<\/td>\n<\/tr>\n |
| 616183<\/td> | TMEM107<\/td> | Orofaciodigital syndrome XVI; Meckel syndrome 13; Joubert syndrome 29<\/td>\n<\/tr>\n |
| 612988<\/td> | TMEM126A<\/td> | Optic atrophy 7<\/td>\n<\/tr>\n |
| 615533<\/td> | TMEM126B<\/td> | Mitochondrial complex I deficiency, nuclear type 29<\/td>\n<\/tr>\n |
| 613403<\/td> | TMEM127<\/td> | Pheochromocytoma, susceptibility to<\/td>\n<\/tr>\n |
| 616178<\/td> | TMEM132E<\/td> | Deafness 99<\/td>\n<\/tr>\n |
| 614459<\/td> | TMEM138<\/td> | Joubert syndrome 16<\/td>\n<\/tr>\n |
| 613585<\/td> | TMEM147<\/td> | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly<\/td>\n<\/tr>\n |
| 620108<\/td> | TMEM151A<\/td> | Episodic kinesigenic dyskinesia 3<\/td>\n<\/tr>\n |
| 618978<\/td> | TMEM163<\/td> | Leukodystrophy, hypomyelinating, 25<\/td>\n<\/tr>\n |
| 614726<\/td> | TMEM165<\/td> | Congenital disorder of glycosylation, type IIk<\/td>\n<\/tr>\n |
| 616815<\/td> | TMEM199<\/td> | Congenital disorder of glycosylation, type IIp<\/td>\n<\/tr>\n |
| 613277<\/td> | TMEM216<\/td> | Joubert syndrome 2; Meckel syndrome 2<\/td>\n<\/tr>\n |
| 619285<\/td> | TMEM218<\/td> | Joubert syndrome 39<\/td>\n<\/tr>\n |
| 619469<\/td> | TMEM222<\/td> | Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities<\/td>\n<\/tr>\n |
| 614949<\/td> | TMEM231<\/td> | Joubert syndrome 20; Meckel syndrome 11<\/td>\n<\/tr>\n |
| 614423<\/td> | TMEM237<\/td> | Joubert syndrome 14<\/td>\n<\/tr>\n |
| 616101<\/td> | TMEM240<\/td> | Spinocerebellar ataxia 21<\/td>\n<\/tr>\n |
| 617449<\/td> | TMEM260<\/td> | Structural heart defects and renal anomalies syndrome<\/td>\n<\/tr>\n |
| 611236<\/td> | TMEM38B<\/td> | Osteogenesis imperfecta, type XIV<\/td>\n<\/tr>\n |
| 612048<\/td> | TMEM43<\/td> | Arrhythmogenic right ventricular dysplasia 5; Auditory neuropathy 3; Emery-Dreifuss muscular dystrophy 7, AD<\/td>\n<\/tr>\n |
| 619722<\/td> | TMEM53<\/td> | Craniotubular dysplasia, Ikegawa type<\/td>\n<\/tr>\n |
| 618685<\/td> | TMEM63A<\/td> | Leukodystrophy, hypomyelinating, 19, transient infantile<\/td>\n<\/tr>\n |
| 619953<\/td> | TMEM63C<\/td> | Spastic paraplegia 87<\/td>\n<\/tr>\n |
| 609884<\/td> | TMEM67<\/td> | Nephronophthisis 11; Bardet-Biedl syndrome 14, modifier of; Joubert syndrome 6; Meckel syndrome 3; RHYNS syndrome; COACH syndrome 1<\/td>\n<\/tr>\n |
| 612418<\/td> | TMEM70<\/td> | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2<\/td>\n<\/tr>\n |
| 618163<\/td> | TMEM94<\/td> | Intellectual developmental disorder with cardiac defects and dysmorphic facies<\/td>\n<\/tr>\n |
| 615949<\/td> | TMEM98<\/td> | Nanophthalmos 4<\/td>\n<\/tr>\n |
| 607237<\/td> | TMIE<\/td> | Deafness 6<\/td>\n<\/tr>\n |
| 300777<\/td> | TMLHE<\/td> | Autism, susceptibility to, X-linked 6, X-linked recessive<\/td>\n<\/tr>\n |
| 606635<\/td> | TMPRSS15<\/td> | Enterokinase deficiency<\/td>\n<\/tr>\n |
| 605511<\/td> | TMPRSS3<\/td> | Deafness 8\/10<\/td>\n<\/tr>\n |
| 609862<\/td> | TMPRSS6<\/td> | Iron-refractory iron deficiency anemia<\/td>\n<\/tr>\n |
| 617218<\/td> | TMTC3<\/td> | Lissencephaly 8<\/td>\n<\/tr>\n |
| 618203<\/td> | TMTC4<\/td> | Deafness 122<\/td>\n<\/tr>\n |
| 616715<\/td> | TMX2<\/td> | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity<\/td>\n<\/tr>\n |
| 187380<\/td> | TNC<\/td> | Deafness 56<\/td>\n<\/tr>\n |
| 191160<\/td> | TNF<\/td> | Migraine without aura, susceptibility to; Dementia, vascular, susceptibility to; Asthma, susceptibility to; Septic shock, susceptibility to; Malaria, cerebral, susceptibility to<\/td>\n<\/tr>\n |
| 191163<\/td> | TNFAIP3<\/td> | Autoinflammatory syndrome, familial, Behcet-like 1<\/td>\n<\/tr>\n |
| 603612<\/td> | TNFRSF10B<\/td> | Squamous cell carcinoma, head and neck<\/td>\n<\/tr>\n |
| 603499<\/td> | TNFRSF11A<\/td> | Osteopetrosis 7; Paget disease of bone 2, early-onset; Osteolysis, familial expansile<\/td>\n<\/tr>\n |
| 602643<\/td> | TNFRSF11B<\/td> | Paget disease of bone 5, juvenile-onset<\/td>\n<\/tr>\n |
| 604907<\/td> | TNFRSF13B<\/td> | Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2<\/td>\n<\/tr>\n |
| 606269<\/td> | TNFRSF13C<\/td> | Immunodeficiency, common variable, 4<\/td>\n<\/tr>\n |
| 191190<\/td> | TNFRSF1A<\/td> | Multiple sclerosis, susceptibility to, 5; Periodic fever, familial<\/td>\n<\/tr>\n |
| 600315<\/td> | TNFRSF4<\/td> | Immunodeficiency 16<\/td>\n<\/tr>\n |
| 602250<\/td> | TNFRSF9<\/td> | Immunodeficiency 109 with lymphoproliferation<\/td>\n<\/tr>\n |
| 602642<\/td> | TNFSF11<\/td> | Osteopetrosis 2<\/td>\n<\/tr>\n |
| 603594<\/td> | TNFSF4<\/td> | Myocardial infarction, susceptibility to<\/td>\n<\/tr>\n |
| 610005<\/td> | TNIK<\/td> | Intellectual developmental disorder 54<\/td>\n<\/tr>\n |
| 191040<\/td> | TNNC1<\/td> | Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13<\/td>\n<\/tr>\n |
| 191039<\/td> | TNNC2<\/td> | Congenital myopathy 15<\/td>\n<\/tr>\n |
| 191043<\/td> | TNNI2<\/td> | Arthrogryposis, distal, type 2B1<\/td>\n<\/tr>\n |
| 191044<\/td> | TNNI3<\/td> | Cardiomyopathy, dilated, 2A; Cardiomyopathy, hypertrophic, 7; Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, dilated, 1FF<\/td>\n<\/tr>\n |
| 613932<\/td> | TNNI3K<\/td> | Cardiac conduction disease with or without dilated cardiomyopathy<\/td>\n<\/tr>\n |
| 191041<\/td> | TNNT1<\/td> | Nemaline myopathy 5C; Nemaline myopathy 5A, severe infantile; Nemaline myopathy 5B, childhood-onset<\/td>\n<\/tr>\n |
| 191045<\/td> | TNNT2<\/td> | Cardiomyopathy, dilated, 1D; Cardiomyopathy, hypertrophic, 2; Cardiomyopathy, familial restrictive, 3; Left ventricular noncompaction 6<\/td>\n<\/tr>\n |
| 600692<\/td> | TNNT3<\/td> | Arthrogryposis, distal, type 2B2<\/td>\n<\/tr>\n |
| 603002<\/td> | TNPO2<\/td> | Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies<\/td>\n<\/tr>\n |
| 610032<\/td> | TNPO3<\/td> | Muscular dystrophy, limb-girdle 2<\/td>\n<\/tr>\n |
| 601995<\/td> | TNR<\/td> | Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus<\/td>\n<\/tr>\n |
| 610739<\/td> | TNRC6A<\/td> | Epilepsy, familial adult myoclonic, 6<\/td>\n<\/tr>\n |
| 610740<\/td> | TNRC6B<\/td> | Global developmental delay with speech and behavioral abnormalities<\/td>\n<\/tr>\n |
| 600985<\/td> | TNXB<\/td> | Ehlers-Danlos syndrome, classic-like, 1; Vesicoureteral reflux 8<\/td>\n<\/tr>\n |
| 613931<\/td> | TOE1<\/td> | Pontocerebellar hypoplasia, type 7<\/td>\n<\/tr>\n |
| 617618<\/td> | TOGARAM1<\/td> | Joubert syndrome 37<\/td>\n<\/tr>\n |
| 604700<\/td> | TOM1<\/td> | Immunodeficiency 85 and autoimmunity<\/td>\n<\/tr>\n |
| 607980<\/td> | TOMM7<\/td> | Garg-Mishra progeroid syndrome<\/td>\n<\/tr>\n |
| 604546<\/td> | TONSL<\/td> | Spondyloepimetaphyseal dysplasia, sponastrime type<\/td>\n<\/tr>\n |
| 126420<\/td> | TOP1<\/td> | DNA topoisomerase I, camptothecin-resistant<\/td>\n<\/tr>\n |
| 126430<\/td> | TOP2A<\/td> | DNA topoisomerase II, resistance to inhibition of, by amsacrine<\/td>\n<\/tr>\n |
| 126431<\/td> | TOP2B<\/td> | B-cell immunodeficiency, distal limb anomalies, and urogenital malformations<\/td>\n<\/tr>\n |
| 601243<\/td> | TOP3A<\/td> | Microcephaly, growth restriction, and increased sister chromatid exchange 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions 5<\/td>\n<\/tr>\n |
| 616109<\/td> | TOP6BL<\/td> | Hydatidiform mole, recurrent, 4<\/td>\n<\/tr>\n |
| 609507<\/td> | TOPORS<\/td> | Retinitis pigmentosa 31<\/td>\n<\/tr>\n |
| 605204<\/td> | TOR1A<\/td> | Dystonia-1, modifier of; Arthrogryposis multiplex congenita 5; Dystonia-1, torsion<\/td>\n<\/tr>\n |
| 614512<\/td> | TOR1AIP1<\/td> | Muscular dystrophy, with rigid spine and distal joint contractures<\/td>\n<\/tr>\n |
| 191170<\/td> | TP53<\/td> | Basal cell carcinoma 7; Adrenocortical carcinoma, pediatric; Hepatocellular carcinoma, somatic; Breast cancer, somatic; Li-Fraumeni syndrome; Pancreatic cancer, somatic; Nasopharyngeal carcinoma, somatic; Osteosarcoma, Somatic mutation; Choroid plexus papilloma; Colorectal cancer, Somatic mutation; Glioma susceptibility 1, Somatic mutation; Bone marrow failure syndrome 5<\/td>\n<\/tr>\n |
| 608679<\/td> | TP53RK<\/td> | Galloway-Mowat syndrome 4<\/td>\n<\/tr>\n |
| 603273<\/td> | TP63<\/td> | Premature ovarian failure 21; Ectrodactyly, ectodermal dysplasia, and cleft lip\/palate syndrome 3; Hay-Wells syndrome; Split-hand\/foot malformation 4; Orofacial cleft 8; Rapp-Hodgkin syndrome; ADULT syndrome; Limb-mammary syndrome<\/td>\n<\/tr>\n |
| 601990<\/td> | TP73<\/td> | Ciliary dyskinesia, primary, 47, and lissencephaly<\/td>\n<\/tr>\n |
| 612163<\/td> | TPCN2<\/td> | Skin\/hair\/eye pigmentation 10, blond\/brown hair<\/td>\n<\/tr>\n |
| 607478<\/td> | TPH2<\/td> | Attention deficit-hyperactivity disorder, susceptibility to, 7; Unipolar depression, susceptibility to<\/td>\n<\/tr>\n |
| 190450<\/td> | TPI1<\/td> | Hemolytic anemia due to triosephosphate isomerase deficiency<\/td>\n<\/tr>\n |
| 606370<\/td> | TPK1<\/td> | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)<\/td>\n<\/tr>\n |
| 191010<\/td> | TPM1<\/td> | Left ventricular noncompaction 9; Cardiomyopathy, hypertrophic, 3; Cardiomyopathy, dilated, 1Y<\/td>\n<\/tr>\n |
| 190990<\/td> | TPM2<\/td> | Arthrogryposis, distal, type 2B4; Arthrogryposis, distal, type 1A; Congenital myopathy 23<\/td>\n<\/tr>\n |
| 191030<\/td> | TPM3<\/td> | Congenital myopathy 4A; Congenital myopathy 4B<\/td>\n<\/tr>\n |
| 600317<\/td> | TPM4<\/td> | Bleeding disorder, platelet-type, 25<\/td>\n<\/tr>\n |
| 187680<\/td> | TPMT<\/td> | Thiopurines, poor metabolism of, 1<\/td>\n<\/tr>\n |
| 606765<\/td> | TPO<\/td> | Thyroid dyshormonogenesis 2A<\/td>\n<\/tr>\n |
| 607998<\/td> | TPP1<\/td> | Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia 7<\/td>\n<\/tr>\n |
| 190470<\/td> | TPP2<\/td> | Immunodeficiency 78 with autoimmunity and developmental delay<\/td>\n<\/tr>\n |
| 189940<\/td> | TPR<\/td> | Intellectual developmental disorder 79<\/td>\n<\/tr>\n |
| 608680<\/td> | TPRKB<\/td> | Galloway-Mowat syndrome 5<\/td>\n<\/tr>\n |
| 613354<\/td> | TPRN<\/td> | Deafness 79<\/td>\n<\/tr>\n |
| 186880<\/td> | TRAC<\/td> | Immunodeficiency 7, TCR-alpha\/beta deficient<\/td>\n<\/tr>\n |
| 601896<\/td> | TRAF3<\/td> | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5<\/td>\n<\/tr>\n |
| 607380<\/td> | TRAF3IP1<\/td> | Senior-Loken syndrome 9<\/td>\n<\/tr>\n |
| 607043<\/td> | TRAF3IP2<\/td> | Candidiasis, familial, 8; Psoriasis susceptibility 13<\/td>\n<\/tr>\n |
| 606692<\/td> | TRAF7<\/td> | Cardiac, facial, and digital anomalies with developmental delay<\/td>\n<\/tr>\n |
| 605958<\/td> | TRAIP<\/td> | Seckel syndrome 9<\/td>\n<\/tr>\n |
| 608112<\/td> | TRAK1<\/td> | Developmental and epileptic encephalopathy 68<\/td>\n<\/tr>\n |
| 602103<\/td> | TRAPPC10<\/td> | Neurodevelopmental disorder with microcephaly, short stature, and speech delay<\/td>\n<\/tr>\n |
| 614138<\/td> | TRAPPC11<\/td> | Muscular dystrophy, limb-girdle 18<\/td>\n<\/tr>\n |
| 614139<\/td> | TRAPPC12<\/td> | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity<\/td>\n<\/tr>\n |
| 618350<\/td> | TRAPPC14<\/td> | Microcephaly 25, primary<\/td>\n<\/tr>\n |
| 300202<\/td> | TRAPPC2<\/td> | Spondyloepiphyseal dysplasia tarda, X-linked recessive<\/td>\n<\/tr>\n |
| 610970<\/td> | TRAPPC2L<\/td> | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis<\/td>\n<\/tr>\n |
| 610971<\/td> | TRAPPC4<\/td> | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy<\/td>\n<\/tr>\n |
| 610397<\/td> | TRAPPC6B<\/td> | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy<\/td>\n<\/tr>\n |
| 611966<\/td> | TRAPPC9<\/td> | Intellectual developmental disorder 13<\/td>\n<\/tr>\n |
| 603283<\/td> | TRDN<\/td> | Cardiac arrhythmia syndrome, with or without skeletal muscle weakness<\/td>\n<\/tr>\n |
| 275360<\/td> | TREH<\/td> | Trehalase deficiency<\/td>\n<\/tr>\n |
| 605086<\/td> | TREM2<\/td> | Alzhieimer disease 17, susceptibility to; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2<\/td>\n<\/tr>\n |
| 606609<\/td> | TREX1<\/td> | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations; Aicardi-Goutieres syndrome 1, dominant and recessive; Systemic lupus erythematosus, susceptibility to; Chilblain lupus<\/td>\n<\/tr>\n |
| 613879<\/td> | TRH<\/td> | Thyrotropin-releasing hormone deficiency<\/td>\n<\/tr>\n |
| 188545<\/td> | TRHR<\/td> | Hypothyroidism, congenital, nongoitrous, 7<\/td>\n<\/tr>\n |
| 609649<\/td> | TRICY1<\/td> | Trichilemmal cyst 1<\/td>\n<\/tr>\n |
| 614141<\/td> | TRIM2<\/td> | Charcot-Marie-Tooth disease, type 2R<\/td>\n<\/tr>\n |
| 602290<\/td> | TRIM32<\/td> | Bardet-Biedl syndrome 11; Muscular dystrophy, limb-girdle 8<\/td>\n<\/tr>\n |
| 609317<\/td> | TRIM36<\/td> | Anencephaly 1<\/td>\n<\/tr>\n |
| 605073<\/td> | TRIM37<\/td> | Mulibrey nanism<\/td>\n<\/tr>\n |
| 612298<\/td> | TRIM44<\/td> | Aniridia 3<\/td>\n<\/tr>\n |
| 618570<\/td> | TRIM71<\/td> | Hydrocephalus, congenital, 4<\/td>\n<\/tr>\n |
| 606125<\/td> | TRIM8<\/td> | Focal segmental glomerulosclerosis and neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 601893<\/td> | TRIO<\/td> | Intellectual developmental disorder 44, with microcephaly; Intellectual developmental disorder 63, with macrocephaly<\/td>\n<\/tr>\n |
| 609761<\/td> | TRIOBP<\/td> | Deafness 28<\/td>\n<\/tr>\n |
| 604505<\/td> | TRIP11<\/td> | Odontochondrodysplasia 1; Achondrogenesis, type IA<\/td>\n<\/tr>\n |
| 604506<\/td> | TRIP12<\/td> | Intellectual developmental disorder 49<\/td>\n<\/tr>\n |
| 604507<\/td> | TRIP13<\/td> | Oocyte\/zygote\/embryo maturation arrest 9; Mosaic variegated aneuploidy syndrome 3<\/td>\n<\/tr>\n |
| 604501<\/td> | TRIP4<\/td> | Muscular dystrophy, congenital, Davignon-Chauveau type; Spinal muscular atrophy with congenital bone fractures 1<\/td>\n<\/tr>\n |
| 617840<\/td> | TRIT1<\/td> | Combined oxidative phosphorylation deficiency 35<\/td>\n<\/tr>\n |
| 611669<\/td> | TRMT1<\/td> | Intellectual developmental disorder 68<\/td>\n<\/tr>\n |
| 616013<\/td> | TRMT10A<\/td> | Microcephaly, short stature, and impaired glucose metabolism 1<\/td>\n<\/tr>\n |
| 615423<\/td> | TRMT10C<\/td> | Combined oxidative phosphorylation deficiency 30<\/td>\n<\/tr>\n |
| 611023<\/td> | TRMT5<\/td> | Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay<\/td>\n<\/tr>\n |
| 610230<\/td> | TRMU<\/td> | Deafness, mitochondrial, modifier of, Mitochondrial; Liver failure, transient infantile<\/td>\n<\/tr>\n |
| 612907<\/td> | TRNT1<\/td> | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa and erythrocytic microcytosis<\/td>\n<\/tr>\n |
| 604775<\/td> | TRPA1<\/td> | Episodic pain syndrome, familial, 1<\/td>\n<\/tr>\n |
| 602345<\/td> | TRPC3<\/td> | Spinocerebellar ataxia 41<\/td>\n<\/tr>\n |
| 603652<\/td> | TRPC6<\/td> | Glomerulosclerosis, focal segmental, 2<\/td>\n<\/tr>\n |
| 603576<\/td> | TRPM1<\/td> | Night blindness, congenital stationary (complete), 1C<\/td>\n<\/tr>\n |
| 608961<\/td> | TRPM3<\/td> | Cataract 50 with or without glaucoma; Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures<\/td>\n<\/tr>\n |
| 606936<\/td> | TRPM4<\/td> | Progressive familial heart block, type IB; Erythrokeratodermia variabilis et progressiva 6<\/td>\n<\/tr>\n |
| 607009<\/td> | TRPM6<\/td> | Hypomagnesemia 1, intestinal<\/td>\n<\/tr>\n |
| 605692<\/td> | TRPM7<\/td> | Amyotrophic lateral sclerosis-parkinsonism\/dementia complex, susceptibility to<\/td>\n<\/tr>\n |
| 604386<\/td> | TRPS1<\/td> | Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal syndrome, type I<\/td>\n<\/tr>\n |
| 607066<\/td> | TRPV3<\/td> | Palmoplantar keratoderma, nonepidermolytic, focal 2; Olmsted syndrome 1<\/td>\n<\/tr>\n |
| 605427<\/td> | TRPV4<\/td> | Neuronopathy, distal hereditary motor 8; Spondylometaphyseal dysplasia, Kozlowski type; Digital arthropathy-brachydactyly, familial; Sodium serum level QTL 1; SED, Maroteaux type; Metatropic dysplasia; Scapuloperoneal spinal muscular atrophy; Hereditary motor and sensory neuropathy, type IIc; Avascular necrosis of femoral head, primary, 2; Parastremmatic dwarfism; Brachyolmia type 3<\/td>\n<\/tr>\n |
| 606680<\/td> | TRPV6<\/td> | Hyperparathyroidism, transient neonatal<\/td>\n<\/tr>\n |
| 603015<\/td> | TRRAP<\/td> | Deafness 75; Developmental delay with or without dysmorphic facies and autism<\/td>\n<\/tr>\n |
| 165060<\/td> | TRU-TCA1-1<\/td> | Thyroid hormone metabolism, abnormal, 3<\/td>\n<\/tr>\n |
| 605284<\/td> | TSC1<\/td> | Focal cortical dysplasia, type II, somatic; Tuberous sclerosis-1; Lymphangioleiomyomatosis<\/td>\n<\/tr>\n |
| 191092<\/td> | TSC2<\/td> | Lymphangioleiomyomatosis, somatic; Focal cortical dysplasia, type II, somatic; Tuberous sclerosis-2<\/td>\n<\/tr>\n |
| 608756<\/td> | TSEN15<\/td> | Pontocerebellar hypoplasia, type 2F<\/td>\n<\/tr>\n |
| 608753<\/td> | TSEN2<\/td> | Pontocerebellar hypoplasia type 2B<\/td>\n<\/tr>\n |
| 608754<\/td> | TSEN34<\/td> | Pontocerebellar hypoplasia type 2C<\/td>\n<\/tr>\n |
| 608755<\/td> | TSEN54<\/td> | Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 5<\/td>\n<\/tr>\n |
| 604723<\/td> | TSFM<\/td> | Combined oxidative phosphorylation deficiency 3<\/td>\n<\/tr>\n |
| 603040<\/td> | TSG11<\/td> | Nonsmall cell lung cancer<\/td>\n<\/tr>\n |
| 607166<\/td> | TSGA10<\/td> | Spermatogenic failure 26<\/td>\n<\/tr>\n |
| 188540<\/td> | TSHB<\/td> | Hypothyroidism, congenital, nongoitrous 4<\/td>\n<\/tr>\n |
| 612306<\/td> | TSHQTL1<\/td> | Thyroid-stimulating hormone level QTL 1<\/td>\n<\/tr>\n |
| 603372<\/td> | TSHR<\/td> | Hyperthyroidism, familial gestational; Hyperthyroidism, nonautoimmune; Thyroid adenoma, hyperfunctioning, somatic; Hypothyroidism, congenital, nongoitrous, 1; Thyroid carcinoma with thyrotoxicosis, somatic<\/td>\n<\/tr>\n |
| 614427<\/td> | TSHZ1<\/td> | Aural atresia, congenital<\/td>\n<\/tr>\n |
| 613138<\/td> | TSPAN12<\/td> | Exudative vitreoretinopathy 5<\/td>\n<\/tr>\n |
| 300096<\/td> | TSPAN7<\/td> | Intellectual developmental disorder, X-linked 58, X-linked recessive<\/td>\n<\/tr>\n |
| 612920<\/td> | TSPEAR<\/td> | Tooth agenesis, selective, 10; Deafness 98; Ectodermal dysplasia 14, hair\/tooth type with or without hypohidrosis<\/td>\n<\/tr>\n |
| 610764<\/td> | TSPOAP1<\/td> | Dystonia 22, juvenile-onset; Dystonia 22, adult-onset<\/td>\n<\/tr>\n |
| 604714<\/td> | TSPYL1<\/td> | Sudden infant death with dysgenesis of the testes syndrome<\/td>\n<\/tr>\n |
| 300945<\/td> | TSR2<\/td> | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive<\/td>\n<\/tr>\n |
| 613636<\/td> | TST1<\/td> | Tuberculin skin test reactivity, absence of<\/td>\n<\/tr>\n |
| 613637<\/td> | TST2<\/td> | Tuberculin skin test reactivity QTL<\/td>\n<\/tr>\n |
| 611695<\/td> | TTBK2<\/td> | Spinocerebellar ataxia 11<\/td>\n<\/tr>\n |
| 610732<\/td> | TTC12<\/td> | Ciliary dyskinesia, primary, 45<\/td>\n<\/tr>\n |
| 613814<\/td> | TTC19<\/td> | Mitochondrial complex III deficiency, nuclear type 2<\/td>\n<\/tr>\n |
| 611430<\/td> | TTC21A<\/td> | Spermatogenic failure 37<\/td>\n<\/tr>\n |
| 612014<\/td> | TTC21B<\/td> | Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12<\/td>\n<\/tr>\n |
| 618735<\/td> | TTC29<\/td> | Spermatogenic failure 42<\/td>\n<\/tr>\n |
| 619014<\/td> | TTC5<\/td> | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism<\/td>\n<\/tr>\n |
| 609332<\/td> | TTC7A<\/td> | Gastrointestinal defects and immunodeficiency syndrome<\/td>\n<\/tr>\n |
| 608132<\/td> | TTC8<\/td> | Bardet-Biedl syndrome 8; Retinitis pigmentosa 51<\/td>\n<\/tr>\n |
| 614425<\/td> | TTI1<\/td> | Neurodevelopmental disorder with microcephaly and movement abnormalities<\/td>\n<\/tr>\n |
| 614426<\/td> | TTI2<\/td> | Intellectual developmental disorder 39<\/td>\n<\/tr>\n |
| 612268<\/td> | TTLL5<\/td> | Cone-rod dystrophy 19<\/td>\n<\/tr>\n |
| 188840<\/td> | TTN<\/td> | Muscular dystrophy, limb-girdle 10; Cardiomyopathy, familial hypertrophic, 9; Congenital myopathy 5 with cardiomyopathy; Tibial muscular dystrophy, tardive; Cardiomyopathy, dilated, 1G; Myopathy, myofibrillar, 9, with early respiratory failure<\/td>\n<\/tr>\n |
| 600415<\/td> | TTPA<\/td> | Ataxia with isolated vitamin E deficiency<\/td>\n<\/tr>\n |
| 614834<\/td> | TTPP3<\/td> | Thyrotoxic periodic paralysis, susceptibility to, 3<\/td>\n<\/tr>\n |
| 176300<\/td> | TTR<\/td> | Amyloidosis, hereditary, transthyretin-related; Carpal tunnel syndrome, familial; Dystransthyretinemic hyperthyroxinemia<\/td>\n<\/tr>\n |
| 601197<\/td> | TUB<\/td> | Retinal dystrophy and obesity<\/td>\n<\/tr>\n |
| 602529<\/td> | TUBA1A<\/td> | Lissencephaly 3<\/td>\n<\/tr>\n |
| 617878<\/td> | TUBA3D<\/td> | Keratoconus 9<\/td>\n<\/tr>\n |
| 191110<\/td> | TUBA4A<\/td> | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia<\/td>\n<\/tr>\n |
| 605742<\/td> | TUBA8<\/td> | Macrothrombocytopenia, isolated, 2<\/td>\n<\/tr>\n |
| 191130<\/td> | TUBB<\/td> | Symmetric circumferential skin creases, congenital, 1; Cortical dysplasia, complex, with other brain malformations 6<\/td>\n<\/tr>\n |
| 612901<\/td> | TUBB1<\/td> | Macrothrombocytopenia, isolated, 1<\/td>\n<\/tr>\n |
| 615101<\/td> | TUBB2A<\/td> | Cortical dysplasia, complex, with other brain malformations 5<\/td>\n<\/tr>\n |
| 612850<\/td> | TUBB2B<\/td> | Cortical dysplasia, complex, with other brain malformations 7<\/td>\n<\/tr>\n |
| 602661<\/td> | TUBB3<\/td> | Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations 1<\/td>\n<\/tr>\n |
| 602662<\/td> | TUBB4A<\/td> | Dystonia 4, torsion; Leukodystrophy, hypomyelinating, 6<\/td>\n<\/tr>\n |
| 602660<\/td> | TUBB4B<\/td> | Leber congenital amaurosis with early-onset deafness<\/td>\n<\/tr>\n |
| 615103<\/td> | TUBB6<\/td> | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction<\/td>\n<\/tr>\n |
| 616768<\/td> | TUBB8<\/td> | Oocyte\/zygote\/embryo maturation arrest 2<\/td>\n<\/tr>\n |
| 191135<\/td> | TUBG1<\/td> | Cortical dysplasia, complex, with other brain malformations 4<\/td>\n<\/tr>\n |
| 617817<\/td> | TUBGCP2<\/td> | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures<\/td>\n<\/tr>\n |
| 609610<\/td> | TUBGCP4<\/td> | Microcephaly and chorioretinopathy, 3<\/td>\n<\/tr>\n |
| 610053<\/td> | TUBGCP6<\/td> | Microcephaly and chorioretinopathy, 1<\/td>\n<\/tr>\n |
| 602389<\/td> | TUFM<\/td> | Combined oxidative phosphorylation deficiency 4<\/td>\n<\/tr>\n |
| 600087<\/td> | TUFT1<\/td> | Woolly hair-skin fragility syndrome<\/td>\n<\/tr>\n |
| 609428<\/td> | TUKLS<\/td> | Tukel syndrome<\/td>\n<\/tr>\n |
| 602280<\/td> | TULP1<\/td> | Leber congenital amaurosis 15; Retinitis pigmentosa 14<\/td>\n<\/tr>\n |
| 604730<\/td> | TULP3<\/td> | Hepatorenocardiac degenerative fibrosis<\/td>\n<\/tr>\n |
| 601385<\/td> | TUSC3<\/td> | Intellectual developmental disorder 7<\/td>\n<\/tr>\n |
| 601622<\/td> | TWIST1<\/td> | Craniosynostosis 1; Robinow-Sorauf syndrome; Sweeney-Cox syndrome; Saethre-Chotzen syndrome with or without eyelid anomalies<\/td>\n<\/tr>\n |
| 607556<\/td> | TWIST2<\/td> | Ablepharon-macrostomia syndrome; Barber-Say syndrome; Focal facial dermal dysplasia 3, Setleis type<\/td>\n<\/tr>\n |
| 606075<\/td> | TWNK<\/td> | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3; Perrault syndrome 5<\/td>\n<\/tr>\n |
| 609063<\/td> | TXN2<\/td> | Combined oxidative phosphorylation deficiency 29<\/td>\n<\/tr>\n |
| 617778<\/td> | TXNDC15<\/td> | Meckel syndrome 14<\/td>\n<\/tr>\n |
| 611595<\/td> | TXNL4A<\/td> | Burn-McKeown syndrome<\/td>\n<\/tr>\n |
| 606448<\/td> | TXNRD2<\/td> | Glucocorticoid deficiency 5<\/td>\n<\/tr>\n |
| 176941<\/td> | TYK2<\/td> | Immunodeficiency 35<\/td>\n<\/tr>\n |
| 131222<\/td> | TYMP<\/td> | Mitochondrial DNA depletion syndrome 1 (MNGIE type)<\/td>\n<\/tr>\n |
| 188350<\/td> | TYMS<\/td> | Dyskeratosis congenita, digenic, Digenic dominant<\/td>\n<\/tr>\n |
| 606933<\/td> | TYR<\/td> | Skin\/hair\/eye pigmentation 3, light\/dark\/freckling skin; Skin\/hair\/eye pigmentation 3, blue\/green eyes; Melanoma, cutaneous malignant, susceptibility to, 8; Albinism, oculocutaneous, type IB; Albinism, oculocutaneous, type IA<\/td>\n<\/tr>\n |
| 604142<\/td> | TYROBP<\/td> | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1<\/td>\n<\/tr>\n |
| 115501<\/td> | TYRP1<\/td> | Skin\/hair\/eye pigmentation, variation in, 11 (Melanesian blond hair); Albinism, oculocutaneous, type III<\/td>\n<\/tr>\n |
| 191318<\/td> | U2AF2<\/td> | Developmental delay, dysmorphic facies, and brain anomalies<\/td>\n<\/tr>\n |
| 614746<\/td> | UAQTL5<\/td> | Uric acid concentration, serum, QTL5<\/td>\n<\/tr>\n |
| 614747<\/td> | UAQTL6<\/td> | Uric acid concentration, serum, QTL6<\/td>\n<\/tr>\n |
| 314370<\/td> | UBA1<\/td> | Spinal muscular atrophy, X-linked 2, infantile, X-linked recessive; VEXAS syndrome, somatic<\/td>\n<\/tr>\n |
| 613295<\/td> | UBA2<\/td> | ACCES syndrome<\/td>\n<\/tr>\n |
| 610552<\/td> | UBA5<\/td> | Spinocerebellar ataxia 24; Developmental and epileptic encephalopathy 44<\/td>\n<\/tr>\n |
| 609787<\/td> | UBAP1<\/td> | Spastic paraplegia 80<\/td>\n<\/tr>\n |
| 616472<\/td> | UBAP2L<\/td> | Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies<\/td>\n<\/tr>\n |
| 312180<\/td> | UBE2A<\/td> | Intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive<\/td>\n<\/tr>\n |
| 610538<\/td> | UBE2T<\/td> | Fanconi anemia, complementation group T<\/td>\n<\/tr>\n |
| 601623<\/td> | UBE3A<\/td> | Angelman syndrome<\/td>\n<\/tr>\n |
| 608047<\/td> | UBE3B<\/td> | Kaufman oculocerebrofacial syndrome<\/td>\n<\/tr>\n |
| 614454<\/td> | UBE3C<\/td> | Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities<\/td>\n<\/tr>\n |
| 603753<\/td> | UBE4A<\/td> | Neurodevelopmental disorder with hypotonia and gross motor and speech delay<\/td>\n<\/tr>\n |
| 611632<\/td> | UBIAD1<\/td> | Corneal dystrophy, Schnyder type<\/td>\n<\/tr>\n |
| 300264<\/td> | UBQLN2<\/td> | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant<\/td>\n<\/tr>\n |
| 605981<\/td> | UBR1<\/td> | Johanson-Blizzard syndrome<\/td>\n<\/tr>\n |
| 613816<\/td> | UBR7<\/td> | Li-Campeau syndrome<\/td>\n<\/tr>\n |
| 600673<\/td> | UBTF<\/td> | Neurodegeneration, childhood-onset, with brain atrophy<\/td>\n<\/tr>\n |
| 191342<\/td> | UCHL1<\/td> | Parkinson disease 5, susceptibility to; Spastic paraplegia 79A; Spastic paraplegia 79B<\/td>\n<\/tr>\n |
| 601693<\/td> | UCP2<\/td> | Obesity, susceptibility to, BMIQ4<\/td>\n<\/tr>\n |
| 602044<\/td> | UCP3<\/td> | Obesity, severe, and type II diabetes, Multifactorial<\/td>\n<\/tr>\n |
| 610554<\/td> | UFC1<\/td> | Neurodevelopmental disorder with spasticity and poor growth<\/td>\n<\/tr>\n |
| 610553<\/td> | UFM1<\/td> | Leukodystrophy, hypomyelinating, 14<\/td>\n<\/tr>\n |
| 611482<\/td> | UFSP2<\/td> | Hip dysplasia, Beukes type; Spondyloepimetaphyseal dysplasia, Di Rocco type; Developmental and epileptic encephalopathy 106<\/td>\n<\/tr>\n |
| 603370<\/td> | UGDH<\/td> | Developmental and epileptic encephalopathy 84<\/td>\n<\/tr>\n |
| 191760<\/td> | UGP2<\/td> | Developmental and epileptic encephalopathy 83<\/td>\n<\/tr>\n |
| 191740<\/td> | UGT1A1<\/td> | Crigler-Najjar syndrome, type I; Bilirubin, serum level of, QTL1; Hyperbilirubinemia, familial transient neonatal; Crigler-Najjar syndrome, type II; Gilbert syndrome<\/td>\n<\/tr>\n |
| 601903<\/td> | UGT2B17<\/td> | Bone mineral density QTL 12, osteoporosis<\/td>\n<\/tr>\n |
| 191845<\/td> | UMOD<\/td> | Tubulointerstitial kidney disease, 1<\/td>\n<\/tr>\n |
| 613891<\/td> | UMPS<\/td> | Orotic aciduria<\/td>\n<\/tr>\n |
| 604011<\/td> | UNC119<\/td> | Cone-rod dystrophy 24; Immunodeficiency 13<\/td>\n<\/tr>\n |
| 608897<\/td> | UNC13D<\/td> | Hemophagocytic lymphohistiocytosis, familial, 3<\/td>\n<\/tr>\n |
| 611219<\/td> | UNC45A<\/td> | Osteootohepatoenteric syndrome<\/td>\n<\/tr>\n |
| 611220<\/td> | UNC45B<\/td> | Cataract 43; Myofibrillar myopathy 11<\/td>\n<\/tr>\n |
| 612636<\/td> | UNC80<\/td> | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2<\/td>\n<\/tr>\n |
| 608204<\/td> | UNC93B1<\/td> | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1<\/td>\n<\/tr>\n |
| 191525<\/td> | UNG<\/td> | Immunodeficiency with hyper IgM, type 5<\/td>\n<\/tr>\n |
| 191540<\/td> | UOX<\/td> | Urate oxidase deficiency<\/td>\n<\/tr>\n |
| 606673<\/td> | UPB1<\/td> | Beta-ureidopropionase deficiency<\/td>\n<\/tr>\n |
| 300298<\/td> | UPF3B<\/td> | Intellectual developmental disorder, X-linked syndromic 14, X-linked recessive<\/td>\n<\/tr>\n |
| 614461<\/td> | UQCC2<\/td> | Mitochondrial complex III deficiency, nuclear type 7<\/td>\n<\/tr>\n |
| 616097<\/td> | UQCC3<\/td> | Mitochondrial complex III deficiency, nuclear type 9<\/td>\n<\/tr>\n |
| 191330<\/td> | UQCRB<\/td> | Mitochondrial complex III deficiency, nuclear type 3<\/td>\n<\/tr>\n |
| 191328<\/td> | UQCRC1<\/td> | Parkinsonism with polyneuropathy<\/td>\n<\/tr>\n |
| 191329<\/td> | UQCRC2<\/td> | Mitochondrial complex III deficiency, nuclear type 5<\/td>\n<\/tr>\n |
| 191327<\/td> | UQCRFS1<\/td> | Mitochondrial complex III deficiency, nuclear type 10<\/td>\n<\/tr>\n |
| 613844<\/td> | UQCRH<\/td> | Mitochondrial complex III deficiency, nuclear type 11<\/td>\n<\/tr>\n |
| 612080<\/td> | UQCRQ<\/td> | Mitochondrial complex III deficiency, nuclear type 4<\/td>\n<\/tr>\n |
| 613012<\/td> | UROC1<\/td> | Urocanase deficiency<\/td>\n<\/tr>\n |
| 613521<\/td> | UROD<\/td> | Porphyria, hepatoerythropoietic; Porphyria cutanea tarda<\/td>\n<\/tr>\n |
| 606938<\/td> | UROS<\/td> | Porphyria, congenital erythropoietic<\/td>\n<\/tr>\n |
| 613276<\/td> | USB1<\/td> | Poikiloderma with neutropenia<\/td>\n<\/tr>\n |
| 191523<\/td> | USF1<\/td> | Hyperlipidemia, familial combined, susceptibility to<\/td>\n<\/tr>\n |
| 605242<\/td> | USH1C<\/td> | Usher syndrome, type 1C; Deafness 18A<\/td>\n<\/tr>\n |
| 602097<\/td> | USH1E<\/td> | Usher syndrome, type 1E<\/td>\n<\/tr>\n |
| 607696<\/td> | USH1G<\/td> | Usher syndrome, type 1G<\/td>\n<\/tr>\n |
| 612632<\/td> | USH1H<\/td> | Usher syndrome, type 1H<\/td>\n<\/tr>\n |
| 614990<\/td> | USH1K<\/td> | Usher syndrome, type IK<\/td>\n<\/tr>\n |
| 608400<\/td> | USH2A<\/td> | Usher syndrome, type 2A; Retinitis pigmentosa 39<\/td>\n<\/tr>\n |
| 607057<\/td> | USP18<\/td> | Pseudo-TORCH syndrome 2<\/td>\n<\/tr>\n |
| 300309<\/td> | USP26<\/td> | Spermatogenic failure, X-linked, 6, X-linked<\/td>\n<\/tr>\n |
| 300975<\/td> | USP27X<\/td> | Intellectual developmental disorder, X-linked 105, X-linked recessive<\/td>\n<\/tr>\n |
| 618439<\/td> | USP45<\/td> | Leber congenital amaurosis 19<\/td>\n<\/tr>\n |
| 617445<\/td> | USP48<\/td> | Deafness 85<\/td>\n<\/tr>\n |
| 617431<\/td> | USP53<\/td> | Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss<\/td>\n<\/tr>\n |
| 602519<\/td> | USP7<\/td> | Hao-Fountain syndrome<\/td>\n<\/tr>\n |
| 603158<\/td> | USP8<\/td> | Pituitary adenoma 4, ACTH-secreting, somatic<\/td>\n<\/tr>\n |
| 300072<\/td> | USP9X<\/td> | Intellectual developmental disorder, X-linked 99, X-linked recessive; Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant<\/td>\n<\/tr>\n |
| 400005<\/td> | USP9Y<\/td> | Spermatogenic failure, Y-linked, 2, Y-linked<\/td>\n<\/tr>\n |
| 614632<\/td> | UVSSA<\/td> | UV-sensitive syndrome 3<\/td>\n<\/tr>\n |
| 604632<\/td> | VAC14<\/td> | Striatonigral degeneration, childhood-onset<\/td>\n<\/tr>\n |
| 193200<\/td> | VAMAS6<\/td> | Vitiligo-associated multiple autoimmune disease susceptibility 6<\/td>\n<\/tr>\n |
| 185880<\/td> | VAMP1<\/td> | Myasthenic syndrome, congenital, 25; Spastic ataxia 1<\/td>\n<\/tr>\n |
| 185881<\/td> | VAMP2<\/td> | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements<\/td>\n<\/tr>\n |
| 610132<\/td> | VANGL1<\/td> | Neural tube defects, susceptibility to; Caudal regression syndrome<\/td>\n<\/tr>\n |
| 600533<\/td> | VANGL2<\/td> | Neural tube defects<\/td>\n<\/tr>\n |
| 605704<\/td> | VAPB<\/td> | Spinal muscular atrophy, late-onset, Finkel type; Amyotrophic lateral sclerosis 8<\/td>\n<\/tr>\n |
| 192150<\/td> | VARS1<\/td> | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy<\/td>\n<\/tr>\n |
| 612802<\/td> | VARS2<\/td> | Combined oxidative phosphorylation deficiency 20<\/td>\n<\/tr>\n |
| 604294<\/td> | VAX1<\/td> | Microphthalmia, syndromic 11<\/td>\n<\/tr>\n |
| 118661<\/td> | VCAN<\/td> | Wagner syndrome 1<\/td>\n<\/tr>\n |
| 193065<\/td> | VCL<\/td> | Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15<\/td>\n<\/tr>\n |
| 601023<\/td> | VCP<\/td> | Frontotemporal dementia and\/or amyotrophic lateral sclerosis 6; Charcot-Marie-Tooth disease, type 2Y; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1<\/td>\n<\/tr>\n |
| 601769<\/td> | VDR<\/td> | Rickets, vitamin D-resistant, type IIA<\/td>\n<\/tr>\n |
| 192240<\/td> | VEGFA<\/td> | Microvascular complications of diabetes 1<\/td>\n<\/tr>\n |
| 601528<\/td> | VEGFC<\/td> | Lymphatic malformation 4<\/td>\n<\/tr>\n |
| 606747<\/td> | VEZF1<\/td> | Cardiomyopathy, dilated, 1OO<\/td>\n<\/tr>\n |
| 608537<\/td> | VHL<\/td> | Hemangioblastoma, cerebellar, somatic; Erythrocytosis, familial, 2; von Hippel-Lindau syndrome; Renal cell carcinoma, somatic; Pheochromocytoma<\/td>\n<\/tr>\n |
| 193060<\/td> | VIM<\/td> | Cataract 30, pulverulent<\/td>\n<\/tr>\n |
| 613401<\/td> | VIPAS39<\/td> | Arthrogryposis, renal dysfunction, and cholestasis 2<\/td>\n<\/tr>\n |
| 608547<\/td> | VKORC1<\/td> | Vitamin K-dependent clotting factors, combined deficiency of, 2; Warfarin resistance<\/td>\n<\/tr>\n |
| 192977<\/td> | VLDLR<\/td> | Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1<\/td>\n<\/tr>\n |
| 300913<\/td> | VMA21<\/td> | Myopathy, X-linked, with excessive autophagy, X-linked recessive<\/td>\n<\/tr>\n |
| 608549<\/td> | VPS11<\/td> | Dystonia 32; Leukodystrophy, hypomyelinating, 12<\/td>\n<\/tr>\n |
| 605978<\/td> | VPS13A<\/td> | Choreoacanthocytosis<\/td>\n<\/tr>\n |
| 607817<\/td> | VPS13B<\/td> | Cohen syndrome<\/td>\n<\/tr>\n |
| 608879<\/td> | VPS13C<\/td> | Parkinson disease 23, early onset<\/td>\n<\/tr>\n |
| 608877<\/td> | VPS13D<\/td> | Spinocerebellar ataxia 4<\/td>\n<\/tr>\n |
| 608550<\/td> | VPS16<\/td> | Dystonia 30<\/td>\n<\/tr>\n |
| 610034<\/td> | VPS33A<\/td> | Mucopolysaccharidosis-plus syndrome<\/td>\n<\/tr>\n |
| 608552<\/td> | VPS33B<\/td> | Keratoderma-ichthyosis-deafness syndrome; Cholestasis, progressive familial intrahepatic, 12; Arthrogryposis, renal dysfunction, and cholestasis 1<\/td>\n<\/tr>\n |
| 601501<\/td> | VPS35<\/td> | Parkinson disease 17<\/td>\n<\/tr>\n |
| 618981<\/td> | VPS35L<\/td> | Ritscher-Schinzel syndrome 3<\/td>\n<\/tr>\n |
| 609927<\/td> | VPS37A<\/td> | Spastic paraplegia 53<\/td>\n<\/tr>\n |
| 605485<\/td> | VPS41<\/td> | Spinocerebellar ataxia 29<\/td>\n<\/tr>\n |
| 610035<\/td> | VPS45<\/td> | Neutropenia, severe congenital, 5<\/td>\n<\/tr>\n |
| 609982<\/td> | VPS4A<\/td> | CIMDAG syndrome<\/td>\n<\/tr>\n |
| 616465<\/td> | VPS50<\/td> | Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis<\/td>\n<\/tr>\n |
| 615738<\/td> | VPS51<\/td> | Pontocerebellar hypoplasia, type 13<\/td>\n<\/tr>\n |
| 615850<\/td> | VPS53<\/td> | Pontocerebellar hypoplasia, type 2E<\/td>\n<\/tr>\n |
| 602168<\/td> | VRK1<\/td> | Pontocerebellar hypoplasia type 1A; Neuronopathy, distal hereditary motor 10<\/td>\n<\/tr>\n |
| 313000<\/td> | VSPA<\/td> | Visuospatial\/perceptual abilities, X-linked recessive; Turner syndrome-associated neurocognitive phenotype, X-linked recessive<\/td>\n<\/tr>\n |
| 605020<\/td> | VSX1<\/td> | Craniofacial anomalies and anterior segment dysgenesis syndrome; Keratoconus 1<\/td>\n<\/tr>\n |
| 142993<\/td> | VSX2<\/td> | Microphthalmia, isolated 2; Microphthalmia\/coloboma 3<\/td>\n<\/tr>\n |
| 193000<\/td> | VUR<\/td> | Vesicoureteral reflux 1<\/td>\n<\/tr>\n |
| 614317<\/td> | VUR4<\/td> | Vesicoureteral reflux 4<\/td>\n<\/tr>\n |
| 614318<\/td> | VUR5<\/td> | Vesicoureteral reflux 5<\/td>\n<\/tr>\n |
| 614319<\/td> | VUR6<\/td> | Vesicoureteral reflux 6<\/td>\n<\/tr>\n |
| 615390<\/td> | VUR7<\/td> | Vesicoureteral reflux 7<\/td>\n<\/tr>\n |
| 609289<\/td> | VVS<\/td> | Syncope, familial vasovagal<\/td>\n<\/tr>\n |
| 611901<\/td> | VWA1<\/td> | Neuronopathy, distal hereditary motor 7<\/td>\n<\/tr>\n |
| 614884<\/td> | VWA3B<\/td> | Spinocerebellar ataxia 22<\/td>\n<\/tr>\n |
| 617509<\/td> | VWA8<\/td> | Retinitis pigmentosa 97<\/td>\n<\/tr>\n |
| 613160<\/td> | VWF<\/td> | von Willebrand disease, type 1; von Willebrand disease, types 2A, 2B, 2M, and 2N; von Willebrand disease, type 3<\/td>\n<\/tr>\n |
| 615049<\/td> | WAC<\/td> | Desanto-Shinawi syndrome<\/td>\n<\/tr>\n |
| 191050<\/td> | WARS1<\/td> | Neuronopathy, distal hereditary motor 9; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities<\/td>\n<\/tr>\n |
| 604733<\/td> | WARS2<\/td> | Parkinsonism-dystonia 3, childhood-onset; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures<\/td>\n<\/tr>\n |
| 300392<\/td> | WAS<\/td> | Wiskott-Aldrich syndrome, X-linked recessive; Neutropenia, severe congenital, X-linked, X-linked recessive; Thrombocytopenia, X-linked, intermittent, X-linked recessive; Thrombocytopenia, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 605035<\/td> | WASF1<\/td> | Neurodevelopmental disorder with absent language and variable seizures<\/td>\n<\/tr>\n |
| 615748<\/td> | WASHC4<\/td> | Intellectual developmental disorder 43<\/td>\n<\/tr>\n |
| 610657<\/td> | WASHC5<\/td> | Ritscher-Schinzel syndrome 1; Spastic paraplegia 8<\/td>\n<\/tr>\n |
| 618083<\/td> | WBP11<\/td> | Vertebral, cardiac, tracheoesophageal, renal, and limb defects<\/td>\n<\/tr>\n |
| 606962<\/td> | WBP2<\/td> | Deafness 107<\/td>\n<\/tr>\n |
| 604981<\/td> | WBP4<\/td> | Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities<\/td>\n<\/tr>\n |
| 617485<\/td> | WDFY3<\/td> | Microcephaly 18, primary<\/td>\n<\/tr>\n |
| 613580<\/td> | WDPCP<\/td> | Bardet-Biedl syndrome 15; Congenital heart defects, hamartomas of tongue, and polysyndactyly<\/td>\n<\/tr>\n |
| 604734<\/td> | WDR1<\/td> | Periodic fever, immunodeficiency, and thrombocytopenia syndrome<\/td>\n<\/tr>\n |
| 606417<\/td> | WDR11<\/td> | Intellectual developmental disorder 78; Hypogonadotropic hypogonadism 14 with or without anosmia<\/td>\n<\/tr>\n |
| 608151<\/td> | WDR19<\/td> | Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Short-rib thoracic dysplasia 5 with or without polydactyly; Spermatogenic failure 72<\/td>\n<\/tr>\n |
| 617424<\/td> | WDR26<\/td> | Skraban-Deardorff syndrome<\/td>\n<\/tr>\n |
| 613602<\/td> | WDR35<\/td> | Short-rib thoracic dysplasia 7 with or without polydactyly; Cranioectodermal dysplasia 2<\/td>\n<\/tr>\n |
| 609669<\/td> | WDR36<\/td> | Glaucoma 1, open angle, G<\/td>\n<\/tr>\n |
| 618586<\/td> | WDR37<\/td> | Neurooculocardiogenitourinary syndrome<\/td>\n<\/tr>\n |
| 605924<\/td> | WDR4<\/td> | Galloway-Mowat syndrome 6; Microcephaly, growth deficiency, seizures, and brain malformations<\/td>\n<\/tr>\n |
| 300526<\/td> | WDR45<\/td> | Neurodegeneration with brain iron accumulation 5, X-linked dominant<\/td>\n<\/tr>\n |
| 609226<\/td> | WDR45B<\/td> | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures<\/td>\n<\/tr>\n |
| 613583<\/td> | WDR62<\/td> | Microcephaly 2, primary, with or without cortical malformations<\/td>\n<\/tr>\n |
| 613214<\/td> | WDR72<\/td> | Amelogenesis imperfecta, type IIA3<\/td>\n<\/tr>\n |
| 616144<\/td> | WDR73<\/td> | Galloway-Mowat syndrome 1<\/td>\n<\/tr>\n |
| 614218<\/td> | WDR81<\/td> | Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies<\/td>\n<\/tr>\n |
| 614084<\/td> | WEE2<\/td> | Oocyte\/zygote\/embryo maturation arrest 5<\/td>\n<\/tr>\n |
| 606201<\/td> | WFS1<\/td> | Deafness 6\/14\/38; Cataract 41; Wolfram-like syndrome; Diabetes mellitus, noninsulin-dependent, association with; Wolfram syndrome 1<\/td>\n<\/tr>\n |
| 608710<\/td> | WG<\/td> | Granulomatosis with polyangiitis<\/td>\n<\/tr>\n |
| 607928<\/td> | WHRN<\/td> | Deafness 31; Usher syndrome, type 2D<\/td>\n<\/tr>\n |
| 602357<\/td> | WIPF1<\/td> | Wiskott-Aldrich syndrome 2<\/td>\n<\/tr>\n |
| 609225<\/td> | WIPI2<\/td> | Intellectual developmental disorder with short stature and variable skeletal anomalies<\/td>\n<\/tr>\n |
| 611514<\/td> | WLS<\/td> | Zaki syndrome<\/td>\n<\/tr>\n |
| 610430<\/td> | WM2<\/td> | Macroglobulinemia, Waldenstrom, susceptibility to, 2<\/td>\n<\/tr>\n |
| 605232<\/td> | WNK1<\/td> | Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC<\/td>\n<\/tr>\n |
| 300358<\/td> | WNK3<\/td> | Prieto syndrome, X-linked recessive<\/td>\n<\/tr>\n |
| 601844<\/td> | WNK4<\/td> | Pseudohypoaldosteronism, type IIB<\/td>\n<\/tr>\n |
| 164820<\/td> | WNT1<\/td> | Osteoporosis, early-onset, susceptibility to; Osteogenesis imperfecta, type XV<\/td>\n<\/tr>\n |
| 606268<\/td> | WNT10A<\/td> | Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4; Ectodermal dysplasia 16 (odontoonychodermal dysplasia)<\/td>\n<\/tr>\n |
| 601906<\/td> | WNT10B<\/td> | Tooth agenesis, selective, 8; Split-hand\/foot malformation 6<\/td>\n<\/tr>\n |
| 601968<\/td> | WNT2B<\/td> | Diarrhea 9<\/td>\n<\/tr>\n |
| 165330<\/td> | WNT3<\/td> | Tetra-amelia syndrome 1<\/td>\n<\/tr>\n |
| 603490<\/td> | WNT4<\/td> | SERKAL syndrome; Mullerian aplasia and hyperandrogenism<\/td>\n<\/tr>\n |
| 164975<\/td> | WNT5A<\/td> | Robinow syndrome 1<\/td>\n<\/tr>\n |
| 601570<\/td> | WNT7A<\/td> | Fuhrmann syndrome; Ulna and fibula, absence of, with severe limb deficiency<\/td>\n<\/tr>\n |
| 612661<\/td> | WRAP53<\/td> | Dyskeratosis congenita 3<\/td>\n<\/tr>\n |
| 604611<\/td> | WRN<\/td> | Werner syndrome<\/td>\n<\/tr>\n |
| 600193<\/td> | WS2B<\/td> | Waardenburg syndrome, type 2B<\/td>\n<\/tr>\n |
| 606662<\/td> | WS2C<\/td> | Waardenburg syndrome, type 2C<\/td>\n<\/tr>\n |
| 607102<\/td> | WT1<\/td> | Mesothelioma, somatic; Meacham syndrome; Frasier syndrome, Somatic mutation; Nephrotic syndrome, type 4; Denys-Drash syndrome, Somatic mutation; Wilms tumor, type 1, Somatic mutation<\/td>\n<\/tr>\n |
| 194090<\/td> | WT3<\/td> | Wilms tumor, type 3<\/td>\n<\/tr>\n |
| 601363<\/td> | WT4<\/td> | Wilms tumor, type 4<\/td>\n<\/tr>\n |
| 610533<\/td> | WWC1<\/td> | Memory, enhanced, QTL<\/td>\n<\/tr>\n |
| 605131<\/td> | WWOX<\/td> | Esophageal squamous cell carcinoma, somatic; Developmental and epileptic encephalopathy 28; Spinocerebellar ataxia 12<\/td>\n<\/tr>\n |
| 194355<\/td> | XBP1<\/td> | Major affective disorder-7, susceptibility to<\/td>\n<\/tr>\n |
| 607633<\/td> | XDH<\/td> | Xanthinuria, type I<\/td>\n<\/tr>\n |
| 300779<\/td> | XECD<\/td> | Corneal dystrophy, endothelial, X-linked, X-linked dominant<\/td>\n<\/tr>\n |
| 300079<\/td> | XIAP<\/td> | Lymphoproliferative syndrome, X-linked, 2, X-linked recessive<\/td>\n<\/tr>\n |
| 314670<\/td> | XIST<\/td> | X-inactivation, familial skewed, X-linked<\/td>\n<\/tr>\n |
| 314850<\/td> | XK<\/td> | McLeod syndrome, X-linked<\/td>\n<\/tr>\n |
| 611153<\/td> | XPA<\/td> | Xeroderma pigmentosum, group A<\/td>\n<\/tr>\n |
| 613208<\/td> | XPC<\/td> | Xeroderma pigmentosum, group C<\/td>\n<\/tr>\n |
| 300145<\/td> | XPNPEP2<\/td> | Angioedema induced by ACE inhibitors, susceptibility to<\/td>\n<\/tr>\n |
| 613553<\/td> | XPNPEP3<\/td> | Nephronophthisis-like nephropathy 1<\/td>\n<\/tr>\n |
| 605237<\/td> | XPR1<\/td> | Basal ganglia calcification, idiopathic, 6<\/td>\n<\/tr>\n |
| 194360<\/td> | XRCC1<\/td> | Spinocerebellar ataxia 26<\/td>\n<\/tr>\n |
| 600375<\/td> | XRCC2<\/td> | Spermatogenic failure 50; Premature ovarian failure 17; Fanconi anemia, complementation group U<\/td>\n<\/tr>\n |
| 600675<\/td> | XRCC3<\/td> | Breast cancer, susceptibility to, Somatic mutation; Melanoma, cutaneous malignant, 6<\/td>\n<\/tr>\n |
| 194363<\/td> | XRCC4<\/td> | Short stature, microcephaly, and endocrine dysfunction<\/td>\n<\/tr>\n |
| 608124<\/td> | XYLT1<\/td> | Desbuquois dysplasia 2; Pseudoxanthoma elasticum, modifier of severity of<\/td>\n<\/tr>\n |
| 608125<\/td> | XYLT2<\/td> | Pseudoxanthoma elasticum, modifier of severity of; Spondyloocular syndrome<\/td>\n<\/tr>\n |
| 606608<\/td> | YAP1<\/td> | Coloboma, ocular, with or without hearing impairment, cleft lip\/palate, and\/or impaired intellectual development<\/td>\n<\/tr>\n |
| 603623<\/td> | YARS1<\/td> | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2; Charcot-Marie-Tooth disease, dominant intermediate C<\/td>\n<\/tr>\n |
| 610957<\/td> | YARS2<\/td> | Myopathy, lactic acidosis, and sideroblastic anemia 2<\/td>\n<\/tr>\n |
| 613373<\/td> | YEATS2<\/td> | Epilepsy, myoclonic, familial adult, 4<\/td>\n<\/tr>\n |
| 619109<\/td> | YIF1B<\/td> | Kaya-Barakat-Masson syndrome<\/td>\n<\/tr>\n |
| 611483<\/td> | YIPF5<\/td> | Microcephaly, epilepsy, and diabetes syndrome 2<\/td>\n<\/tr>\n |
| 607472<\/td> | YME1L1<\/td> | Optic atrophy 11<\/td>\n<\/tr>\n |
| 612276<\/td> | YRDC<\/td> | Galloway-Mowat syndrome 10<\/td>\n<\/tr>\n |
| 605356<\/td> | YWHAG<\/td> | Developmental and epileptic encephalopathy 56<\/td>\n<\/tr>\n |
| 600013<\/td> | YY1<\/td> | Gabriele-de Vries syndrome<\/td>\n<\/tr>\n |
| 607860<\/td> | YY1AP1<\/td> | Grange syndrome<\/td>\n<\/tr>\n |
| 176947<\/td> | ZAP70<\/td> | Immunodeficiency 48; Autoimmune disease, multisystem, infantile-onset, 2<\/td>\n<\/tr>\n |
| 618181<\/td> | ZBTB11<\/td> | Intellectual developmental disorder 69<\/td>\n<\/tr>\n |
| 176797<\/td> | ZBTB16<\/td> | Leukemia, acute promyelocytic, PL2F\/RARA type<\/td>\n<\/tr>\n |
| 608433<\/td> | ZBTB18<\/td> | Intellectual developmental disorder 22<\/td>\n<\/tr>\n |
| 606025<\/td> | ZBTB20<\/td> | Primrose syndrome<\/td>\n<\/tr>\n |
| 614064<\/td> | ZBTB24<\/td> | Immunodeficiency-centromeric instability-facial anomalies syndrome 2<\/td>\n<\/tr>\n |
| 613915<\/td> | ZBTB42<\/td> | Lethal congenital contracture syndrome 6<\/td>\n<\/tr>\n |
| 605878<\/td> | ZBTB7A<\/td> | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin<\/td>\n<\/tr>\n |
| 613279<\/td> | ZC3H14<\/td> | Intellectual developmental disorder 56<\/td>\n<\/tr>\n |
| 300897<\/td> | ZC4H2<\/td> | Wieacker-Wolff syndrome, X-linked recessive; Wieacker-Wolff syndrome, female-restricted, X-linked dominant<\/td>\n<\/tr>\n |
| 616381<\/td> | ZCCHC8<\/td> | Pulmonary fibrosis and\/or bone marrow failure syndrome, telomere-related, 5<\/td>\n<\/tr>\n |
| 609815<\/td> | ZD1<\/td> | Zygodactyly 1<\/td>\n<\/tr>\n |
| 300646<\/td> | ZDHHC9<\/td> | Intellectual developmental disorder, X-linked syndromic, Raymond type, X-linked<\/td>\n<\/tr>\n |
| 189909<\/td> | ZEB1<\/td> | Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, Fuchs endothelial, 6<\/td>\n<\/tr>\n |
| 605802<\/td> | ZEB2<\/td> | Mowat-Wilson syndrome<\/td>\n<\/tr>\n |
| 610931<\/td> | ZFAT<\/td> | Autoimmune thyroid disease, susceptibility to, 3<\/td>\n<\/tr>\n |
| 617828<\/td> | ZFHX2<\/td> | Marsili syndrome<\/td>\n<\/tr>\n |
| 104155<\/td> | ZFHX3<\/td> | Prostate cancer, somatic; Atrial fibrillation 8, susceptibility to; Spinocerebellar ataxia 4<\/td>\n<\/tr>\n |
| 606940<\/td> | ZFHX4<\/td> | Ptosis, congenital<\/td>\n<\/tr>\n |
| 612053<\/td> | ZFP36L2<\/td> | Oocyte\/zygote\/embryo maturation arrest 13<\/td>\n<\/tr>\n |
| 612192<\/td> | ZFP57<\/td> | Diabetes mellitus, transient neonatal 1<\/td>\n<\/tr>\n |
| 603693<\/td> | ZFPM2<\/td> | Diaphragmatic hernia 3; 46XY sex reversal 9; Tetralogy of Fallot<\/td>\n<\/tr>\n |
| 314980<\/td> | ZFX<\/td> | Intellectual developmental disorder, X-linked syndromic 37, X-linked<\/td>\n<\/tr>\n |
| 619635<\/td> | ZFYVE19<\/td> | Cholestasis, progressive familial intrahepatic, 9<\/td>\n<\/tr>\n |
| 612012<\/td> | ZFYVE26<\/td> | Spastic paraplegia 15<\/td>\n<\/tr>\n |
| 600470<\/td> | ZIC1<\/td> | Craniosynostosis 6; Structural brain anomalies with impaired intellectual development and craniosynostosis<\/td>\n<\/tr>\n |
| 603073<\/td> | ZIC2<\/td> | Holoprosencephaly 5<\/td>\n<\/tr>\n |
| 300265<\/td> | ZIC3<\/td> | Congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive; Heterotaxy, visceral, 1, X-linked, X-linked recessive; VACTERL association, X-linked, X-linked recessive<\/td>\n<\/tr>\n |
| 607159<\/td> | ZMIZ1<\/td> | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies<\/td>\n<\/tr>\n |
| 606480<\/td> | ZMPSTE24<\/td> | Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy 1<\/td>\n<\/tr>\n |
| 602221<\/td> | ZMYM2<\/td> | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities<\/td>\n<\/tr>\n |
| 300061<\/td> | ZMYM3<\/td> | Intellectual developmental disorder, X-linked 112, X-linked recessive<\/td>\n<\/tr>\n |
| 607070<\/td> | ZMYND10<\/td> | Ciliary dyskinesia, primary, 22<\/td>\n<\/tr>\n |
| 608668<\/td> | ZMYND11<\/td> | Intellectual developmental disorder 30<\/td>\n<\/tr>\n |
| 614312<\/td> | ZMYND15<\/td> | Spermatogenic failure 14<\/td>\n<\/tr>\n |
| 194648<\/td> | ZNF141<\/td> | Polydactyly, postaxial, type A6<\/td>\n<\/tr>\n |
| 604083<\/td> | ZNF142<\/td> | Neurodevelopmental disorder with impaired speech and hyperkinetic movements<\/td>\n<\/tr>\n |
| 601897<\/td> | ZNF148<\/td> | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies<\/td>\n<\/tr>\n |
| 616213<\/td> | ZNF292<\/td> | Intellectual developmental disorder 64<\/td>\n<\/tr>\n |
| 610827<\/td> | ZNF335<\/td> | Microcephaly 10, primary<\/td>\n<\/tr>\n |
| 618269<\/td> | ZNF341<\/td> | Hyper-IgE syndrome 3, with recurrent infections<\/td>\n<\/tr>\n |
| 607818<\/td> | ZNF365<\/td> | Nephrolithiasis, uric acid, susceptibility to<\/td>\n<\/tr>\n |
| 615894<\/td> | ZNF407<\/td> | SIMHA syndrome<\/td>\n<\/tr>\n |
| 616454<\/td> | ZNF408<\/td> | Retinitis pigmentosa 72; Exudative vitreoretinopathy 6<\/td>\n<\/tr>\n |
| 604557<\/td> | ZNF423<\/td> | Nephronophthisis 14; Joubert syndrome 19<\/td>\n<\/tr>\n |
| 617371<\/td> | ZNF462<\/td> | Weiss-Kruszka syndrome<\/td>\n<\/tr>\n |
| 612078<\/td> | ZNF469<\/td> | Brittle cornea syndrome 1<\/td>\n<\/tr>\n |
| 613598<\/td> | ZNF513<\/td> | Retinitis pigmentosa 58<\/td>\n<\/tr>\n |
| 614387<\/td> | ZNF526<\/td> | Dentici-Novelli neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 614159<\/td> | ZNF644<\/td> | Myopia 21<\/td>\n<\/tr>\n |
| 617103<\/td> | ZNF668<\/td> | Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies<\/td>\n<\/tr>\n |
| 610568<\/td> | ZNF687<\/td> | Paget disease of bone 6<\/td>\n<\/tr>\n |
| 609571<\/td> | ZNF699<\/td> | DEGCAGS syndrome<\/td>\n<\/tr>\n |
| 314990<\/td> | ZNF711<\/td> | Intellectual developmental disorder, X-linked 97, X-linked<\/td>\n<\/tr>\n |
| 610226<\/td> | ZNF750<\/td> | Seborrhea-like dermatitis with psoriasiform elements<\/td>\n<\/tr>\n |
| 618931<\/td> | ZNFX1<\/td> | Immunodeficiency 91 and hyperinflammation<\/td>\n<\/tr>\n |
| 604500<\/td> | ZNHIT3<\/td> | PEHO syndrome<\/td>\n<\/tr>\n |
| 195000<\/td> | ZP1<\/td> | Oocyte\/zygote\/embryo maturation arrest 1<\/td>\n<\/tr>\n |
| 182888<\/td> | ZP2<\/td> | Oocyte\/zygote\/embryo maturation arrest 6<\/td>\n<\/tr>\n |
| 182889<\/td> | ZP3<\/td> | Oocyte\/zygote\/embryo maturation arrest 3<\/td>\n<\/tr>\n |
| 608498<\/td> | ZPBP<\/td> | Spermatogenic failure 66<\/td>\n<\/tr>\n |
| 603901<\/td> | ZPR1<\/td> | Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies<\/td>\n<\/tr>\n |
| 618365<\/td> | ZSCAN10<\/td> | Otofacial neurodevelopmental syndrome<\/td>\n<\/tr>\n |
| 615951<\/td> | ZSWIM6<\/td> | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features; Acromelic frontonasal dysostosis<\/td>\n<\/tr>\n |
| 614535<\/td> | ZSWIM7<\/td> | Spermatogenic failure 71; Ovarian dysgenesis 10<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n <\/p>\n","protected":false},"excerpt":{"rendered":" Benutzen Sie bitte das Suchfeld | Please use the search field \u25bc<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-templates\/full-width.php","meta":{"footnotes":""},"class_list":["post-15","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/pages\/15","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/comments?post=15"}],"version-history":[{"count":10,"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/pages\/15\/revisions"}],"predecessor-version":[{"id":196,"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/pages\/15\/revisions\/196"}],"wp:attachment":[{"href":"https:\/\/p393251.webspaceconfig.de\/levz\/wp-json\/wp\/v2\/media?parent=15"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}} |