A2M 103950 {Alzheimer disease, susceptibility to}, 104300 (3) A4GALT 607922 [Blood group, P system], 111400 (3) AAAS 605378 Achalasia-addisonianism-alacrimia syndrome, 231550 (3) AANAT 600950 {Delayed sleep phase syndrome, susceptibility to}, 614163 (3) AARS2 612035 Combined oxidative phosphorylation deficiency 8, 614096 (3) AASS 605113 Hyperlysinemia, 238700 (3) ABAT 137150 GABA-transaminase deficiency, 613163 (3) ABCA1 600046 HDL deficiency, type 2, 604091 (3) ABCA1 600046 Tangier disease, 205400 (3) ABCA1 600046 {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3) ABCA12 607800 Ichthyosis, harlequin, 242500 (3) ABCA12 607800 Ichthyosis, lamellar 2, 601277 (3) ABCA3 601615 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) ABCA4 601691 Cone-rod dystrophy 3, 604116 (3) ABCA4 601691 Fundus flavimaculatus, 248200 (3) ABCA4 601691 Macular degeneration, age-related, 2, 153800 (3) ABCA4 601691 Retinal dystrophy, early-onset severe, 248200 (3) ABCA4 601691 Retinitis pigmentosa 19, 601718 (3) ABCA4 601691 Stargardt disease 1, 248200 (3) ABCB1 171050 Colchicine resistance (3) ABCB1 171050 {Inflammatory bowel disease 13}, 612244 (3) ABCB11 603201 Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) ABCB11 603201 Cholestasis, progressive familial intrahepatic 2, 601847 (3) ABCB4 171060 Cholestasis, familial intrahepatic, of pregnancy, 147480 (3) ABCB4 171060 Cholestasis, progressive familial intrahepatic 3, 602347 (3) ABCB4 171060 Gallbladder disease 1, 600803 (3) ABCB6 605452 Microphthalmia, isolated, with coloboma 7, 614497 (3) ABCB6 605452 [Blood group, Langereis system], 111600 (3) ABCB7 300135 Anemia, sideroblastic, with ataxia, 301310 (3) ABCC11 607040 [Axillary odor, variation in], 117800 (3) ABCC11 607040 [Colostrum secretion, variation in], 117800 (3) ABCC11 607040 [Earwax, wet/dry], 117800 (3) ABCC2 601107 Dubin-Johnson syndrome, 237500 (3) ABCC6 603234 Arterial calcification, generalized, of infancy, 2, 614473 (3) ABCC6 603234 Pseudoxanthoma elasticum, 264800 (3) ABCC6 603234 Pseudoxanthoma elasticum, forme fruste, 177850 (3) ABCC8 600509 Diabetes mellitus, noninsulin-dependent, 125853 (3) ABCC8 600509 Diabetes mellitus, permanent neonatal, 606176 (3) ABCC8 600509 Diabetes mellitus, transient neonatal 2, 610374 (3) ABCC8 600509 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) ABCC8 600509 Hypoglycemia of infancy, leucine-sensitive, 240800 (3) ABCC9 601439 Atrial fibrillation, familial, 12, 614050 (3) ABCC9 601439 Cardiomyopathy, dilated, 1O, 608569 (3) ABCD1 300371 Adrenoleukodystrophy, 300100 (3) ABCD1 300371 Adrenomyeloneuropathy, 300100 (3) ABCD3 170995 Zellweger syndrome-2 (3) ABCG2 603756 [Junior blood group system], 614490 (3) ABCG2 603756 [Uric acid concentration, serum, QTL1], 138900 (3) ABCG5 605459 Sitosterolemia, 210250 (3) ABCG8 605460 Gallbladder disease 4, 611465 (3) ABCG8 605460 Sitosterolemia, 210250 (3) ABHD12 613599 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3) ABHD5 604780 Chanarin-Dorfman syndrome, 275630 (3) ABL1 189980 Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3) ABO 110300 [Blood group, ABO system] (3) ACAD8 604773 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3) ACAD9 611103 ACAD9 deficiency, 611126 (3) ACADM 607008 Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3) ACADS 606885 Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) ACADSB 600301 2-methylbutyrylglycinuria, 610006 (3) ACADVL 609575 VLCAD deficiency, 201475 (3) ACAN 155760 Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3) ACAN 155760 Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3) ACAN 155760 Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) ACAT1 607809 Alpha-methylacetoacetic aciduria, 203750 (3) ACE 106180 Renal tubular dysgenesis, 267430 (3) ACE 106180 [Angiotensin I-converting enzyme, benign serum increase] (3) ACE 106180 {Alzheimer disease, susceptibility to}, 104300 (3) ACE 106180 {Microvascular complications of diabetes 3}, 612624 (3) ACE 106180 {Myocardial infarction, susceptibility to} (3) ACE 106180 {SARS, progression of} (3) ACE 106180 {Stroke, hemorrhagic}, 614519 (3) ACHE 100740 [Blood group, Yt system], 112100 (3) ACO2 100850 Infantile cerebellar-retinal degeneration, 614559 (3) ACOX1 609751 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) ACP5 171640 Spondyloenchondrodysplasia with immune dysregulation, 607944 (3) ACSF3 614245 Combined malonic and methylmalonic aciduria, 614265 (3) ACSL4 300157 Mental retardation, X-linked 63, 300387 (3) ACSL6 604443 Myelodysplastic syndrome (3) ACSL6 604443 Myelogenous leukemia, acute (3) ACTA1 102610 Myopathy, actin, congenital, with cores (3) ACTA1 102610 Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3) ACTA1 102610 Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) ACTA1 102610 Myopathy, nemaline, 3, 161800 (3) ACTA2 102620 Aortic aneurysm, familial thoracic 6, 611788 (3) ACTA2 102620 Moyamoya disease 5, 614042 (3) ACTA2 102620 Multisystemic smooth muscle dysfunction syndrome, 613834 (3) ACTB 102630 Dystonia, juvenile-onset, 607371 (3) ACTC1 102540 Atrial septal defect 5, 612794 (3) ACTC1 102540 Cardiomyopathy, dilated, 1R, 613424 (3) ACTC1 102540 Cardiomyopathy, familial hypertrophic, 11, 612098 (3) ACTC1 102540 Left ventricular noncompaction 4, 613424 (3) ACTG1 102560 Deafness, autosomal dominant 20/26, 604717 (3) ACTN2 102573 Cardiomyopathy, dilated, 1AA, 612158 (3) ACTN3 102574 [Alpha-actinin-3 deficiency] (3) ACTN3 102574 [Sprinting performance] (3) ACTN4 604638 Glomerulosclerosis, focal segmental, 1, 603278 (3) ACVR1 102576 Fibrodysplasia ossificans progressiva, 135100 (3) ACVR1B 601300 Pancreatic cancer, somatic (3) ACVR2B 602730 Heterotaxy, visceral, 4, autosomal, 613751 (3) ACVRL1 601284 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) ACY1 104620 Aminoacylase 1 deficiency, 609924 (3) ADA 608958 Adenosine deaminase deficiency, partial, 102700 (3) ADA 608958 Severe combined immunodeficiency due to ADA deficiency, 102700 (3) ADAM17 603639 Inflammatory skin and bowel disease, neonatal, 614328 (3) ADAM9 602713 Cone-rod dystrophy 9, 612775 (3) ADAMTS10 608990 Weill-Marchesani syndrome 1, recessive, 277600 (3) ADAMTS13 604134 Thrombotic thrombocytopenic purpura, familial, 274150 (3) ADAMTS17 607511 Weill-Marchesani-like syndrome, 613195 (3) ADAMTS18 607512 Knobloch syndrome 2, 608454 (3) ADAMTS2 604539 Ehlers-Danlos syndrome, type VIIC, 225410 (3) ADAMTSL2 612277 Geleophysic dysplasia 1, 231050 (3) ADAMTSL4 610113 Ectopia lentis, isolated, autosomal recessive, 225100 (3) ADAR 146920 Dyschromatosis symmetrica hereditaria, 127400 (3) ADCK3 606980 Coenzyme Q10 deficiency, 607426 (3) ADCK3 606980 Spinocerebellar ataxia, autosomal recessive 9, 612016 (3) ADCY10 605205 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3) ADD1 102680 {Hypertension, essential, salt-sensitive}, 145500 (3) ADH1B 103720 {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3) ADH1B 103720 {Alcohol dependence, protection against}, 103780 (3) ADH1C 103730 {Alcohol dependence, protection against}, 103780 (3) ADH1C 103730 {Parkinson disease, susceptibility to}, 168600 (3) ADIPOQ 605441 Adiponectin deficiency, 612556 (3) ADK 102750 Hypermethioninemia due to adenosine kinase deficiency, 614300 (3) ADRA2C 104250 {Congestive heart failure and beta-blocker response, modifier of} (3) ADRB1 109630 [Resting heart rate], 607276 (3) ADRB1 109630 {Congestive heart failure and beta-blocker response, modifier of} (3) ADRB2 109690 Beta-2-adrenoreceptor agonist, reduced response to (3) ADRB2 109690 {Asthma, nocturnal, susceptibility to}, 600807 (3) ADRB2 109690 {Obesity, susceptibility to}, 601665 (3) ADRB3 109691 {Obesity, susceptibility to}, 601665 (3) ADSL 608222 Adenylosuccinase deficiency, 103050 (3) AFF2 300806 Mental retardation, X-linked, FRAXE type, 309548 (3) AFG3L2 604581 Ataxia, spastic, 5, autosomal recessive, 614487 (3) AFG3L2 604581 Spinocerebellar ataxia 28, 610246 (3) AFP 104150 [Hereditary persistence of alpha-fetoprotein] (3) AGA 613228 Aspartylglucosaminuria, 208400 (3) AGK 610345 Sengers syndrome, 212350 (3) AGL 610860 Glycogen storage disease IIIa, 232400 (3) AGL 610860 Glycogen storage disease IIIb, 232400 (3) AGPAT2 603100 Lipodystrophy, congenital generalized, type 1, 608594 (3) AGPS 603051 Rhizomelic chondrodysplasia punctata, type 3, 600121 (3) AGRN 103320 Myasthenia, limb-girdle, familial, 254300 (3) AGRP 602311 {Leanness, inherited} (3) AGRP 602311 {Obesity, late-onset}, 601665 (3) AGT 106150 Renal tubular dysgenesis, 267430 (3) AGT 106150 {Hypertension, essential, susceptibility to}, 145500 (3) AGT 106150 {Preeclampsia, susceptibility to} (3) AGTR1 106165 Hypertension, essential, 145500 (3) AGTR1 106165 Renal tubular dysgenesis, 267430 (3) AGTR2 300034 Mental retardation, X-linked 88, 300852 (3) AGXT 604285 Hyperoxaluria, primary, type 1, 259900 (3) AHCY 180960 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AHI1 608894 Joubert syndrome-3, 608629 (3) AICDA 605257 Immunodeficiency with hyper-IgM, type 2, 605258 (3) AIFM1 300169 Combined oxidative phosphorylation deficiency 6, 300816 (3) AIMP1 603605 Leukodystrophy, hypomyelinating, 3, 260600 (3) AIP 605555 Pituitary adenoma, ACTH-secreting, 219090 (3) AIP 605555 Pituitary adenoma, growth hormone-secreting, 102200 (3) AIP 605555 Pituitary adenoma, prolactin-secreting, 600634 (3) AIPL1 604392 Cone-rod dystrophy (3) AIPL1 604392 Leber congenital amaurosis 4, 604393 (3) AIPL1 604392 Retinitis pigmentosa, juvenile (3) AIRE 607358 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3) AK1 103000 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3) AK2 103020 Reticular dysgenesis, 267500 (3) AKAP10 604694 {Cardiac conduction defect, susceptibility to}, 115080 (3) AKAP9 604001 Long QT syndrome-11, 611820 (3) AKR1C2 600450 46XY sex reversal 8, 614279 (3) AKR1C2 600450 Obesity, hyperphagia, and developmental delay (3) AKR1C4 600451 {46XY sex reversal 8, modifier of}, 614279 (3) AKR1D1 604741 Bile acid synthesis defect, congenital, 2, 235555 (3) AKT1 164730 Breast cancer, somatic, 114480 (3) AKT1 164730 Colorectal cancer, somatic, 114500 (3) AKT1 164730 Ovarian cancer, somatic, 167000 (3) AKT1 164730 Proteus syndrome, somatic, 176920 (3) AKT2 164731 Diabetes mellitus, type II, 125853 (3) AKT2 164731 Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3) ALAD 125270 Porphyria, acute hepatic, 612740 (3) ALAD 125270 {Lead poisoning, susceptibility to}, 612740 (3) ALAS2 301300 Anemia, sideroblastic, X-linked, 300751 (3) ALAS2 301300 Protoporphyria, erythropoietic, X-linked, 300752 (3) ALB 103600 Analbuminemia (3) ALB 103600 [Dysalbuminemic hyperthyroxinemia] (3) ALDH18A1 138250 Cutis laxa, autosomal recessive, type IIIA, 219150 (3) ALDH2 100650 Alcohol sensitivity, acute, 610251 (3) ALDH2 100650 {Esophageal cancer, alcohol-related, susceptibility to} (3) ALDH2 100650 {Hangover, susceptibility to}, 610251 (3) ALDH2 100650 {Sublingual nitroglycerin, susceptibility to poor response to} (3) ALDH3A2 609523 Sjogren-Larsson syndrome, 270200 (3) ALDH4A1 606811 Hyperprolinemia, type II, 239510 (3) ALDH5A1 610045 Succinic semialdehyde dehydrogenase deficiency, 271980 (3) ALDH6A1 603178 Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3) ALDH7A1 107323 Epilepsy, pyridoxine-dependent, 266100 (3) ALDOA 103850 Glycogen storage disease XII, 611881 (3) ALDOB 612724 Fructose intolerance, 229600 (3) ALG1 605907 Congenital disorder of glycosylation, type Ik, 608540 (3) ALG10 603313 {Acquired long QT syndrome, reduced susceptibility to}, 613688 (3) ALG11 613666 Congenital disorder of glycosylation, type Ip, 613661 (3) ALG12 607144 Congenital disorder of glycosylation, type Ig, 607143 (3) ALG2 607905 Congenital disorder of glycosylation, type Ii, 607906 (3) ALG3 608750 Congenital disorder of glycosylation, type Id, 601110 (3) ALG6 604566 Congenital disorder of glycosylation, type Ic, 603147 (3) ALG8 608103 Congenital disorder of glycosylation, type Ih, 608104 (3) ALG9 606941 Congenital disorder of glycosylation, type Il, 608776 (3) ALK 105590 {Neuroblastoma, susceptibility to, 3}, 613014 (3) ALMS1 606844 Alstrom syndrome, 203800 (3) ALOX12B 603741 Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3) ALOX5 152390 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3) ALOX5 152390 {Atherosclerosis, susceptibility to} (3) ALOX5AP 603700 {Stroke, susceptibility to}, 601367 (3) ALOXE3 607206 Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3) ALPL 171760 Hypophosphatasia, adult, 146300 (3) ALPL 171760 Hypophosphatasia, childhood, 241510 (3) ALPL 171760 Hypophosphatasia, infantile, 241500 (3) ALPL 171760 Odontohypophosphatasia, 146300 (3) ALS2 606352 Amyotrophic lateral sclerosis, juvenile, 205100 (3) ALS2 606352 Primary lateral sclerosis, juvenile, 606353 (3) ALS2 606352 Spastic paralysis, infantile onset ascending, 607225 (3) ALX1 601527 Frontonasal dysplasia 3, 613456 (3) ALX3 606014 Frontonasal dysplasia 1, 136760 (3) ALX4 605420 Frontonasal dysplasia 2, 613451 (3) ALX4 605420 Parietal foramina 2, 609597 (3) AMACR 604489 Alpha-methylacyl-CoA racemase deficiency, 614307 (3) AMACR 604489 Bile acid synthesis defect, congenital, 4, 214950 (3) AMELX 300391 Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E, 301200 (3) AMH 600957 Persistent Mullerian duct syndrome, type I, 261550 (3) AMHR2 600956 Persistent Mullerian duct syndrome, type II, 261550 (3) AMN 605799 Megaloblastic anemia-1, Norwegian type, 261100 (3) AMPD1 102770 Myoadenylate deaminase deficiency (3) AMPD3 102772 [AMP deaminase deficiency, erythrocytic], 612874 (3) AMT 238310 Glycine encephalopathy, 605899 (3) ANG 105850 Amyotrophic lateral sclerosis 9, 611895 (3) ANGPTL3 604774 Hypobetalipoproteinemia, familial, 2, 605019 (3) ANGPTL4 605910 {Reduced triglycerides, susceptibility to} (3) ANK1 612641 Spherocytosis, type 1, 182900 (3) ANK2 106410 Cardiac arrhythmia, ankyrin-B-related, 600919 (3) ANK2 106410 Long QT syndrome-4, 600919 (3) ANKH 605145 Chondrocalcinosis 2, 118600 (3) ANKH 605145 Craniometaphyseal dysplasia, 123000 (3) ANKK1 608774 Dopamine receptor D2, reduced brain density of (3) ANKRD11 611192 KBG syndrome, 148050 (3) ANKRD26 610855 Thrombocytopenia 2, 188000 (3) ANO10 613726 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3) ANO5 608662 Gnathodiaphyseal dysplasia, 166260 (3) ANO5 608662 Miyoshi muscular dystrophy 3, 613319 (3) ANO5 608662 Muscular dystrophy, limb-girdle, type 2L, 611307 (3) ANO6 608663 Scott syndrome, 262890 (3) ANTXR1 606410 {Hemangioma, capillary infantile, susceptibility to}, 602089 (3) ANTXR2 608041 Fibromatosis, juvenile hyaline, 228600 (3) ANTXR2 608041 Hyalinosis, infantile systemic, 236490 (3) AP1S2 300629 Mental retardation, X-linked syndromic, Fried type, 300630 (3) AP3B1 603401 Hermansky-Pudlak syndrome 2, 608233 (3) AP4B1 607245 Cerebral palsy, spastic quadriplegic, 5, 614066 (3) AP4E1 607244 Cerebral palsy, spastic quadriplegic, 4, 613744 (3) AP4M1 602296 Cerebral palsy, spastic quadriplegic, 3, 612936 (3) AP4S1 607243 Cerebral palsy, spastic quadriplegic, 6, 614067 (3) AP5Z1 613653 Spastic paraplegia 48, autosomal recessive, 613647 (3) APBB2 602710 {Alzheimer disease, late-onset}, 104300 (3) APC 611731 Adenoma, periampullary, somatic (3) APC 611731 Adenomatous polyposis coli, 175100 (3) APC 611731 Brain tumor-polyposis syndrome 2 (3) APC 611731 Colorectal cancer, somatic, 114500 (3) APC 611731 Desmoid disease, hereditary, 135290 (3) APC 611731 Gardner syndrome (3) APC 611731 Gastric cancer, somatic, 613659 (3) APC 611731 Hepatoblastoma, somatic, 114550 (3) APCDD1 607479 Hypotrichosis simplex, 605389 (3) APOA1 107680 Amyloidosis, 3 or more types, 105200 (3) APOA1 107680 ApoA-I and apoC-III deficiency, combined (3) APOA1 107680 Corneal clouding, autosomal recessive (3) APOA1 107680 Hypoalphalipoproteinemia, 604091 (3) APOA2 107670 Apolipoprotein A-II deficiency (3) APOA2 107670 {Hypercholesterolemia, familial, modification of}, 143890 (3) APOA5 606368 Hyperchylomicronemia, late-onset, 144650 (3) APOA5 606368 {Hypertriglyceridemia, susceptibility to}, 145750 (3) APOB 107730 Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) APOB 107730 Hypobetalipoproteinemia (3) APOB 107730 Hypobetalipoproteinemia, normotriglyceridemic (3) APOC2 608083 Hyperlipoproteinemia, type Ib, 207750 (3) APOC3 107720 Hyperalphalipoproteinemia 2, 614028 (3) APOE 107741 Alzheimer disease-2, 104310 (3) APOE 107741 Hyperlipoproteinemia, type III (3) APOE 107741 Lipoprotein glomerulopathy, 611771 (3) APOE 107741 Sea-blue histiocyte disease, 269600 (3) APOE 107741 {Macular degeneration, age-related}, 603075 (3) APOE 107741 {Myocardial infarction susceptibility} (3) APOL1 603743 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3) APOL1 603743 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) APP 104760 Alzheimer disease 1, familial, 104300 (3) APP 104760 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3) APP 104760 Dementia, early-onset progressive, autosomal recessive (3) APRT 102600 Urolithiasis, 2,8-dihydroxyadenine (3) APTX 606350 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) APTX 606350 Coenzyme Q10 deficiency, 607426 (3) AQP1 107776 [Aquaporin-1 deficiency] (3) AQP1 107776 [Blood group, Colton], 110450 (3) AQP2 107777 Diabetes insipidus, nephrogenic, 125800 (3) AQP3 600170 [Blood group GIL], 607457 (3) AQP7 602974 [Glycerol quantitative trait locus], 614411 (3) ARFGEF2 605371 Periventricular heterotopia with microcephaly, 608097 (3) ARG1 608313 Argininemia, 207800 (3) ARHGAP26 605370 Leukemia, juvenile myelomonocytic, 607785 (3) ARHGAP9 610576 {Coronary artery spasm 3, susceptibility to} (3) ARHGEF10 608136 Slowed nerve conduction velocity, AD, 608236 (3) ARHGEF12 604763 Leukemia, acute myeloid, 601626 (3) ARHGEF6 300267 Mental retardation, X-linked 46, 300436 (3) ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8, 300607 (3) ARID1B 614556 Mental retardation, autosomal dominant 12, 614562 (3) ARL13B 608922 Joubert syndrome 8, 612291 (3) ARL6 608845 Bardet-Biedl syndrome 3, 209900 (3) ARL6 608845 Retinitis pigmentosa 55, 613575 (3) ARL6 608845 {Bardet-Biedl syndrome 1, modifier of}, 209900 (3) ARMS2 611313 {Macular degeneration, age-related, 8}, 613778 (3) ARNT 126110 Leukemia, acute myeloblastic (3) ARSA 607574 Metachromatic leukodystrophy, 250100 (3) ARSB 611542 Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) ARSE 300180 Chondrodysplasia punctata, X-linked recessive, 302950 (3) ART4 110600 [Blood group, Dombrock] (3) ARX 300382 Epileptic encephalopathy, early infantile, 1, 308350 (3) ARX 300382 Hydranencephaly with abnormal genitalia, 300215 (3) ARX 300382 Lissencephaly, X-linked 2, 300215 (3) ARX 300382 Mental retardation, X-linked 29 and others, 300419 (3) ARX 300382 Partington syndrome, 309510 (3) ARX 300382 Proud syndrome, 300004 (3) ASAH1 613468 Farber lipogranulomatosis, 228000 (3) ASCC1 614215 Barrett esophagus/esophageal adenocarcinoma, 614266 (3) ASCL1 100790 Central hypoventilation syndrome, congenital, 209880 (3) ASCL1 100790 Haddad syndrome, 209880 (3) ASIP 600201 [Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3) ASIP 600201 [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3) ASL 608310 Argininosuccinic aciduria, 207900 (3) ASPA 608034 Canavan disease, 271900 (3) ASPM 605481 Microcephaly, primary autosomal recessive, 5, 608716 (3) ASPN 608135 {Lumbar disc degeneration}, 603932 (3) ASPN 608135 {Osteoarthritis susceptibility 3}, 607850 (3) ASPSCR1 606236 Alveolar soft-part sarcoma, 606243 (3) ASS1 603470 Citrullinemia, 215700 (3) ASXL1 612990 Bohring-Opitz syndrome, 605039 (3) ASXL1 612990 Myelodysplastic syndrome, somatic, 614286 (3) ATCAY 608179 Ataxia, cerebellar, Cayman type, 601238 (3) ATG16L1 610767 {Inflammatory bowel disease 10}, 611081 (3) ATIC 601731 AICA-ribosiduria due to ATIC deficiency, 608688 (3) ATL1 606439 Neuropathy, hereditary sensory, type ID, 613708 (3) ATL1 606439 Spastic paraplegia-3A, 182600 (3) ATM 607585 Ataxia-telangiectasia, 208900 (3) ATM 607585 Lymphoma, B-cell non-Hodgkin, somatic (3) ATM 607585 Lymphoma, mantle cell (3) ATM 607585 T-cell prolymphocytic leukemia, sporadic (3) ATM 607585 {Breast cancer, susceptibility to}, 114480 (3) ATN1 607462 Dentatorubro-pallidoluysian atrophy, 125370 (3) ATP13A2 610513 Parkinson disease 9, 606693 (3) ATP1A2 182340 Alternating hemiplegia of childhood, 104290 (3) ATP1A2 182340 Migraine, familial basilar, 602481 (3) ATP1A2 182340 Migraine, familial hemiplegic, 2, 602481 (3) ATP1A3 182350 Dystonia-12, 128235 (3) ATP2A1 108730 Brody myopathy, 601003 (3) ATP2A2 108740 Acrokeratosis verruciformis, 101900 (3) ATP2A2 108740 Darier disease, 124200 (3) ATP2B2 108733 {Deafness, autosomal recessive 12, modifier of}, 601386 (3) ATP2C1 604384 Hailey-Hailey disease, 169600 (3) ATP5E 606153 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3) ATP6AP2 300556 Mental retardation, X-linked, with epilepsy, 300423 (3) ATP6V0A2 611716 Cutis laxa, autosomal recessive, type IIA, 219200 (3) ATP6V0A2 611716 Wrinkly skin syndrome, 278250 (3) ATP6V0A4 605239 Renal tubular acidosis, distal, autosomal recessive, 602722 (3) ATP6V1B1 192132 Renal tubular acidosis with deafness, 267300 (3) ATP7A 300011 Menkes disease, 309400 (3) ATP7A 300011 Occipital horn syndrome, 304150 (3) ATP7A 300011 Spinal muscular atrophy, distal, X-linked 3, 300489 (3) ATP7B 606882 Wilson disease, 277900 (3) ATP8B1 602397 Cholestasis, benign recurrent intrahepatic, 243300 (3) ATP8B1 602397 Cholestasis, progressive familial intrahepatic 1, 211600 (3) ATPAF2 608918 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3) ATR 601215 Seckel syndrome 1, 210600 (3) ATRX 300032 Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3) ATRX 300032 Alpha-thalassemia/mental retardation syndrome, 301040 (3) ATRX 300032 Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) ATXN1 601556 Spinocerebellar ataxia 1, 164400 (3) ATXN10 611150 Spinocerebellar ataxia 10, 603516 (3) ATXN2 601517 Spinocerebellar ataxia 2, 183090 (3) ATXN3 607047 Machado-Joseph disease, 109150 (3) ATXN7 607640 Spinocerebellar ataxia 7, 164500 (3) ATXN8 613289 Spinocerebellar ataxia 8, 608768 (3) ATXN8OS 603680 Spinocerebellar ataxia 8, 608768 (3) AUH 600529 3-methylglutaconic aciduria, type I, 250950 (3) AURKA 603072 {Colon cancer, susceptibility to}, 114500 (3) AURKC 603495 Spermatogenic failure 5, 243060 (3) AVP 192340 Diabetes insipidus, neurohypophyseal, 125700 (3) AVPR2 300538 Diabetes insipidus, nephrogenic, 304800 (3) AVPR2 300538 Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3) AXIN1 603816 Caudal duplication anomaly, 607864 (3) AXIN1 603816 Hepatocellular carcinoma, somatic, 114550 (3) AXIN2 604025 Colorectal cancer, 114500 (3) AXIN2 604025 Oligodontia-colorectal cancer syndrome, 608615 (3) B2M 109700 Hypoproteinemia, hypercatabolic, 241600 (3) B3GALNT1 603094 [Blood group, P system], 111400 (3) B3GALTL 610308 Peters-plus syndrome, 261540 (3) B3GAT3 606374 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3) B4GALT1 137060 Congenital disorder of glycosylation, type IId, 607091 (3) B4GALT7 604327 Ehlers-Danlos syndrome, progeroid form, 130070 (3) B9D1 614144 Meckel syndrome 9, 614209 (3) B9D2 611951 Meckel syndrome 10, 614175 (3) BAAT 602938 Hypercholanemia, familial, 607748 (3) BAG3 603883 Cardiomyopathy, dilated, 1HH, 613881 (3) BAG3 603883 Myopathy, myofibrillar, BAG3-related, 612954 (3) BANF1 603811 Nestor-Guillermo progeria syndrome, 614008 (3) BANK1 610292 {Systemic lupus erythematosus, association with}, 152700 (3) BAP1 603089 Tumor predisposition syndrome, 614327 (3) BARD1 601593 {Breast cancer, susceptibility to}, 114480 (3) BAX 600040 Colorectal cancer (3) BAX 600040 T-cell acute lymphoblastic leukemia (3) BBS1 209901 Bardet-Biedl syndrome 1, 209900 (3) BBS10 610148 Bardet-Biedl syndrome 10, 209900 (3) BBS12 610683 Bardet-Biedl syndrome 12, 209900 (3) BBS2 606151 Bardet-Biedl syndrome 2, 209900 (3) BBS4 600374 Bardet-Biedl syndrome 4, 209900 (3) BBS5 603650 Bardet-Biedl syndrome 5, 209900 (3) BBS7 607590 Bardet-Biedl syndrome 7, 209900 (3) BBS9 607968 Bardet-Biedl syndrome 9, 209900 (3) BCAM 612773 [Blood group, Auberger system], 111200 (3) BCAM 612773 [Blood group, Lutheran null], 247420 (3) BCAM 612773 [Blood group, Lutheran system], 111200 (3) BCHE 177400 Apnea, postanesthetic (3) BCKDHA 608348 Maple syrup urine disease, type Ia, 248600 (3) BCKDHB 248611 Maple syrup urine disease, type Ib, 248600 (3) BCL10 603517 Colon cancer, somatic, 114500 (3) BCL10 603517 Lymphoma, MALT, somatic, 137245 (3) BCL10 603517 {Lymphoma, follicular, somatic}, 613024 (3) BCL10 603517 {Male germ cell tumor, somatic}, 273300, (3) BCL10 603517 {Mesothelioma, somatic}, 156240 (3) BCL10 603517 {Sezary syndrome, somatic}, (3) BCL2 151430 Leukemia/lymphoma, B-cell, 2 (3) BCL7A 601406 B-cell non-Hodgkin lymphoma, high-grade (3) BCMO1 605748 Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3) BCOR 300485 Microphthalmia, syndromic 2, 300166 (3) BCR 151410 Leukemia, acute lymphocytic, 613065 (3) BCR 151410 Leukemia, chronic myeloid, 608232 (3) BCS1L 603647 Bjornstad syndrome, 262000 (3) BCS1L 603647 GRACILE syndrome, 603358 (3) BCS1L 603647 Leigh syndrome, 256000 (3) BCS1L 603647 Mitochondrial complex III deficiency, 124000 (3) BDNF 113505 Central hypoventilation syndrome, congenital, 209880 (3) BDNF 113505 {Anorexia nervosa, susceptibility to}, 606788 (3) BDNF 113505 {Bulimia nervosa, age of onset of weight loss in}, 607499 (3) BDNF 113505 {Memory impairment, susceptibility to} (3) BDNF 113505 {Obsessive-compulsive disorder, protection against}, 164230 (3) BEAN1 612051 Spinocerebellar ataxia 31, 117210 (3) BEST1 607854 Best macular dystrophy, 153700 (3) BEST1 607854 Bestrophinopathy, 611809 (3) BEST1 607854 Maculopathy, bull's-eye (3) BEST1 607854 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3) BEST1 607854 Retinitis pigmentosa, concentric, 613194 (3) BEST1 607854 Retinitis pigmentosa-50, 613194 (3) BEST1 607854 Vitelliform macular dystrophy, adult-onset, 608161 (3) BEST1 607854 Vitreoretinochoroidopathy, 193220 (3) BFSP1 603307 Cataract, cortical, juvenile-onset, 611391 (3) BFSP2 603212 Cataract, autosomal dominant, multiple types 1, 611597 (3) BFSP2 603212 Cataract, congenital, 604219 (3) BFSP2 603212 Cataract, juvenile-onset, 604219 (3) BHLHE41 606200 [Short sleeper], 612975 (3) BICC1 614295 {Renal dysplasia, cystic, susceptibility to}, 601331 (3) BIN1 601248 Myopathy, centronuclear, autosomal recessive, 255200 (3) BLK 191305 Maturity-onset diabetes of the young, type 11, 613375 (3) BLM 604610 Bloom syndrome, 210900 (3) BLMH 602403 {Alzheimer disease, susceptibility to}, 104300 (3) BLNK 604515 Agammaglobulinemia 4, 613502 (3) BLOC1S3 609762 Hermansky-Pudlak syndrome 8, 614077 (3) BLVRA 109750 Hyperbiliverdinemia, 614156 (3) BMP15 300247 Ovarian dysgenesis 2, 300510 (3) BMP15 300247 Premature ovarian failure 4, 300510 (3) BMP2 112261 Brachydactyly, type A2, 112600 (3) BMP2 112261 {HFE hemochromatosis, modifier of}, 235200 (3) BMP4 112262 Microphthalmia, syndromic 6, 607932 (3) BMP4 112262 Orofacial cleft 11, 600625 (3) BMPER 608699 Diaphanospondylodysostosis, 608022 (3) BMPR1A 601299 Juvenile polyposis syndrome, infantile form, 174900 (3) BMPR1A 601299 Polyposis syndrome, hereditary mixed, 2, 610069 (3) BMPR1A 601299 Polyposis, juvenile intestinal, 174900 (3) BMPR1B 603248 Brachydactyly, type A2, 112600 (3) BMPR1B 603248 Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3) BMPR2 600799 Pulmonary hypertension, familial primary, 178600 (3) BMPR2 600799 Pulmonary hypertension, primary, fenfluramine-associated, 178600 (3) BMPR2 600799 Pulmonary venoocclusive disease, 265450 (3) BOLA3 613183 Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) BPGM 613896 Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3) BRAF 164757 Adenocarcinoma of lung, somatic, 211980 (3) BRAF 164757 Cardiofaciocutaneous syndrome, 115150 (3) BRAF 164757 Colorectal cancer, somatic (3) BRAF 164757 LEOPARD syndrome 3, 613707 (3) BRAF 164757 Melanoma, malignant, somatic (3) BRAF 164757 Nonsmall cell lung cancer, somatic (3) BRAF 164757 Noonan syndrome 7, 613706 (3) BRAT1 614506 Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) BRCA1 113705 {Breast-ovarian cancer, familial, 1}, 604370 (3) BRCA1 113705 {Pancreatic cancer, susceptibility to, 4}, 614320 (3) BRCA2 600185 Fanconi anemia, complementation group D1, 605724 (3) BRCA2 600185 Pancreatic cancer, 613347 (3) BRCA2 600185 Prostate cancer, 176807 (3) BRCA2 600185 Wilms tumor, 194070 (3) BRCA2 600185 {Breast cancer, male, susceptibility to}, 114480 (3) BRCA2 600185 {Breast-ovarian cancer, familial, 2}, 612555 (3) BRCA2 600185 {Glioblastoma 3}, 613029 (3) BRCA2 600185 {Medulloblastoma}, 155255 (3) BRCA2 600185 {Pre-B-cell acute lymphoblastic leukemia}, (3) BRIP1 605882 Breast cancer, early-onset, 114480 (3) BRIP1 605882 Fanconi anemia, complementation group J, 609054 (3) BRWD3 300553 Mental retardation, X-linked 93, 300659 (3) BSCL2 606158 Lipodystrophy, congenital generalized, type 2, 269700 (3) BSCL2 606158 Neuropathy, distal hereditary motor, type V, 600794 (3) BSCL2 606158 Silver spastic paraplegia syndrome, 270685 (3) BSG 109480 [Blood group, OK], 111380 (3) BSND 606412 Bartter syndrome, type 4a, 602522 (3) BSND 606412 Sensorineural deafness with mild renal dysfunction, 602522 (3) BTD 609019 Biotinidase deficiency, 253260 (3) BTK 300300 Agammaglobulinemia and isolated hormone deficiency, 307200 (3) BTK 300300 Agammaglobulinemia, X-linked 1, 300755 (3) BTNL2 606000 {Sarcoidosis, susceptibility to, 2}, 612387 (3) BUB1 602452 Colorectal cancer with chromosomal instability (3) BUB1B 602860 Colorectal cancer, 114500 (3) BUB1B 602860 Mosaic variegated aneuploidy syndrome, 257300 (3) BUB1B 602860 [Premature chromatid separation trait], 176430 (3) C10orf2 606075 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) C10orf2 606075 Progressive external ophthalmoplegia, autosomal dominant, 3, 609286 (3) C12orf65 613541 Combined oxidative phosphorylation deficiency 7, 613559 (3) C14orf133 613401 Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3) C16orf57 613276 Poikiloderma with neutropenia, 604173 (3) C19orf12 614297 Neurodegeneration with brain iron accumulation 4, 614298 (3) C1GALT1C1 300611 Tn syndrome, 300622 (3) C1QA 120550 C1q deficiency, 613652 (3) C1QB 120570 C1q deficiency, 613652 (3) C1QC 120575 C1q deficiency, 613652 (3) C1QTNF5 608752 Retinal degeneration, late-onset, autosomal dominant, 605670 (3) C1S 120580 C1s deficiency, 613783 (3) C20orf7 612360 Mitochondrial complex 1 deficiency, 252010 (3) C2orf71 613425 Retinitis pigmentosa 54, 613428 (3) C4A 120810 C4a deficiency, 614380 (3) C4A 120810 [Blood group, Rodgers], 614374 (3) C4B 120820 C4B deficiency, 614379 (3) C6orf221 611687 Hydatidiform mole, recurrent, 2, 614293 (3) C7orf10 609187 [Glutaric aciduria III], 231690 (3) C8A 120950 C8 deficiency, type I, 613790 (3) C8B 120960 C8 deficiency, type II, 613789 (3) C8orf37 614477 Cone-rod dystrophy 16, 614500 (3) C8orf37 614477 Retinitis pigmentosa 64, 614500 (3) C8orf38 612392 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) C9orf72 614260 Amyotrophic lateral sclerosis with frontotemporal dementia, 105550 (3) CA12 603263 Hyperchlorhidrosis, isolated, 143860 (3) CA2 611492 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) CA4 114760 Retinitis pigmentosa 17, 600852 (3) CA8 114815 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3) CABP4 608965 Night blindness, congenital stationary, type 2B, 610427 (3) CACNA1A 601011 Episodic ataxia, type 2, 108500 (3) CACNA1A 601011 Migraine, familial hemiplegic, 1, 141500 (3) CACNA1A 601011 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) CACNA1A 601011 Spinocerebellar ataxia 6, 183086 (3) CACNA1C 114205 Brugada syndrome 3, 611875 (3) CACNA1C 114205 Timothy syndrome, 601005 (3) CACNA1F 300110 Aland Island eye disease, 300600 (3) CACNA1F 300110 Cone-rod dystrophy, X-linked, 3, 300476 (3) CACNA1F 300110 Night blindness, congenital stationary, X-linked, type 2A, 300071 (3) CACNA1H 607904 {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) CACNA1H 607904 {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3) CACNA1S 114208 Hypokalemic periodic paralysis, type 1, 170400 (3) CACNA1S 114208 {Malignant hyperthermia susceptibility 5}, 601887 (3) CACNA1S 114208 {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3) CACNA2D4 608171 Retinal cone dystrophy 4, 610478 (3) CACNB2 600003 Brugada syndrome 4, 611876 (3) CACNB4 601949 Episodic ataxia, type 5, 613855 (3) CACNB4 601949 {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3) CACNB4 601949 {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3) CACNG2 602911 Mental retardation, autosomal dominant 10, 614256 (3) CALCR 114131 {Osteoporosis, postmenopausal, susceptibility}, 166710 (3) CALR3 611414 Cardiomyopathy, familial hypertrophic, 19, 613875 (3) CANT1 613165 Desbuquois dysplasia, 251450 (3) CAPN10 605286 {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3) CAPN3 114240 Muscular dystrophy, limb-girdle, type 2A, 253600 (3) CARD9 607212 Candidiasis, familial, 2, autosomal recessive, 212050 (3) 212050 (3) CARTPT 602606 {Obesity, susceptibility to}, 601665 (3) CASK 300172 FG syndrome 4, 300422 (3) CASK 300172 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3) CASK 300172 Mental retardation, with or without nystagmus, 300422 (3) CASP10 601762 Autoimmune lymphoproliferative syndrome, type II, 603909 (3) CASP10 601762 Gastric cancer, somatic, 137215 (3) CASP10 601762 Non-Hodgkin lymphoma, somatic, 605027 (3) CASP12 608633 {Sepsis, susceptibility to} (3) CASP8 601763 Hepatocellular carcinoma, somatic, 114550 (3) CASP8 601763 Immunodeficiency due to CASP8 deficiency, 607271 (3) CASP8 601763 {Breast cancer, protection against}, 114480 (3) CASP8 601763 {Lung cancer, protection against}, 211980 (3) CASQ2 114251 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) CASR 601199 Hyperparathyroidism, neonatal, 239200 (3) CASR 601199 Hypocalcemia, autosomal dominant, 146200 (3) CASR 601199 Hypocalcemia, autosomal dominant, with Bartter syndrome (3) CASR 601199 Hypocalciuric hypercalcemia, type I, 145980 (3) CASR 601199 {Epilepsy, idiopathic generalized, susceptibility to, 8}, 612899 (3) CAT 115500 Acatalasemia, 614097 (3) CATSPER1 606389 Spermatogenic failure 7, 612997 (3) CAV1 601047 Lipodystrophy, congenital generalized, type 3, 612526 (3) CAV3 601253 Cardiomyopathy, familial hypertrophic, 192600 (3) CAV3 601253 Creatine phosphokinase, elevated serum, 123320 (3) CAV3 601253 Long QT syndrome-9, 611818 (3) CAV3 601253 Muscular dystrophy, limb-girdle, type IC, 607801 (3) CAV3 601253 Myopathy, distal, Tateyama type, 614321 (3) CAV3 601253 Rippling muscle disease, 606072 (3) CBL 165360 Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia, 613563 (3) CBS 613381 Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) CBS 613381 Thrombosis, hyperhomocysteinemic, 236200 (3) CBX2 602770 46XY sex reversal 5, 613080 (3) CC2D1A 610055 Mental retardation, autosomal recessive 3, 608443 (3) CC2D2A 612013 COACH syndrome, 216360 (3) CC2D2A 612013 Joubert syndrome 9, 612285 (3) CC2D2A 612013 Meckel syndrome, type 6, 612284 (3) CCBE1 612753 Hennekam lymphangiectasia-lymphedema syndrome, 235510 (3) CCDC28B 610162 {Bardet-Biedl syndrome, modifier of}, 209900 (3) CCDC39 613798 Ciliary dyskinesia, primary, 14, 613807 (3) CCDC40 613799 Ciliary dyskinesia, primary, 15, 613808 (3) CCDC50 611051 Deafness, autosomal dominant 44, 607453 (3) CCDC8 614145 Three M syndrome 3, 614205 (3) CCL11 601156 {Asthma, susceptibility to}, 600807 (3) CCL11 601156 {HIV1, resistance to}, 609423 (3) CCL2 158105 {Coronary artery disease, modifier of} (3) CCL2 158105 {HIV-1, resistance to}, 609423 (3) CCL2 158105 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) CCL2 158105 {Spina bifida, susceptibility to}, 182940 (3) CCL3L1 601395 {HIV/AIDS, susceptibility to}, 609423 (3) CCL5 187011 {HIV-1 disease, delayed progression of} (3) CCL5 187011 {HIV-1 disease, rapid progression of} (3) CCM2 607929 Cerebral cavernous malformations-2, 603284 (3) CCND1 168461 {Colorectal cancer, susceptibility to}, 114500 (3) CCND1 168461 {von Hippel-Lindau disease, modification of}, 193300 (3) CCR2 601267 {HIV infection, susceptibility/resistance to} (3) CCR5 601373 {Diabetes mellitus, insulin-dependent, 22}, 612522 (3) CCR5 601373 {HIV infection, susceptibility/resistance to} (3) CCR5 601373 {Hepatitis C virus, resistance to}, 609532 (3) CCR5 601373 {West nile virus, susceptibility to}, 610379 (3) CCT5 610150 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3) CD151 602243 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) CD151 602243 [Blood group, Raph], 179620 (3) CD19 107265 Immunodeficiency, common variable, 3, 613493 (3) CD207 604862 [Birbeck granule deficiency], 613393 (3) CD209 604672 {Dengue fever, protection against}, 614371 (3) CD209 604672 {HIV type 1, susceptibility to}, 609423 (3) CD209 604672 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) CD24 600074 {Multiple sclerosis, susceptibility to}, 126200 (3) CD244 605554 {Rheumatoid arthritis, susceptibility to}, 180300 (3) CD247 186780 Immunodeficiency due to defect in CD3-zeta, 610163 (3) CD2AP 604241 Glomerulosclerosis, focal segmental, 3, 607832 (3) CD320 606475 Methylmalonic aciduria due to transcobalamin receptor defect, 613646 (3) CD36 173510 Platelet glycoprotein IV deficiency, 608404 (3) CD36 173510 {Coronary heart disease, susceptibility to, 7}, 610938 (3) CD36 173510 {Malaria, cerebral, reduced risk of}, 611162 (3) CD36 173510 {Malaria, cerebral, susceptibility to}, 611162 (3) CD3D 186790 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3) CD3E 186830 Immunodeficiency due to defect in CD3-epsilon (3) CD3E 186830 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3) CD3G 186740 Immunodeficiency due to defect in CD3-gamma (3) CD4 186940 OKT4 epitope deficiency, 613949 (3) CD40 109535 Immunodeficiency with hyper-IgM, type 3, 606843 (3) CD40LG 300386 Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) CD44 107269 [Blood group, Indian system] (3) CD46 120920 {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3) CD55 125240 [Blood group Cromer], 613793 (3) CD59 107271 CD59 deficiency, 612300 (3) CD79A 112205 Agammaglobulinemia 3, 613501 (3) CD79B 147245 Agammaglobulinemia 6, 612692 (3) CD81 186845 Immunodeficiency, common variable, 6, 613496 (3) CD8A 186910 CD8 deficiency, familial, 608957 (3) CD96 606037 C syndrome, 211750 (3) CDAN1 607465 Anemia, congenital dyserythropoietic, type I, 224120 (3) CDC6 602627 Meier-Gorlin syndrome 5, 613805 (3) CDC73 607393 Hyperparathyroidism, familial primary, 145000 (3) CDC73 607393 Hyperparathyroidism-jaw tumor syndrome, 145001 (3) CDC73 607393 Parathyroid adenoma with cystic changes, 145001 (3) CDC73 607393 Parathyroid carcinoma, 608266 (3) CDH1 192090 Endometrial carcinoma, somatic, 608089 (3) CDH1 192090 Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3) CDH1 192090 Ovarian carcinoma, somatic, 167000 (3) CDH1 192090 {Breast cancer, lobular}, 114480 (3) CDH1 192090 {Prostate cancer, susceptibility to}, 176807 (3) CDH15 114019 Mental retardation, autosomal dominant 3, 612580 (3) CDH23 605516 Deafness, autosomal recessive 12, 601386 (3) CDH23 605516 Usher syndrome, type 1D, 601067 (3) CDH23 605516 Usher syndrome, type 1D/F digenic, 601067 (3) CDH3 114021 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3) CDH3 114021 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3) CDHR1 609502 Cone-rod dystrophy 15, 613660 (3) CDK4 123829 {Melanoma, cutaneous malignant, 3}, 609048 (3) CDK5RAP2 608201 Microcephaly, primary autosomal recessive, 3, 604804 (3) CDKAL1 611259 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) CDKL5 300203 Angelman syndrome-like, 105830 (3) CDKL5 300203 Epileptic encephalopathy, early infantile, 2, 300672 (3) CDKN1B 600778 Multiple endocrine neoplasia, type IV, 610755 (3) CDKN1C 600856 Beckwith-Wiedemann syndrome, 130650 (3) CDKN2A 600160 Li-Fraumeni syndrome, 151623 (3) CDKN2A 600160 Melanoma and neural system tumor syndrome, 155755 (3) CDKN2A 600160 Orolaryngeal cancer, multiple, (3) CDKN2A 600160 Pancreatic cancer/melanoma syndrome, 606719 (3) CDKN2A 600160 {Melanoma, cutaneous malignant, 2}, 155601 (3) CDON 608707 Holoprosencephaly 11, 614226 (3) CDSN 602593 Hypotrichosis simplex of scalp 1, 146520 (3) CDSN 602593 Peeling skin syndrome, 270300 (3) CDT1 605525 Meier-Gorlin syndrome 4, 613804 (3) CEBPA 116897 Leukemia, acute myeloid, 601626 (3) CEBPE 600749 Specific granule deficiency, 245480 (3) CEL 114840 Maturity-onset diabetes of the young, type VIII, 609812 (3) CENPJ 609279 Microcephaly, primary autosomal recessive, 6, 608393 (3) CENPJ 609279 Seckel syndrome 4, 613676 (3) CEP152 613529 Microcephaly, primary autosomal recessive, 4, 604321 (3) CEP152 613529 Seckel syndrome 5, 613823 (3) CEP290 610142 Bardet-Biedl syndrome 14, 209900 (3) CEP290 610142 Joubert syndrome 5, 610188 (3) CEP290 610142 Leber congenital amaurosis 10, 611755 (3) CEP290 610142 Meckel syndrome type 4, 611134 (3) CEP290 610142 Senior-Loken syndrome 6, 610189 (3) CEP41 610523 Joubert syndrome 15, 614464 (3) CEP57 607951 Mosaic variegated aneuploidy syndrome 2, 614114 (3) CERKL 608381 Retinitis pigmentosa 26, 608380 (3) CES1 114835 Carboxylesterase 1 deficiency (3) CETP 118470 Hyperalphalipoproteinemia, 143470 (3) CETP 118470 [High density lipoprotein cholesterol level QTL 10], 143470 (3) CFB 138470 {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3) CFB 138470 {Macular degeneration, age-related, reduced risk of}, 603075 (3) CFC1 605194 Double-outlet right ventricle, 217095 (3) CFC1 605194 Heterotaxy, visceral, 2, autosomal, 605376 (3) CFC1 605194 Transposition of the great arteries, dextro-looped 2, 613853 (3) CFD 134350 Complement factor D deficiency, 613912 (3) CFH 134370 Basal laminar drusen, 126700 (3) CFH 134370 Complement factor H deficiency, 609814 (3) CFH 134370 {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3) CFH 134370 {Macular degeneration, age-related, 4}, 610698 (3) CFHR1 134371 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) CFHR1 134371 {Macular degeneration, age-related, reduced risk of}, 603075 (3) CFHR3 605336 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) CFHR3 605336 {Macular degeneration, age-related, reduced risk of}, 603075 (3) CFI 217030 Complement factor I deficiency, 610984 (3) CFI 217030 {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3) CFL2 601443 Nemaline myopathy 7, 610687 (3) CFP 300383 Properdin deficiency, X-linked, 312060 (3) CFTR 602421 Congenital bilateral absence of vas deferens, 277180 (3) CFTR 602421 Cystic fibrosis, 219700 (3) CFTR 602421 Sweat chloride elevation without CF (3) CFTR 602421 {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3) CFTR 602421 {Hypertrypsinemia, neonatal} (3) CFTR 602421 {Pancreatitis, idiopathic}, 167800 (3) CHAT 118490 Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3) CHD7 608892 CHARGE syndrome, 214800 (3) CHD7 608892 Hypogonadotropic hypogonadism, 146110 (3) CHD7 608892 Kallmann syndrome 5, 612370 (3) CHD7 608892 {Scoliosis, idiopathic 3}, 608765 (3) CHEK2 604373 Li-Fraumeni syndrome, 609265 (3) CHEK2 604373 Osteosarcoma, somatic, 259500 (3) CHEK2 604373 {Breast and colorectal cancer, susceptibility to} (3) CHEK2 604373 {Breast cancer, susceptibility to}, 114480 (3) CHEK2 604373 {Prostate cancer, familial, susceptibility to}, 176807 (3) CHI3L1 601525 {Asthma-related traits, susceptibility to, 7}, 611960 (3) CHI3L1 601525 {Schizophrenia, susceptibility to}, 181500 (3) CHIC2 604332 {Leukemia, acute myeloid}, 601626 (3) CHIT1 600031 [Chitotriosidase deficiency], 614122 (3) CHKB 612395 Muscular dystrophy, congenital, megaconial type, 602541 (3) CHM 300390 Choroideremia, 303100 (3) CHMP2B 609512 Amyotrophic lateral sclerosis, CHMP2B-related (3) CHMP2B 609512 Dementia, familial, nonspecific, 600795 (3) CHMP4B 610897 Cataract, posterior polar, 3, 605387 (3) CHN1 118423 Duane retraction syndrome 2, 604356 (3) CHRM3 118494 Eagle-Barrett syndrome, 100100 (3) CHRNA1 100690 Multiple pterygium syndrome, lethal type, 253290 (3) CHRNA1 100690 Myasthenic syndrome, fast-channel congenital, 608930 (3) CHRNA1 100690 Myasthenic syndrome, slow-channel congenital, 601462 (3) CHRNA2 118502 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3) CHRNA3 118503 {Lung cancer susceptibility 2}, 612052 (3) CHRNA4 118504 Epilepsy, nocturnal frontal lobe, 1, 600513 (3) CHRNA4 118504 {Nicotine addiction, susceptibility to}, 188890 (3) CHRNA5 118505 {Lung cancer susceptibility 2}, 612052 (3) CHRNB1 100710 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) CHRNB1 100710 Myasthenic syndrome, slow-channel congenital, 601462 (3) CHRNB2 118507 Epilepsy, nocturnal frontal lobe, 3, 605375 (3) CHRND 100720 Multiple pterygium syndrome, lethal type, 253290 (3) CHRND 100720 Myasthenic syndrome, fast-channel congenital, 608930 (3) CHRND 100720 Myasthenic syndrome, slow-channel congenital, 601462 (3) CHRNE 100725 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) CHRNE 100725 Myasthenic syndrome, fast-channel congenital, 608930 (3) CHRNE 100725 Myasthenic syndrome, slow-channel congenital, 601462 (3) CHRNG 100730 Escobar syndrome, 265000 (3) CHRNG 100730 Multiple pterygium syndrome, lethal type, 253290 (3) CHST14 608429 Ehlers-Danlos syndrome, musculocontractural type , 601776 (3) CHST3 603799 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3) CHST6 605294 Macular corneal dystrophy, 217800 (3) CHSY1 608183 Temtamy preaxial brachydactyly syndrome, 605282 (3) CHUK 600664 Cocoon syndrome, 613630 (3) CIITA 600005 Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) CIITA 600005 {Rheumatoid arthritis, susceptibility to}, 180300 (3) CILP 603489 {Lumbar disc disease, susceptibility to}, 603932 (3) CIRH1A 607456 Cirrhosis, North American Indian childhood type, 604901 (3) CISD2 611507 Wolfram syndrome 2, 604928 (3) CISH 602441 {Bacteremia, susceptibility to}, 614383 (3) CISH 602441 {Malaria, susceptibility to}, 611162 (3) CISH 602441 {Tuberculosis, susceptibility to}, 607948 (3) CITED2 602937 Atrial septal defect 8, 614433 (3) CITED2 602937 Ventricular septal defect 2, 614431 (3) CLCF1 607672 Cold-induced sweating syndrome 1, 610313 (3) CLCN1 118425 Myotonia congenita, dominant, 160800 (3) CLCN1 118425 Myotonia congenita, recessive, 255700 (3) CLCN1 118425 Myotonia levior, recessive (3) CLCN2 600570 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3) CLCN2 600570 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3) CLCN2 600570 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3) CLCN5 300008 Dent disease, 300009 (3) CLCN5 300008 Hypophosphatemic rickets, 300554 (3) CLCN5 300008 Nephrolithiasis, type I, 310468 (3) CLCN5 300008 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3) CLCN7 602727 Osteopetrosis, autosomal dominant 2, 166600 (3) CLCN7 602727 Osteopetrosis, autosomal recessive 4, 611490 (3) CLCNKA 602024 Bartter syndrome, type 4b, digenic, 613090 (3) CLCNKB 602023 Bartter syndrome, type 3, 607364 (3) CLCNKB 602023 Bartter syndrome, type 4, digenic, 602522 (3) CLDN1 603718 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) CLDN14 605608 Deafness, autosomal recessive 29, 614035 (3) CLDN16 603959 Hypomagnesemia 3, renal, 248250 (3) CLDN19 610036 Hypomagnesemia 5, renal, with ocular involvement, 248190 (3) CLEC7A 606264 Candidiasis, familial, 4, autosomal dominant, 613108 (3) CLEC7A 606264 {Aspergillosis, susceptibility to}, 614079 (3) CLN3 607042 Ceroid lipofuscinosis, neuronal, 3, 204200 (3) CLN5 608102 Ceroid lipofuscinosis, neuronal, 5, 256731 (3) CLN6 606725 Ceroid lipofuscinosis, neuronal, 6, 601780 (3) CLN6 606725 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3) CLN8 607837 Ceroid lipofuscinosis, neuronal, 8, 600143 (3) CLN8 607837 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3) CLRN1 606397 Retinitis pigmentosa 61, 614180 (3) CLRN1 606397 Usher syndrome, type 3A, 276902 (3) CNBP 116955 Myotonic dystrophy 2, 602668 (3) CNGA1 123825 Retinitis pigmentosa 49, 613756 (3) CNGA3 600053 Achromatopsia-2, 216900 (3) CNGB1 600724 Retinitis pigmentosa 45, 613767 (3) CNGB3 605080 Achromatopsia-3, 262300 (3) CNGB3 605080 Macular degeneration, juvenile, 248200 (3) CNNM2 607803 Hypomagnesemia 6, renal, 613882 (3) CNNM4 607805 Jalili syndrome, 217080 (3) CNTN1 600016 Myopathy, congenital, Compton-North, 612540 (3) CNTNAP2 604569 Cortical dysplasia-focal epilepsy syndrome, 610042 (3) CNTNAP2 604569 Pitt-Hopkins like syndrome 1, 610042 (3) CNTNAP2 604569 {Autism susceptibility 15}, 612100 (3) COA5 613920 Mitochondrial complex IV deficiency, 220110 (3) COCH 603196 Deafness, autosomal dominant 9, 601369 (3) COG1 606973 Congenital disorder of glycosylation, type IIg, 611209 (3) COG4 606976 Congenital disorder of glycosylation, type IIj, 613489 (3) COG5 606821 Congenital disorder of glycosylation, type IIi, 613612 (3) COG7 606978 Congenital disorder of glycosylation, type IIe, 608779 (3) COG8 606979 Congenital disorder of glycosylation, type IIh, 611182 (3) COL10A1 120110 Metaphyseal chondrodysplasia, Schmid type, 156500 (3) COL11A1 120280 Fibrochondrogenesis, 228520 (3) COL11A1 120280 Marshall syndrome, 154780 (3) COL11A1 120280 Stickler syndrome, type II, 604841 (3) COL11A1 120280 {Lumbar disc herniation, susceptibility to}, 603932 (3) COL11A2 120290 Deafness, autosomal dominant 13, 601868 (3) COL11A2 120290 Deafness, autosomal recessive 53, 609706 (3) COL11A2 120290 Fibrochondrogenesis 2, 614524 (3) COL11A2 120290 Otospondylomegaepiphyseal dysplasia, 215150 (3) COL11A2 120290 Stickler syndrome, type III, 184840 (3) COL11A2 120290 Weissenbacher-Zweymuller syndrome, 277610 (3) COL17A1 113811 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) COL18A1 120328 Knobloch syndrome, type 1, 267750 (3) COL1A1 120150 Caffey disease, 114000 (3) COL1A1 120150 Ehlers-Danlos syndrome, type I, 130000 (3) COL1A1 120150 Ehlers-Danlos syndrome, type VIIA, 130060 (3) COL1A1 120150 OI type II, 166210 (3) COL1A1 120150 OI type III, 259420 (3) COL1A1 120150 OI type IV, 166220 (3) COL1A1 120150 Osteogenesis imperfecta, type I, 166200 (3) COL1A1 120150 [Bone mineral density variation QTL] (3) COL1A1 120150 {Osteoporosis}, 166710 (3) COL1A2 120160 Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3) COL1A2 120160 Ehlers-Danlos syndrome, type VIIB, 130060 (3) COL1A2 120160 Osteogenesis imperfecta, type II, 166210 (3) COL1A2 120160 Osteogenesis imperfecta, type III, 259420 (3) COL1A2 120160 Osteogenesis imperfecta, type IV, 166220 (3) COL1A2 120160 {Osteoporosis, postmenopausal}, 166710 (3) COL2A1 120140 Achondrogenesis, type II or hypochondrogenesis, 200610 (3) COL2A1 120140 Avascular necrosis of the femoral head, 608805 (3) COL2A1 120140 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) COL2A1 120140 Kniest dysplasia, 156550 (3) COL2A1 120140 Legg-Calve-Perthes disease, 150600 (3) COL2A1 120140 Osteoarthritis with mild chondrodysplasia, 604864 (3) COL2A1 120140 Otospondylomegaepiphyseal dysplasia, 215150 (3) COL2A1 120140 Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) COL2A1 120140 SED congenita, 183900 (3) COL2A1 120140 SED, Namaqualand type (3) COL2A1 120140 SMED Strudwick type, 184250 (3) COL2A1 120140 Spondyloperipheral dysplasia, 271700 (3) COL2A1 120140 Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) COL2A1 120140 Stickler syndrome, type I, 108300 (3) COL2A1 120140 Vitreoretinopathy with phalangeal epiphyseal dysplasia (3) COL3A1 120180 Ehlers-Danlos syndrome, type III, 130020 (3) COL3A1 120180 Ehlers-Danlos syndrome, type IV, 130050 (3) COL4A1 120130 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 (3) COL4A1 120130 Brain small vessel disease with Axenfeld-Rieger anomaly, 607595 (3) COL4A1 120130 Brain small vessel disease with hemorrhage, 607595 (3) COL4A1 120130 Porencephaly 1, 175780 (3) COL4A2 120090 Porencephaly 2, 614483 (3) COL4A2 120090 {Stroke, hemorrhagic}, 614519 (3) COL4A3 120070 Alport syndrome, autosomal recessive, 203780 (3) COL4A3 120070 Hematuria, benign familial, 141200 (3) COL4A4 120131 Alport syndrome, autosomal recessive, 203780 (3) COL4A4 120131 Hematuria, familial benign (3) COL4A5 303630 Alport syndrome, 301050 (3) COL5A1 120215 Ehlers-Danlos syndrome, type I, 130000 (3) COL5A1 120215 Ehlers-Danlos syndrome, type II, 130010 (3) COL5A2 120190 Ehlers-Danlos syndrome, type I, 130000 (3) COL6A1 120220 Bethlem myopathy, 158810 (3) COL6A1 120220 Ullrich congenital muscular dystrophy, 254090 (3) COL6A2 120240 Bethlem myopathy, 158810 (3) COL6A2 120240 Myosclerosis, congenital, 255600 (3) COL6A2 120240 Ullrich congenital muscular dystrophy, 254090 (3) COL6A3 120250 Bethlem myopathy, 158810 (3) COL6A3 120250 Ullrich congenital muscular dystrophy, 254090 (3) COL7A1 120120 EBD inversa, 226600 (3) COL7A1 120120 EBD, Bart type, 132000 (3) COL7A1 120120 EBD, localisata variant (3) COL7A1 120120 Epidermolysis bullosa dystrophica, AD, 131750 (3) COL7A1 120120 Epidermolysis bullosa dystrophica, AR, 226600 (3) COL7A1 120120 Epidermolysis bullosa pruriginosa, 604129 (3) COL7A1 120120 Epidermolysis bullosa, pretibial, 131850 (3) COL7A1 120120 Toenail dystrophy, isolated, 607523 (3) COL7A1 120120 Transient bullous of the newborn, 131705 (3) COL8A2 120252 Corneal dystrophy polymorphous posterior, 2, 609140 (3) COL8A2 120252 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3) COL9A1 120210 Epiphyseal dysplasia, multiple, 6, 614135 (3) COL9A1 120210 Stickler syndrome, type IV, 614134 (3) COL9A2 120260 Epiphyseal dysplasia, multiple, 2, 600204 (3) COL9A2 120260 Stickler syndrome, type V, 614284 (3) COL9A2 120260 {Intervertebral disc disease, susceptibility to}, 603932 (3) COL9A3 120270 Epiphyseal dysplasia, multiple, 3, 600969 (3) COL9A3 120270 Epiphyseal dysplasia, multiple, with myopathy (3) COL9A3 120270 {Intervertebral disc disease, susceptibility to}, 603932 (3) COLQ 603033 Endplate acetylcholinesterase deficiency, 603034 (3) COMP 600310 Epiphyseal dysplasia, multiple 1, 132400 (3) COMP 600310 Pseudoachondroplasia, 177170 (3) COMT 116790 {Panic disorder, susceptibility to}, 167870 (3) COMT 116790 {Schizophrenia, susceptibility to}, 181500 (3) COQ2 609825 Coenzyme Q10 deficiency, 607426 (3) COQ9 612837 Coenzyme Q10 deficiency, 607426 (3) COX10 602125 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (3) COX14 614478 Mitochondrial complex IV deficiency, 220110 (3) COX15 603646 Cardiomyopathy, hypertrophic, early-onset fatal (3) COX15 603646 Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3) COX4I2 607976 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3) COX6B1 124089 Cytochrome c oxidase deficiency, 220110 (3) CPA6 609562 Epilepsy, familial temporal lobe, 5, 614417 (3) CPA6 609562 Febrile seizures, familial, 11, 614418 (3) CPN1 603103 Carboxypeptidase N deficiency, 212070 (3) CPOX 612732 Coproporphyria, 121300 (3) CPOX 612732 Harderoporphyria, 121300 (3) CPS1 608307 Carbamoylphosphate synthetase I deficiency, 237300 (3) CPS1 608307 {Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3) CPS1 608307 {Venoocclusive disease after bone marrow transplantation} (3) CPT1A 600528 CPT deficiency, hepatic, type IA, 255120 (3) CPT2 600650 CPT II deficiency, lethal neonatal, 608836 (3) CPT2 600650 CPT deficiency, hepatic, type II, 600649 (3) CPT2 600650 Myopathy due to CPT II deficiency, 255110 (3) CPT2 600650 {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3) CR1 120620 [Blood group, Knops system], 607486 (3) CR1 120620 {Malaria, severe, resistance to}, 611162 (3) CR2 120650 {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3) CRADD 603454 Mental retardation, autosomal recessive 34, 614499 (3) CRB1 604210 Leber congenital amaurosis 8, 613835 (3) CRB1 604210 Pigmented paravenous chorioretinal atrophy, 172870 (3) CRB1 604210 Retinitis pigmentosa-12, autosomal recessive, 600105 (3) CRBN 609262 Mental retardation, autosomal recessive 2, 607417 (3) CREB1 123810 Histiocytoma, angiomatoid fibrous, somatic, 612160 (3) CREBBP 600140 Rubinstein-Taybi syndrome, 180849 (3) CRELD1 607170 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) CRELD1 607170 {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3) CRLF1 604237 Cold-induced sweating syndrome, 272430 (3) CRLF1 604237 Crisponi syndrome, 601378 (3) CRTAP 605497 Osteogenesis imperfecta, type VII, 610682 (3) CRTC1 607536 Mucoepidermoid salivary gland carcinoma (3) CRX 602225 Cone-rod retinal dystrophy-2, 120970 (3) CRX 602225 Leber congenital amaurosis 7, 613829 (3) CRYAA 123580 Cataract, autosomal dominant nuclear (3) CRYAA 123580 Cataract, congenital, autosomal recessive (3) CRYAA 123580 Cataract, zonular central nuclear, autosomal dominant (3) CRYAB 123590 Cataract, posterior polar 2, 613763 (3) CRYAB 123590 Myopathy, myofibrillar, alpha-B crystallin-related, 608810 (3) CRYAB 123590 Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3) CRYBA1 123610 Cataract, congenital zonular, with sutural opacities, 600881 (3) CRYBA4 123631 Cataract, lamellar 2, 610425 (3) CRYBA4 123631 Microphthalmia with cataract 4, 610426 (3) CRYBB1 600929 Cataract, congenital nuclear, autosomal recessive 3, 611544 (3) CRYBB1 600929 Cataract, pulverulent (3) CRYBB2 123620 Cataract, Coppock-like, 604307 (3) CRYBB2 123620 Cataract, cerulean, type 2, 601547 (3) CRYBB2 123620 Cataract, sutural, with punctate and cerulean opacities, 607133 (3) CRYBB3 123630 Cataract, congenital nuclear, 2, 609741 (3) CRYGC 123680 Cataract, Coppock-like, 604307 (3) CRYGC 123680 Cataract, variable zonular pulverulent (3) CRYGD 123690 Cataract, congenital, cerulean type, 3, 608983 (3) CRYGD 123690 Cataract, crystalline aculeiform, 115700 (3) CRYGD 123690 Cataract, nonnuclear polymorphic congenital, 601286 (3) CRYGD 123690 Cataracts, punctate, progressive juvenile-onset (3) CRYGS 123730 Cataract, progressive polymorphic cortical (3) CRYM 123740 Deafness, autosomal dominant 40 (3) CSF1R 164770 Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3) CSF2RA 306250 Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3) CSF2RB 138981 Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3) CSF3R 138971 Neutrophilia, hereditary, 162830 (3) CSRP3 600824 Cardiomyopathy, dilated, 1M, 607482 (3) CSRP3 600824 Cardiomyopathy, familial hypertrophic, 12, 612124 (3) CST3 604312 Cerebral amyloid angiopathy, 105150 (3) CST3 604312 Macular degeneration, age-related, 11, 611953 (3) CSTA 184600 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, 607936 (3) CSTB 601145 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) CTC1 613129 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3) CTDP1 604927 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3) CTH 607657 Cystathioninuria, 219500 (3) CTH 607657 Homocysteine, total plasma, elevated (3) CTHRC1 610635 Barrett esophagus/esophageal adenocarcinoma, 614266 (3) CTLA4 123890 {Celiac disease, susceptibility to, 3}, 609755 (3) CTLA4 123890 {Diabetes mellitus, insulin-dependent, susceptibility to}, 601388 (3) CTLA4 123890 {Graves disease, susceptibility to, 4} (3) CTLA4 123890 {Hypothyroidism, autoimmune}, 140300 (3) CTNNB1 116806 Colorectal cancer (3) CTNNB1 116806 Hepatoblastoma (3) CTNNB1 116806 Hepatocellular carcinoma, 114550 (3) CTNNB1 116806 Ovarian cancer, 167000 (3) CTNNB1 116806 Pilomatricoma, 132600 (3) CTNS 606272 Cystinosis, atypical nephropathic (3) CTNS 606272 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3) CTNS 606272 Cystinosis, nephropathic, 219800 (3) CTNS 606272 Cystinosis, ocular nonnephropathic, 219750 (3) CTRC 601405 {Pancreatitis, chronic, susceptibility to}, 167800 (3) CTSA 613111 Galactosialidosis, 256540 (3) CTSC 602365 Haim-Munk syndrome, 245010 (3) CTSC 602365 Papillon-Lefevre syndrome, 245000 (3) CTSC 602365 Periodontitis, juvenile, 170650 (3) CTSD 116840 Ceroid lipofuscinosis, neuronal, 10, 610127 (3) CTSK 601105 Pycnodysostosis, 265800 (3) CUBN 602997 Megaloblastic anemia-1, Finnish type, 261100 (3) CUL3 603136 Pseudohypoaldosteronism, type IIE, 614496 (3) CUL4B 300304 Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) CUL7 609577 3-M syndrome 1, 273750 (3) CX3CR1 601470 {Coronary artery disease, resistance to}, 607339 (3) CX3CR1 601470 {Macular degeneration, age-related, 12}, 613784 (3) CX3CR1 601470 {Rapid progression to AIDS from HIV1 infection}, 609423 (3) CXCL12 600835 {AIDS, resistance to}, 609423 (3) CXCR1 146929 {AIDS, slow progression to}, 609423 (3) CXCR4 162643 Myelokathexis, isolated (3) CXCR4 162643 WHIM syndrome, 193670 (3) CYB5A 613218 Methemoglobinemia, type IV, 250790 (3) CYB5R3 613213 Methemoglobinemia, type I, 250800 (3) CYB5R3 613213 Methemoglobinemia, type II, 250800 (3) CYBA 608508 Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) CYBB 300481 Atypical mycobacteriosis, familial, X-linked 2, 300645 (3) CYBB 300481 Chronic granulomatous disease, X-linked, 306400 (3) CYCS 123970 Thrombocytopenia 4, 612004 (3) CYLD 605018 Brooke-Spiegler syndrome, 605041 (3) CYLD 605018 Cylindromatosis, familial, 132700 (3) CYLD 605018 Trichoepithelioma, multiple familial, 1, 601606 (3) CYP11A1 118485 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) CYP11B1 610613 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3) CYP11B1 610613 Aldosteronism, glucocorticoid-remediable, 103900 (3) CYP11B2 124080 Aldosterone to renin ratio raised (3) CYP11B2 124080 Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) CYP11B2 124080 Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3) CYP11B2 124080 {Low renin hypertension, susceptibility to} (3) CYP17A1 609300 17,20-lyase deficiency, isolated, 202110 (3) CYP17A1 609300 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3) CYP19A1 107910 Aromatase deficiency, 613546 (3) CYP19A1 107910 Aromatase excess syndrome, 139300 (3) CYP1B1 601771 Glaucoma 3A, primary congenital, 231300 (3) CYP1B1 601771 Glaucoma, early-onset, digenic (3) CYP1B1 601771 Glaucoma, primary open angle, adult-onset, 137760 (3) CYP1B1 601771 Glaucoma, primary open angle, juvenile-onset, 137750 (3) CYP1B1 601771 Peters anomaly, 604229 (3) CYP21A2 613815 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) CYP21A2 613815 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3) CYP24A1 126065 Hypercalcemia, infantile, 143880 (3) CYP27A1 606530 Cerebrotendinous xanthomatosis, 213700 (3) CYP27B1 609506 Vitamin D-dependent rickets, type I, 264700 (3) CYP2A6 122720 Coumarin resistance, 122700 (3) CYP2A6 122720 {Lung cancer, resistance to}, 211980 (3) CYP2A6 122720 {Nicotine addiction, protection from}, 188890 (3) CYP2B6 123930 Efavirenz, poor metabolism of, 614546 (3) CYP2B6 123930 {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3) CYP2C19 124020 Clopidogrel, impaired responsiveness to, 609535 (3) CYP2C19 124020 Mephenytoin poor metabolizer, 609535 (3) CYP2C19 124020 Opremazole poor metabolizer, 609535 (3) CYP2C19 124020 Proguanil poor metabolizer, 609535 (3) CYP2C8 601129 Rhabdomyolysis, cerivastatin-induced (3) CYP2C9 601130 Tolbutamide poor metabolizer (3) CYP2C9 601130 Warfarin sensitivity, 122700 (3) CYP2D6 124030 {Codeine sensitivity}, 608902 (3) CYP2D6 124030 {Debrisoquine sensitivity}, 608902 (3) CYP2R1 608713 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3) CYP3A5 605325 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3) CYP4F22 611495 Ichthyosis, lamellar, 3, 604777 (3) CYP4V2 608614 Bietti crystalline corneoretinal dystrophy, 210370 (3) CYP7B1 603711 Bile acid synthesis defect, congenital, 3, 613812 (3) CYP7B1 603711 Spastic paraplegia-5A, 270800 (3) D2HGDH 609186 D-2-hydroxyglutaric aciduria, 600721 (3) DAG1 128239 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 613818 (3) DARC 613665 [Blood group, Duffy system], 110700 (3) DARC 613665 [White blood cell count QTL], 611862 (3) DARC 613665 {Malaria, vivax, protection against}, 611162 (3) DARS2 610956 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) DAZL 601486 {Spermatogenic failure, susceptibility to} (3) DBH 609312 Dopamine beta-hydroxylase deficiency, 223360 (3) DBH 609312 [Dopamine-beta-hydroxylase activity levels, plasma] (3) DBT 248610 Maple syrup urine disease, type II, 248600 (3) DCAF17 612515 Woodhouse-Sakati syndrome, 241080 (3) DCC 120470 Colorectal cancer (3) DCC 120470 Mirror movements, congenital, 157600 (3) DCLRE1C 605988 Omenn syndrome, 603554 (3) DCLRE1C 605988 Severe combined immunodeficiency, Athabascan type, 602450 (3) DCN 125255 Corneal dystrophy, congenital stromal, 610048 (3) DCTN1 601143 Neuropathy, distal hereditary motor, type VIIB, 607641 (3) DCTN1 601143 Perry syndrome, 168605 (3) DCTN1 601143 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) DCX 300121 Lissencephaly, X-linked, 300067 (3) DCX 300121 Subcortical laminal heteropia, X-linked, 300067 (3) DDB2 600811 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3) DDC 107930 Aromatic L-amino acid decarboxylase deficiency, 608643 (3) DDOST 602202 Congenital disorder of glycosylation, type Ir, 614507 (3) DDR2 191311 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3) DDX11 601150 Warsaw breakage syndrome, 613398 (3) DES 125660 Cardiomyopathy, dilated, 1I, 604765 (3) DES 125660 Myopathy, desmin-related, cardioskeletal, 601419 (3) DES 125660 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3) DFNA5 608798 Deafness, autosomal dominant 5, 600994 (3) DFNB31 607928 Deafness, autosomal recessive 31, 607084 (3) DFNB31 607928 Usher syndrome, type 2D, 611383 (3) DFNB59 610219 Deafness, autosomal recessive 59, 610220 (3) DGUOK 601465 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) DHCR24 606418 Desmosterolosis, 602398 (3) DHCR7 602858 Smith-Lemli-Opitz syndrome, 270400 (3) DHDDS 608172 Retinitis pigmentosa 59, 613861 (3) DHFR 126060 Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3) DHH 605423 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3) DHH 605423 46XY sex reversal 7, 233420 (3) DHODH 126064 Miller syndrome, 263750 (3) DIABLO 605219 Deafness, autosomal dominant 64, 614152 (3) DIAPH1 602121 Deafness, autosomal dominant 1, 124900 (3) DIAPH2 300108 Premature ovarian failure, 300511 (3) DICER1 606241 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3) DICER1 606241 Pleuropulmonary blastoma, 601200 (3) DIP2B 611379 Mental retardation, FRA12A type, 136630 (3) DIS3L2 614184 Perlman syndrome, 267000 (3) DISC1 605210 {Schizoaffective disorder, susceptibility to}, 181500 (3) DISC1 605210 {Schizophrenia, susceptibility to}, 604906 (3) DKC1 300126 Dyskeratosis congenita, X-linked, 305000 (3) DKC1 300126 Hoyeraal-Hreidarsson syndrome, 300240 (3) DLAT 608770 Pyruvate dehydrogenase E2 deficiency, 245348 (3) DLC1 604258 Colorectal cancer, somatic (3) DLD 238331 Leigh syndrome, 256000 (3) DLD 238331 Maple syrup urine disease, type III, 248600 (3) DLG3 300189 Mental retardation, X-linked 90, 300850 (3) DLL3 602768 Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) DLX3 600525 Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, 104510 (3) DLX3 600525 Trichodontoosseous syndrome, 190320 (3) DLX5 600028 Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3) DMD 300377 Becker muscular dystrophy, 300376 (3) DMD 300377 Cardiomyopathy, dilated, 3B, 302045 (3) DMD 300377 Duchenne muscular dystrophy, 310200 (3) DMGDH 605849 Dimethylglycine dehydrogenase deficiency, 605850 (3) DMP1 600980 Hypophosphatemic rickets, AR, 241520 (3) DMPK 605377 Myotonic dystrophy 1, 160900 (3) DNAAF1 613190 Ciliary dyskinesia, primary, 13, 613193 (3) DNAAF2 612517 Ciliary dyskinesia, primary, 10, 612518 (3) DNAH11 603339 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) DNAH5 603335 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) DNAI1 604366 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) DNAI2 605483 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) DNAJC19 608977 3-methylglutaconic aciduria, type V, 610198 (3) DNAJC5 611203 Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3) DNAL1 610062 Ciliary dyskinesia, primary, 16, 614017 (3) DNASE1 125505 {Systemic lupus erythematosus, susceptibility to}, 152700 (3) DNASE1L3 602244 Systemic lupus erythematosus 16, 614420 (3) DNM1L 603850 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3) DNM2 602378 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3) DNM2 602378 Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3) DNM2 602378 Myopathy, centronuclear, 160150 (3) DNMT1 126375 Neuropathy, hereditary sensory, type IE, 614116 (3) DNMT3B 602900 Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3) DOCK6 614194 Adams-Oliver syndrome 2, 614219 (3) DOCK8 611432 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) DOCK8 611432 Mental retardation, autosomal dominant 2, 614113 (3) DOK7 610285 Fetal akinesia deformation sequence, 208150 (3) DOK7 610285 Myasthenia, limb-girdle, familial, 254300 (3) DOLK 610746 Congenital disorder of glycosylation, type Im, 610768 (3) DPAGT1 191350 Congenital disorder of glycosylation, type Ij, 608093 (3) DPM1 603503 Congenital disorder of glycosylation, type Ie, 608799 (3) DPM3 605951 Congenital disorder of glycosylation, type Io, 612937 (3) DPP6 126141 Ventricular fibrillation, paroxysmal familial, 2, 612956 (3) DPY19L2 613893 Spermatogenic failure 9, 613958 (3) DPYD 612779 5-fluorouracil toxicity, 274270 (3) DPYD 612779 Dihydropyrimidine dehydrogenase deficiency, 274270 (3) DPYS 613326 Dihydropyrimidinuria, 222748 (3) DRD2 126450 Dystonia, myoclonic, 159900 (3) DRD3 126451 {Essential tremor, susceptibility to}, 190300 (3) DRD3 126451 {Schizophrenia, susceptibility to}, 181500 (3) DRD4 126452 Autonomic nervous system dysfunction (3) DRD4 126452 {Attention deficit-hyperactivity disorder}, 143465 (3) DRD5 126453 Dystonia, primary cervical (3) DRD5 126453 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3) DRD5 126453 {Blepharospasm, primary benign}, 606798 (3) DSC2 125645 Arrhythmogenic right ventricular dysplasia 11, 610476 (3) DSC3 600271 Hypotrichosis and recurrent skin vesicles, 613102 (3) DSG1 125670 Keratosis palmoplantaris striata I, 148700 (3) DSG2 125671 Arrhythmogenic right ventricular dysplasia 10, 610193 (3) DSG2 125671 Cardiomyopathy, dilated, 1BB, 612877 (3) DSG4 607892 Hypotrichosis, localized, autosomal recessive, 607903 (3) DSP 125647 Arrhythmogenic right ventricular dysplasia 8, 607450 (3) DSP 125647 Dilated cardiomyopathy with woolly hair and keratoderma, 605676 (3) DSP 125647 Epidermolysis bullosa, lethal acantholytic, 609638 (3) DSP 125647 Keratosis palmoplantaris striata II, 612908 (3) DSP 125647 Skin fragility-woolly hair syndrome, 607655 (3) DSPP 125485 Deafness, autosomal dominant 36, with dentinogenesis, 605594 (3) DSPP 125485 Dentin dysplasia, type II, 125420 (3) DSPP 125485 Dentinogenesis imperfecta, Shields type II, 125490 (3) DSPP 125485 Dentinogenesis imperfecta, Shields type III, 125500 (3) DTNA 601239 Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3) DTNBP1 607145 Hermansky-Pudlak syndrome 7, 614076 (3) DUOX2 606759 Thryoid dyshormonogenesis 6, 607200 (3) DUOXA2 612772 Thyroid dyshormonogenesis 5, 274900 (3) DYM 607461 Dyggve-Melchior-Clausen disease, 223800 (3) DYM 607461 Smith-McCort dysplasia, 607326 (3) DYNC1H1 600112 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3) DYNC2H1 603297 Asphyxiating thoracic dystrophy 3, 613091 (3) DYNC2H1 603297 Short rib-polydactyly syndrome, type II, digenic, 263520 (3) DYNC2H1 603297 Short rib-polydactyly syndrome, type III, 263510 (3) DYRK1A 600855 Mental retardation, autosomal dominant 7, 614104 (3) DYSF 603009 Miyoshi muscular dystrophy 1, 254130 (3) DYSF 603009 Muscular dystrophy, limb-girdle, type 2B, 253601 (3) DYSF 603009 Myopathy, distal, with anterior tibial onset, 606768 (3) DYX1C1 608706 {Dyslexia, susceptibility to, 1}, 127700 (3) EBP 300205 Chondrodysplasia punctata, X-linked dominant, 302960 (3) ECE1 600423 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3) ECE1 600423 {Hypertension, essential, susceptibility to}, 145500 (3) ECM1 602201 Lipoid proteinosis, 247100 (3) EDA 300451 Ectodermal dysplasia, anhidrotic, X-linked, 305100 (3) EDA 300451 Tooth agenesis, selective, X-linked 1, 313500 (3) EDAR 604095 Ectodermal dysplasia, hypohidrotic, autosomal dominant, 129490 (3) EDAR 604095 Ectodermal dysplasia, hypohidrotic, autosomal recessive, 224900 (3) EDAR 604095 [Hair morphology 1, hair thickness], 612630 (3) EDARADD 606603 Ectodermal dysplasia, anhidrotic, autosomal dominant, 129490 (3) EDARADD 606603 Ectodermal dysplasia, anhidrotic, autosomal recessive, 224900 (3) EDN1 131240 [High density lipoprotein cholesterol level QTL 7] (3) EDN3 131242 Central hypoventilation syndrome, congenital, 209880 (3) EDN3 131242 Waardenburg syndrome, type 4B, 613265 (3) EDN3 131242 {Hirschsprung disease, susceptibility to, 4}, 613712 (3) EDNRA 131243 Migraine, resistance to, 157300 (3) EDNRB 131244 ABCD syndrome, 600501 (3) EDNRB 131244 Waardenburg syndrome, type 4A, 277580 (3) EDNRB 131244 {Hirschsprung disease, susceptibility to, 2}, 600155 (3) EFEMP1 601548 Doyne honeycomb degeneration of retina, 126600 (3) EFEMP2 604633 Cutis laxa, autosomal recessive, type IB, 614437 (3) EFHC1 608815 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3) EFHC1 608815 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3) EFNB1 300035 Craniofrontonasal dysplasia, 304110 (3) EFTUD2 603892 Mandibulofacial dysostosis with microcephaly, 610536 (3) EGF 131530 Hypomagnesemia 4, renal, 611718 (3) EGFR 131550 Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) EGFR 131550 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3) EGFR 131550 {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) EGLN1 606425 Erythrocytosis, familial, 3, 609820 (3) EGR2 129010 Charcot-Marie-Tooth disease, type 1D, 607678 (3) EGR2 129010 Dejerine-Sottas disease, 145900 (3) EGR2 129010 Neuropathy, congenital hypomyelinating, 1, 605253 (3) EHBP1 609922 {Prostate cancer, hereditary, 12}, 611868 (3) EHMT1 607001 Kleefstra syndrome, 610253 (3) EIF2AK3 604032 Wolcott-Rallison syndrome, 226980 (3) EIF2B1 606686 Leukoencephalopathy with vanishing white matter, 603896 (3) EIF2B2 606454 Leukoencephalopathy with vanishing white matter, 603896 (3) EIF2B2 606454 Ovarioleukodystrophy, 603896 (3) EIF2B3 606273 Leukoencephalopathy with vanishing white matter, 603896 (3) EIF2B4 606687 Leukoencephaly with vanishing white matter, 603896 (3) EIF2B4 606687 Ovarioleukodystrophy, 603896 (3) EIF2B5 603945 Leukoencephalopathy with vanishing white matter, 603896 (3) EIF2B5 603945 Ovarioleukodystrophy, 603896 (3) EIF4G1 600495 Parkinson disease 18, 614251 (3) ELAC2 605367 {Prostate cancer, susceptibility to}, 176807 (3) ELANE 130130 Neutropenia, cyclic, 162800 (3) ELANE 130130 Neutropenia, severe congenital 1, autosomal dominant, 202700 (3) ELN 130160 Cutis laxa, AD, 123700 (3) ELN 130160 Supravalvar aortic stenosis, 185500 (3) ELOVL4 605512 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3) ELOVL4 605512 Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 (3) ELOVL4 605512 Stargardt disease 3, 600110 (3) EMD 300384 Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) EMG1 611531 Bowen-Conradi syndrome, 211180 (3) EMX2 600035 Schizencephaly, 269160 (3) EN2 131310 {Autism susceptibility 10}, 611016 (3) ENAM 606585 Amelogenesis imperfecta, type IB, 104500 (3) ENAM 606585 Amelogenesis imperfecta, type IC, 204650 (3) ENG 131195 Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3) ENO3 131370 Glycogen storage disease XIII, 612932 (3) ENPP1 173335 Arterial calcification, generalized, of infancy, 1, 208000 (3) ENPP1 173335 Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) ENPP1 173335 Ossification of posterior longitudinal ligament of spine, 602475 (3) ENPP1 173335 {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3) ENPP1 173335 {Obesity, susceptibility to}, 601665 (3) EP300 602700 Colorectal cancer, 114500 (3) EP300 602700 Rubinstein-Taybi syndrome 2, 613684 (3) EPAS1 603349 Erythrocytosis, familial, 4, 611783 (3) EPB41 130500 Elliptocytosis-1, 611804 (3) EPB41L1 602879 Mental retardation, autosomal dominant 11, 614257 (3) EPB42 177070 Spherocytosis, hereditary, type 5, 612690 (3) EPCAM 185535 Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) EPCAM 185535 Diarrhea 5, with tufting enteropathy, congenital, 613217 (3) EPHA2 176946 Cataract, age-related cortical, 2, 613020 (3) EPHA2 176946 Cataract, posterior polar, 1, 116600 (3) EPHB2 600997 Prostate cancer, progression and metastasis of, 603688 (3) EPHX1 132810 Hypercholanemia, familial, 607748 (3) EPHX1 132810 {Preeclampsia, susceptibility to}, 189800 (3) EPHX2 132811 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3) EPM2A 607566 Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) EPO 133170 {Microvascular complications of diabetes 2}, 612623 (3) EPOR 133171 [Erythrocytosis, familial, 1], 133100 (3) EPX 131399 Eosinophil peroxidase deficiency, 261500 (3) ERBB2 164870 Adenocarcinoma of lung, somatic, 211980 (3) ERBB2 164870 Gastric cancer, somatic, 137215 (3) ERBB2 164870 Glioblastoma, somatic, 137800 (3) ERBB2 164870 Ovarian cancer, somatic, (3) ERBB3 190151 Lethal congenital contractural syndrome 2, 607598 (3) ERCC1 126380 Cerebrooculofacioskeletal syndrome 4, 610758 (3) ERCC2 126340 Cerebrooculofacioskeletal syndrome 2, 610756 (3) ERCC2 126340 Trichothiodystrophy, 601675 (3) ERCC2 126340 Xeroderma pigmentosum, group D, 278730 (3) ERCC3 133510 Trichothiodystrophy, 601675 (3) ERCC3 133510 Xeroderma pigmentosum, group B, 610651 (3) ERCC4 133520 XFE progeroid syndrome, 610965 (3) ERCC4 133520 Xeroderma pigmentosum, group F, 278760 (3) ERCC5 133530 Cerebrooculofacioskeletal syndrome 3 (3) ERCC5 133530 Xeroderma pigmentosum, group G, 278780 (3) ERCC6 609413 Cerebrooculofacioskeletal syndrome 1, 214150 (3) ERCC6 609413 Cockayne syndrome, type B, 133540 (3) ERCC6 609413 De Sanctis-Cacchione syndrome, 278800 (3) ERCC6 609413 UV-sensitive syndrome, 600630 (3) ERCC6 609413 {Lung cancer, susceptibility to}, 211980 (3) ERCC6 609413 {Macular degeneration, age-related, susceptibility to 5}, 613761 (3) ERCC8 609412 Cockayne syndrome, type A, 216400 (3) ERLIN2 611605 Spastic paraplegia-18, 611225 (3) ERMAP 609017 [Blood group, Radin], 111620 (3) ERMAP 609017 [Blood group, Scianna system], 111750 (3) ESCO2 609353 Roberts syndrome, 268300 (3) ESCO2 609353 SC phocomelia syndrome, 269000 (3) ESPN 606351 Deafness, autosomal recessive 36, 609006 (3) ESPN 606351 Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) ESR1 133430 Estrogen resistance (3) ESR1 133430 {Atherosclerosis, susceptibility to} (3) ESR1 133430 {HDL response to hormone replacement, augmented} (3) ESR1 133430 {Migraine, susceptibility to}, 157300 (3) ESR1 133430 {Myocardial infarction, susceptibility to}, 608446 (3) ESRRB 602167 Deafness, autosomal recessive 35, 608565 (3) ETFA 608053 Glutaric acidemia IIA, 231680 (3) ETFB 130410 Glutaric acidemia IIB, 231680 (3) ETFDH 231675 Glutaric acidemia IIC, 231680 (3) ETHE1 608451 Ethylmalonic encephalopathy, 602473 (3) ETV6 600618 Leukemia, acute myeloid, somatic, 601626 (3) EVC 604831 Ellis-van Creveld syndrome, 225500 (3) EVC 604831 Weyers acrodental dysostosis, 193530 (3) EVC2 607261 Ellis-van Creveld syndrome, 225500 (3) EWSR1 133450 Ewing sarcoma, 612219 (3) EWSR1 133450 Neuroepithelioma, 612219 (3) EXT1 608177 Chondrosarcoma, 215300 (3) EXT1 608177 Exostoses, multiple, type 1, 133700 (3) EXT2 608210 Exostoses, multiple, type 2, 133701 (3) EYA1 601653 Anterior segment anomalies and cataract (3) EYA1 601653 Branchiootic syndrome (3) EYA1 601653 Branchiootorenal syndrome with cataract, 113650 (3) EYA1 601653 Branchiootorenal syndrome, 113650 (3) EYA1 601653 Otofaciocervical syndrome, 166780 (3) EYA4 603550 Cardiomyopathy, dilated, 1J, 605362 (3) EYA4 603550 Deafness, autosomal dominant 10, 601316 (3) EYS 612424 Retinitis pigmentosa 25, 602772 (3) EZH2 601573 Weaver syndrome 2, 614421 (3) F10 613872 Factor X deficiency, 227600 (3) F11 264900 Factor XI deficiency, autosomal dominant, 612416 (3) F11 264900 Factor XI deficiency, autosomal recessive, 612416 (3) F12 610619 Angioedema, hereditary, type III, 610618 (3) F12 610619 Factor XII deficiency, 234000 (3) F13A1 134570 Factor XIIIA deficiency, 613225 (3) F13A1 134570 {Myocardial infarction, protection against}, 608446 (3) F13A1 134570 {Venous thrombosis, protection against}, 188050 (3) F13B 134580 Factor XIIIB deficiency, 613235 (3) FA2H 611026 Spastic paraplegia 35, autosomal recessive, 612319 (3) FAAH 602935 {Drug addiction, susceptibility to} (3) FADD 602457 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malforamtions, 613759 (3) FAH 613871 Tyrosinemia, type I, 276700 (3) FAM123B 300647 Osteopathia striata with cranial sclerosis, 300373 (3) FAM126A 610531 Leukodystrophy, hypomyelinating, 5, 610532 (3) FAM134B 613114 Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) FAM161A 613596 Retinitis pigmentosa 28, 606068 (3) FAM20A 611062 Amelogenesis imperfecta and gingival fibromatosis syndrome, 614253 (3) FAM20C 611061 Raine syndrome, 259775 (3) FAM58A 300708 STAR syndrome, 300707 (3) FAM83H 611927 Amelogenesis imperfecta, type 3, 130900 (3) FANCA 607139 Fanconi anemia, complementation group A, 227650 (3) FANCB 300515 Fanconi anemia, complementation group B, 300514 (3) FANCC 613899 Fanconi anemia, complementation group C, 227645 (3) FANCD2 613984 Fanconi anemia, complementation group D2, 227646 (3) FANCE 613976 Fanconi anemia, complementation group E, 600901 (3) FANCF 613897 Fanconi anemia, complementation group F, 603467 (3) FANCG 602956 Fanconi anemia, complementation group G, 614082 (3) FANCI 611360 Fanconi anemia, complementation group I, 609053 (3) FANCL 608111 Fanconi anemia, complementation group L, 614083 (3) FANCM 609644 Fanconi anemia, complementation group M, 614087 (3) FAS 134637 Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) FAS 134637 Squamous cell carcinoma, burn scar-related, somatic (3) FAS 134637 {Autoimmune lymphoproliferative syndrome}, 601859 (3) FASLG 134638 {Systemic lupus erythematosus, susceptibility}, 152700 (3) FASTKD2 612322 Mitochondrial complex IV deficiency, 220110 (3) FBLN1 135820 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (3) FBLN5 604580 Cutis laxa, autosomal dominant 2, 614434 (3) FBLN5 604580 Cutis laxa, autosomal recessive, type IA, 219100 (3) FBLN5 604580 Macular degeneration, age-related, 3, 608895 (3) FBN1 134797 Acromicric dysplasia, 102370 (3) FBN1 134797 Aortic aneurysm, ascending, and dissection (3) FBN1 134797 Ectopia lentis, familial, 129600 (3) FBN1 134797 Geleophysic dysplasia 2, 614185 (3) FBN1 134797 MASS syndrome, 604308 (3) FBN1 134797 Marfan syndrome, 154700 (3) FBN1 134797 Shprintzen-Goldberg syndrome, 182212 (3) FBN1 134797 Stiff skin syndrome, 184900 (3) FBN1 134797 Weill-Marchesani syndrome 2, dominant, 608328 (3) FBN2 612570 Contractural arachnodactyly, congenital, 121050 (3) FBP1 611570 Fructose-1,6-bidphosphatase deficiency, 229700 (3) FBXO33 609103 [Bone mineral density QTL 12], 612560 (3) FBXO7 605648 Parkinson disease 15, autosomal recessive, 260300 (3) FCGR1A 146760 [IgG receptor I, phagocytic, familial deficiency of] (3) FCGR2A 146790 {Lupus nephritis, susceptibility to} (3) FCGR2B 604590 {Malaria, resistance to}, 611162 (3) FCGR2B 604590 {Systemic lupus erythematosus, susceptibility to}, 152700 (3) FCGR3A 146740 Neutropenia, alloimmune neonatal (3) FCGR3A 146740 {Viral infections, recurrent} (3) FCN3 604973 Immunodeficiency due to ficolin 3 deficiency, 613860 (3) FECH 612386 Protoporphyria, erythropoietic, autosomal recessive, 177000 (3) FERMT1 607900 Kindler syndrome, 173650 (3) FERMT3 607901 Leukocyte adhesion deficiency, type III, 612840 (3) FGA 134820 Afibrinogenemia, congenital, 202400 (3) FGA 134820 Amyloidosis, hereditary renal, 105200 (3) FGA 134820 Dysfibrinogenemia, alpha type, causing bleeding diathesis (3) FGA 134820 Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3) FGB 134830 Afibrinogenemia, congenital, 202400 (3) FGB 134830 Dysfibrinogenemia, beta type (3) FGB 134830 Thrombophilia, dysfibrinogenemic (3) FGD1 300546 Aarskog-Scott syndrome, 305400 (3) FGD1 300546 Mental retardation, X-linked syndromic 16, 305400 (3) FGD4 611104 Charcot-Marie-Tooth disease, type 4H, 609311 (3) FGF10 602115 Aplasia of lacrimal and salivary glands, 180920 (3) FGF10 602115 LADD syndrome, 149730 (3) FGF14 601515 Spinocerebellar ataxia 27, 609307 (3) FGF23 605380 Hypophosphatemic rickets, autosomal dominant, 193100 (3) FGF23 605380 Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) FGF3 164950 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3) FGF8 600483 Kallmann syndrome 6, 612702 (3) FGF9 600921 Multiple synostoses syndrome 3, 612961 (3) FGFR1 136350 Hypogonadotropic hypogonadism, 146110 (3) FGFR1 136350 Jackson-Weiss syndrome, 123150 (3) FGFR1 136350 Kallmann syndrome 2, 147950 (3) FGFR1 136350 Osteoglophonic dysplasia, 166250 (3) FGFR1 136350 Pfeiffer syndrome, 101600 (3) FGFR1 136350 Trigonocephaly 1, 190440 (3) FGFR2 176943 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) FGFR2 176943 Apert syndrome, 101200 (3) FGFR2 176943 Beare-Stevenson cutis gyrata syndrome, 123790 (3) FGFR2 176943 Craniofacial-skeletal-dermatologic dysplasia (3) FGFR2 176943 Craniosynostosis, nonspecific (3) FGFR2 176943 Crouzon syndrome, 123500 (3) FGFR2 176943 Gastric cancer, somatic, 137215 (3) FGFR2 176943 Jackson-Weiss syndrome, 123150 (3) FGFR2 176943 LADD syndrome, 149730 (3) FGFR2 176943 Pfeiffer syndrome, 101600 (3) FGFR2 176943 Saethre-Chotzen syndrome, 101400 (3) FGFR2 176943 Scaphocephaly and Axenfeld-Rieger anomaly (3) FGFR2 176943 Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3) FGFR3 134934 Achondroplasia, 100800 (3) FGFR3 134934 Bladder cancer, somatic, 109800 (3) FGFR3 134934 CATSHL syndrome, 610474 (3) FGFR3 134934 Cervical cancer, somatic, 603956 (3) FGFR3 134934 Colorectal cancer, somatic, 114500 (3) FGFR3 134934 Crouzon syndrome with acanthosis nigricans, 612247 (3) FGFR3 134934 Hypochondroplasia, 146000 (3) FGFR3 134934 LADD syndrome, 149730 (3) FGFR3 134934 Muenke syndrome, 602849 (3) FGFR3 134934 Nevus, keratinocytic, nonepidermolytic, 162900 (3) FGFR3 134934 Spermatocytic seminoma, somatic, 273300 (3) FGFR3 134934 Thanatophoric dysplasia, type I, 187600 (3) FGFR3 134934 Thanatophoric dysplasia, type II, 187601 (3) FGFR4 134935 {Cancer progression/metastasis} (3) FGG 134850 Dysfibrinogenemia, gamma type (3) FGG 134850 Hypofibrinogenemia, gamma type (3) FGG 134850 Thrombophilia, dysfibrinogenemic (3) FHL1 300163 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) FHL1 300163 Myopathy, X-linked, with postural muscle atrophy, 300696 (3) FHL1 300163 Myopathy, reducing body, X-linked, childhood-onset, 300718 (3) FHL1 300163 Myopathy, reducing body, X-linked, severe early-onset, 300717 (3) FHL1 300163 Scapuloperoneal myopathy, X-linked dominant, 300695 (3) FIG4 609390 Amyotrophic lateral sclerosis 11, 612577 (3) FIG4 609390 Charcot-Marie-Tooth disease, type 4J, 611228 (3) FIGLA 608697 Premature ovarian failure 6, 612310 (3) FKBP10 607063 Osteogenesis imperfecta, type XI, 610968 (3) FKBP14 614505 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) FKBP5 602623 {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3) FKRP 606596 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) FKRP 606596 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3) FKRP 606596 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3) FKTN 607440 Cardiomyopathy, dilated, 1X, 611615 (3) FKTN 607440 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) FKTN 607440 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3) FKTN 607440 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3) FLCN 607273 Birt-Hogg-Dube syndrome, 135150 (3) FLCN 607273 Colorectal cancer, somatic, 114500 (3) FLCN 607273 Pneumothorax, primary spontaneous, 173600 (3) FLCN 607273 Renal carcinoma, chromophobe, somatic, 144700 (3) FLG 135940 Ichthyosis vulgaris, 146700 (3) FLG 135940 {Dermatitis, atopic, susceptibility to, 2}, 605803 (3) FLNA 300017 Cardiac valvular dysplasia, X-linked, 314400 (3) FLNA 300017 FG syndrome 2, 300321 (3) FLNA 300017 Frontometaphyseal dysplasia, 305620 (3) FLNA 300017 Heterotopia, periventricular, 300049 (3) FLNA 300017 Heterotopia, periventricular, ED variant, 300537 (3) FLNA 300017 Intestinal pseudoobstruction, neuronal, 300048 (3) FLNA 300017 Melnick-Needles syndrome, 309350 (3) FLNA 300017 Otopalatodigital syndrome, type I, 311300 (3) FLNA 300017 Otopalatodigital syndrome, type II, 304120 (3) FLNA 300017 Terminal osseous dysplasia, 300244 (3) FLNB 603381 Atelosteogenesis, type I, 108720 (3) FLNB 603381 Atelosteogenesis, type III, 108721 (3) FLNB 603381 Boomerang dysplasia, 112310 (3) FLNB 603381 Larsen syndrome, 150250 (3) FLNB 603381 Spondylocarpotarsal synostosis syndrome, 272460 (3) FLNC 102565 Myopathy, distal, 4, 614065 (3) FLNC 102565 Myopathy, myofibrillar, 5, 609524 (3) FLT3 136351 Leukemia, acute lymphoblastic (3) FLT3 136351 Leukemia, acute myeloid, 601626 (3) FLT3 136351 Leukemia, acute myeloid, reduced survival in (3) FLT4 136352 Hemangioma, capillary infantile, somatic, 602089 (3) FLT4 136352 Lymphedema, hereditary I, 153100 (3) FLVCR1 609144 Ataxia, posterior column, with retinitis pigmentosa, 609033 (3) FLVCR2 610865 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3) FMO3 136132 Trimethylaminuria, 602079 (3) FMR1 309550 Fragile X syndrome, 300624 (3) FMR1 309550 Fragile X tremor/ataxia syndrome, 300623 (3) FMR1 309550 Premature ovarian failure 1, 311360 (3) FN1 135600 Glomerulopathy with fibronectin deposits 2, 601894 (3) FOLR1 136430 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3) FOXC1 601090 Axenfeld-Rieger syndrome, type 3, 602482 (3) FOXC1 601090 Iridogoniodysgenesis, type 1, 601631 (3) FOXC1 601090 Iris hypoplasia and glaucoma, 601631 (3) FOXC1 601090 Rieger or Axenfeld anomalies, 602482 (3) FOXC2 602402 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3) FOXC2 602402 Lymphedema-distichiasis syndrome, 153400 (3) FOXD3 611539 {Autoimmune disease, susceptibility to, 1}, 607836 (3) FOXE1 602617 Bamforth-Lazarus syndrome, 241850 (3) FOXE3 601094 Anterior segment mesenchymal dysgenesis, 107250 (3) FOXE3 601094 Aphakia, congenital primary, 610256 (3) FOXF1 601089 Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3) FOXG1 164874 Rett syndrome, congenital variant, 613454 (3) FOXI1 601093 Enlarged vestibular aqueduct, 600791 (3) FOXL2 605597 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3) FOXL2 605597 Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3) FOXL2 605597 Premature ovarian failure 3, 608996 (3) FOXN1 600838 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) FOXO1 136533 Rhabdomyosarcoma, alveolar, 268220 (3) FOXP1 605515 Mental retardation with language impairment and autistic features, 613670 (3) FOXP2 605317 Speech-language disorder-1, 602081 (3) FOXP3 300292 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) FOXP3 300292 {Diabetes mellitus, type I, susceptibility to}, 222100 (3) FOXRED1 613622 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) FOXRED1 613622 Mitochondrial complex I deficiency, 252010 (3) FRAS1 607830 Fraser syndrome, 219000 (3) FREM1 608944 Bifid nose with or without anorectal and renal anomalies, 608980 (3) FREM1 608944 Manitoba oculotrichoanal syndrome, 248450 (3) FREM1 608944 Trigonocephaly 2, 614485 (3) FREM2 608945 Fraser syndrome, 219000 (3) FRMD7 300628 Nystagmus 1, congenital, X-linked, 310700 (3) FRMD7 300628 Nystagmus, infantile periodic alternating, X-linked, 310700 (3) FRZB 605083 {Osteoarthritis susceptibility 1}, 165720 (3) FSCN2 607643 Retinitis pigmentosa 30, 607921 (3) FSHB 136530 Follicle-stimulating hormone deficiency, isolated, 229070 (3) FSHR 136435 Ovarian dysgenesis 1, 233300 (3) FSHR 136435 Ovarian hyperstimulation syndrome, 608115 (3) FSHR 136435 Ovarian response to FSH stimulation, 276400 (3) FTCD 606806 Glutamate formiminotransferase deficiency, 229100 (3) FTH1 134770 Iron overload, autosomal dominant (3) FTL 134790 Hyperferritinemia-cataract syndrome, 600886 (3) FTL 134790 Neurodegeneration with brain iron accumulation 3, 606159 (3) FTO 610966 Growth retardation, developmental delay, coarse facies, and early death, 612938 (3) FTSJ1 300499 Mental retardation, X-linked 9, 309549 (3) FUCA1 612280 Fucosidosis, 230000 (3) FUS 137070 Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, 608030 (3) FUT1 211100 [Bombay phenotype] (3) FUT2 182100 [Bombay phenotype] (3) FUT2 182100 {Norwalk virus infection, resistance to} (3) FUT2 182100 {Vitamin B12 plasma level QTL1}, 612542 (3) FUT3 111100 [Blood group, Lewis] (3) FUT6 136836 Fucosyltransferase 6 deficiency, 613852 (3) FXN 606829 Friedreich ataxia with retained reflexes, 229300 (3) FXN 606829 Friedreich ataxia, 229300 (3) FXYD2 601814 Hypomagnesemia-2, renal, 154020 (3) FYCO1 607182 Cataract, autosomal recessive congenital 2, 610019 (3) FZD4 604579 Exudative vitreoretinopathy, 133780 (3) FZD4 604579 Retinopathy of prematurity, 133780 (3) FZD6 603409 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3) G6PC 613742 Glycogen storage disease Ia, 232200 (3) G6PC3 611045 Darsun syndrome, 612541 (3) G6PC3 611045 Neutropenia, severe congenital 4, autosomal recessive, 612541 (3) G6PD 305900 Favism (3) G6PD 305900 G6PD deficiency (3) G6PD 305900 Hemolytic anemia due to G6PD deficiency (3) GAA 606800 Glycogen storage disease II, 232300 (3) GABBR2 607340 {Nicotine dependence, protection against}, 188890 (3) GABBR2 607340 {Nicotine dependence, susceptibility to}, 188890 (3) GABRA1 137160 {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3) GABRA1 137160 {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3) GABRA2 137140 {Alcohol dependence, susceptibility to}, 103780 (3) GABRB3 137192 Insomnia (3) GABRB3 137192 {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3) GABRD 137163 {Epilepsy, idiopathic generalized, 10}, 613060 (3) GABRD 137163 {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3) GABRD 137163 {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, 613060 (3) GABRG2 137164 Dravet syndrome, 607208 (3) GABRG2 137164 Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3) GABRG2 137164 Febrile seizures, familial, 8, 611277 (3) GABRG2 137164 {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3) GAD1 605363 Cerebral palsy, spastic quadriplegic, 1, 603513 (3) GALC 606890 Krabbe disease, 245200 (3) GALE 606953 Galactose epimerase deficiency, 230350 (3) GALK1 604313 Galactokinase deficiency with cataracts, 230200 (3) GALNS 612222 Mucopolysaccharidosis IVA, 253000 (3) GALNT12 610290 {Colorectal cancer, susceptibility to, 1}, 608812 (3) GALNT3 601756 Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) GALT 606999 Galactosemia, 230400 (3) GAMT 601240 GAMT deficiency, 612736 (3) GAN 605379 Giant axonal neuropathy-1, 256850 (3) GARS 600287 Charcot-Marie-Tooth disease, type 2D, 601472 (3) GARS 600287 Neuropathy, distal hereditary motor, type V, 600794 (3) GATA1 305371 Anemia, X-linked, without thrombocytopenia, 300835 (3) GATA1 305371 Dyserythropoietic anemia with thrombocytopenia, 300367 (3) GATA1 305371 Leukemia, megakaryoblastic, of Down syndrome, 190685 (3) GATA1 305371 Leukemia, megakaryoblastic, with or without Down syndrome, 190685 (3) GATA1 305371 Macrothrombocytopenia, 300367 (3) GATA1 305371 Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3) GATA2 137295 Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 (3) GATA2 137295 Emberger syndrome, 614038 (3) GATA2 137295 {Leukemia, acute myeloid, susceptibility to}, 601626 (3) GATA2 137295 {Myelodysplastic syndrome, susceptibility to}, 614286 (3) GATA3 131320 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3) GATA4 600576 Atrial septal defect 2, 607941 (3) GATA4 600576 Atrioventricular septal defect 4, 614430 (3) GATA4 600576 Ventricular septal defect 1, 614429 (3) GATA6 601656 Atrial septal defect 9, 614475 (3) GATA6 601656 Atrioventricular septal defect 5, 614474 (3) GATA6 601656 Pancreatic agenesis and congenital heart defects, 600001 (3) GATA6 601656 Persistent truncus arteriosus, 217095 (3) GATA6 601656 Tetralogy of Fallot, 187500 (3) GATM 602360 AGAT deficiency, 612718 (3) GBA 606463 Gaucher disease, perinatal lethal, 608013 (3) GBA 606463 Gaucher disease, type I, 230800(3) GBA 606463 Gaucher disease, type II, 230900 (3) GBA 606463 Gaucher disease, type III, 231000 (3) GBA 606463 Gaucher disease, type IIIC, 231005 (3) GBA 606463 {Lewy body dementia, susceptibility to}, 127750 (3) GBA 606463 {Parkinson disease, late-onset, susceptibility to}, 168600 (3) GBE1 607839 Glycogen storage disease IV, 232500 (3) GCDH 608801 Glutaricaciduria, type I, 231670 (3) GCGR 138033 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) GCH1 600225 Dystonia, DOPA-responsive, with or without hyperphenylalainemia, 128230 (3) GCH1 600225 Hyperpehnylalaninemia, BH4-deficient, B, 233910 (3) GCK 138079 Diabetes mellitus, gestational, 125851 (3) GCK 138079 Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3) GCK 138079 Diabetes mellitus, permanent neonatal, 606176 (3) GCK 138079 Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3) GCK 138079 MODY, type II, 125851 (3) GCKR 600842 [Fasting plasma glucose level QTL 5], 613463 (3) GCLC 606857 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3) GCLC 606857 {Myocardial infarction, susceptibility to}, 608446 (3) GCLM 601176 {Myocardial infarction, susceptibility to}, 608446 (3) GCM2 603716 Hypoparathyroidism, familial isolated, 146200 (3) GCNT2 600429 Adult i phenotype with congenital cataract, 110800 (3) GCNT2 600429 Adult i phenotype without cataract, 110800 (3) GCNT2 600429 [Blood group, Ii], 110800 (3) GCSH 238330 Glycine encephalopathy, 605899 (3) GDAP1 606598 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3) GDAP1 606598 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3) GDAP1 606598 Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) GDAP1 606598 Charcot-Marie-Tooth disease, type 4A, 214400 (3) GDF1 602880 Double-outlet right ventricle, 217095 (3) GDF1 602880 Tetralogy of Fallot, 187500 (3) GDF1 602880 Transposition of great arteries, dextro-looped 3, 613854 (3) GDF3 606522 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3) GDF3 606522 Microphthalmia with coloboma 6, 613703 (3) GDF3 606522 Microphthalmia, isolated 7, 613704 (3) GDF5 601146 Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3) GDF5 601146 Brachydactyly, type A2, 112600 (3) GDF5 601146 Brachydactyly, type C, 113100 (3) GDF5 601146 Chondrodysplasia, Grebe type, 200700 (3) GDF5 601146 Fibular hypoplasia and complex brachydactyly, 228900 (3) GDF5 601146 Multiple synostoses syndrome 2, 610017 (3) GDF5 601146 Symphalangism, proximal, 185800 (3) GDF5 601146 {Osteoarthritis}, 612400 (3) GDF6 601147 Klippel-Feil syndrome 1, autosomal dominant, 118100 (3) GDF6 601147 Microphthalmia with coloboma 6, digenic, 613703 (3) GDF6 601147 Microphthalmia, isolated 4, 613094 (3) GDI1 300104 Mental retardation, X-linked 41, 300849 (3) GDNF 600837 Central hypoventilation syndrome, 209880 (3) GDNF 600837 {Hirschsprung disease, susceptibility to, 3}, 613711 (3) GDNF 600837 {Pheochromocytoma, modifier of}, 171300 (3) GFAP 137780 Alexander disease, 203450 (3) GFER 600924 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) GFI1 600871 Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3) GFI1 600871 Neutropenia, severe congenital 2, autosomal dominant, 613107 (3) GFM1 606639 Combined oxidative phosphorylation deficiency 1, 609060 (3) GGCX 137167 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) GGCX 137167 Vitamin K-dependent coagulation defect, 277450 (3) GH1 139250 Growth hormone deficiency, isolated, type IA, 262400 (3) GH1 139250 Growth hormone deficiency, isolated, type IB, 612781 (3) GH1 139250 Growth hormone deficiency, isolated, type II, 173100 (3) GH1 139250 Kowarski syndrome, 262650 (3) GHR 600946 Increased responsiveness to growth hormone (3) GHR 600946 Laron dwarfism, 262500 (3) GHR 600946 Short stature, 604271 (3) GHR 600946 {Hypercholesterolemia, familial, modification of}, 143890 (3) GHRHR 139191 Growth hormone deficiency, isolated, type IB, 612781 (3) GHRL 605353 {Obesity, susceptibility to}, 601665 (3) GHSR 601898 Short stature, 604271 (3) GIF 609342 Intrinsic factor deficiency, 261000 (3) GIGYF2 612003 Parkinson disease 11, 607688 (3) GIPC3 608792 Deafness, autosomal recessive 15, 601869 (3) GJA1 121014 Atrioventricular septal defect 3, 600309 (3) GJA1 121014 Hallermann-Streiff syndrome, 234100 (3) GJA1 121014 Hypoplastic left heart syndrome 1, 241550 (3) GJA1 121014 Oculodentodigital dysplasia, 164200 (3) GJA1 121014 Oculodentodigital dysplasia, autosomal recessive, 257850 (3) GJA1 121014 Syndactyly, type III, 186100 (3) GJA3 121015 Cataract, zonular pulverulent-3, 601885 (3) GJA5 121013 Atrial fibrillation, familial, 11, 614049 (3) GJA8 600897 Cataract, nuclear progressive (3) GJA8 600897 Cataract, nuclear pulverulent (3) GJA8 600897 Cataract, zonular pulverulent-1, 116200 (3) GJA8 600897 Cataract-microcornea syndrome, 116150 (3) GJB1 304040 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3) GJB2 121011 Bart-Pumphrey syndrome, 149200 (3) GJB2 121011 Deafness, autosomal dominant 3A, 601544 (3) GJB2 121011 Deafness, autosomal recessive 1A, 220290 (3) GJB2 121011 Hystrix-like ichthyosis with deafness, 602540 (3) GJB2 121011 Keratitis-ichthyosis-deafness syndrome, 148210 (3) GJB2 121011 Keratoderma, palmoplantar, with deafness, 148350 (3) GJB2 121011 Vohwinkel syndrome, 124500 (3) GJB3 603324 Deafness, autosomal dominant 2B, 612644 (3) GJB3 603324 Deafness, autosomal dominant, with peripheral neuropathy (3) GJB3 603324 Deafness, autosomal recessive (3) GJB3 603324 Deafness, digenic, GJB2/GJB3, 220290 (3) GJB3 603324 Erythrokeratodermia variabilis et progressiva, 133200 (3) GJB4 605425 Erythrokeratodermia variabilis with erythema gyratum repens, 133200 (3) GJB6 604418 Deafness, autosomal dominant 3B, 612643 (3) GJB6 604418 Deafness, autosomal recessive 1B, 612645 (3) GJB6 604418 Deafness, digenic GJB2/GJB6, 220290 (3) GJB6 604418 Ectodermal dysplasia, hidrotic, 129500 (3) GJC2 608803 Leukodystrophy, hypomyelinating, 2, 608804 (3) GJC2 608803 Lymphedema, hereditary, IC, 613480 (3) GJC2 608803 Spastic paraplegia, 44, 613206 (3) GLA 300644 Fabry disease, 301500 (3) GLA 300644 Fabry disease, cardiac variant, 301500 (3) GLB1 611458 GM1-gangliosidosis, type I, 230500 (3) GLB1 611458 GM1-gangliosidosis, type II, 230600 (3) GLB1 611458 GM1-gangliosidosis, type III, 230650 (3) GLB1 611458 Mucopolysaccharidosis type IVB (Morquio), 253010 (3) GLCCI1 614283 {Glucocorticoid therapy, response to}, 614400 (3) GLDC 238300 Glycine encephalopathy, 605899 (3) GLE1 603371 Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) GLE1 603371 Lethal congenital contracture syndrome 1, 253310 (3) GLI2 165230 Holoprosencephaly-9, 610829 (3) GLI3 165240 Greig cephalopolysyndactyly syndrome, 175700 (3) GLI3 165240 Pallister-Hall syndrome, 146510 (3) GLI3 165240 Polydactyly, postaxial, types A1 and B, 174200 (3) GLI3 165240 Polydactyly, preaxial, type IV, 174700 (3) GLI3 165240 {Hypothalamic hamartomas, somatic}, 241800 (3) GLIS2 608539 Nephronophthisis 7, 611498 (3) GLIS3 610192 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) GLMN 601749 Glomuvenous malformations, 138000 (3) GLRA1 138491 Hyperekplexia and spastic paraparesis (3) GLRA1 138491 Startle disease, autosomal recessive (3) GLRA1 138491 Startle disease/hyperekplexia, autosomal dominant, 149400 (3) GLRB 138492 Hyperekplexia, autosomal recessive, 149400 (3) GLRX5 609588 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) GLUD1 138130 Hyperinsulinism-hyperammonemia syndrome, 606762 (3) GLUL 138290 Glutamine deficiency, congenital, 610015 (3) GLYCTK 610516 D-glyceric aciduria, 220120 (3) GM2A 613109 GM2-gangliosidosis, AB variant, 272750 (3) GMPS 600358 Leukemia, acute myelogenous, 601626 (3) GNAI2 139360 Pituitary ACTH-secreting adenoma (3) GNAI2 139360 Ventricular tachycardia, idiopathic, 192605 (3) GNAS 139320 Acromegaly, 102200 (3) GNAS 139320 McCune-Albright syndrome, 174800 (3) GNAS 139320 Osseous heteroplasia, progressive, 166350 (3) GNAS 139320 Prolonged bleeding time, brachydactyly and mental retardation (3) GNAS 139320 Pseudohypoparathyroidism Ia, 103580 (3) GNAS 139320 Pseudohypoparathyroidism Ib, 603233 (3) GNAS 139320 Pseudohypoparathyroidism Ic, 612462 (3) GNAS 139320 Pseudopseudohypoparathyroidism, 612463 (3) GNAS-AS1 610540 Pseudohypoparathyroidism, type IB, 603233 (3) GNAT1 139330 Night blindness, congenital stationary, autosomal dominant 3, 610444 (3) GNAT2 139340 Achromatopsia-4, 613856 (3) GNB3 139130 {Hypertension, essential, susceptibility to}, 145500 (3) GNE 603824 Inclusion body myopathy, autosomal recessive, 600737 (3) GNE 603824 Nonaka myopathy, 605820 (3) GNE 603824 Sialuria, 269921 (3) GNMT 606628 Glycine N-methyltransferase deficiency, 606664 (3) GNPAT 602744 Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) GNPTAB 607840 Mucolipidosis II alpha/beta, 252500 (3) GNPTAB 607840 Mucolipidosis III alpha/beta, 252600 (3) GNPTG 607838 Mucolipidosis III gamma, 252605 (3) GNRHR 138850 Fertile eunuch syndrome, 228300 (3) GNRHR 138850 Hypogonadotropic hypogonadism (3) GNS 607664 Mucopolysaccharidosis type IIID, 252940 (3) GOLGA5 606918 Thyroid carcinoma, papillary, 188550 (3) GORAB 607983 Geroderma osteodysplasticum, 231070 (3) GOSR2 604027 Epilepsy, progressive myoclonic 6, 614018 (3) GOT1 138180 Aspartate aminotransferase, serum level of, QTL1, 614419 (3) GP1BA 606672 Bernard-Soulier syndrome, type A1 (recessive), 231200 (3) GP1BA 606672 Bernard-Soulier syndrome, type A2 (dominant), 153670 (3) GP1BA 606672 von Willebrand disease, platelet-type, 177820 (3) GP1BA 606672 {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3) GP1BB 138720 Bernard-Soulier syndrome, type B, 231200 (3) GP1BB 138720 Giant platelet disorder, isolated, 231200 (3) GP6 605546 Bleeding disorder, platelet-type, 11, 614201 (3) GP9 173515 Bernard-Soulier syndrome, type C, 231200 (3) GPC3 300037 Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) GPC3 300037 Wilms tumor, somatic, 194070 (3) GPC6 604404 Omodysplasia 1, 258315 (3) GPD1 138420 Hypertriglyceridemia, transient infantile, 614480 (3) GPD1L 611778 Brugada syndrome 2, 611777 (3) GPD2 138430 {Diabetes, type 2, susceptibility to}, 125853 (3) GPHN 603930 Hyperekplexia, 149400 (3) GPHN 603930 Molybdenum cofactor deficiency, type C, 252150 (3) GPI 172400 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3) GPR143 300808 Nystagmus 6, congenital, X-linked, 300814 (3) GPR143 300808 Ocular albinism, type I, Nettleship-Falls type, 300500 (3) GPR56 604110 Polymicrogyria, bilateral frontoparietal, 606854 (3) GPR98 602851 Febrile seizures, familial, 4, 604352 (3) GPR98 602851 Usher syndrome, type 2C, 605472 (3) GPR98 602851 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3) GPSM2 609245 Deafness, autosomal recessive 82, 613557 (3) GRHL2 608576 Deafness, autosomal dominant 28, 608641 (3) GRHPR 604296 Hyperoxaluria, primary, type II, 260000 (3) GRIA3 305915 Mental retardation, X-linked 94, 300699 (3) GRIK2 138244 Mental retardation, autosomal recessive, 6, 611092 (3) GRIN1 138249 Mental retardation, autosomal dominant 8, 614254 (3) GRIN2A 138253 Epilepsy with neurodevelopmental defects, 613971 (3) GRIN2B 138252 Mental retardation, autosomal dominant 6, 613970 (3) GRK1 180381 Oguchi disease-2, 613411 (3) GRM6 604096 Night blindness, congenital stationary, type 1B, 257270 (3) GRN 138945 Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3) GRXCR1 613283 Deafness, autosomal recessive 25, 613285 (3) GSN 137350 Amyloidosis, Finnish type, 105120 (3) GSS 601002 Glutathione synthetase deficiency, 266130 (3) GSS 601002 Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3) GTF2H5 608780 Trichothiodystrophy, complementation group A, 601675 (3) GUCA1A 600364 Cone dystrophy-3, 602093 (3) GUCA1A 600364 Cone-rod dystrophy 14, 602093 (3) GUCA1B 602275 Retinitis pigmentosa 48, 613827 (3) GUCY2D 600179 Cone-rod dystrophy 6, 601777(3) GUCY2D 600179 Leber congenital amaurosis 1, 204000 (3) GULOP 240400 Scurvy (3) GUSB 611499 Mucopolysaccharidosis VII, 253220 (3) GYG1 603942 Glycogen storage disease XV, 613507 (3) GYPA 111300 [Blood group, MN] (3) GYPA 111300 {Malaria, resistance to}, 611162 (3) GYPB 111740 [Blood group, Ss] (3) GYPC 110750 [Blood group, Gerbich] (3) GYPC 110750 {Malaria, resistance to}, 611162 (3) GYS1 138570 Glycogen storage disease 0, muscle, 611556 (3) GYS2 138571 Glycogen storage disease, type 0, 240600 (3) H19 103280 Beckwith-Wiedemann syndrome, 130650 (3) H19 103280 Silver-Russell syndrome, 180860 (3) H19 103280 Wilms tumor 2, 194071 (3) H6PD 138090 Cortisone reductase deficiency, 604931 (3) HABP2 603924 {Carotid stenosis, susceptibility to} (3) HABP2 603924 {Venous thromboembolism, susceptibility to}, 188050 (3) HADH 601609 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) HADH 601609 Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3) HADHA 600890 Fatty liver, acute, of pregnancy, 609016 (3) HADHA 600890 HELLP syndrome, maternal, of pregnancy, 609016 (3) HADHA 600890 LCHAD deficiency, 609016 (3) HADHA 600890 Trifunctional protein deficiency, 609015 (3) HADHB 143450 Trifunctional protein deficiency, 609015 (3) HAL 609457 [Histidinemia], 235800 (3) HAMP 606464 Hemochromatosis, type 2B, 613313 (3) HARS 142810 Usher syndrome type 3B, 614504 (3) HAVCR1 606518 {Atopy, resistance to}, 147050 (3) HAX1 605998 Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) HBA1 141800 Erythremias, alpha- (3) HBA1 141800 Heinz body anemias, alpha-, 140700 (3) HBA1 141800 Hemoglobin H disease, nondeletional, 613978 (3) HBA1 141800 Methemoglobinemias, alpha- (3) HBA1 141800 Thalassemias, alpha-, 604131 (3) HBA2 141850 Erythrocytosis (3) HBA2 141850 Heinz body anemia, 140700 (3) HBA2 141850 Hemoglobin H disease, nondeletional, 613978 (3) HBA2 141850 Hypochromic microcytic anemia (3) HBA2 141850 Thalassemia, alpha-, 604131 (3) HBB 141900 Delta-beta thalassemia, 141749 (3) HBB 141900 Erythremias, beta- (3) HBB 141900 Heinz body anemias, beta-, 140700 (3) HBB 141900 Hereditary persistence of fetal hemoglobin, 141749 (3) HBB 141900 Methemoglobinemias, beta- (3) HBB 141900 Sickle cell anemia, 603903 (3) HBB 141900 Thalassemia-beta, dominant inclusion-body, 603902 (3) HBB 141900 Thalassemias, beta-, 613985 (3) HBD 142000 Thalassemia due to Hb Lepore (3) HBD 142000 Thalassemia, delta- (3) HBG1 142200 Fetal hemoglobin quantitative trait locus 1, 141749 (3) HBG2 142250 Cyanosis, transient neonatal, 613977 (3) HBG2 142250 Fetal hemoglobin quantitative trait locus 1, 141749 (3) HCCS 300056 Microphthalmia, syndromic 7, 309801 (3) HCN4 605206 Brugada syndrome 8, 613123 (3) HCN4 605206 Sick sinus syndrome 2, 163800 (3) HCRT 602358 Narcolepsy 1, 161400 (3) HDAC4 605314 Brachydacytly-mental retardation syndrome, 600430 (3) HEPACAM 611642 Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) HEPACAM 611642 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3) HERC2 605837 [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) HERC2 605837 [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3) HES7 608059 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) HESX1 601802 Growth hormone deficiency with pituitary anomalies, 182230 (3) HESX1 601802 Pituitary hormone deficiency, combined, 5, 182230 (3) HESX1 601802 Septooptic dysplasia, 182230 (3) HEXA 606869 GM2-gangliosidosis, several forms, 272800 (3) HEXA 606869 Tay-Sachs disease, 272800 (3) HEXA 606869 [Hex A pseudodeficiency], 272800 (3) HEXB 606873 Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) HFE 613609 Hemochromatosis, 235200 (3) HFE 613609 [Transferrin serum level QTL2], 614193 (3) HFE 613609 {Alzheimer disease, susceptibility to}, 104300 (3) HFE 613609 {Microvascular complications of diabetes 7}, 612635 (3) HFE 613609 {Porphyria cutanea tarda, susceptibility to}, 176100 (3) HFE 613609 {Porphyria variegata, susceptibility to}, 176200 (3) HFE2 608374 Hemochromatosis, type 2A, 602390 (3) HGD 607474 Alkaptonuria, 203500 (3) HGF 142409 Deafness, autosomal recessive 39, 608265 (3) HGSNAT 610453 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) HIBCH 610690 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) HK1 142600 Hemolytic anemia due to hexokinase deficiency, 235700 (3) HLA-A 142800 {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) HLA-B 142830 {Abacavir hypersensitivity, susceptibility to} (3) HLA-B 142830 {Drug-induced liver injury due to flucloxacillin} (3) HLA-B 142830 {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) HLA-B 142830 {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) HLA-B 142830 {Synovitis, chronic, susceptibility to} (3) HLA-B 142830 {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) HLA-C 142840 {HIV-1 viremia, susceptibility to}, 609423 (3) HLA-C 142840 {Psoriasis susceptibility 1}, 177900 (3) HLA-DPB1 142858 {Beryllium disease, chronic, susceptibility to} (3) HLA-DQA1 146880 {Celiac disease, susceptibility to}, 212750 (3) HLA-DQB1 604305 {Celiac disease, susceptibility to}, 212750 (3) HLA-DQB1 604305 {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3) HLA-DQB1 604305 {Multiple sclerosis, susceptibility to}, 126200 (3) HLA-DRB1 142857 {Multiple sclerosis, susceptibility to}, 126200 (3) HLA-DRB1 142857 {Rheumatoid arthritis, susceptibility to}, 180300 (3) HLA-DRB1 142857 {Sarcoidosis, susceptibility l, 1}, 181000 (3) HLCS 609018 Holocarboxylase synthetase deficiency, 253270 (3) HMBS 609806 Porphyria, acute intermittent, 176000 (3) HMBS 609806 Porphyria, acute intermittent, nonerythroid variant, 176000 (3) HMCN1 608548 {Macular degeneration, age-related, 1}, 603075 (3) HMGA1 600701 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) HMGCL 613898 HMG-CoA lyase deficiency, 246450 (3) HMGCR 142910 [Low density lipoprotein cholesterol level QTL 3] (3) HMGCR 142910 [Statins, attenuated cholesterol lowering by] (3) HMGCS2 600234 HMG-CoA synthase-2 deficiency, 605911 (3) HMMR 600936 {Breast cancer, susceptibility to}, 114480 (3) HMOX1 141250 Heme oxygenase-1 deficiency, 614034 (3) HMOX1 141250 {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3) HMX1 142992 Oculoauricular syndrome, 612109 (3) HNF1A 142410 Diabetes mellitus, insulin-dependent, 20, 612520 (3) HNF1A 142410 Hepatic adenoma, somatic, 142330 (3) HNF1A 142410 MODY, type III, 600496 (3) HNF1A 142410 Renal cell carcinoma, 144700 (3) HNF1A 142410 {Diabetes mellitus, insulin-dependent}, 222100 (3) HNF1A 142410 {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3) HNF1B 189907 Diabetes mellitus, noninsulin-dependent, 125853 (3) HNF1B 189907 Renal cysts and diabetes syndrome, 137920 (3) HNF1B 189907 {Renal cell carcinoma}, 144700 (3) HNF4A 600281 MODY, type I, 125850 (3) HNF4A 600281 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) HNMT 605238 {Asthma, susceptibility to}, 600807 (3) HOGA1 613597 Hyperoxaluria, primary, type III, 613616 (3) HOXA1 142955 Athabaskan brainstem dysgenesis syndrome, 601536 (3) HOXA1 142955 Bosley-Salih-Alorainy syndrome, 601536 (3) HOXA11 142958 Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 (3) HOXA13 142959 Guttmacher syndrome, 176305 (3) HOXA13 142959 Hand-foot-uterus syndrome, 140000 (3) HOXA2 604685 Microtia, hearing impairment, and cleft palate, 612290 (3) HOXD10 142984 Charcot-Marie-Tooth disease, foot deformity of, 192950 (3) HOXD10 142984 Vertical talus, congenital, 192950 (3) HOXD13 142989 Brachydactyly, type D, 113200 (3) HOXD13 142989 Brachydactyly, type E, 113300 (3) HOXD13 142989 Brachydactyly-syndactyly syndrome, 610713 (3) HOXD13 142989 Syndactyly, type V, 186300 (3) HOXD13 142989 Synpolydactyly with foot anomalies, 186000 (3) HOXD13 142989 Synpolydactyly, type II, 186000 (3) HOXD13 142989 VACTERL association, 192350 (3) HOXD4 142981 {Leukemia, acute lymphoblastic, susceptibility to} (3) HPD 609695 Hawkinsinuria, 140350 (3) HPD 609695 Tyrosinemia, type III, 276710 (3) HPGD 601688 Cranioosteoarthropathy, 259100 (3) HPGD 601688 Digital clubbing, isolated congenital, 119900 (3) HPGD 601688 Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3) HPRT1 308000 HPRT-related gout, 300323 (3) HPRT1 308000 Lesch-Nyhan syndrome, 300322 (3) HPS1 604982 Hermansky-Pudlak syndrome 1, 203300 (3) HPS3 606118 Hermansky-Pudlak syndrome 3, 614072 (3) HPS4 606682 Hermansky-Pudlak syndrome 4, 614073 (3) HPS5 607521 Hermansky-Pudlak syndrome 5, 614074 (3) HPS6 607522 Hermansky-Pudlak syndrome 6, 614075 (3) HPSE2 613469 Urofacial syndrome, 236730 (3) HRAS 190020 Costello syndrome, 218040 (3) HRAS 190020 {Bladder cancer, somatic}, 109800 (3) HRAS 190020 {Thyroid carcinoma, follicular, somatic}, 188470 (3) HRG 142640 Thrombophilia due to HRG deficiency, 613116 (3) HSD11B1 600713 Cortisone reductase deficiency, 604931 (3) HSD11B2 614232 Apparent mineralocorticoid excess, 218030 (3) HSD17B10 300256 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3) HSD17B10 300256 Mental retardation, X-linked 17/31, microduplication, 300705 (3) HSD17B10 300256 Mental retardation, X-linked syndromic 10, 300220 (3) HSD17B3 605573 Pseudohermaphroditism, male, with gynecomastia, 264300 (3) HSD17B4 601860 D-bifunctional protein deficiency, 261515 (3) HSD17B4 601860 Perrault syndrome, 233400 (3) HSD3B2 613890 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) HSD3B7 607764 Bile acid synthesis defect, congenital, 1, 607765 (3) HSF4 602438 Cataract, Marner type, 116800 (3) HSF4 602438 Cataract, lamellar, 116800 (3) HSPB1 602195 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) HSPB1 602195 Neuropathy, distal hereditary motor, type IIB, 608634 (3) HSPB3 604624 Neuronopathy, distal hereditary motor, type IIC, 613376 (3) HSPB8 608014 Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) HSPB8 608014 Neuropathy, distal hereditary motor, type IIA, 158590 (3) HSPD1 118190 Leukodystrophy, hypomyelinating, 4, 612233 (3) HSPD1 118190 Spastic paraplegia-13, 605280 (3) HSPG2 142461 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) HSPG2 142461 Schwartz-Jampel syndrome, type 1, 255800 (3) HTR2A 182135 {Alcohol dependence, susceptibility to}, 103780 (3) HTR2A 182135 {Anorexia nervosa, susceptibility to}, 606788 (3) HTR2A 182135 {Major depressive disorder, response to citalopram therapy in}, 608516 (3) HTR2A 182135 {Obsessive-compulsive disorder, susceptibility to}, 164230 (3) HTR2A 182135 {Schizophrenia, susceptibility to}, 181500 (3) HTR2A 182135 {Seasonal affective disorder, susceptibility to}, 608516 (3) HTRA1 602194 {Macular degeneration, age-related, 7}, 610149 (3) HTRA1 602194 {Macular degeneration, age-related, neovascular type}, 610149 (3) HTRA2 606441 Parkinson disease 13, 610297 (3) HTT 613004 Huntington disease, 143100 (3) HUWE1 300697 Mental retardation, X-linked syndromic, Turner type, 300706 (3) HYAL1 607071 Mucopolysaccharidosis type IX, 601492 (3) HYLS1 610693 Hydrolethalus syndrome, 236680 (3) ICAM1 147840 {Malaria, cerebral, susceptibility to}, 611162 (3) ICAM4 614088 [Blood group, Landsteiner-Wiener], 111250 (3) ICK 612325 Endocrine-cerebroosteodysplasia, 612651 (3) ICOS 604558 Immunodeficiency, common variable, 1, 607594 (3) IDH2 147650 D-2-hydrosyglutaric aciduria 2, 613657 (3) IDH3B 604526 Retinitis pigmentosa 46 (3) IDS 300823 Mucopolysaccharidosis II, 309900 (3) IDUA 252800 Mucopolysaccharidosis Ih, 607014 (3) IDUA 252800 Mucopolysaccharidosis Ih/s, 607015 (3) IDUA 252800 Mucopolysaccharidosis Is, 607016 (3) IER3IP1 609382 Microcephaly, epilepsy, and diabetes syndrome, 614231 (3) IFNAR2 602376 {Hepatitis B virus, susceptibility to}, 610424 (3) IFNG 147570 {AIDS, rapid progression to}, 609423 (3) IFNG 147570 {Aplastic anemia}, 609135 (3) IFNG 147570 {Hepatitis C virus, response to therapy of}, 609532 (3) IFNG 147570 {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3) IFNG 147570 {Tuberculosis, protection against}, 607948 (3) IFNGR1 107470 BCG infection, generalized familial, 209950 (3) IFNGR1 107470 Mycobacterial infection, atypical, familial disseminated, 209950 (3) IFNGR1 107470 {H. pylori infection, susceptibility to}, 600263 (3) IFNGR1 107470 {Hepatitis B virus infection, susceptibility to}, 610424 (3) IFNGR1 107470 {Mycobacterium tuberculosis infection, protection against}, 600263 (3) IFNGR1 107470 {Tuberculosis, susceptibility to}, 607948 (3) IFNGR2 147569 {Mycobacterial infection, atypical, familial disseminated}, 209950 (3) IFT122 606045 Cranioectodermal dysplasia, 218330 (3) IFT43 614068 Cranioectodermal dysplasia 3, 614099 (3) IFT80 611177 Asphyxiating thoracic dystrophy 2, 611263 (3) IGBP1 300139 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3) IGF1 147440 Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3) IGF1R 147370 Insulin-like growth factor I, resistance to, 270450 (3) IGF2BP2 608289 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) IGF2R 147280 Hepatocellular carcinoma (3) IGFALS 601489 Acid-labile subunit, deficiency of (3) IGFBP7 602867 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3) IGHG2 147110 IgG2 deficiency, selective (3) IGHM 147020 Agammaglobulinemia 1, 601495 (3) IGHMBP2 600502 Neuronopathy, distal hereditary motor, type VI, 604320 (3) IGKC 147200 [Kappa light chain deficiency], 614102 (3) IGLL1 146770 Agammaglobulinemia 2, 613500 (3) IHH 600726 Acrocapitofemoral dysplasia, 607778 (3) IHH 600726 Brachydactyly, type A1, 112500 (3) IKBKAP 603722 Dysautonomia, familial, 223900 (3) IKBKG 300248 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3) IKBKG 300248 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) IKBKG 300248 Immunodeficiency, isolated, 300584 (3) IKBKG 300248 Incontinentia pigmenti, type II, 308300 (3) IKBKG 300248 Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3) IKBKG 300248 {Atypical mycobacteriosis, familial}, 300636 (3) IKZF1 603023 Leukemia, acute lymphoblastic (3) IL10 124092 {Graft-versus-host disease, protection against}, 614395 (3) IL10 124092 {HIV-1, susceptibility to}, 609423 (3) IL10 124092 {Rheumatoid arthritis, progression of}, 180300 (3) IL10RA 146933 Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3) IL10RB 123889 Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3) IL10RB 123889 {Hepatitis B virus, susceptibility to}, 610424 (3) IL11RA 600939 Craniosynostosis and dental anomalies, 614188 (3) IL12B 161561 {Asthma, susceptibility to}, 600807 (3) IL12RB1 601604 {Mycobacterial and salmonella infections, susceptibility to}, 209950 (3) IL13 147683 {Allergic rhinitis, susceptibility to}, 607154 (3) IL13 147683 {Asthma, susceptibility to}, 600807 (3) IL17F 606496 Candidiasis, familial, 6, autosomal dominant, 613956 (3) IL17RA 605461 Candidiasis, familial, 5, autosomal recessive, 613953 (3) IL1B 147720 {Gastric cancer risk after H. pylori infection}, 137215 (3) IL1RAPL1 300206 Mental retardation, X-linked 21/34, 300143 (3) IL1RN 147679 Interleukin 1 receptor antagonist deficiency, 612852 (3) IL1RN 147679 {Gastric cancer risk after H. pylori infection}, 137215 (3) IL1RN 147679 {Microvascular complications of diabetes 4}, 612628 (3) IL21R 605383 [IgE, elevated level of], 147050 (3) IL23R 607562 {Inflammatory bowel disease 17, protection against}, 612261 (3) IL23R 607562 {Psoriasis, protection against}, 605606 (3) IL28B 607402 {Hepatitis C virus infection, response to therapy of}, 609532 (3) IL2RA 147730 Interleukin-2 receptor, alpha chain, deficiency of, 606367 (3) IL2RA 147730 {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3) IL2RG 308380 Combined immunodeficiency, X-linked, moderate, 312863 (3) IL2RG 308380 Severe combined immunodeficiency, X-linked, 300400 (3) IL31RA 609510 Amyloidosis, primary localized cutaneous, 2, 613955 (3) IL36RN 605507 Psoriasis, generalized pustular, 614204 (3) IL4R 147781 {AIDS, slow progression to}, 609423 (3) IL4R 147781 {Atopy, susceptibility to}, 147050 (3) IL6 147620 {Crohn disease-associated growth failure}, 266600 (3) IL6 147620 {Diabetes, susceptibility to}, 222100, 125853 (3) IL6 147620 {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3) IL6 147620 {Kaposi sarcoma, susceptibility to}, 148000 (3) IL6 147620 {Rheumatoid arthritis, systemic juvenile}, 604302 (3) IL7R 146661 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) ILDR1 609739 Deafness, autosomal recessive 42, 609646 (3) IMPAD1 614010 Chondrodysplasia with joint dislocations, GRAPP type, 614078 (3) IMPDH1 146690 Leber congenital amaurosis 11, 613837 (3) IMPDH1 146690 Retinitis pigmentosa 10, 180105 (3) IMPDH2 146691 [IMPDH2 enzyme activity, variation in] (3) IMPG2 607056 Maculopathy, IMPG2-related, 613581 (3) IMPG2 607056 Retinitis pigmentosa 56, 613581 (3) INF2 610982 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3) INF2 610982 Glomerulosclerosis, focal segmental, 5, 613237 (3) ING1 601566 Squamous cell carcinoma, head and neck, somatic, 275355 (3) INPP5E 613037 Joubert syndrome 1, 213300 (3) INPP5E 613037 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3) INS 176730 Diabetes mellitus, insulin-dependent, 2, 125852 (3) INS 176730 Diabetes mellitus, permanent neonatal, 606176 (3) INS 176730 Diabetes mellitus, type 1, 125852 (3) INS 176730 Hyperproinsulinemia, familial, with or without diabetes (3) INS 176730 Maturity-onset diabetes of the young, type 10, 613370 (3) INSL3 146738 Cryptorchidism, idiopathic, 219050 (3) INSR 147670 Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3) INSR 147670 Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) INSR 147670 Leprechaunism, 246200 (3) INSR 147670 Rabson-Mendenhall syndrome, 262190 (3) INVS 243305 Nephronophthisis 2, infantile, 602088 (3) IQCB1 609237 Senior-Loken syndrome 5, 609254 (3) IQSEC2 300522 Mental retardation, X-linked 1, 309530 (3) IRAK3 604459 {Asthma susceptibility 5}, 611064 (3) IRAK4 606883 IRAK4 deficiency, 607676 (3) IRAK4 606883 Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3) IRF1 147575 Gastric cancer, somatic, 137215 (3) IRF1 147575 Myelodysplastic syndrome, preleukemic (3) IRF1 147575 Myelogenous leukemia, acute (3) IRF1 147575 Nonsmall cell lung cancer, somatic, 211980 (3) IRF4 601900 Multiple myeloma, 254500 (3) IRF5 607218 {Inflammatory bowel disease 14}, 612245 (3) IRF5 607218 {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) IRF6 607199 Orofacial cleft 6, 608864 (3) IRF6 607199 Popliteal pterygium syndrome, 119500 (3) IRF6 607199 van der Woude syndrome, 119300 (3) IRGM 608212 Inflammatory bowel disease 19, 612278 (3) IRGM 608212 {Mycobacterium tuberculosis, protection against}, 607948 (3) IRS1 147545 {Coronary artery disease, susceptibility to} (3) IRS1 147545 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) IRS2 600797 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) ISCU 611911 Myopathy with lactic acidosis, hereditary, 255125 (3) ITCH 606409 Autoimmune disease, syndromic multisystem, 613385 (3) ITGA2B 607759 Glanzmann thrombasthenia, 273800 (3) ITGA2B 607759 Thrombocytopenia, neonatal alloimmune, BAK antigen related (3) ITGA6 147556 Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) ITGA7 600536 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3) ITGAM 120980 {Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3) ITGB2 600065 Leukocyte adhesion deficiency, 116920 (3) ITGB3 173470 Glanzmann thrombasthenia, 273800 (3) ITGB3 173470 Purpura, posttransfusion (3) ITGB3 173470 Thrombocytopenia, neonatal alloimmune (3) ITGB3 173470 {Myocardial infarction, susceptibility to}, 608446 (3) ITGB4 147557 Epidermolysis bullosa of hands and feet, 131800 (3) ITGB4 147557 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) ITGB4 147557 Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) ITIH4 600564 {Hypercholesterolemia, susceptibility to}, 143890 (3) ITK 186973 Lymphoproliferative syndrome, EBV-associated, autosomal, 1, 613011 (3) ITM2B 603904 Dementia, familial British, 176500 (3) ITM2B 603904 Dementia, familial Danish, 117300 (3) ITPA 147520 [Inosine triphosphatase deficiency], 613850 (3) ITPKC 606476 {Kawasaki disease, susceptibility to}, 611775 (3) ITPR1 147265 Spinocerebellar ataxia 15, 606658 (3) IVD 607036 Isovaleric acidemia, 243500 (3) IYD 612025 Thyroid dyshormonogenesis 4, 274800 (3) JAG1 601920 Alagille syndrome, 118450 (3) JAG1 601920 Deafness, congenital heart defects, and posterior embryotoxon (3) JAG1 601920 Tetralogy of Fallot, 187500 (3) JAK2 147796 Leukemia, acute myelogenous, 601626 (3) JAK2 147796 Myelofibrosis, idiopathic, 254450 (3) JAK2 147796 Myeloproliferative disorder with erythrocytosis (3) JAK2 147796 Polycythemia vera, 263300 (3) JAK2 147796 Thrombocythemia 3, 614521 (3) JAK2 147796 {Budd-Chiari syndrome}, 600880 (3) JAK3 600173 SCID, autosomal recessive, T-negative/B-positive type (3) JAM3 606871 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3) JPH2 605267 Cardiomyopathy, familial hypertrophic 17, 613873 (3) JPH3 605268 Huntington disease-like 2, 606438 (3) JUP 173325 Arrhythmogenic right ventricular dysplasia 12, 611528 (3) JUP 173325 Naxos disease, 601214 (3) KAL1 300836 Kallmann syndrome, 308700 (3) KALRN 604605 {Coronary heart disease, susceptibility to, 5}, 608901 (3) KANK1 607704 Cerebral palsy, spastic quadriplegic, 2, 612900 (3) KARS 601421 Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) KAT6B 605880 SBBYSS syndrome, 603736 (3) KBTBD13 613727 Nemaline myopathy 6, 609273 (3) KCNA1 176260 Episodic ataxia/myokymia syndrome, 160120 (3) KCNA5 176267 Atrial fibrillation, familial, 7, 612240 (3) KCNC3 176264 Spinocerebellar ataxia 13, 605259 (3) KCNE1 176261 Jervell and Lange-Nielsen syndrome 2, 612347 (3) KCNE1 176261 Long QT syndrome-5, 613695 (3) KCNE2 603796 Atrial fibrillation, familial, 4, 611493 (3) KCNE2 603796 Long QT syndrome-6, 613693 (3) KCNE3 604433 Brugada syndrome 6, 613119 (3) KCNH2 152427 Long QT syndrome-2, 613688 (3) KCNH2 152427 Short QT syndrome-1, 609620 (3) KCNH2 152427 {Long QT syndrome-2, acquired, susceptibility to}, 613688 (3) KCNJ1 600359 Bartter syndrome, type 2, 241200 (3) KCNJ10 602208 Enlarged vestibular aqueduct, digenic, 600791 (3) KCNJ10 602208 SESAME syndrome, 612780 (3) KCNJ11 600937 Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3) KCNJ11 600937 Diabetes mellitus, transient neonatal, 3, 610582 (3) KCNJ11 600937 Diabetes, permanent neonatal, 606176 (3) KCNJ11 600937 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) KCNJ11 600937 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3) KCNJ13 603208 Leber congenital amaurosis 16, 614186 (3) KCNJ13 603208 Snowflake vitreoretinal degeneration, 193230 (3) KCNJ18 613236 {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3) KCNJ2 600681 Atrial fibrillation, familial, 9, 613980 (3) KCNJ2 600681 Long QT syndrome-7, 170390 (3) KCNJ2 600681 Short QT syndrome-3, 609622 (3) KCNJ5 600734 Hyperaldosteronism, familial, type III, 613677 (3) KCNJ5 600734 Long QT syndrome 13, 613485 (3) KCNK18 613655 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3) KCNK9 605874 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3) KCNMA1 600150 Generalized epilepsy and paroxysmal dyskinesia, 609446 (3) KCNMB1 603951 {Hypertension, diastolic, resistance to}, 608622 (3) KCNQ1 607542 Atrial fibrillation, familial, 3, 607554 (3) KCNQ1 607542 Jervell and Lange-Nielsen syndrome, 220400 (3) KCNQ1 607542 Long QT syndrome-1, 192500 (3) KCNQ1 607542 Short QT syndrome-2, 609621 (3) KCNQ1 607542 {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) KCNQ1OT1 604115 Beckwith-Wiedemann syndrome, 130650 (3) KCNQ2 602235 Epileptic encephalopathy, early infantile, 7, 613720 (3) KCNQ2 602235 Myokymia, 121200 (3) KCNQ2 602235 Seizures, benign neonatal, 1, 121200 (3) KCNQ3 602232 Seizures, benign neonatal, type 2, 121201 (3) KCNQ4 603537 Deafness, autosomal dominant 2A, 600101 (3) KCNV2 607604 Retinal cone dystrophy 3B, 610356 (3) KCTD7 611725 Epilepsy, progressive myoclonic 3, 611726 (3) KDM5C 314690 Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) KDM6A 300128 Kabuki syndrome 2, 300867 (3) KDR 191306 Hemangioma, capillary infantile, somatic, 602089 (3) KDR 191306 {Hemangioma, capillary infantile, susceptibility to}, 602089 (3) KEL 613883 [Blood group, Kell], 110900 (3) KERA 603288 Cornea plana congenita, recessive, 217300 (3) KHK 614058 [Fructosuria], 229800 (3) KIAA0196 610657 Spastic paraplegia-8, 603563 (3) KIAA0319 609269 {Dyslexia, susceptibility to, 2}, 600202 (3) KIAA1199 608366 ?Deafness, nonsyndromic (3) KIAA1279 609367 Goldberg-Shprintzen megacolon syndrome, 609460 (3) KIF1A 601255 Mental retardation, autosomal dominant 9, 614255 (3) KIF1A 601255 Neuropathy, hereditary sensory, type IIC, 614213 (3) KIF1A 601255 Spastic paraplegia 30, autosomal recessive, 610357 (3) KIF1B 605995 Charcot-Marie-Tooth disease, type 2A1, 118210 (3) KIF1B 605995 Pheochromocytoma, 171300 (3) KIF1B 605995 {Neuroblastoma, susceptibility to, 1}, 256700 (3) KIF21A 608283 Fibrosis of extraocular muscles, congenital, 1, 135700 (3) KIF21A 608283 Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) KIF22 603213 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3) KIF5A 602821 Spastic paraplegia 10, 604187 (3) KIF7 611254 Acrocallosal syndrome, 200990 (3) KIF7 611254 Hydrolethalus syndrome 2, 614120 (3) KIF7 611254 Joubert syndrome 12, 200990 (3) KIR3DL1 604946 {AIDS, delayed/rapid progression to}, 609423 (3) KIRREL3 607761 Mental retardation, autosomal dominant 4, 612581 (3) KISS1 603286 Hypogonadotropic hypogonadism, 146110 (3) KISS1R 604161 Hypogonadotropic hypogonadism, 146110 (3) KISS1R 604161 Precocious puberty, central, 176400 (3) KIT 164920 Gastrointestinal stromal tumor, somatic, 606764 (3) KIT 164920 Germ cell tumors, 273300 (3) KIT 164920 Leukemia, acute myeloid, 601626 (3) KIT 164920 Mast cell leukemia (3) KIT 164920 Mastocytosis with associated hematologic disorder (3) KIT 164920 Piebaldism (3) KITLG 184745 Hyperpigmentation, familial progressive, 2, 145250 (3) KITLG 184745 [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3) KLF1 600599 Anemia, dyserythropoietic congenital, type IV, 613673 (3) KLF1 600599 Blood group--Lutheran inhibitor, 111150 (3) KLF1 600599 [Hereditary persistence of fetal hemoglobin], 613566 (3) KLF11 603301 Maturity-onset diabetes of the young, type VII, 610508 (3) KLF6 602053 Gastric cancer, somatic, 137215 (3) KLF6 602053 Prostate cancer, somatic, 176807 (3) KLHDC8B 613169 Hodgkin lymphoma, 236000 (3) KLHL3 605775 Pseudohypoaldosteronism, type IID, 614495 (3) KLHL7 611119 Retinitis pigmentosa 42, 612943 (3) KLK1 147910 [Kallikrein, decreased urinary activity of] (3) KLK4 603767 Amelogenesis imperfecta, type IIA1, 204700 (3) KLKB1 229000 Fletcher factor deficiency, 612423 (3) KNG1 612358 [High molecular weight kininogen deficiency], 228960 (3) KNG1 612358 [Kininogen deficiency], 228960 (3) KRAS 190070 Bladder cancer, 109800 (3) KRAS 190070 Breast cancer, somatic, 114480 (3) KRAS 190070 Cardiofaciocutaneous syndrome, 115150 (3) KRAS 190070 Gastric cancer, 137215 (3) KRAS 190070 Leukemia, acute myelogenous (3) KRAS 190070 Lung cancer, 211980 (3) KRAS 190070 Noonan syndrome 3, 609942 (3) KRAS 190070 Pancreatic carcinoma, somatic, 260350 (3) KRIT1 604214 Cavernous malformations of CNS and retina, 116860 (3) KRIT1 604214 Cerebral cavernous malformations-1, 116860 (3) KRIT1 604214 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3) KRT1 139350 Epidermolytic hyperkeratosis, 113800 (3) KRT1 139350 Ichthyosis histrix, Curth-Macklin type, 146590 (3) KRT1 139350 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) KRT1 139350 Keratosis palmoplantaris striata III, 607654 (3) KRT1 139350 Palmoplantar keratoderma, epidermolytic, 144200 (3) KRT1 139350 Palmoplantar keratoderma, nonepidermolytic, 600962 (3) KRT10 148080 Epidermolytic hyperkeratosis, 113800 (3) KRT10 148080 Ichthyosis with confetti, 609165 (3) KRT10 148080 Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) KRT12 601687 Meesmann corneal dystrophy, 122100 (3) KRT13 148065 White sponge nevus, 193900 (3) KRT14 148066 Dermatopathia pigmentosa reticularis, 125595 (3) KRT14 148066 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) KRT14 148066 Epidermolysis bullosa simplex, Koebner type, 131900 (3) KRT14 148066 Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) KRT14 148066 Epidermolysis bullosa simplex, recessive, 601001 (3) KRT14 148066 Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3) KRT16 148067 Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3) KRT16 148067 Palmoplantar keratoderma, nonepidermolytic, 600962 (3) KRT16 148067 Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3) KRT16 148067 Palmoplantar verrucous nevus, unilateral, 144200 (3) KRT17 148069 Pachyonychia congenita, Jackson-Lawler type, 167210 (3) KRT17 148069 Steatocystoma multiplex, 184500 (3) KRT18 148070 Cirrhosis, cryptogenic (3) KRT18 148070 {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) KRT2 600194 Ichthyosis bullosa of Siemens, 146800 (3) KRT3 148043 Meesmann corneal dystrophy, 122100 (3) KRT4 123940 White sponge nevus, 193900 (3) KRT5 148040 Dowling-Degos disease, 179850 (3) KRT5 148040 Epidermolysis bullosa simplex with migratory circinate erythema, 609352 (3) KRT5 148040 Epidermolysis bullosa simplex with mottled pigmentation, 131960 (3) KRT5 148040 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) KRT5 148040 Epidermolysis bullosa simplex, Koebner type, 131900 (3) KRT5 148040 Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) KRT6A 148041 Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3) KRT6B 148042 Pachyonychia congenita, Jackson-Lawler type, 167210 (3) KRT74 608248 Hypotrichosis simplex of the scalp 2, 613981 (3) KRT74 608248 Woolly hair, autosomal dominant, 194300 (3) KRT75 609025 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3) KRT8 148060 Cirrhosis, cryptogenic (3) KRT8 148060 {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) KRT81 602153 Monilethrix, 158000 (3) KRT83 602765 Monilethrix, 158000 (3) KRT85 602767 Ectodermal dysplasia, 'pure' hair-nail type, 602032 (3) KRT86 601928 Monilethrix, 158000 (3) KRT9 607606 Epidermolytic palmoplantar keratoderma, 144200 (3) L1CAM 308840 CRASH syndrome, 303350 (3) L1CAM 308840 Corpus callosum, partial agenesis of, 304100 (3) L1CAM 308840 Hydrocephalus due to aqueductal stenosis, 307000 (3) L1CAM 308840 Hydrocephalus with Hirschsprung disease, 307000 (3) L1CAM 308840 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3) L1CAM 308840 MASA syndrome, 303350 (3) L2HGDH 609584 L-2-hydroxyglutaric aciduria, 236792 (3) LAMA2 156225 Muscular dystrophy, congenital merosin-deficient, 607855 (3) LAMA2 156225 Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3) LAMA3 600805 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) LAMA3 600805 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) LAMA3 600805 Laryngoonychocutaneous syndrome, 245660 (3) LAMB2 150325 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3) LAMB2 150325 Pierson syndrome, 609049 (3) LAMB3 150310 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) LAMB3 150310 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) LAMC2 150292 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) LAMC2 150292 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) LAMC3 604349 Cortical malformations, occipital, 614115 (3) LAMP2 309060 Danon disease, 300257 (3) LAMTOR2 610389 Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3) LARGE 603590 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) LARGE 603590 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3) LBR 600024 HEM skeletal dysplasia, 215140 (3) LBR 600024 Pelger-Huet anomaly, 169400 (3) LBR 600024 Reynolds syndrome, 613471 (3) LCA5 611408 Leber congenital amaurosis 5, 604537 (3) LCAT 606967 Fish-eye disease, 136120 (3) LCAT 606967 Norum disease, 245900 (3) LCT 603202 Lactase deficiency, congenital, 223000 (3) LDB3 605906 Cardiomyopathy, dilated 1C, 601493 (3) LDB3 605906 Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 (3) LDB3 605906 Myopathy, myofibrillar, ZASP-related, 609452 (3) LDHA 150000 Glycogen storage disease XI, 612933 (3) LDHB 150100 Lactate dehydrogenase-B deficiency, 614128 (3) LDLR 606945 Hypercholesterolemia, familial, 143890 (3) LDLR 606945 LDL cholesterol level QTL2, 143890 (3) LDLRAP1 605747 Hypercholesterolemia, familial, autosomal recessive, 603813 (3) LEF1 153245 Sebaceous tumors, somatic (3) LEFTY2 601877 Left-right axis malformations (3) LEMD3 607844 Buschke-Ollendorff syndrome, 166700 (3) LEMD3 607844 Melorheostosis with osteopoikilosis, 155950 (3) LEMD3 607844 Osteopoikilosis, 166700 (3) LEP 164160 Obesity, morbid, with hypogonadism (3) LEP 164160 Obesity, severe, due to leptin deficiency (3) LEPR 601007 Obesity, morbid, with hypogonadism (3) LEPRE1 610339 Osteogenesis imperfecta, type VIII, 610915 (3) LEPREL1 610341 Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3) LFNG 602576 Spondylocostal dysostosis, autosomal recessive 3, 609813 (3) LGALS2 150571 {Myocardial infarction, susceptibility to}, 608446 (3) LGI1 604619 Epilepsy, familial temporal lobe, 1, 600512 (3) LGR4 606666 {Schizophrenia, susceptibility to}, 181500 (3) LHB 152780 Hypogonadism, hypergonadotropic (3) LHCGR 152790 Leydig cell adenoma, somatic, with precocious puberty, 176410 (3) LHCGR 152790 Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3) LHCGR 152790 Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3) LHCGR 152790 Luteinizing hormone resistance, female, 238320 (3) LHCGR 152790 Precocious puberty, male, 176410 (3) LHFPL5 609427 Deafness, autosomal recessive 67, 610265 (3) LHX3 600577 Pituitary hormone deficiency, combined, 3, 221750 (3) LHX4 602146 Pituitary hormone deficiency, combined, 4, 262700 (3) LIAS 607031 Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3) LIFR 151443 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) LIG1 126391 DNA ligase I deficiency (3) LIG4 601837 LIG4 syndrome, 606593 (3) LIG4 601837 Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 (3) LIG4 601837 {Multiple myeloma, resistance to}, 254500 (3) LIM2 154045 Cataract, cortical pulverulent, late-onset (3) LIPA 613497 Cholesteryl ester storage disease, 278000 (3) LIPA 613497 Wolman disease, 278000 (3) LIPC 151670 Hepatic lipase deficiency, 614025 (3) LIPC 151670 [High density lipoprotein cholesterol level QTL 12], 612797 (3) LIPC 151670 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) LIPH 607365 Hypotrichosis, localized, autosomal recessive 2, 604379 (3) LIPH 607365 Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3) LIPI 609252 {Hypertriglyceridemia, susceptibility to}, 145750 (3) LIPN 613924 Ichthyosis, lamellar, 4, 613943 (3) LITAF 603795 Charcot-Marie-Tooth disease, type 1C, 601098 (3) LMAN1 601567 Combined factor V and VIII deficiency, 227300 (3) LMBR1 605522 Acheiropody, 200500 (3) LMBR1 605522 Polydactyly, preaxial type II, 174500 (3) LMBR1 605522 Syndactyly, type IV, 186200 (3) LMBR1 605522 Triphalangeal thumb, type I, 174500 (3) LMBR1 605522 Triphalangeal thumb-polysyndactyly syndrome, 174500 (3) LMBRD1 612625 Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) LMF1 611761 Lipase deficiency, combined, 246650 (3) LMNA 150330 Cardiomyopathy, dilated, 1A, 115200 (3) LMNA 150330 Charcot-Marie-Tooth disease, type 2B1, 605588 (3) LMNA 150330 Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3) LMNA 150330 Emery-Dreifuss muscular dystrophy 3, AR, 181350 (3) LMNA 150330 Heart-hand syndrome, Slovenian type, 610140 (3) LMNA 150330 Hutchinson-Gilford progeria, 176670 (3) LMNA 150330 Lipodystrophy, familial partial, 2, 151660 (3) LMNA 150330 Malouf syndrome, 212112 (3) LMNA 150330 Mandibuloacral dysplasia, 248370 (3) LMNA 150330 Muscular dystrophy, congenital, 613205 (3) LMNA 150330 Muscular dystrophy, limb-girdle, type 1B, 159001 (3) LMNA 150330 Restrictive dermopathy, lethal, 275210 (3) LMNB1 150340 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3) LMNB2 150341 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3) LMX1B 602575 Nail-patella syndrome, 161200 (3) LOR 152445 Vohwinkel syndrome with ichthyosis, 604117 (3) LOXHD1 613072 Deafness, autosomal recessive 77, 613079 (3) LOXL1 153456 {Exfoliation syndrome, susceptibility to}, 177650 (3) LPA 152200 [LPA deficiency, congenital] (3) LPAR6 609239 Hypotrichosis 8, 278150 (3) LPAR6 609239 Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3) LPIN1 605518 Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3) LPIN2 605519 Majeed syndrome, 609628 (3) LPL 609708 Combined hyperlipidemia, familial, 144250 (3) LPL 609708 Lipoprotein lipase deficiency, 238600 (3) LPL 609708 [High density lipoprotein cholesterol level QTL 11] (3) LPP 600700 Leukemia, acute myeloid, 601626 (3) LPP 600700 Lipoma (3) LRAT 604863 Leber congenital amaurosis 14, 613341 (3) LRAT 604863 Retinal dystrophy, early-onset severe, 613341 (3) LRAT 604863 Retinitis pigmentosa, juvenile, 613341 (3) LRP2 600073 Donnai-Barrow syndrome, 222448 (3) LRP4 604270 Cenani-Lenz syndactyly syndrome, 212780 (3) LRP4 604270 Sclerosteosis 2, 614305 (3) LRP5 603506 Exudative vitreoretinopathy 4, 601813 (3) LRP5 603506 Hyperostosis, endosteal, 144750 (3) LRP5 603506 Osteopetrosis, autosomal dominant 1, 607634 (3) LRP5 603506 Osteoporosis-pseudoglioma syndrome, 259770 (3) LRP5 603506 Osteosclerosis, 144750 (3) LRP5 603506 [Bone mineral density variability 1], 601884 (3) LRP5 603506 van Buchem disease, type 2, 607636 (3) LRP5 603506 {Osteoporosis}, 166710 (3) LRP6 603507 {Coronary artery disease, autosomal dominant, 2}, 610947 (3) LRP8 602600 {Myocardial infarction, susceptibility to}, 608446 (3) LRPPRC 607544 Leigh syndrome, French-Canadian type, 220111 (3) LRRC8A 608360 Agammaglobulinemia 5, 613506 (3) LRRK2 609007 Parkinson disease-8, 607060 (3) LRSAM1 610933 Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3) LRTOMT 612414 Deafness, autosomal recessive 63, 611451 (3) LTA 153440 {Leprosy, susceptibility to, 4}, 610988 (3) LTA 153440 {Myocardial infarction, susceptibility to}, 608446 (3) LTA 153440 {Psoriatic arthritis, susceptibility to}, 607507 (3) LTBP2 602091 Glaucoma 3, primary congenital, D, 613086 (3) LTBP3 602090 Tooth agenesis, selective, 6, 613097 (3) LTBP4 604710 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, 613177 (3) LYST 606897 Chediak-Higashi syndrome, 214500 (3) LYZ 153450 Amyloidosis, renal, 105200 (3) LZTS1 606551 Esophageal squamous cell carcinoma, 133239 (3) MAD1L1 602686 Lymphoma, somatic (3) MAD1L1 602686 Prostate cancer, somatic, 176807 (3) MAF 177075 Cataract, pulverulent or cerulean, with or without microcornea (3) MAGT1 300715 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3) MAGT1 300715 Mental retardation, X-linked 95, 300716 (3) MAK 154235 REtinitis pigmentosa 62, 614181 (3) MALT1 604860 MALT lymphoma (3) MAML2 607537 Mucoepidermoid salivary gland carcinoma (3) MAMLD1 300120 Hypospadias 2, X-linked, 300758 (3) MAN1B1 604346 Mental retardation, autosomal recessive 15, 614202 (3) MAN2B1 609458 Mannosidosis, alpha-, types I and II, 248500 (3) MANBA 609489 Mannosidosis, beta, 248510 (3) MAOA 309850 Brunner syndrome, 300615 (3) MAP2K1 176872 Cardiofaciocutaneous syndrome, 115150 (3) MAP2K2 601263 Cardiofaciocutaneous syndrome, 115150 (3) MAP3K1 600982 46XY sex reversal 6, 613762 (3) MAP3K8 191195 Lung cancer, somatic, 211980 (3) MAPK10 602897 Epileptic encephalopathy, Lennox-Gastaut type, 606369 (3) MAPK8IP1 604641 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) MAPT 157140 Dementia, frontotemporal, with or without parkinsonism, 600274 (3) MAPT 157140 Pick disease, 172700 (3) MAPT 157140 Supranuclear palsy, progressive atypical, 260540 (3) MAPT 157140 Supranuclear palsy, progressive, 601104 (3) MAPT 157140 Tauopathy and respiratory failure (3) MAPT 157140 {Parkinson disease, susceptibility to}, 168600 (3) MARVELD2 610572 Deafness, autosomal recessive 49, 610153 (3) MASP2 605102 MASP2 deficiency, 613791 (3) MASTL 608221 Thrombocytopenia-2, 188000 (3) MAT1A 610550 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3) MAT1A 610550 Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3) MATN3 602109 Epiphyseal dysplasia, multiple, 5, 607078 (3) MATN3 602109 Spondyloepimetaphyseal dysplasia, 608728 (3) MATN3 602109 {Osteoarthritis susceptibility 2}, 140600 (3) MATR3 164015 Myopathy, distal 2, 606070 (3) MAX 154950 {Pheochromocytoma, susceptibility to}, 171300 (3) MBD5 611472 Mental retardation, autosomal dominant 1, 156200 (3) MBL2 154545 {Chronic infections, due to MBL deficiency}, 614372 (3) MBTPS2 300294 IFAP syndrome with or without BRESHECK syndrome, 308205 (3) MBTPS2 300294 Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3) MC1R 155555 [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3) MC1R 155555 [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3) MC1R 155555 [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3) MC1R 155555 {Melanoma, cutaneous malignant, 5}, 613099 (3) MC1R 155555 {Oculocutaneous albinism, type II, modifier of}, 203200 (3) MC1R 155555 {UV-induced skin damage}, 266300 (3) MC2R 607397 Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) MC3R 155540 {Mycobacterium tuberculosis, protection against}, 607948 (3) MC3R 155540 {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3) MC4R 155541 Obesity, autosomal dominant, 601665 (3) MCC 159350 Colorectal cancer (3) MCCC1 609010 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) MCCC2 609014 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3) MCEE 608419 Methylmalonyl-CoA epimerase deficiency, 251120 (3) MCFD2 607788 Factor V and factor VIII, combined deficiency of, 613625 (3) MCM6 601806 Lactase persistance/nonpersistance, 223100 (3) MCOLN1 605248 Mucolipidosis IV, 252650 (3) MCPH1 607117 Microcephaly, primary autosomal recessive, 1, 251200 (3) MDM2 164785 {Accelerated tumor formation, susceptibility to}, 614401 (3) ME2 154270 {Epilepsy, idiopathic generalized, susceptibility to}, 600669 (3) ME2 154270 {Opioid dependence, susceptibility to}, 610064 (3) MECP2 300005 Angelman syndrome, 105830 (3) MECP2 300005 Encephalopathy, neonatal severe, 300673 (3) MECP2 300005 Mental retardation, X-linked syndromic, Lubs type, 300260 (3) MECP2 300005 Mental retardation, X-linked, syndromic 13, 300055 (3) MECP2 300005 Rett syndrome, 312750 (3) MECP2 300005 Rett syndrome, preserved speech variant, 312750 (3) MECP2 300005 {Autism susceptibility, X-linked 3}, 300496 (3) MED12 300188 Lujan-Fryns syndrome, 309520 (3) MED12 300188 Opitz-Kaveggia syndrome, 305450 (3) MED13L 608771 Transposition of the great arteries, dextro-looped 1, 608808 (3) MED17 603810 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) MED23 605042 Mental retardation, autosomal recessive 18, 614249 (3) MED25 610197 Charcot-Marie-Tooth disease, type 2B2, 605589 (3) MEF2A 600660 {Coronary artery disease, autosomal dominant, 1}, 608320 (3) MEF2C 600662 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3) MEFV 608107 Familial Mediterranean fever, AD, 134610 (3) MEFV 608107 Familial Mediterranean fever, AR, 249100 (3) MEGF10 612453 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia, 614399 (3) MEN1 613733 Adrenal adenoma, somatic (3) MEN1 613733 Angiofibroma, somatic (3) MEN1 613733 Carcinoid tumor of lung (3) MEN1 613733 Lipoma, somatic (3) MEN1 613733 Multiple endocrine neoplasia 1, 131100 (3) MEN1 613733 Parathyroid adenoma, somatic (3) MERTK 604705 Retinitis pigmentosa 38, 613862 (3) MESP2 605195 Spondylocostal dysostosis, autosomal recessive 2, 608681 (3) MET 164860 Hepatocellular carcinoma, childhood type, 114550 (3) MET 164860 Renal cell carcinoma, papillary, familial and somatic, 605074 (3) MET 164860 {Autism suseptibility 9}, 611015 (3) MFN2 608507 Charcot-Marie-Tooth disease, type 2A2, 609260 (3) MFN2 608507 Hereditary motor and sensory neuropathy VI, 601152 (3) MFRP 606227 Microphthalmia, isolated 5, 611040 (3) MFSD8 611124 Ceroid lipofuscinosis, neuronal, 7, 610951 (3) MGAT2 602616 Congenital disorder of glycosylation, type IIa, 212066 (3) MGP 154870 Keutel syndrome, 245150 (3) MIAT 611082 {Myocardial infarction, susceptibility to}, 608446 (3) MID1 300552 Opitz GBBB syndrome, type I, 300000 (3) MIF 153620 {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3) MINPP1 605391 Thyroid carcinoma, follicular, 188470 (3) MIP 154050 Cataract, polymorphic and lamellar, 604219 (3) MIR17HG 609415 Feingold syndrome 2, 614326 (3) MIR184 613146 Keratoconus with cataract, 614303 (3) MIR2861 613405 [Bone mineral density QTL 15], 613418 (3) MIR96 611606 Deafness, autosomal dominant 50, 613074 (3) MITF 156845 Tietz albinism-deafness syndrome, 103500 (3) MITF 156845 Waardenburg syndrome, type 2A, 193510 (3) MITF 156845 Waardenburg syndrome/ocular albinism, digenic, 103470 (3) MKKS 604896 Bardet-Biedl syndrome 6, 209900 (3) MKKS 604896 McKusick-Kaufman syndrome, 236700 (3) MKL1 606078 Megakaryoblastic leukemia, acute (3) MKS1 609883 Bardet-Biedl syndrome 13, 209900 (3) MKS1 609883 Meckel syndrome, type 1, 249000 (3) MLC1 605908 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) MLH1 120436 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3) MLH1 120436 Mismatch repair cancer syndrome, 276300 (3) MLH1 120436 Muir-Torre syndrome, 158320 (3) MLH3 604395 Colon cancer, hereditary nonpolyposis, type 7, 614385 (3) MLH3 604395 Colorectal cancer, somatic, 114500 (3) MLH3 604395 Endometrial cancer, 608089 (3) MLL2 602113 Kabuki syndrome 1, 147920 (3) MLLT10 602409 Leukemia, acute T-cell lymphoblastic (3) MLLT10 602409 Leukemia, acute myeloid, 601626 (3) MLLT11 604684 Leukemia, acute myelomonocytic (3) MLPH 606526 Griscelli syndrome, type 3, 609227 (3) MLYCD 606761 Malonyl-CoA decarboxylase deficiency, 248360 (3) MMAA 607481 Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) MMAB 607568 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) MMACHC 609831 Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) MMADHC 611935 Homocystinuria, cblD type, variant 1, 277410 (3) MMADHC 611935 Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) MMADHC 611935 Methylmalonic aciduria, cblD type, variant 2, 277410 (3) MMP1 120353 COPD, rate of decline of lung function in, 606963 (3) MMP1 120353 {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3) MMP13 600108 Metaphyseal anadysplasia 1, 602111 (3) MMP13 600108 Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3) MMP2 120360 Torg-Winchester syndrome, 259600 (3) MMP20 604629 Amelogenesis imperfecta, type IIA2, 612529 (3) MMP3 185250 {Coronary heart disease, susceptibility to, 6}, 614466 (3) MMP9 120361 Metaphyseal anadysplasia 2, 613073 (3) MN1 156100 Meningioma, 607174 (3) MNX1 142994 Currarino syndrome, 176450 (3) MOCS1 603707 Molybdenum cofactor deficiency, type A, 252150 (3) MOCS2 603708 Molybdenum cofactor deficiency, type B, 252150 (3) MOG 159465 Narcolepsy 7, 614250 (3) MOGS 601336 Congenital disorder of glycosylation, type IIb, 606056 (3) MPDU1 604041 Congenital disorder of glycosylation, type If, 609180 (3) MPI 154550 Congenital disorder of glycosylation, type Ib, 602579 (3) MPL 159530 Myelofibrosis with myeloid metaplasia, somatic, 254450 (3) MPL 159530 Thrombocythemia 2, 601977 (3) MPL 159530 Thrombocytopenia, congenital amegakaryocytic, 604498 (3) MPLKIP 609188 Trichothiodystrophy, nonphotosensitive 1, 234050 (3) MPO 606989 Myeloperoxidase deficiency, 254600 (3) MPO 606989 {Alzheimer disease, susceptibility to}, 104300 (3) MPO 606989 {Lung cancer, protection against, in smokers} (3) MPV17 137960 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) MPZ 159440 Charcot-Marie-Tooth disease, dominant intermediate 3, 607791 (3) MPZ 159440 Charcot-Marie-Tooth disease, type 1B, 118200 (3) MPZ 159440 Charcot-Marie-Tooth disease, type 2I, 607677 (3) MPZ 159440 Charcot-Marie-Tooth disease, type 2J, 607736 (3) MPZ 159440 Dejerine-Sottas disease, 145900 (3) MPZ 159440 Neuropathy, congenital hypomyelinating, 605253 (3) MPZ 159440 Roussy-Levy syndrome, 180800 (3) MRAP 609196 Glucocorticoid deficiency 2, 607398 (3) MRE11A 600814 Ataxia-telangiectasia-like disorder, 604391 (3) MRPS16 609204 Combined oxidative phosphorylation deficiency 2, 610498 (3) MRPS22 605810 Combined oxidative phosphorylation deficiency 5, 611719 (3) MRT9 611095 Mental retardation, autosomal recessive, 9/26 (3) MS4A1 112210 Immunodeficiency, common variable, 5, 613495 (3) MS4A2 147138 {Atopy, susceptibility to}, 147050 (3) MSH2 609309 Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3) MSH2 609309 Mismatch repair cancer syndrome, 276300 (3) MSH2 609309 Muir-Torre syndrome, 158320 (3) MSH3 600887 Endometrial carcinoma (3) MSH6 600678 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3) MSH6 600678 Endometrial cancer, familial, 608089 (3) MSH6 600678 Mismatch repair cancer syndrome, 276300 (3) MSMB 157145 {Prostate cancer, hereditary, 13}, 611928 (3) MSR1 153622 Barrett esophagus/esophageal adenocarcinoma, 614266 (3) MSR1 153622 Prostate cancer, hereditary, 176807 (3) MSRB3 613719 Deafness, autosomal recessive 74, 613718 (3) MSTN 601788 Muscle hypertrophy, 614160 (3) MSX1 142983 Orofacial cleft 5, 608874 (3) MSX1 142983 Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3) MSX1 142983 Witkop syndrome, 189500 (3) MSX2 123101 Craniosynostosis, type 2, 604757 (3) MSX2 123101 Parietal foramina 1, 168500 (3) MSX2 123101 Parietal foramina with cleidocranial dysplasia, 168550 (3) MTHFD1 172460 {Abruptio placentae, susceptibility to} (3) MTHFD1 172460 {Spina bifida, folate-sensitive, susceptibility to}, 601634 (3) MTHFR 607093 Homocystinuria due to MTHFR deficiency, 236250 (3) MTHFR 607093 {Neural tube defects, susceptibility to}, 601634 (3) MTHFR 607093 {Schizophrenia, susceptibility to}, 181500 (3) MTHFR 607093 {Thromboembolism, susceptibility to}, 188050 (3) MTHFR 607093 {Vascular disease, susceptibility to} (3) MTM1 300415 Myotubular myopathy, X-linked, 310400 (3) MTMR14 611089 {Centronuclear myopathy, autosomal, modifier of}, 160150 (3) MTMR2 603557 Charcot-Marie-Tooth disease, type 4B1, 601382 (3) MTNR1B 600804 {Diabetes mellitus, type 2, susceptiblity to}, 125853 (3) MTPAP 613669 Ataxia, spastic, 4, 613672 (3) MTR 156570 Methylcobalamin deficiency, cblG type, 250940 (3) MTR 156570 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) MTRR 602568 Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) MTRR 602568 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) MTTP 157147 Abetalipoproteinemia, 200100 (3) MTTP 157147 {Metabolic syndrome, protection against}, 605552 (3) MUC5B 600770 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) MUC7 158375 {Asthma, protection against}, 600807 (3) MUSK 601296 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) MUT 609058 Methylmalonic aciduria, mut(0) type, 251000 (3) MUTYH 604933 Adenomas, multiple colorectal, 608456 (3) MUTYH 604933 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3) MUTYH 604933 Gastric cancer, somatic, 137215 (3) MVK 251170 Hyper-IgD syndrome, 260920 (3) MVK 251170 Mevalonic aciduria, 610377 (3) MXI1 600020 Neurofibrosarcoma (3) MXI1 600020 {Prostate cancer, susceptibility to}, 176807 (3) MYB 189990 {T-cell acute lymphoblastic leukemia} (3) MYBPC1 160794 Arthrogryposis, distal, type 1B, 614335 (3) MYBPC3 600958 ?Cardiomyopathy, dilated, 115200 (3) MYBPC3 600958 Cardiomyopathy, familial hypertrophic, 4, 115197 (3) MYC 190080 Burkitt lymphoma, 113970 (3) MYCN 164840 Feingold syndrome, 164280 (3) MYD88 602170 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) MYF6 159991 Myopathy, centronuclear, 3, 614408 (3) MYH11 160745 Aortic aneurysm, familial thoracic 4, 132900 (3) MYH14 608568 Deafness, autosomal dominant 4, 600652 (3) MYH14 608568 Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3) MYH2 160740 Inclusion body myopathy-3, 605637 (3) MYH3 160720 Arthrogryposis, distal, type 2A, 193700 (3) MYH3 160720 Arthrogryposis, distal, type 2B, 601680 (3) MYH6 160710 Atrial septal defect 3, 614089 (3) MYH6 160710 Cardiomyopathy, dilated, 1EE, 613252 (3) MYH6 160710 Cardiomyopathy, familial hypertrophic, 14, 613251 (3) MYH6 160710 {Sick sinus syndrome 3}, 614090 (3) MYH7 160760 Cardiomyopathy, dilated, 1S, 613426 (3) MYH7 160760 Cardiomyopathy, familial hypertrophic, 1, 192600 (3) MYH7 160760 Laing distal myopathy, 160500 (3) MYH7 160760 Left ventricular noncompaction 5, 613426 (3) MYH7 160760 Myopathy, myosin storage, 608358 (3) MYH7 160760 Scapuloperoneal syndrome, myopathic type, 181430 (3) MYH8 160741 Carney complex variant, 608837 (3) MYH8 160741 Trismus-pseudocamptodactyly syndrome, 158300 (3) MYH9 160775 Deafness, autosomal dominant 17, 603622 (3) MYH9 160775 Epstein syndrome, 153650 (3) MYH9 160775 Fechtner syndrome, 153640 (3) MYH9 160775 Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3) MYH9 160775 May-Hegglin anomaly, 155100 (3) MYH9 160775 Sebastian syndrome, 605249 (3) MYL2 160781 Cardiomyopathy, familial hypertrophic, 10, 608758 (3) MYL3 160790 Cardiomyopathy, familial hypertrophic, 8, 608751 (3) MYLK 600922 Aortic aneurysm, familial thoracic 7, 613780 (3) MYLK2 606566 Cardiomyopathy, hypertrophic, midventricular, digenic, 192600 (3) MYMY3 608796 Moyamoya disease 3 (3) MYO15A 602666 Deafness, autosomal recessive 3, 600316 (3) MYO1A 601478 Deafness, autosomal dominant 48, 607841 (3) MYO1E 601479 Glomerulosclerosis, focal segmental, 6, 614131 (3) MYO3A 606808 Deafness, autosomal recessive 30, 607101 (3) MYO5A 160777 Griscelli syndrome, type 1, 214450 (3) MYO5B 606540 Microvillus inclusion disease, 251850 (3) MYO6 600970 Deafness, autosomal dominant 22, 606346 (3) MYO6 600970 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3) MYO6 600970 Deafness, autosomal recessive 37, 607821 (3) MYO7A 276903 Deafness, autosomal dominant 11, 601317 (3) MYO7A 276903 Deafness, autosomal recessive 2, 600060 (3) MYO7A 276903 Usher syndrome, type 1B, 276900 (3) MYO9B 602129 {Celiac disease, susceptibility to, 4}, 609753 (3) MYOC 601652 Glaucoma 1A, primary open angle, juvenile-onset, 137750 (3) MYOC 601652 Glaucoma 1A, primary open angle, recessive (3) MYOC 601652 Glaucoma, early-onset, digenic (3) MYOT 604103 Muscular dystrophy, limb-girdle, type 1A, 159000 (3) MYOT 604103 Myopathy, spheroid body, 182920 (3) MYOT 604103 Myotilinopathy, 609200 (3) MYOZ2 605602 Cardiomyopathy, familial hypertrophic, 16, 613838 (3) NAA10 300013 N-terminal acetyltransferase deficiency, 300855 (3) NAGA 104170 Kanzaki disease, 609242 (3) NAGA 104170 Schindler disease, type I, 609241 (3) NAGA 104170 Schindler disease, type III, 609241 (3) NAGLU 609701 Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) NAGS 608300 N-acetylglutamate synthase deficiency, 237310 (3) NAT2 612182 [Acetylation, slow], 243400 (3) NAT8L 610647 N-acetylaspartate deficiency, 614063 (3) NBEAL2 614169 Gray platelet syndrome, 139090 (3) NBEAP1 601889 Lymphoma, diffuse large cell (3) NBN 602667 Leukemia, acute lymphoblastic (3) NBN 602667 Nijmegen breakage syndrome, 251260 (3) NCF1 608512 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) NCF2 608515 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) NCF4 601488 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3) NCOA4 601984 Thyroid carcinoma, papillary, 188550 (3) NCR3 611550 {Malaria, mild, susceptibility to}, 609148 (3) NCSTN 605254 Acne inversa, familial, 1, 142690 (3) NDE1 609449 Lissencephaly 4 (with microcephaly), 614019 (3) NDN 602117 Prader-Willi syndrome, 176270 (3) NDP 300658 Exudative vitreoretinopathy, X-linked, 305390 (3) NDP 300658 Norrie disease, 310600 (3) NDRG1 605262 Charcot-Marie-Tooth disease, type 4D, 601455 (3) NDUFA1 300078 Mitochondrial complex I deficiency, 252010 (3) NDUFA10 603835 Leigh syndrome, 256000 (3) NDUFA11 612638 Mitochondrial complex I deficiency, 252010 (3) NDUFA12 614530 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) NDUFA13 609435 {Thyroid carcinoma, Hurthle cell}, 607464 (3) NDUFA2 602137 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) NDUFA9 603834 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) NDUFAF1 606934 Mitochondrial complex I deficiency, 252010 (3) NDUFAF2 609653 Leigh syndrome, 256000 (3) NDUFAF2 609653 Mitochondrial complex I deficiency, 252010 (3) NDUFAF3 612911 Mitochondrial complex I deficiency, 252010 (3) NDUFAF4 611776 Mitochondrial complex I deficiency, 252010 (3) NDUFB3 603839 Mitochondrial complex I deficiency, 252010 (3) NDUFS1 157655 Mitochondrial complex I deficiency, 252010 (3) NDUFS2 602985 Mitochondrial complex I deficiency, 252010 (3) NDUFS3 603846 Leigh syndrome, 256000 (3) NDUFS4 602694 Leigh syndrome, 256000 (3) NDUFS4 602694 Mitochondrial complex I deficiency, 252010 (3) NDUFS6 603848 Complex I, mitochondrial respiratory chain, deficiency of, 252010 (3) NDUFS7 601825 Leigh syndrome, 256000 (3) NDUFS8 602141 Leigh syndrome, 256000 (3) NDUFV1 161015 Mitochondrial complex I deficiency, 252010 (3) NDUFV2 600532 Mitochondrial complex I deficiency, 252010 (3) NEB 161650 Nemaline myopathy 2, autosomal recessive, 256030 (3) NEFH 162230 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) NEFL 162280 Charcot-Marie-Tooth disease, type 1F, 607734 (3) NEFL 162280 Charcot-Marie-Tooth disease, type 2E, 607684 (3) NEK1 604588 Short rib-polydactyly syndorme, type II, 263520 (3) NEK8 609799 Nephronophthisis 9, 613824 (3) NELF 608137 Hypogonadotropic hypogonadism, 146110 (3) NEU1 608272 Sialidosis, type I, 256550 (3) NEU1 608272 Sialidosis, type II, 256550 (3) NEUROD1 601724 Maturity-onset diabetes of the young 6, 606394 (3) NEUROD1 601724 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) NEUROG3 604882 Diarrhea 4, malabsorptive, congenital, 610370 (3) NEXN 613121 Cardiomyopathy, dilated, 1CC, 613122 (3) NEXN 613121 Cardiomyopathy, familial hypertrophic, 20, 613876 (3) NF1 613113 Leukemia, juvenile myelomonocytic, 607785 (3) NF1 613113 Neurofibromatosis, familial spinal, 162210 (3) NF1 613113 Neurofibromatosis, type 1, 162200 (3) NF1 613113 Neurofibromatosis-Noonan syndrome, 601321 (3) NF1 613113 Watson syndrome, 193520 (3) NF2 607379 Meningioma, NF2-related, somatic, 607174 (3) NF2 607379 Neurofibromatosis, type 2, 101000 (3) NF2 607379 Schwannomatosis, 162091 (3) NFKBIA 164008 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3) NFKBIL1 601022 {Rheumatoid arthritis, susceptibility to}, 180300 (3) NFU1 608100 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) NGF 162030 Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) NHEJ1 611290 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) NHLRC1 608072 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) NHP2 606470 Dyskeratosis congenita, autosomal recessive 2, 613987 (3) NHS 300457 Cataract, congenital, X-linked, 302200 (3) NHS 300457 Nance-Horan syndrome, 302350 (3) NIPA1 608145 Spastic paraplegia-6, 600363 (3) NIPAL4 609383 Ichthyosis, congenital, autosomal recessive, 612281 (3) NIPBL 608667 Cornelia de Lange syndrome 1, 122470 (3) NKX2-1 600635 Chorea, hereditary benign, 118700 (3) NKX2-1 600635 Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3) NKX2-5 600584 Atrial septal defect 7, with or without AV conduction defects, 108900 (3) NKX2-5 600584 Atrioventricular block, second-degree (3) NKX2-5 600584 Conotruncal heart malformations, variable, 217095 (3) NKX2-5 600584 Hypoplastic left heart syndrome 2, 614435 (3) NKX2-5 600584 Hypothyroidism, congenital nongoitrous, 5, 225250 (3) NKX2-5 600584 Tetrology of Fallot, 187500 (3) NKX2-5 600584 Ventricular septal defect 3, 614432 (3) NKX2-6 611770 Persistent truncus arteriosus, 217095 (3) NKX3-2 602183 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3) NLGN3 300336 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3) NLGN3 300336 {Autism susceptibility, X-linked 1}, 300425 (3) NLGN4X 300427 Mental retardation, X-linked, 300495 (3) NLGN4X 300427 {Asperger syndrome susceptibility, X-linked 2}, 300497 (3) NLGN4X 300427 {Autism susceptibility, X-linked 2}, 300495 (3) NLRP1 606636 {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) NLRP12 609648 Familial cold autoinflammatory syndrome 2, 611762 (3) NLRP3 606416 CINCA syndrome, 607115 (3) NLRP3 606416 Cold-induced autoinflammatory syndrome, familial, 120100 (3) NLRP3 606416 Muckle-Wells syndrome, 191900 (3) NLRP7 609661 Hydatidiform mole, 231090 (3) NME1 156490 Neuroblastoma, 256700 (3) NOBOX 610934 Premature ovarian failure 5, 611548 (3) NOD2 605956 Blau syndrome, 186580 (3) NOD2 605956 Sarcoidosis, early-onset, 609464 (3) NOD2 605956 {Inflammatory bowel disease 1}, 266600 (3) NOD2 605956 {Psoriatic arthritis, susceptibility to}, 607507 (3) NODAL 601265 Heterotaxy, visceral, 5, 270100 (3) NOG 602991 Brachydactyly, type B2, 611377 (3) NOG 602991 Multiple synostosis syndrome 1, 186500 (3) NOG 602991 Stapes ankylosis with broad thumb and toes, 184460 (3) NOG 602991 Symphalangism, proximal, 185800 (3) NOG 602991 Tarsal-carpal coalition syndrome, 186570 (3) NOP10 606471 Dyskeratosis congenita, autosomal recessive 1, 224230 (3) NOP56 614154 Spinocerebellar ataxia 36, 614153 (3) NOS2 163730 {Malaria, resistance to}, 611162 (3) NOS3 163729 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) NOS3 163729 {Coronary artery spasm 1, susceptibility to} (3) NOS3 163729 {Hypertension, pregnancy-induced}, 189800 (3) NOS3 163729 {Hypertension, susceptibility to}, 145500 (3) NOS3 163729 {Ischemic stroke, susceptibility to}, 601367 (3) NOS3 163729 {Placental abruption} (3) NOTCH1 190198 Aortic valve disease, 109730 (3) NOTCH2 600275 Alagille syndrome 2, 610205 (3) NOTCH2 600275 Hajdu-Cheney syndrome, 102500 (3) NOTCH3 600276 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3) NPC1 607623 Niemann-Pick disease, type C1, 257220 (3) NPC1 607623 Niemann-Pick disease, type D, 257220 (3) NPC1L1 608010 [Ezetimibe, nonresponse to] (3) NPC2 601015 Niemann-pick disease, type C2, 607625 (3) NPHP1 607100 Joubert syndrome 4, 609583 (3) NPHP1 607100 Nephronophthisis 1, juvenile, 256100 (3) NPHP1 607100 Senior-Loken syndrome-1, 266900 (3) NPHP3 608002 Meckel syndrome 7, 267010 (3) NPHP3 608002 Nephronophthisis 3, 604387 (3) NPHP3 608002 Renal-hepatic-pancreatic dysplasia, 208540 (3) NPHP4 607215 Nephronophthisis 4, 606966 (3) NPHP4 607215 Senior-Loken syndrome 4, 606996 (3) NPHS1 602716 Nephrotic syndrome, type 1, 256300 (3) NPHS2 604766 Nephrotic syndrome, type 2, 600995 (3) NPM1 164040 Leukemia, acute myeloid, 601626 (3) NPM1 164040 Leukemia, acute promyelocytic, NPM/RARA type (3) NPPA 108780 Atrial fibrillation, familial, 6, 612201 (3) NPR2 108961 Acromesomelic dysplasia, Maroteaux type, 602875 (3) NPSR1 608595 {Asthma, susceptibility to, 2}, 608584 (3) NQO1 125860 {Benzene toxicity, susceptibility to} (3) NQO1 125860 {Breast cancer, poor survival after chemotherapy for} (3) NQO1 125860 {Leukemia, post-chemotherapy, susceptibility to} (3) NR0B1 300473 46XY sex reversal 2, dosage-sensitive, 300018 (3) NR0B1 300473 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 (3) NR0B2 604630 Obesity, mild, early-onset, 601665 (3) NR2E3 604485 Enhanced S-cone syndrome, 268100 (3) NR2E3 604485 Retinitis pigmentosa 37, 611131 (3) NR3C1 138040 Cortisol resistance (3) NR3C2 600983 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) NR3C2 600983 Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3) NR4A3 600542 Chondrosarcoma, extraskeletal myxoid, 612237 (3) NR5A1 184757 46XY sex reversal 3, 612965 (3) NR5A1 184757 Adrenocortical insufficiency (3) NR5A1 184757 Premature ovarian failure 7, 612964 (3) NR5A1 184757 Spermatogenic failure 8, 613957 (3) NRAS 164790 Autoimmune lymphoproliferative syndrome type IV, 614470 (3) NRAS 164790 Colorectal cancer, 114500 (3) NRAS 164790 Noonan syndrome 6, 613224 (3) NRAS 164790 Thyroid carcinoma, follicular, 188470 (3) NRL 162080 Retinal degeneration, autosomal recessive, clumped pigment type (3) NRL 162080 Retinitis pigmentosa 27, 613750 (3) NRXN1 600565 Pitt-Hopkins-like syndrome 2, 614325 (3) NRXN1 600565 {Schizophrenia, susceptibility to, 17}, 614332 (3) NSD1 606681 Beckwith-Wiedemann syndrome, 130650 (3) NSD1 606681 Sotos syndrome, 117550 (3) NSD1 606681 Weaver syndrome, 277590 (3) NSDHL 300275 CHILD syndrome, 308050 (3) NSDHL 300275 CK syndrome, 300831 (3) NT5C3 606224 Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3) NT5E 129190 Calcification of joints and arteries, 211800 (3) NTF4 162662 Glaucoma 1, open angle, 1O, 613100 (3) NTRK1 191315 Insensitivity to pain, congenital, with anhidrosis, 256800 (3) NTRK1 191315 Medullary thyroid carcinoma, familial, 155240 (3) NTRK2 600456 Obesity, hyperphagia, and developmental delay, 613886 (3) NUBPL 613621 Mitochondrial complex I deficiency, 252010 (3) NUMA1 164009 Leukemia, acute promyelocytic, NUMA/RARA type (3) NUP214 114350 Leukemia, T-cell acute lymphoblastic (3) NUP214 114350 Leukemia, acute myeloid, 601626 (3) NUP62 605815 Striatonigral degeneration, infantile, 271930 (3) NYX 300278 Night blindness, congenital stationary, type 1A, 310500 (3) OAS1 164350 {Diabetes mellitus, type 1, susceptibility to}, 222100 (3) OAS1 164350 {Viral infection, susceptibility to} (3) OAT 613349 Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3) OBSL1 610991 3-M syndrome 2, 612921 (3) OCA2 611409 Albinism, brown oculocutaneous, 203200 (3) OCA2 611409 Albinism, oculocutaneous, type II, 203200 (3) OCA2 611409 [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) OCA2 611409 [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3) OCLN 602876 Band-like calcification with simplified gyration and polymicrogyria, 251290 (3) OCRL 300535 Dent disease 2, 300555 (3) OCRL 300535 Lowe syndrome, 309000 (3) ODC1 165640 {Colonic adenoma recurrence, reduced risk of}, 114500 (3) OFD1 300170 Joubert syndrome 10, 300804 (3) OFD1 300170 Oral-facial-digital syndrome 1, 311200 (3) OFD1 300170 Simpson-Golabi-Behmel syndrome, type 2, 300209 (3) OGG1 601982 Renal cell carcinoma, clear cell, somatic, 144700 (3) OLR1 602601 {Myocardial infarction, susceptibility to}, 608446 (3) OPA1 605290 Optic atrophy 1, 165500 (3) OPA1 605290 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, 125250 (3) OPA1 605290 {Glaucoma, normal tension, susceptibility to}, 606657 (3) OPA3 606580 3-methylglutaconic aciduria, type III, 258501 (3) OPA3 606580 Optic atrophy 3 with cataract, 165300 (3) OPCML 600632 {Ovarian cancer, somatic}, 167000 (3) OPHN1 300127 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) OPLAH 614243 5-oxoprolinase deficiency, 260005 (3) OPN1LW 300822 Blue cone monochromacy, 303700 (3) OPN1LW 300822 Colorblindness, protan, 303900 (3) OPN1MW 300821 Blue cone monochromacy, 303700 (3) OPN1MW 300821 Colorblindness, deutan, 303800 (3) OPN1SW 613522 Colorblindness, tritan, 190900 (3) OPTN 602432 Amyotrophic lateral sclerosis 12, 613435 (3) OPTN 602432 Glaucoma 1, open angle, E, 137760 (3) OPTN 602432 {Glaucoma, normal tension, susceptibility to}, 606657 (3) ORAI1 610277 Immune dysfunction with T-cell inactivation due to calcium entry defect 1, 612782 (3) ORC1 601902 Meier-Gorlin syndrome 1, 224690 (3) ORC4 603056 Meier-Gorlin syndrome 2, 613800 (3) ORC6 607213 Meier-Gorlin syndrome 3, 613803 (3) OSMR 601743 Amyloidosis, primary localized cutaneous, 1, 105250 (3) OSTM1 607649 Osteopetrosis, autosomal recessive 5, 259720 (3) OTC 300461 Ornithine transcarbamylase deficiency, 311250 (3) OTOA 607038 Deafness, autosomal recessive 22, 607039 (3) OTOF 603681 Auditory neuropathy, autosomal recessive, 1, 601071 (3) OTOF 603681 Deafness, autosomal recessive 9, 601071 (3) OTX2 600037 Microphthalmia, syndromic 5, 610125 (3) OTX2 600037 Pituitary hormone deficiency, combined, 6, 613986 (3) OTX2 600037 Retinal dystrophy, early-onset, and pituitary dysfunction, 610125 (3) OXCT1 601424 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3) P2RX1 600845 Bleeding disorder due to P2RX1 defect (3) P2RY12 600515 Bleeding disorder, platelet-type, 8, 609821 (3) PABPN1 602279 Oculopharyngeal muscular dystrophy, 164300 (3) PADI4 605347 {Rheumatoid arthritis, susceptibility to}, 180300 (3) PAFAH1B1 601545 Lissencephaly 1, 607432 (3) PAFAH1B1 601545 Subcortical laminar heterotopia, 607432 (3) PAH 612349 Phenylketonuria, 261600 (3) PAH 612349 [Hyperphenylalaninemia, non-PKU mild], 261600 (3) PAK3 300142 Mental retardation, X-linked 30/47, 300558 (3) PALB2 610355 Fanconi anemia, complementation group N, 610832 (3) PALB2 610355 {Breast cancer, susceptibility to}, 114480 (3) PALB2 610355 {Pancreatic cancer, susceptibility to, 3}, 613348 (3) PALLD 608092 {Pancreatic cancer, susceptibility to, 1}, 606856 (3) PANK2 606157 HARP syndrome, 607236 (3) PANK2 606157 Neurodegeneration with brain iron accumulation 1, 234200 (3) PAPSS2 603005 SEMD, Pakistani type, 612847 (3) PARK2 602544 Adenocarcinoma of lung, somatic, 211980 (3) PARK2 602544 Adenocarcinoma, ovarian, somatic, 167000 (3) PARK2 602544 Parkinson disease, juvenile, type 2, 600116 (3) PARK2 602544 {Leprosy, susceptibility to}, 607572 (3) PARK7 602533 Amyotrophic lateral sclerosis-Parkinsonism/dementia complex 2 (3) PARK7 602533 Parkinson disease 7, autosomal recessive early-onset, 606324 (3) PAX2 167409 Optic nerve coloboma with renal disease, 120330 (3) PAX2 167409 Renal hypoplasia, isolated (3) PAX3 606597 Craniofacial-deafness-hand syndrome, 122880 (3) PAX3 606597 Rhabdomyosarcoma 2, alveolar, 268220 (3) PAX3 606597 Waardenburg syndrome, type 1, 193500 (3) PAX3 606597 Waardenburg syndrome, type 3, 148820 (3) PAX4 167413 Diabetes mellitus, ketosis-prone, 612227 (3) PAX4 167413 Diabetes mellitus, type 2, 125853 (3) PAX4 167413 Maturity-onset diabetes of the young, type IX, 612225 (3) PAX6 607108 Aniridia, 106210 (3) PAX6 607108 Cataract with late-onset corneal dystrophy, 604219 (3) PAX6 607108 Coloboma of optic nerve, 120430 (3) PAX6 607108 Coloboma, ocular, 120200 (3) PAX6 607108 Foveal hyperplasia, 136520 (3) PAX6 607108 Gillespie syndrome, 206700 (3) PAX6 607108 Keratitis, 148190 (3) PAX6 607108 Morning glory disc anomaly, 120430 (3) PAX6 607108 Optic nerve hypoplasia, 165550 (3) PAX6 607108 Peters anomaly, 604229 (3) PAX7 167410 Rhabdomyosarcoma 2, alveolar, 268220 (3) PAX8 167415 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3) PAX9 167416 Tooth agenesis, selective, 3, 604625 (3) PAXIP1 608254 {Alzheimer disease, susceptibility to}, 104300 (3) PCBD1 126090 Hyperphenylalaninemia, BH4-deficient, D, 264070 (3) PCCA 232000 Propionicacidemia, 606054 (3) PCCB 232050 Propionicacidemia, 606054 (3) PCDH15 605514 Deafness, autosomal recessive 23, 609533 (3) PCDH15 605514 Usher syndrome, type 1D/F digenic, 601067 (3) PCDH15 605514 Usher syndrome, type 1F, 602083 (3) PCDH19 300460 Epileptic encephalopathy, early infantile, 9, 300088 (3) PCM1 600299 Thyroid carcinoma, papillary, 188550 (3) PCNT 605925 Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) PCSK1 162150 Obesity with impaired prohormone processing, 600955 (3) PCSK1 162150 {Obesity, susceptibility to, BMIQ12}, 612362 (3) PCSK9 607786 Hypercholesterolemia, familial, 3, 603776 (3) PCSK9 607786 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3) PDCD1 600244 {Multiple sclerosis, disease progression, modifier of}, 126200 (3) PDCD1 600244 {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3) PDCD10 609118 Cerebral cavernous malformations 3, 603285 (3) PDE11A 604961 Pigmented nodular adrenocortical disease, primary, 2, 610475 (3) PDE4D 600129 {Stroke, susceptibility to, 1}, 606799 (3) PDE6A 180071 Retinitis pigmentosa 43, 613810 (3) PDE6B 180072 Night blindness, congenital stationary, autosomal dominant 2, 163500 (3) PDE6B 180072 Retinitis pigmentosa-40, 613801 (3) PDE6C 600827 Cone dystrophy 4, 613093 (3) PDE6G 180073 Retinitis pigmentosa 57, 613582 (3) PDE6H 601190 Retinal cone dystrophy 3, 610024 (3) PDE8B 603390 Pigmented nodular adrenocortical disease, primary, 3, 614190 (3) PDE8B 603390 Striatal degeneration, autosomal dominant, 609161 (3) PDGFB 190040 Dermatofibrosarcoma protuberans (3) PDGFB 190040 Giant-cell fibroblastoma (3) PDGFB 190040 Meningioma, SIS-related (3) PDGFRA 173490 Gastrointestinal stromal tumor, somatic, 606764 (3) PDGFRA 173490 Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3) PDGFRB 173410 Myelomonocytic leukemia, chronic (3) PDGFRB 173410 Myeloproliferative disorder with eosinophilia, 131440 (3) PDGFRL 604584 Colorectal cancer, 114500 (3) PDGFRL 604584 Hepatocellular cancer, 114550 (3) PDHA1 300502 Leigh syndrome, X-linked, 308930 (3) PDHA1 300502 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3) PDHB 179060 Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) PDHX 608769 Lacticacidemia due to PDX1 deficiency, 245349 (3) PDLIM4 603422 {Osteoporosis, susceptibility to}, 166710 (3) PDP1 605993 Pyruvate dehydrogenase phosphatase deficiency, 608782 (3) PDSS1 607429 Coenzyme Q10 deficiency, 607426 (3) PDSS2 610564 Coenzyme Q10 deficiency, 607426 (3) PDX1 600733 MODY, type IV, 606392 (3) PDX1 600733 Pancreatic agenesis, 260370 (3) PDX1 600733 {Diabetes mellitus, type II, susceptibility to}, 125853 (3) PDYN 131340 Spinocerebellar ataxia 23, 610245 (3) PDZD7 612971 Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3) PDZD7 612971 {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3) PEPD 613230 Prolidase deficiency, 170100 (3) PER2 603426 Advanced sleep phase syndrome, familial, 604348 (3) PEX1 602136 Adrenoleukodystrophy, neonatal, 202370 (3) PEX1 602136 Refsum disease, infantile, 266510 (3) PEX1 602136 Zellweger syndrome-1, 214100 (3) PEX10 602859 Adrenoleukodystrophy, neonatal, 202370 (3) PEX10 602859 Zellweger syndrome, 214100 (3) PEX12 601758 Peroxisome biogenesis factor 12 (3) PEX13 601789 Adrenoleukodystrophy, neonatal, 202370 (3) PEX13 601789 Zellweger syndrome, 214100 (3) PEX14 601791 Zellweger syndrome, 214100 (3) PEX16 603360 Zellweger syndrome, complementation group 9 (3) PEX19 600279 Zellweger syndrome, 214100 (3) PEX2 170993 Refsum disease, infantile, 266510 (3) PEX2 170993 Zellweger syndrome-3 (3) PEX26 608666 Adrenoleukodystrophy, neonatal, 202370 (3) PEX26 608666 Refsum disease, infantile, 266510 (3) PEX26 608666 Zellweger syndrome, 214100 (3) PEX3 603164 Zellweger syndrome, complementation group G, 214100 (3) PEX5 600414 Adrenoleukodystrophy, neonatal, 202370 (3) PEX5 600414 Zellweger syndrome, 214100 (3) PEX6 601498 Peroxisomal biogenesis disorder, complementation group 4 (3) PEX6 601498 Peroxisomal biogenesis disorder, complementation group 6 (3) PEX7 601757 Refsum disease, 266500 (3) PEX7 601757 Rhizomelic chondrodysplasia punctata, type 1, 215100 (3) PFKM 610681 Glycogen storage disease VII, 232800 (3) PGAM2 612931 Glycogen storage disease X, 261670 (3) PGK1 311800 Phosphoglycerate kinase 1 deficiency, 300653 (3) PGM1 171900 Glycogen storage disease XIV, 612934 (3) PHB 176705 {Breast cancer, susceptibility to}, 114480 (3) PHEX 300550 Hypophosphatemic rickets, X-linked dominant, 307800 (3) PHF11 607796 [IgE levels QTL], 147050 (3) PHF11 607796 {Asthma}, 600807 (3) PHF6 300414 Borjeson-Forssman-Lehmann syndrome, 301900 (3) PHF8 300560 Mental retardation syndrome, X-linked, Siderius type, 300263 (3) PHGDH 606879 Phosphoglycerate dehydrogenase deficiency, 601815 (3) PHKA1 311870 Muscle glycogenosis, 300559 (3) PHKA2 300798 Glycogen storage disease, type IXa1, 306000 (3) PHKA2 300798 Glycogen storage disease, type IXa2, 306000 (3) PHKB 172490 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3) PHKG2 172471 Cirrhosis due to liver phosphorylase kinase deficiency (3) PHKG2 172471 Glycogen storage disease IXc, 613027 (3) PHOX2A 602753 Fibrosis of extraocular muscles, congenital, 2, 602078 (3) PHOX2B 603851 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3) PHOX2B 603851 Neuroblastoma with Hirschsprung disease, 613013 (3) PHOX2B 603851 {Neuroblastoma, susceptibility to, 2}, 613013 (3) PHYH 602026 Refsum disease, 266500 (3) PICALM 603025 Leukemia, acute T-cell lymphoblastic (3) PICALM 603025 Leukemia, acute myeloid, 601626 (3) PIGA 311770 Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) PIGA 311770 Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3) PIGM 610273 Glycosylphosphatidylinositol deficiency, 610293 (3) PIGN 606097 Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) PIGV 610274 Mabry syndrome, 239300 (3) PIK3CA 171834 Breast cancer, somatic, 114480 (3) PIK3CA 171834 Colorectal cancer, somatic, 114500 (3) PIK3CA 171834 Gastric cancer, somatic, 137215 (3) PIK3CA 171834 Hepatocellular carcinoma, somatic, 114550 (3) PIK3CA 171834 Keratosis, seborrheic, somatic, 182000 (3) PIK3CA 171834 Nevus, epidermal, 162900 (3) PIK3CA 171834 Nonsmall cell lung cancer, somatic, 211980 (3) PIK3CA 171834 Ovarian cancer, somatic, 167000 (3) PIKFYVE 609414 Corneal fleck dystrophy, 121850 (3) PINK1 608309 Parkinson disease 6, early onset, 605909 (3) PIP5K1C 606102 Lethal congenital contractural syndrome 3, 611369 (3) PITPNM3 608921 Cone-rod dystrophy 5, 600977 (3) PITX1 602149 Clubfoot, congenital, 119800 (3) PITX2 601542 Axenfeld-Rieger syndrome, type 1, 180500 (3) PITX2 601542 Iridogoniodysgenesis, type 2, 137600 (3) PITX2 601542 Peters anomaly, 604229 (3) PITX2 601542 Ring dermoid of cornea, 180550 (3) PITX3 602669 Anterior segment mesenchymal dysgenesis, 107250 (3) PITX3 602669 Cataract, congenital (3) PITX3 602669 Cataract, posterior polar, 4, 610623 (3) PITX3 602669 Cataract, posterior polar, 4, syndromic, 610623 (3) PKD1 601313 Polycystic kidney disease, adult type I, 173900 (3) PKD2 173910 Polycystic kidney disease 2, 613095 (3) PKHD1 606702 Polycystic kidney and hepatic disease, 263200 (3) PKLR 609712 Adenosine triphosphate, elevated, of erythrocytes, 102900 (3) PKLR 609712 Pyruvate kinase deficiency, 266200 (3) PKP1 601975 Ectodermal dysplasia/skin fragility syndrome, 604536 (3) PKP2 602861 Arrhythmogenic right ventricular dysplasia 9, 609040 (3) PLA2G2A 172411 {Colorectal cancer}, 114500 (3) PLA2G4A 600522 Phospholipase A2, group IV A, deficiency of (3) PLA2G5 601192 Fleck retina, familial benign, 228980 (3) PLA2G6 603604 Infantile neuroaxonal dystrophy 1, 256600 (3) PLA2G6 603604 Karak syndrome, 610217 (3) PLA2G6 603604 Neurodegeneration with brain iron accumulation 2B, 610217 (3) PLA2G6 603604 Parkinson disease 14, 612953 (3) PLA2G7 601690 Platelet-activating factor acetylhydrolase deficiency, 614278 (3) PLA2G7 601690 {Asthma, susceptibility to}, 600807 (3) PLA2G7 601690 {Atopy, susceptibility to}, 147050 (3) PLAG1 603026 Adenomas, salivary gland pleomorphic, 181030 (3) PLAU 191840 Quebec platelet disorder, 601709 (3) PLAU 191840 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) PLCB1 607120 Epileptic encephalopathy, early infantile, 12, 613722 (3) PLCD1 602142 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3) PLCE1 608414 Nephrotic syndrome, type 3, 610725 (3) PLCG2 600220 Familial cold autoinflammatory syndrome 3, 614468 (3) PLDN 604310 Hermansky-pudlak syndrome 9, 614171 (3) PLEC 601282 Epidermolysis bullosa simplex with pyloric atresia, 612138 (3) PLEC 601282 Epidermolysis bullosa simplex, Ogna type, 131950 (3) PLEC 601282 Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3) PLEC 601282 Muscular dystrophy, limb-girdle, type 2Q, 613723 (3) PLEKHG5 611101 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3) PLEKHM1 611466 Osteopetrosis, autosomal recessive 6, 611497 (3) PLG 173350 Conjunctivitis, ligneous, 217090 (3) PLG 173350 Plasminogen Tochigi disease (3) PLIN1 170290 Lipodystrophy, familial partial, type 4, 613877 (3) PLN 172405 Cardiomyopathy, dilated, 1P, 609909 (3) PLN 172405 Cardiomyopathy, familial hypertrophic, 18, 613874 (3) PLOD1 153454 Ehlers-Danlos syndrome, type VI, 225400 (3) PLOD1 153454 Nevo syndrome, 601451 (3) PLOD2 601865 Bruck syndrome 2, 609220 (3) PLOD3 603066 Lysyl hydroxylase 3 deficiency, 612394 (3) PLP1 300401 Pelizaeus-Merzbacher disease, 312080 (3) PLP1 300401 Spastic paraplegia-2, 312920 (3) PLTP 172425 [High density lipoprotein cholesterol level QTL 9] (3) PML 102578 Leukemia, acute promyelocytic, PML/RARA type (3) PMM2 601785 Congenital disorder of glycosylation, type Ia, 212065 (3) PMP22 601097 Charcot-Marie-Tooth disease, type 1A, 118220 (3) PMP22 601097 Charcot-Marie-Tooth disease, type 1E, 118300 (3) PMP22 601097 Dejerine-Sottas disease, 145900 (3) PMP22 601097 Neuropathy, recurrent, with pressure palsies, 162500 (3) PMP22 601097 Roussy-Levy syndrome, 180800 (3) PMS2 600259 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) PMS2 600259 Mismatch repair cancer syndrome, 276300 (3) PNKD 609023 Paroxysmal nonkinesigenic dyskinesia, 118800 (3) PNKP 605610 Epileptic encephalopathy, early infantile, 10, 613402 (3) PNP 164050 Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) PNPLA2 609059 Neutral lipid storage disease with myopathy, 610717 (3) PNPLA6 603197 Spastic paraplegia 39, 612020 (3) PNPO 603287 Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) POF1B 300603 Premature ovarian failure 2B, 300604 (3) POLG 174763 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) POLG 174763 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) POLG 174763 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) POLG 174763 Progressive external ophthalmoplegia, autosomal dominant, 157640 (3) POLG 174763 Progressive external ophthalmoplegia, autosomal recessive, 258450 (3) POLG2 604983 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) POLH 603968 Xeroderma pigmentosum, variant type, 278750 (3) POLR1C 610060 Treacher Collins syndrome 3, 248390 (3) POLR1D 613715 Treacher Collins syndrome 2, 613717 (3) POLR3A 614258 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) POLR3B 614366 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) POMC 176830 Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3) POMC 176830 {Obesity, early-onset, susceptibility to}, 601665 (3) POMGNT1 606822 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) POMGNT1 606822 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3) POMGNT1 606822 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) POMP 613386 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3) POMT1 607423 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) POMT1 607423 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3) POMT1 607423 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3) POMT2 607439 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) POMT2 607439 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3) POMT2 607439 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3) PON1 168820 {Coronary artery disease, susceptibility to} (3) PON1 168820 {Coronary artery spasm 2, susceptibility to (3) PON1 168820 {Microvascular complications of diabetes 5}, 612633 (3) PON1 168820 {Organophosphate poisoning, sensitivity to} (3) PON2 602447 {Coronary artery disease, susceptibility to} (3) POR 124015 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) POR 124015 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3) PORCN 300651 Focal dermal hypoplasia, 305600 (3) POU1F1 173110 Pituitary hormone deficiency, combined, 1, 613038 (3) POU3F4 300039 Deafness, X-linked 2, 304400 (3) POU4F3 602460 Deafness, autosomal dominant 15, 602459 (3) POU6F2 609062 {Wilms tumor susceptibility-5}, 601583 (3) PPARA 170998 {Hyperapobetalipoproteinemia, susceptibility to} (3) PPARG 601487 Carotid intimal medial thickness 1, 609338 (3) PPARG 601487 Insulin resistance, severe, digenic, 604367 (3) PPARG 601487 Lipodystrophy, familial partial, type 3, 604367 (3) PPARG 601487 Obesity, severe, 601665 (3) PPARG 601487 [Obesity, resistance to] (3) PPARG 601487 {Diabetes, type 2}, 125853 (3) PPARG 601487 {Glioblastoma, susceptibility to}, 137800 (3) PPARGC1B 608886 {Obesity, variation in}, 601665 (3) PPIB 123841 Osteogenesis imperfecta, type IX, 259440 (3) PPM1D 605100 Breast cancer, 114480 (3) PPOX 600923 Porphyria variegata, 176200 (3) PPP1R17 604088 {Hypercholesterolemia, susceptibility to}, 143890 (3) PPP1R3A 600917 Insulin resistance, severe, digenic, 604367 (3) PPP2R1B 603113 Lung cancer, 211980 (3) PPP2R2B 604325 Spinocerebellar ataxia 12, 604326 (3) PPT1 600722 Ceroid lipofuscinosis, neuronal, 1, 256730 (3) PQBP1 300463 Renpenning syndrome, 309500 (3) PRCC 179755 Renal cell carcinoma, papillary, 605074 (3) PRCD 610598 Retinitis pigmentosa 36, 610599 (3) PRDM5 614161 Brittle cornea syndrome 2, 614170 (3) PRF1 170280 Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) PRF1 170280 Lymphoma, non-Hodgkin, 605027 (3) PRG4 604283 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) PRICKLE1 608500 Epilepsy, progressive myoclonic 1B, 612437 (3) PRICKLE2 608501 Epilepsy, progressive myoclonic 5, 613832 (3) PRKAG2 602743 Cardiomyopathy, familial hypertrophic 6, 600858 (3) PRKAG2 602743 Glycogen storage disease of heart, lethal congenital, 261740 (3) PRKAG2 602743 Wolff-Parkinson-White syndrome, 194200 (3) PRKAR1A 188830 Acrodysostosis with hormone resistance, 101800 (3) PRKAR1A 188830 Adrenocortical tumor, somatic, (3) PRKAR1A 188830 Carney complex, type 1, 160980 (3) PRKAR1A 188830 Myxoma, intracardiac, 255960 (3) PRKAR1A 188830 Pigmented nodular adrenocortical disease, primary, 1, 610489 (3) PRKAR1A 188830 Thyroid carcinoma, papillary, somatic, 188550 (3) PRKCA 176960 Pituitary tumor, invasive (3) PRKCG 176980 Spinocerebellar ataxia 14, 605361 (3) PRKCH 605437 {Cerebral infarction, susceptibility to}, 601367 (3) PRKCSH 177060 Polycystic liver disease, 174050 (3) PRKRA 603424 Dystonia 16, 612067 (3) PRNP 176640 Creutzfeldt-Jakob disease, 123400 (3) PRNP 176640 Gerstmann-Straussler disease, 137440 (3) PRNP 176640 Huntington disease-like 1, 603218 (3) PRNP 176640 Insomnia, fatal familial, 600072 (3) PRNP 176640 Prion disease with protracted course, 606688 (3) PROC 612283 Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3) PROC 612283 Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) PRODH 606810 Hyperprolinemia, type I, 239500 (3) PRODH 606810 {Schizophrenia, susceptibility to, 4}, 600850 (3) PROK2 607002 Hypogonadism, hypogonadotropic, 146110 (3) PROK2 607002 Kallmann syndrome 4, 610628 (3) PROKR2 607123 Kallmann syndrome 3, 244200 (3) PROM1 604365 Cone-rod dystrophy 12, 612657 (3) PROM1 604365 Macular dystrophy, retinal, 2, 608051 (3) PROM1 604365 Retinitis pigmentosa 41, 612095 (3) PROM1 604365 Stargardt disease 4, 603786 (3) PROP1 601538 Pituitary hormone deficiency, combined, 2, 262600 (3) PROS1 176880 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3) PROS1 176880 Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) PRPF3 607301 Retinitis pigmentosa 18, 601414 (3) PRPF31 606419 Retinitis pigmentosa 11, 600138 (3) PRPF6 613979 Retinitis pigmentosa 60, 613983 (3) PRPF8 607300 Retinitis pigmentosa 13, 600059 (3) PRPH 170710 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) PRPH2 179605 Choriodal dystrophy, central areolar 2, 613105 (3) PRPH2 179605 Foveomacular dystrophy, adult-onset, with choroidal neovascularization, 608161 (3) PRPH2 179605 Macular dystrophy (3) PRPH2 179605 Macular dystrophy, patterned, 169150 (3) PRPH2 179605 Macular dystrophy, vitelliform, 608161 (3) PRPH2 179605 Retinitis pigmentosa 7, 608133 (3) PRPH2 179605 Retinitis pigmentosa, digenic, 608133 (3) PRPH2 179605 Retinitis punctata albescens, 136880 (3) PRPS1 311850 Arts syndrome, 301835 (3) PRPS1 311850 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3) PRPS1 311850 Deafness, X-linked 1, 304500 (3) PRPS1 311850 Gout, PRPS-related, 300661 (3) PRPS1 311850 Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3) PRRT2 614386 Episodic kinesigenic dyskinesia 1, 128200 (3) PRRX1 167420 Agnathia-otocephaly complex, 202650 (3) PRSS1 276000 Pancreatitis, hereditary, 167800 (3) PRSS12 606709 Mental retardation, autosomal recessive 1, 249500 (3) PRSS2 601564 {Pancreatitis, chronic, protection against}, 167800 (3) PRSS56 613858 Microphthalmia, isolated 6, 613517 (3) PRX 605725 Charcot-Marie-Tooth disease, type 4F, 145900 (3) PRX 605725 Dejerine-Sottas disease, autosomal recessive, 145900 (3) PSAP 176801 Combined SAP deficiency, 611721 (3) PSAP 176801 Gaucher disease, atypical, 610539 (3) PSAP 176801 Krabbe disease, atypical, 611722 (3) PSAP 176801 Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) PSAT1 610936 Phosphoserine aminotransferase deficiency, 610992 (3) PSEN1 104311 Acne inversa, familial, 3, 613737 (3) PSEN1 104311 Alzheimer disease, type 3, 607822 (3) PSEN1 104311 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3) PSEN1 104311 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3) PSEN1 104311 Cardiomyopathy, dilated, 1U, 613694 (3) PSEN1 104311 Dementia, frontotemporal, 600274 (3) PSEN1 104311 Pick disease, 172700 (3) PSEN2 600759 Alzheimer disease-4, 606889 (3) PSEN2 600759 Cardiomyopathy, dilated, 1V, 613697 (3) PSENEN 607632 Acne inversa, familial, 2, 613736 (3) PSMA6 602855 {Myocardial infarcation, susceptibility to}, 608446 (3) PSMB8 177046 Nakajo syndrome, 256040 (3) PSMC3IP 608665 Ovarian dysgenesis 3, 614324 (3) PSORS10 612410 {Psoriasis susceptibility 10} (3) PSORS6 605364 {Psoriasis susceptibility 6} (3) PSPH 172480 Phosphoserine phosphatase deficiency, 614023 (3) PSTPIP1 606347 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3) PTCH1 601309 Basal cell carcinoma, somatic, 605462 (3) PTCH1 601309 Basal cell nevus syndrome, 109400 (3) PTCH1 601309 Holoprosencephaly-7, 610828 (3) PTCH2 603673 Basal cell carcinoma, somatic, 605462 (3) PTCH2 603673 Medulloblastoma, 155255 (3) PTEN 601728 Bannayan-Riley-Ruvalcaba syndrome, 153480 (3) PTEN 601728 Cowden disease, 158350 (3) PTEN 601728 Endometrial carcinoma, somatic, 608089 (3) PTEN 601728 Lhermitte-Duclos syndrome, 158350 (3) PTEN 601728 Macrocephaly/autism syndrome, 605309 (3) PTEN 601728 Malignant melanoma, somatic, 155600 (3) PTEN 601728 PTEN hamartoma tumor syndrome (3) PTEN 601728 Squamous cell carcinoma, head and neck, somatic, 275355 (3) PTEN 601728 Thyroid carcinoma, follicular, somatic, 188470 (3) PTEN 601728 VATER association with macrocephaly and ventriculomegaly, 276950 (3) PTEN 601728 {Glioma susceptibility 2}, 613028 (3) PTEN 601728 {Meningioma}, 607174 (3) PTEN 601728 {Prostate cancer, somatic}, 176807 (3) PTF1A 607194 Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 (3) PTGDR 604687 {Asthma, susceptibility to, 1}, 607277 (3) PTGER2 176804 {Asthma, aspirin-induced, susceptibility to}, 208550 (3) PTGIS 601699 Hypertension, essential, 145500 (3) PTH 168450 Hypoparathyroidism, autosomal dominant, 146200 (3) PTH 168450 Hypoparathyroidism, autosomal recessive, 146200 (3) PTH1R 168468 Chondrodysplasia, Blomstrand type, 215045 (3) PTH1R 168468 Eiken syndrome, 600002 (3) PTH1R 168468 Failure of tooth eruption, primary, 125350 (3) PTH1R 168468 Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3) PTHLH 168470 Brachydactyly, type E2, 613382 (3) PTPN1 176885 {Insulin resistance, susceptibility to}, 125853 (3) PTPN11 176876 LEOPARD syndrome 1, 151100 (3) PTPN11 176876 Leukemia, juvenile myelomonocytic, 607785 (3) PTPN11 176876 Metachondromatosis, 156250 (3) PTPN11 176876 Noonan syndrome 1, 163950 (3) PTPN12 600079 Colon cancer (3) PTPN14 603155 Choanal atresia and lymphedema, 613611 (3) PTPN22 600716 {Diabetes, type 1, susceptibility to}, 222100 (3) PTPN22 600716 {Rheumatoid arthritis, susceptibility to}, 180300 (3) PTPN22 600716 {Systemic lupus erythematosus susceptibility to}, 152700 (3) PTPRC 151460 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3) PTPRC 151460 {Hepatitic C virus, susceptibility to}, 609532 (3) PTPRJ 600925 Colon cancer, somatic, 114500 (3) PTPRO 600579 Nephrotic syndrome, type 6, 614196 (3) PTPRQ 603317 Deafness, autosomal recessive 84, 613391 (3) PTRF 603198 Lipodystrophy, congenital generalized, type 4, 613327 (3) PTS 612719 Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) PUS1 608109 Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) PVRL1 600644 Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3) PVRL1 600644 Orofacial cleft 7, 225060 (3) PVRL4 609607 Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3) PYCR1 179035 Cutis laxa, autosomal recessive, type IIB, 612940 (3) PYCR1 179035 Cutis laxa, autosomal recessive, type IIIB, 614438 (3) PYGL 613741 Glycogen storage disease VI, 232700 (3) PYGM 608455 McArdle disease, 232600 (3) PYY 600781 {Obesity}, 601665 (3) QDPR 612676 Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) RAB18 602207 Warburg micro syndrome 3, 614222 (3) RAB23 606144 Carpenter syndrome, 201000 (3) RAB27A 603868 Griscelli syndrome, type 2, 607624 (3) RAB39B 300774 Mental retardation, X-linked 72, 300271 (3) RAB3GAP1 602536 Warburg micro syndrome 1, 600118 (3) RAB3GAP2 609275 Martsolf syndrome, 212720 (3) RAB3GAP2 609275 Warburg micro syndrome 2, 614225 (3) RAB7A 602298 Charcot-Marie-Tooth disease, type 2B, 600882 (3) RAC2 602049 Neutrophil immunodeficiency syndrome, 608203 (3) RAD50 604040 Nijmegen breakage syndrome-like disorder, 613078 (3) RAD51 179617 Mirror movements 2, 614508 (3) RAD51 179617 {Breast cancer, susceptibility to}, 114480 (3) RAD51C 602774 Fanconi anemia, complementation group 0, 613390 (3) RAD51C 602774 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3) RAD51D 602954 {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3) RAD54B 604289 Colon adenocarcinoma (3) RAD54B 604289 Lymphoma, non-Hodgkin (3) RAD54L 603615 Adenocarcinoma, colonic, somatic (3) RAD54L 603615 Lymphoma, non-Hodgkin, somatic, 605027 (3) RAD54L 603615 {Breast cancer, invasive ductal}, 114480 (3) RAF1 164760 LEOPARD syndrome 2, 611554 (3) RAF1 164760 Noonan syndrome 5, 611553 (3) RAG1 179615 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3) RAG1 179615 Combined cellular and humoral immune defects with granulomas, 233650 (3) RAG1 179615 Omenn syndrome, 603554 (3) RAG1 179615 Severe combined immunodeficiency, B cell-negative, 601457 (3) RAG2 179616 Combined cellular and humoral immune defects with granulomas, 233650 (3) RAG2 179616 Omenn syndrome, 603554 (3) RAG2 179616 Severe combined immunodeficiency, B cell-negative, 601457 (3) RAI1 607642 Smith-Magenis syndrome, 182290 (3) RANBP2 601181 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3) RAP1GDS1 179502 Lymphocytic leukemia, acute T-cell (3) RAPSN 601592 Fetal akinesia deformation sequence, 208150 (3) RAPSN 601592 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) RAPSN 601592 Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 (3) RARS2 611524 Pontocerebellar hypoplasia, type 6, 611523 (3) RASA1 139150 Basal cell carcinoma, somatic, 605462 (3) RASA1 139150 Capillary malformation-arteriovenous malformation, 608354 (3) RASA1 139150 Parkes Weber slndrome, 608355 (3) RAX 601881 Microphthalmia, isolated 3, 611038 (3) RAX2 610362 Cone-rod dystrophy 11, 610381 (3) RAX2 610362 Macular degeneration, age-related, 6, 613757 (3) RB1 614041 Bladder cancer, somatic, 109800 (3) RB1 614041 Osteosarcoma, somatic, 259500 (3) RB1 614041 Retinoblastoma, 180200 (3) RB1 614041 Retinoblastoma, trilateral, 180200 (3) RB1 614041 Small cell cancer of the lung, somatic, 182280 (3) RB1CC1 606837 Breast cancer, somatic, 114480 (3) RBBP8 604124 Jawad syndrome, 251255 (3) RBBP8 604124 Pancreatic carcinoma, somatic (3) RBBP8 604124 Seckel syndrome 2, 606744 (3) RBM10 300080 TARP syndrome, 311900 (3) RBM20 613171 Cardiomyopathy, dilated, 1DD, 613172 (3) RBM28 612074 Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3) RBP4 180250 Retinol binding protein, deficiency of (3) RCBTB1 607867 [Beta-glycopyranoside tasting] (3) RCBTB1 607867 {Alcohol dependence, susceptibility to}, 103780 (3) RD3 180040 Leber congenital amaurosis 12, 610612 (3) RDH12 608830 Leber congenital amaurosis 13, 612712 (3) RDH5 601617 Fundus albipunctatus, 136880 (3) RDX 179410 Deafness, autosomal recessive 24, 611022 (3) RECQL4 603780 Baller-Gerold syndrome, 218600 (3) RECQL4 603780 RAPADILINO syndrome, 266280 (3) RECQL4 603780 Rothmund-Thomson syndrome, 268400 (3) REEP1 609139 Spastic paraplegia 31, 610250 (3) RELN 600514 Lissencephaly 2 (Norman-Roberts type), 257320 (3) REN 179820 Hyperuricemic nephropathy, familial juvenile 2, 613092 (3) REN 179820 Renal tubular dysgenesis, 267430 (3) REN 179820 [Hyperproreninemia] (3) RET 164761 Central hypoventilation syndrome, congenital, 209880 (3) RET 164761 Medullary thyroid carcinoma, 155240 (3) RET 164761 Multiple endocrine neoplasia IIA, 171400 (3) RET 164761 Multiple endocrine neoplasia IIB, 162300 (3) RET 164761 Pheochromocytoma, 171300 (3) RET 164761 Renal agenesis, 191830 (3) RET 164761 {Hirschsprung disease, susceptibility to, 1}, 142623 (3) RETN 605565 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) RETN 605565 {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3) RFT1 611908 Congenital disorder of glycosylation, type In, 612015 (3) RFX5 601863 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3) RFX5 601863 Bare lymphocyte syndrome, type II, complementation group E, 209920 (3) RFXANK 603200 MHC class II deficiency, complementation group B, 209920 (3) RFXAP 601861 Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) RGR 600342 Retinitis pigmentosa 44, 613769 (3) RGS9 604067 Bradyopsia, 608415 (3) RGS9BP 607814 Bradyopsia, 608415 (3) RHAG 180297 Anemia, hemolytic, Rh-null, regulator type, 268150 (3) RHAG 180297 Rh-mod syndrome (3) RHCE 111700 Rh-null disease, amorph type (3) RHCE 111700 [Blood group, Rhesus] (3) RHD 111680 [Rh-negative blood type] (3) RHO 180380 Night blindness, congenital stationery, autosomal dominant 1, 610445 (3) RHO 180380 Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3) RHO 180380 Retinitis punctata albescens, 136880 (3) RIMS1 606629 Cone-rod dystrophy 7, 603649 (3) RIN2 610222 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) RIPK4 605706 Popliteal pterygium syndrome, lethal type, 263650 (3) RLBP1 180090 Bothnia retinal dystrophy, 607475 (3) RLBP1 180090 Fundus albipunctatus, 136880 (3) RLBP1 180090 Newfoundland rod-cone dystrophy, 607476 (3) RLBP1 180090 Retinitis punctata albescens, 136880 (3) RMRP 157660 Anauxetic dysplasia, 607095 (3) RMRP 157660 Cartilage-hair hypoplasia, 250250 (3) RMRP 157660 Metaphyseal dysplasia without hypotrichosis, 250460 (3) RNASEH2A 606034 Aicardi-Goutieres syndrome 4, 610333 (3) RNASEH2B 610326 Aicardi-Goutieres syndrome 2, 610181 (3) RNASEH2C 610330 Aicardi-Goutieres syndrome 3, 610329 (3) RNASEL 180435 Prostate cancer 1, 176807, 601518 (3) RNASET2 612944 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) RNF135 611358 Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3) RNF139 603046 Renal cell carcinoma, 144700 (3) RNF168 612688 RIDDLE syndrome, 611943 (3) RNF212 612041 Recombination rate QTL 1, 612042 (3) RNF213 613768 {Moyamoya disease 2, susceptibility to}, 607151 (3) RNF6 604242 Esophageal carcinoma, somatic, 133239 (3) RNU4ATAC 601428 Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3) ROBO2 602431 Vesicoureteral reflux 2, 610878 (3) ROBO3 608630 Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) ROM1 180721 Retinitis pigmentosa 7, digenic (3) ROR2 602337 Brachydactyly, type B1, 113000 (3) ROR2 602337 Robinow syndrome, autosomal recessive, 268310 (3) RP1 603937 Retinitis pigmentosa 1, 180100 (3) RP1 603937 {Hypertriglyceridemia, susceptibility to}, 145750 (3) RP1L1 608581 Occult macular dystrophy, 613587 (3) RP2 300757 Retinitis pigmentosa 2, 312600 (3) RP9 607331 Retinitis pigmentosa 9, 180104 (3) RPE65 180069 Leber congenital amaurosis 2, 204100 (3) RPE65 180069 Retinitis pigmentosa 20, 613794 (3) RPGR 312610 Cone-rod dystrophy-1, 304020 (3) RPGR 312610 Macular degeneration, X-linked atrophic, 300834 (3) RPGR 312610 Retinitis pigmentosa 3, 300029 (3) RPGR 312610 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3) RPGRIP1 605446 Cone-rod dystrophy 13, 608194 (3) RPGRIP1 605446 Leber congenital amaurosis 6, 613826 (3) RPGRIP1L 610937 COACH syndrome, 216360 (3) RPGRIP1L 610937 Joubert syndrome 7, 611560 (3) RPGRIP1L 610937 Meckel syndrome, type 5, 611561 (3) RPIA 180430 Ribose 5-phosphate isomerase deficiency, 608611 (3) RPL10 312173 {Autism, susceptibility to, X-linked 5}, 300847 (3) RPL11 604175 Diamond-Blackfan anemia 7, 612562 (3) RPL35A 180468 Diamond-Blackfan anemia 5, 612528 (3) RPL5 603634 Diamond-Blackfan anemia 6, 612561 (3) RPS10 603632 Diamond-Blackfan anemia 9, 613308 (3) RPS14 130620 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3) RPS17 180472 Diamond-Blackfan anemia 4, 612527 (3) RPS19 603474 Diamond-Blackfan anemia 1, 105650 (3) RPS24 602412 Diamond-blackfan anemia 3, 610629 (3) RPS26 603701 Diamond-Blackfan anemia 10, 613309 (3) RPS6KA3 300075 Coffin-Lowry syndrome, 303600 (3) RPS6KA3 300075 Mental retardation, X-linked 19, 300844 (3) RPS7 603658 Diamond-Blackfan anemia 8, 612563 (3) RRAS2 600098 Ovarian carcinoma (3) RRM2B 604712 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) RRM2B 604712 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3) RRM2B 604712 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, 613077 (3) RS1 300839 Retinoschisis, 312700 (3) RSPH4A 612647 Ciliary dyskinesia, primary, 11, 612649 (3) RSPH9 612648 Ciliary dyskinesia, primary, 12, 612650 (3) RSPO1 609595 Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3) RSPO1 609595 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3) RSPO4 610573 Anonychia congenita, 206800 (3) RTN2 603183 Spastic paraplegia 12, autosomal dominant, 604805 (3) RTN4R 605566 {Schizophrenia, susceptibility to}, 181500 (3) RUNX1 151385 Leukemia, acute myeloid, 601626 (3) RUNX1 151385 Platelet disorder, familial, with associated myeloid malignancy, 601399 (3) RUNX2 600211 Cleidocranial dysplasia, 119600 (3) RUNX2 600211 Dental anomalies, isolated (3) RXFP2 606655 Cryptorchidism, bilateral, 219050 (3) RYR1 180901 Central core disease, 117000 (3) RYR1 180901 Minicore myopathy with external ophthalmoplegia, 255320 (3) RYR1 180901 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3) RYR1 180901 {Malignant hyperthermia susceptibility 1}, 145600 (3) RYR2 180902 Arrhythmogenic right ventricular dysplasia 2, 600996 (3) RYR2 180902 Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3) SACS 604490 Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) SAG 181031 Oguchi disease-1, 258100 (3) SAG 181031 Retinitis pigmentosa 47, 613758 (3) SALL1 602218 Townes-Brocks branchiootorenal-like syndrome, 107480 (3) SALL1 602218 Townes-Brocks syndrome, 107480 (3) SALL4 607343 Duane-radial ray syndrome, 607323 (3) SALL4 607343 IVIC syndrome, 147750 (3) SAMD9 610456 Tumoral calcinosis, familial, normophosphatemic, 610455 (3) SAMHD1 606754 Aicardi-Goutieres syndrome 5, 612952 (3) SAMHD1 606754 Chilblain lupus 2, 614415 (3) SAR1B 607690 Chylomicron retention disease, 246700 (3) SARS2 612804 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3) SART3 611684 Porokeratosis, disseminated superficial actinic, 1, 175900 (3) SAT1 313020 Keratosis follicularis spinulosa decalvans, 308800 (3) SATB2 608148 Cleft palate and mental retardation, 119540 (3) SBDS 607444 Shwachman-Bodian-Diamond syndrome, 260400 (3) SBF2 607697 Charcot-Marie-Tooth disease, type 4B2, 604563 (3) SC5DL 602286 Lathosterolosis, 607330 (3) SCARB1 601040 [High density lipoprotien cholesterol level QTL6], 610762 (3) SCARB2 602257 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) SCARF2 613619 Van den Ende-Gupta syndrome, 600920 (3) SCGB1A1 192020 {Asthma, susceptibility to}, 600807 (3) SCGB3A2 606531 {Asthma, susceptibility to}, 600807 (3) SCN1A 182389 Dravet syndrome, 607208 (3) SCN1A 182389 Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3) SCN1A 182389 Febrile seizures, familial, 3A, 604403 (3) SCN1A 182389 Migraine, familial hemiplegic, 3, 609634 (3) SCN1B 600235 Brugada syndrome 5, 612838 (3) SCN1B 600235 Cardiac conduction defect, nonspecific, 612838 (3) SCN1B 600235 Generalized epilepsy with febrile seizures plus, type 1, 604233 (3) SCN2A 182390 Epileptic encephalopathy, early infantile, 11, 613721 (3) SCN2A 182390 Seizures, benign familial infantile, 3, 607745 (3) SCN3B 608214 Brugada syndrome 7, 613120 (3) SCN4A 603967 Hyperkalemic periodic paralysis, type 2, 613345 (3) SCN4A 603967 Myasthenic syndrome, acetazolamide-responsive, 614198 (3) SCN4A 603967 Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3) SCN4A 603967 Paramyotonia congenita, 168300 (3) SCN4B 608256 Long QT syndrome-10, 611819 (3) SCN5A 600163 Atrial fibrillation, familial, 10, 614022 (3) SCN5A 600163 Brugada syndrome 1, 601144 (3) SCN5A 600163 Cardiomyopathy, dilated, 1E, 601154 (3) SCN5A 600163 Heart block, nonprogressive, 113900 (3) SCN5A 600163 Heart block, progressive, type IA, 113900 (3) SCN5A 600163 Long QT syndrome-3, 603830 (3) SCN5A 600163 Sick sinus syndrome 1, 608567 (3) SCN5A 600163 Ventricular fibrillation, familial, 1, 603829 (3) SCN5A 600163 {Sudden infant death syndrome, susceptibility to}, 272120 (3) SCN8A 600702 Cognitive impairment with or without cerebellar ataxia, 614306 (3) SCN8A 600702 Epileptic encephalopathy, early infantile, 13, 614558 (3) SCN9A 603415 Dravet syndrome, 607208 (3) SCN9A 603415 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3) SCN9A 603415 Erythermalgia, primary, 133020 (3) SCN9A 603415 Febrile seizures, familial, 3B, 613863 (3) SCN9A 603415 Insensitivity to pain, channelopathy-associated, 243000 (3) SCN9A 603415 Paroxysmal extreme pain disorder, 167400 (3) SCN9A 603415 Small fiber neuropathy, 133020 (3) SCNN1A 600228 Bronchiectasis with or without elevated sweat chloride 2, 613021 (3) SCNN1A 600228 Pseudohypoaldosteronism, type I, 264350 (3) SCNN1B 600760 Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) SCNN1B 600760 Liddle syndrome, 177200 (3) SCNN1B 600760 Pseudohypoaldosteronism, type I, 264350 (3) SCNN1G 600761 Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) SCNN1G 600761 Liddle syndrome, 177200 (3) SCNN1G 600761 Pseudohypoaldosteronism, type I, 264350 (3) SCO1 603644 Hepatic failure, early onset, and neurologic disorder (3) SCO2 604272 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, 604377 (3) SCP2 184755 Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3) SDC3 186357 {Obesity, association with}, 601665 (3) SDHA 600857 Cardiomyopathy, dilated, 1GG, 613642 (3) SDHA 600857 Leigh syndrome, 256000 (3) SDHA 600857 Mitochondrial respiratory chain complex II deficiency, 252011 (3) SDHA 600857 Paragangliomas 5, 614165 (3) SDHAF1 612848 Mitochondrial complex II deficiency, 252011 (3) SDHAF2 613019 Paragangliomas 2, 601650 (3) SDHB 185470 Cowden-like syndrome, 612359 (3) SDHB 185470 Gastrointestinal stromal tumor, 606764 (3) SDHB 185470 Paraganglioma and gastric stromal sarcoma, 606864 (3) SDHB 185470 Paragangliomas 4, 115310 (3) SDHB 185470 Pheochromocytoma, 171300 (3) SDHC 602413 Gastrointestinal stromal tumor, 606764 (3) SDHC 602413 Paraganglioma and gastric stromal sarcoma, 606864 (3) SDHC 602413 Paragangliomas 3, 605373 (3) SDHD 602690 Carcinoid tumors, intestinal, 114900 (3) SDHD 602690 Cowden-like syndrome, 612359 (3) SDHD 602690 Merkel cell carcinoma, somatic (3) SDHD 602690 Paraganglioma and gastric stromal sarcoma, 606864 (3) SDHD 602690 Paragangliomas 1, with or without deafness, 168000 (3) SDHD 602690 Pheochromocytoma, 171300 (3) SEC23A 610511 Craniolenticulosutural dysplasia, 607812 (3) SEC23B 610512 Anemia, dyserythropoietic congenital, type II, 224100 (3) SEC63 608648 Polycystic liver disease, 174050 (3) SECISBP2 607693 Thyroid hormone metabolism, abnormal, 609698 (3) SELP 173610 {Atopy, susceptibility to}, 147050 (3) SEMA3E 608166 CHARGE syndrome, 214800 (3) SEMA4A 607292 Cone-rod dystrophy 10, 610283 (3) SEMA4A 607292 Retinitis pigmentosa 35, 610282 (3) SEMA7A 607961 [Blood group, John-Milton-Hagen] (3) SEPN1 606210 Muscular dystrophy, rigid spine, 1, 602771 (3) SEPN1 606210 Myopathy, congenital, with fiber-type disproportion, 255310 (3) SEPSECS 613009 Pontocerebellar hypoplasia type 2D, 613811 (3) SEPT9 604061 Amyotrophy, hereditary neuralgic, 162100 (3) SERPINA1 107400 Emphysema due to AAT deficiency, 613490 (3) SERPINA1 107400 Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) SERPINA1 107400 Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh, 613490 (3) SERPINA10 605271 {Venous thrombosis, susceptibility to} (3) SERPINA3 107280 Alpha-1-antichymotrypsin deficiency (3) SERPINA3 107280 Cerebrovascular disease, occlusive (3) SERPINA6 122500 Corticosteroid-binding globulin deficiency, 611489 (3) SERPINA7 314200 Thyroxine-binding globulin deficiency (3) SERPINB6 173321 Deafness, autosomal recessive 91, 613453 (3) SERPINC1 107300 Thrombophilia due to antithrombin III deficiency, 613118 (3) SERPIND1 142360 Thrombophilia due to heparin cofactor II deficiency, 612356 (3) SERPINE1 173360 Plasminogen activator inhibitor-1 deficiency, 613329 (3) SERPINE1 173360 {Transcription of plasminogen activator inhibitor, modulator of} (3) SERPINF1 172860 Osteogenesis imperfecta, type VI, 613982 (3) SERPINF2 613168 Alpha-2-plasmin inhibitor deficiency, 262850 (3) SERPING1 606860 Angioedema, hereditary, types I and II, 106100 (3) SERPING1 606860 Complement component 4, partial deficiency of, 120790 (3) SERPINH1 600943 Osteogenesis imperfecta, type X, 613848 (3) SERPINH1 600943 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3) SERPINI1 602445 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3) SETBP1 611060 Schinzel-Giedion midface retraction syndrome, 269150 (3) SETX 608465 Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) SETX 608465 Ataxia-ocular apraxia-2, 606002 (3) SF3B1 605590 Myelodysplastic syndrome, somatic, 614286 (3) SFTPA1 178630 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) SFTPA2 178642 Pulmonary fibrosis, idiopathic, 178500 (3) SFTPB 178640 Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) SFTPC 178620 Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3) SGCA 600119 Muscular dystrophy, limb-girdle, type 2D, 608099 (3) SGCB 600900 Muscular dystrophy, limb-girdle, type 2E, 604286 (3) SGCD 601411 Cardiomyopathy, dilated, 1L, 606685 (3) SGCD 601411 Muscular dystrophy, limb-girdle, type 2F, 601287 (3) SGCE 604149 Dystonia-11, myoclonic, 159900 (3) SGCG 608896 Muscular dystrophy, limb-girdle, type 2C, 253700 (3) SGSH 605270 Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) SH2B3 605093 Erythrocytosis, somatic, 133100 (3) SH2B3 605093 Myelofibrosis, somatic, 254450 (3) SH2B3 605093 Thrombocythemia, somatic, 187950 (3) SH2D1A 300490 Lymphoproliferative syndrome, X-linked, 308240 (3) SH3BP2 602104 Cherubism, 118400 (3) SH3PXD2B 613293 Frank-ter Haar syndrome, 249420 (3) SH3TC2 608206 Charcot-Marie-Tooth disease, type 4C, 601596 (3) SH3TC2 608206 Mononeuropathy of the median nerve, mild, 613353 (3) SHANK2 603290 {Autism susceptibility 17}, 613436 (3) SHANK3 606230 Phelan-McDermid syndrome, 606232 (3) SHANK3 606230 {Schizophrenia 15}, 613950 (3) SHH 600725 Holoprosencephaly-3, 142945 (3) SHH 600725 Microphthalmia with coloboma 5, 611638 (3) SHH 600725 Schizencephaly, 269160 (3) SHH 600725 Single median maxillary central incisor, 147250 (3) SHOC2 602775 Noonan-like syndrome with loose anagen hair, 607721 (3) SHOX 312865 Langer mesomelic dysplasia, 249700 (3) SHOX 312865 Leri-Weill dyschondrosteosis, 127300 (3) SHOX 312865 Short stature, idiopathic familial, 300582 (3) SHOX 400020 Langer mesomelic dysplasia, 249700 (3) SHOX 400020 Leri-Weill dyschondrosteosis, 127300 (3) SHOX 400020 Short stature, idiopathic familial, 300582 (3) SHROOM4 300579 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3) SIAE 610079 {Autoimmune disease, susceptibility to, 6}, 613551 (3) SIGMAR1 601978 Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIL1 608005 Marinesco-Sjogren syndrome, 248800 (3) SIM1 603128 Obesity, severe, 601665 (3) SIX1 601205 Brachiootic syndrome 3, 608389 (3) SIX1 601205 Deafness, autosomal dominant 23, 605192 (3) SIX3 603714 Holoprosencephaly-2, 157170 (3) SIX3 603714 Schizensephaly, 269160 (3) SIX5 600963 Branchiootorenal syndrome 2, 610896 (3) SIX6 606326 Microphthalmia with cataract 2, 212550 (3) SLC10A2 601295 Bile acid malabsorption, primary, 613291 (3) SLC11A1 600266 {Buruli ulcer, susceptibility to}, 610446 (3) SLC11A1 600266 {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3) SLC11A2 600523 Anemia, hypochromic microcytic, 206100 (3) SLC12A1 600839 Bartter syndrome, type 1, 601678 (3) SLC12A3 600968 Gitelman syndrome, 263800 (3) SLC12A6 604878 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) SLC14A1 613868 [Blood group, Kidd], 111000 (3) SLC16A1 600682 Erythrocyte lactate transporter defect, 245340 (3) SLC16A1 600682 Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3) SLC16A12 611910 Cataract, juvenile, with microcornea and glucosuria, 612018 (3) SLC16A2 300095 Allan-Herndon-Dudley syndrome, 300523 (3) SLC17A3 611034 ?Glycogen storage disease Ic, 232240 (3) SLC17A5 604322 Salla disease, 604369 (3) SLC17A5 604322 Sialic acid storage disorder, infantile, 269920 (3) SLC17A8 607557 Deafness, autosomal dominant 25, 605583 (3) SLC19A2 603941 Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) SLC19A3 606152 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) SLC1A3 600111 Episodic ataxia, type 6, 612656 (3) SLC20A2 158378 Basal ganglia cancification, idiopathic, 3, 614540 (3) SLC22A12 607096 Hypouricemia, renal, 220150 (3) SLC22A18 602631 Breast cancer, somatic, 114480 (3) SLC22A18 602631 Lung cancer, somatic, 211980 (3) SLC22A18 602631 Rhabdomyosarcoma, somatic, 268210 (3) SLC22A4 604190 {Rheumatoid arthritis, susceptibility to}, 180300 (3) SLC22A5 603377 Carnitine deficiency, systemic primary, 212140 (3) SLC24A1 603617 Night blindness, congenital stationary, type 1D, 613830 (3) SLC24A4 609840 [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3) SLC24A4 609840 [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3) SLC24A5 609802 [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3) SLC25A12 603667 Hypomyelination, global cerebral, 612949 (3) SLC25A13 603859 Citrullinemia, adult-onset type II, 603471 (3) SLC25A13 603859 Citrullinemia, type II, neonatal-onset, 605814 (3) SLC25A15 603861 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) SLC25A19 606521 Microcephaly, Amish type, 607196 (3) SLC25A19 606521 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3) SLC25A20 613698 Carnitine-acylcarnitine translocase deficiency, 212138 (3) SLC25A22 609302 Epileptic encephalopathy, early infantile, 3, 609304 (3) SLC25A3 600370 Micochondrial phosphate carrier deficiency, 610773 (3) SLC25A38 610819 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) SLC25A4 103220 Cardiomyopathy, familial hypertrophic, 192600 (3) SLC25A4 103220 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3) SLC26A2 606718 Achondrogenesis Ib, 600972 (3) SLC26A2 606718 Atelosteogenesis II, 256050 (3) SLC26A2 606718 De la Chapelle dysplasia, 256050 (3) SLC26A2 606718 Diastrophic dysplasia, 222600 (3) SLC26A2 606718 Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3) SLC26A2 606718 Epiphyseal dysplasia, multiple, 4, 226900 (3) SLC26A3 126650 Chloride diarrhea, congenital, Finnish type, 214700 (3) SLC26A4 605646 Enlarged vestibular aqueduct, 600791 (3) SLC26A4 605646 Pendred syndrome, 274600 (3) SLC26A5 604943 Deafness, autosomal recessive 61, 613865 (3) SLC27A4 604194 Ichthyosis prematurity syndrome, 608649 (3) SLC29A3 612373 Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, 612391 (3) SLC29A3 612373 Pigmented hypertrophic dermatosis with insulin-dependent diabetes, 612391 (3) SLC2A1 138140 GLUT1 deficiency syndrome 1, 606777 (3) SLC2A1 138140 GLUT1 deficiency syndrome 2, 612126 (3) SLC2A10 606145 Arterial tortuosity syndrome, 208050 (3) SLC2A2 138160 Fanconi-Bickel syndrome, 227810 (3) SLC2A2 138160 {Diabetes mellitus, noninsulin-dependent} (3) SLC2A4 138190 {Diabetes mellitus, noninsulin-dependent}, 125853 (3) SLC2A9 606142 Hypouricemia, renal, 2, 612076 (3) SLC2A9 606142 {Uric acid concentration, serum, QTL 2}, 612076 (3) SLC30A8 611145 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) SLC33A1 603690 Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) SLC33A1 603690 Spastic paraplegia-42, 612539 (3) SLC34A1 182309 Fanconi renotubular syndrome 2, 613388 (3) SLC34A1 182309 Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3) SLC34A2 604217 ?Testicular microlithiasis, 610441 (3) SLC34A2 604217 Pulmonary alveolar microlithiasis, 265100 (3) SLC34A3 609826 Hypophosphatemic rickets with hypercalciuria, 241530 (3) SLC35A1 605634 Congenital disorder of glycosylation, type IIf, 603585 (3) SLC35C1 605881 Congenital disorder of glycosylation, type IIc, 266265 (3) SLC35D1 610804 Schneckenbecken dysplasia, 269250 (3) SLC36A2 608331 Hyperglycinuria, 138500 (3) SLC36A2 608331 Iminoglycinuria, digenic, 242600 (3) SLC37A4 602671 Glycogen storage disease Ib, 232220 (3) SLC37A4 602671 Glycogen storage disease Ic, 232240 (3) SLC39A13 608735 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3) SLC39A4 607059 Acrodermatitis enteropathica, 201100 (3) SLC3A1 104614 Cystinuria, 220100 (3) SLC40A1 604653 Hemochromatosis, type 4, 606069 (3) SLC45A2 606202 Oculocutaneous albinism, type IV, 606574 (3) SLC45A2 606202 [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) SLC45A2 606202 [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) SLC45A2 606202 [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3) SLC46A1 611672 Folate malabsorption, hereditary, 229050 (3) SLC4A1 109270 Ovalocytosis (3) SLC4A1 109270 Renal tubular acidosis, distal, AD, 179800 (3) SLC4A1 109270 Renal tubular acidosis, distal, AR, 611590 (3) SLC4A1 109270 Spherocytosis, type 4, 612653 (3) SLC4A1 109270 [Blood group, Diego], 110500 (3) SLC4A1 109270 [Blood group, Froese], 601551 (3) SLC4A1 109270 [Blood group, Swann], 601550 (3) SLC4A1 109270 [Blood group, Waldner], 112010 (3) SLC4A1 109270 [Blood group, Wright], 112050 (3) SLC4A1 109270 [Malaria, resistance to], 611162 (3) SLC4A11 610206 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) SLC4A11 610206 Corneal endothelial dystrophy 2, 217700 (3) SLC4A11 610206 Corneal endothelial dystrophy and perceptive deafness, 217400 (3) SLC4A4 603345 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) SLC52A3 613350 Brown-Vialetto-Van Laere syndrome, 211530 (3) SLC52A3 613350 Fazio-Londe disease, 211500 (3) SLC5A1 182380 Glucose/galactose malabsorption, 606824 (3) SLC5A2 182381 Renal glucosuria, 233100 (3) SLC5A5 601843 Thyroid dyshormonogenesis 1, 274400 (3) SLC6A14 300444 {Obesity, susceptibility to, BMIQ11}, 300306 (3) SLC6A19 608893 Hartnup disorder, 234500 (3) SLC6A19 608893 Hyperglycinuria, 138500 (3) SLC6A19 608893 Iminoglycinuria, digenic, 242600 (3) SLC6A2 163970 Orthostatic intolerance, 604715 (3) SLC6A20 605616 Hyperglycinuria, 138500 (3) SLC6A20 605616 Iminoglycinuria, digenic, 242600 (3) SLC6A3 126455 Parkinsonism-dystonia, infantile, 613135 (3) SLC6A3 126455 {Major affective disorder}, 125480 (3) SLC6A3 126455 {Nicotine dependence, protection against}, 188890 (3) SLC6A4 182138 {Anxiety-related personality traits}, 607834 (3) SLC6A4 182138 {Obsessive-compulsive disorder}, 164230 (3) SLC6A5 604159 Hyperekplexia, 149400 (3) SLC6A8 300036 Creatine deficiency syndrome, X-linked, 300352 (3) SLC7A7 603593 Lysinuric protein intolerance, 222700 (3) SLC7A9 604144 Cystinuria, 220100 (3) SLC9A3R1 604990 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3) SLC9A6 300231 Mental retardation, X-linked syndromic, Christianson type, 300243 (3) SLC9A9 608396 {Autism susceptibility 16}, 613410 (3) SLCO1B1 604843 Hyperbilirubinemia, Rotor type, digenic, 237450 (3) SLCO1B3 605495 Hyperbilirubinemia, Rotor type, digenic, 237450 (3) SLCO2A1 601460 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3) SLITRK1 609678 Tourette syndrome, 137580 (3) SLITRK1 609678 Trichotillomania, 613229 (3) SLURP1 606119 Meleda disease, 248300 (3) SLX4 613278 Fanconi anemia, complementation group P, 613951 (3) SMAD3 603109 Loeys-Dietz syndrome, type 1C, 613795 (3) SMAD4 600993 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3) SMAD4 600993 Myhre syndrome, 139210 (3) SMAD4 600993 Pancreatic cancer (3) SMAD4 600993 Polyposis, juvenile intestinal, 174900 (3) SMAD7 602932 {Colorectal cancer, susceptibility to, 3}, 612229 (3) SMAD9 603295 Pulmonary hypertension, primary, 178600 (3) SMARCA4 603254 Rhabdoid tumor predisposition syndrome 2, 613325 (3) SMARCAD1 612761 Adermatoglyphia, 136000 (3) SMARCAL1 606622 Schimke immunoosseous dysplasia, 242900 (3) SMARCB1 601607 Rhabdoid predisposition syndrome 1, 609322 (3) SMARCB1 601607 Rhabdoid tumors, somatic, 609322 (3) SMC1A 300040 Cornelia de Lange syndrome 2, 300590 (3) SMC3 606062 Cornelia de Lange syndrome 3, 610759 (3) SMN1 600354 Spinal muscular atrophy-1, 253300 (3) SMN1 600354 Spinal muscular atrophy-2, 253550 (3) SMN1 600354 Spinal muscular atrophy-3, 253400 (3) SMN1 600354 Spinal muscular atrophy-4, 271150 (3) SMN2 601627 {Spinal muscular atrophy, type III, modifier of}, 253400 (3) SMO 601500 Basal cell carcinoma, somatic (3) SMOC1 608488 Microphthalmia with limb anomalies, 206920 (3) SMOC2 607223 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3) SMPD1 607608 Niemann-Pick disease, type A, 257200 (3) SMPD1 607608 Niemann-Pick disease, type B, 607616 (3) SMPX 300226 Deafness, X-linked 4, 300066 (3) SMS 300105 Mental retardation, X-linked, Snyder-Robinson type, 309583 (3) SNAI2 602150 Piebaldism, 172800 (3) SNAI2 602150 Waardenburg syndrome, type 2D, 608890 (3) SNAP29 604202 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) SNCA 163890 Dementia, Lewy body, 127750 (3) SNCA 163890 Parkinson disease 1, 168601 (3) SNCA 163890 Parkinson disease 4, 605543 (3) SNCB 602569 Dementia, Lewy body, 127750 (3) SNIP1 608241 Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3) SNRNP200 601664 Retinitis pigmentosa 33, 610359 (3) SNRPN 182279 Prader-Willi syndrome, 176270 (3) SNTA1 601017 Long QT syndrome 12, 612955 (3) SOBP 613667 Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3) SOD1 147450 Amyotrophic lateral sclerosis, due to SOD1 deficiency, 105400 (3) SOD2 147460 {Microvascular complications of diabetes 6}, 612634 (3) SOD3 185490 [Superoxide dismutase, elevated extracellular] (3) SORL1 602005 {Alzheimer disease, pathogenesis, association with}, 104300 (3) SORT1 602458 [Low density lipoprotein cholesterol level QTL6], 613589 (3) SOS1 182530 Fibromatosis, gingival, 135300 (3) SOS1 182530 Noonan syndrome 4, 610733 (3) SOST 605740 Sclerosteosis, 269500 (3) SOST 605740 Van Buchem disease, 239100 (3) SOX10 602229 PCWH syndrome, 609136 (3) SOX10 602229 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3) SOX10 602229 Waardenburg syndrome, type 4C, 613266 (3) SOX17 610928 Vesicoureteral reflux 3, 613674 (3) SOX18 601618 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3) SOX2 184429 Microphthalmia, syndromic 3, 206900 (3) SOX2 184429 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3) SOX3 313430 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3) SOX3 313430 Panhypopituitarism, X-linked, 312000 (3) SOX9 608160 Acampomelic campomelic dysplasia, 114290 (3) SOX9 608160 Campomelic dysplasia with autosomal sex reversal, 114290 (3) SOX9 608160 Campomelic dysplasia, 114290 (3) SP110 604457 Hepatic venoocclusive disease with immunodeficiency, 235550 (3) SP110 604457 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) SP7 606633 Osteogenesis imperfecta, type XII, 613849 (3) SPAST 604277 Spastic paraplegia-4, 182601 (3) SPATA16 609856 Spermatogenic failure 6, 102530 (3) SPATA7 609868 Leber congenital amaurosis 3, 604232 (3) SPATA7 609868 Retinitis pigmentosa, juvenile, autosomal recessive, 268000 (3) SPECC1L 614140 Facial clefting, oblique, 1, 600251 (3) SPG11 610844 Spastic paraplegia-11, 604360 (3) SPG20 607111 Troyer syndrome, 275900 (3) SPG21 608181 Mast syndrome, 248900 (3) SPG7 602783 Spastic paraplegia-7, 607259 (3) SPINK1 167790 Pancreatitis, hereditary, 167800 (3) SPINK1 167790 Tropical calcific pancreatitis, 608189 (3) SPINK1 167790 {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3) SPINK5 605010 Atopy, 147050 (3) SPINK5 605010 Netherton syndrome, 256500 (3) SPINT2 605124 Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3) SPR 182125 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) SPRED1 609291 Legius syndrome, 611431 (3) SPTA1 182860 Elliptocytosis-2, 130600 (3) SPTA1 182860 Pyropoikilocytosis, 266140 (3) SPTA1 182860 Spherocytosis, type 3, 270970 (3) SPTAN1 182810 Epileptic encephalopathy, early infantile, 5, 613477 (3) SPTB 182870 Anemia, neonatal hemolytic, fatal and near-fatal (3) SPTB 182870 Elliptocytosis-3 (3) SPTB 182870 Spherocytosis, type 2 (3) SPTBN2 604985 Spinocerebellar ataxia 5, 600224 (3) SPTLC1 605712 Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3) SPTLC2 605713 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3) SQSTM1 601530 Paget disease of bone, 602080 (3) SRC 190090 Colon cancer, advanced (3) SRCAP 611421 Floating-Harbor syndrome, 136140 (3) SRD5A2 607306 Pseudovaginal perineoscrotal hypospadias, 264600 (3) SRD5A3 611715 Congenital disorder of glycosylation, type Iq, 612379 (3) SRD5A3 611715 Kahrizi syndrome, 612713 (3) SRPX2 300642 Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3) SRY 480000 46XX sex reversal 1, 400045 (3) SRY 480000 46XY sex reversal 1, 400044 (3) SSTR5 182455 Somatostatin analog, resistance to, 102200 (3) SSX2 300192 Sarcoma, synovial (3) ST14 606797 Ichthyosis with hypotrichosis, 610765 (3) ST3GAL3 606494 Mental retardation, autosomal recessive 12, 611090 (3) ST3GAL5 604402 Amish infantile epilepsy syndrome, 609056 (3) STAR 600617 Lipoid adrenal hyperplasia, 201710 (3) STAT1 600555 Candidiasis, familial, 7, 614162 (3) STAT1 600555 Mycobacterial and viral infections, susceptibility to, autosomal recessive, 613796 (3) STAT1 600555 Mycobacterial infection, atypical, familial disseminated, 209950 (3) STAT3 102582 Hyper-IgE recurrent infection syndrome, 147060 (3) STAT5B 604260 Growth hormone insensitivity with immunodeficiency, 245590 (3) STAT5B 604260 Leukemia, acute promyelocytic, STAT5B/RARA type (3) STIL 181590 Microcephaly, primary autosomal recessive, 7, 612703 (3) STIM1 605921 Immune dysfunction, with T-cell inactivation due to calcium entry defect 2, 612783 (3) STK11 602216 Melanoma, malignant sporadic (3) STK11 602216 Pancreatic cancer, sporadic (3) STK11 602216 Peutz-Jeghers syndrome, 175200 (3) STK11 602216 Testicular tumor, sporadic, 273300 (3) STOX1 609397 Preeclampsia/eclampsia 4, 609404 (3) STRA6 610745 Microphthalmia, syndromic 9, 601186 (3) STRADA 608626 Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3) STRC 606440 Deafness, autosomal recessive 16, 603720 (3) STS 300747 Ichthyosis, X-linked, 308100 (3) STX11 605014 Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) STX16 603666 Pseudohypoparathyroidism, type IB, 603233 (3) STXBP2 601717 Hemophagocytic lymphohistiocytosis, familial, 5 (3) SUCLA2 603921 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria), 612073 (3) SUCLG1 611224 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) SUFU 607035 Medulloblastoma, desmoplastic, 155255 (3) SUMF1 607939 Multiple sulfatase deficiency, 272200 (3) SUMO1 601912 Orofacial cleft 10, 613705 (3) SUMO4 608829 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3) SUOX 606887 Sulfite oxidase deficiency, 272300 (3) SURF1 185620 Leigh syndrome, due to COX deficiency, 256000 (3) SYCP3 604759 Spermatogenic failure 4, 270960 (3) SYCP3 604759 {Pregnancy loss, susceptibility to} (3) SYN1 313440 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) SYN2 600755 {Schizophrenia, susceptibility to}, 181500 (3) SYNE1 608441 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) SYNE1 608441 Spinocerebellar ataxia, autosomal recessive 8, 610743 (3) SYNE2 608442 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3) SYNGAP1 603384 Mental retardation, autosomal dominant 5, 612621 (3) SYP 313475 Mental retardation, X-linked 96, 300802 (3) SYT14 610949 Spinocerebellar ataxia, autosomal recessive 11, 614229 (3) TAB2 605101 Congenital heart disease, nonsyndromic, 2, 612863 (3) TAC3 162330 Hypogonadotropic hypogonadism, 146110 (3) TACR3 162332 Hypogonadotropic hypogonadism, 146110 (3) TACSTD2 137290 Corneal dystrophy, gelatinous drop-like, 204870 (3) TAF1 313650 Dystonia-Parkinsonism, X-linked, 314250 (3) TAL1 187040 Leukemia-1, T-cell acute lymphocytic (3) TAL2 186855 Leukemia-2, T-cell acute lymphoblastic (3) TALDO1 602063 Transaldolase deficiency, 606003 (3) TAP1 170260 Bare lymphocyte syndrome, type I, 604571 (3) TAP2 170261 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3) TAP2 170261 Wegener-like granulomatosis (3) TAPBP 601962 Bare lymphocyte syndrome, type I, 604571 (3) TARDBP 605078 Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3) TARDBP 605078 Frontotemporal lobar degeneration, TARDBP-related, 612069 (3) TAS2R16 604867 {Alcohol dependence}, 103780 (3) TAS2R38 607751 [Phenylthiocarbamide tasting], 171200 (3) TAT 613018 Tyrosinemia, type II, 276600 (3) TAZ 300394 Barth syndrome, 302060 (3) TAZ 300394 Cardiomyopathy, dilated, 3A, 300069 (3) TAZ 300394 Left ventricular noncompaction, X-linked, 300183 (3) TBC1D24 613577 Myoclonic epilepsy, infantile, familial, 605021 (3) TBCE 604934 Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3) TBCE 604934 Kenny-Caffey syndrome-1, 244460 (3) TBP 600075 Spinocerebellar ataxia 17, 607136 (3) TBP 600075 {Parkinson disease, susceptibility to}, 168600 (3) TBX1 602054 Conotruncal anomaly face syndrome, 217095 (3) TBX1 602054 DiGeorge syndrome, 188400 (3) TBX1 602054 Velocardiofacial syndrome, 192430 (3) TBX15 604127 Cousin syndrome, 260660 (3) TBX19 604614 Adrenocorticotropic hormone deficiency, 201400 (3) TBX20 606061 Atrial septal defect 4, 611363 (3) TBX21 604895 Asthma and nasal polyps, 208550 (3) TBX21 604895 {Asthma, aspirin-induced, susceptibility to}, 208550 (3) TBX22 300307 Cleft palate with ankyloglossia, 303400 (3) TBX3 601621 Ulnar-mammary syndrome, 181450 (3) TBX4 601719 Small patella syndrome, 147891 (3) TBX5 601620 Holt-Oram syndrome, 142900 (3) TBXA2R 188070 {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3) TBXAS1 274180 Ghosal hematodiaphyseal syndrome, 231095 (3) TCAP 604488 Cardiomyopathy, dilated, 1N, 607487 (3) TCAP 604488 Muscular dystrophy, limb-girdle, type 2G, 601954 (3) TCF4 602272 Pitt-Hopkins syndrome, 610954 (3) TCF7L2 602228 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3) TCIRG1 604592 Osteopetrosis, autosomal recessive 1, 259700 (3) TCN2 613441 Transcobalamin II deficiency, 275350 (3) TCOF1 606847 Treacher Collins syndrome 1, 154500 (3) TCTN1 609863 Joubert syndrome 13, 614173 (3) TCTN2 613846 Meckel syndrome, type 8, 613885 (3) TDGF1 187395 Forebrain defects (3) TDP1 607198 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3) TDRD7 611258 Cataract, autosomal recessive congenital 4, 613887 (3) TEAD1 189967 Sveinsson choreoretinal atrophy, 108985 (3) TECR 610057 Mental retardation, autosomal recessive 14, 614020 (3) TECTA 602574 Deafness, autosomal dominant 8/12, 601543 (3) TECTA 602574 Deafness, autosomal recessive 21, 603629 (3) TEK 600221 Venous malformations, multiple cutaneous and mucosal, 600195 (3) TERC 602322 Aplastic anemia, 609135 (3) TERC 602322 Dyskeratosis congenita, autosomal dominant 1, 127550 (3) TERC 602322 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) TERT 187270 Dyskeratosis congenita, autosomal dominant 2, 613989 (3) TERT 187270 Dyskeratosis congenita, autosomal recessive 4, 613989 (3) TERT 187270 {Aplastic anemia, susceptibility to}, 609135 (3) TERT 187270 {Coronary artery disease, susceptiblity to} (3) TERT 187270 {Pulmonary fibrosis,idiopathic, susceptibility to}, 178500 (3) TET2 612839 Myelodysplastic syndrome, somatic, 614286 (3) TFAP2A 107580 Branchiooculofacial syndrome, 113620 (3) TFAP2B 601601 Char syndrome, 169100 (3) TFE3 314310 Renal cell carcinoma, papillary, 1, 300854 (3) TFR2 604720 Hemochromatosis, type 3, 604250 (3) TGFB1 190180 Camurati-Engelmann disease, 131300 (3) TGFB1 190180 {Cystic fibrosis lung disease, modifier of}, 219700 (3) TGFB3 190230 Arrhythmogenic right ventricular dysplasia 1, 107970 (3) TGFBI 601692 Corneal dystrophy, Avellino type, 607541 (3) TGFBI 601692 Corneal dystrophy, Groenouw type I, 121900 (3) TGFBI 601692 Corneal dystrophy, Reis-Bucklers type, 608470 (3) TGFBI 601692 Corneal dystrophy, Thiel-Behnke type, 602082 (3) TGFBI 601692 Corneal dystrophy, epithelial basement membrane, 121820 (3) TGFBI 601692 Corneal dystrophy, lattice type I, 122200 (3) TGFBI 601692 Corneal dystrophy, lattice type IIIA, 608471 (3) TGFBR1 190181 Loeys-Dietz syndrome, type 1A, 609192 (3) TGFBR1 190181 Loeys-Dietz syndrome, type 2A, 608967 (3) TGFBR1 190181 {Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 (3) TGFBR2 190182 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3) TGFBR2 190182 Esophageal cancer, somatic, 133239 (3) TGFBR2 190182 Loeys-Dietz syndrome, type 1B, 610168 (3) TGFBR2 190182 Loeys-Dietz syndrome, type 2B, 610380 (3) TGIF1 602630 Holoprosencephaly-4, 142946 (3) TGM1 190195 Ichthyosiform erythroderma, congenital, 242100 (3) TGM1 190195 Ichthyosis, lamellar, autosomal recessive, 242300 (3) TGM1 190195 Self-healing collodion baby, 242300 (3) TGM5 603805 Peeling skin syndrome, acral type, 609796 (3) TGM6 613900 Spinocerebellar ataxia 35, 613908 (3) THAP1 609520 Dystonia 6, torsion, 602629 (3) THBD 188040 Thrombophilia due to thrombomodulin defect, 614486 (3) THBD 188040 {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3) THBS2 188061 {Lumbar disc herniation, susceptibility to}, 603932 (3) THPO 600044 Thrombocythemia 1, 187950 (3) THRA 190120 Hypothyroidism, congenital, nongoitrous, 6, 614450 (3) THRB 190160 Thyroid hormone resistance, 188570 (3) THRB 190160 Thyroid hormone resistance, autosomal recessive, 274300 (3) THRB 190160 Thyroid hormone resistance, selective pituitary, 145650 (3) TIMM8A 300356 Deafness, X-linked 1, progressive (3) TIMM8A 300356 Jensen syndrome, 311150 (3) TIMM8A 300356 Mohr-Tranebjaerg syndrome, 304700 (3) TIMP3 188826 Sorsby fundus dystrophy, 136900 (3) TINF2 604319 Dyskeratosis congenita, autosomal dominant 3, 613990 (3) TINF2 604319 Revesz syndrome, 268130 (3) TIRAP 606252 {Bacteremia, protection against}, 614382 (3) TIRAP 606252 {Malaria, protection against}, 611162 (3) TIRAP 606252 {Pneumococcal disease, invasive, protection against}, 610799 (3) TIRAP 606252 {Tuberculosis, protection against}, 607948 (3) TJP2 607709 Hypercholanemia, familial, 607748 (3) TK2 188250 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) TLL1 606742 Atrial septal defect 6, 613087 (3) TLR1 601194 {Leprosy, protection against}, 613223 (3) TLR1 601194 {Leprosy, susceptibility to, 5}, 613223 (3) TLR2 603028 {Colorectal cancer, susceptibility to}, 114500 (3) TLR2 603028 {Leprosy, susceptibility to}, 246300 (3) TLR3 603029 Herpes simplex encephalitis, susceptibility to, 2, 613002 (3) TLR4 603030 Endotoxin hyporesponsiveness (3) TLR4 603030 {Colorectal cancer, susceptibility to}, 114500 (3) TLR4 603030 {Macular degeneration, age-related, 10}, 611488 (3) TLR5 603031 {Legionaire disease, susceptibility to}, 608556 (3) TLR5 603031 {Systemic lupus erythematosus, resistance to}, 601744 (3) TMC1 606706 Deafness, autosomal dominant 36, 606705 (3) TMC1 606706 Deafness, autosomal recessive 7, 600974 (3) TMC6 605828 Epidermodysplasia verruciformis, 226400 (3) TMC8 605829 Epidermodysplasia verruciformis, 226400 (3) TMCO1 614123 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132 (3) TMEM126A 612988 Optic atrophy-7, 612989 (3) TMEM127 613403 {Pheochromocytoma, susceptibility to}, 171300 (3) TMEM138 614459 Joubert syndrome 16, 614465 (3) TMEM216 613277 Joubert syndrome 2, 608091 (3) TMEM216 613277 Meckel syndrome, type 2, 603194 (3) TMEM237 614423 Joubert syndrome 14, 614424 (3) TMEM43 612048 Arrhythmogenic right ventricular dysplasia 5, 604400 (3) TMEM67 609884 COACH syndrome, 216360 (3) TMEM67 609884 Joubert syndrome 6, 610688 (3) TMEM67 609884 Meckel syndrome, type 3, 607361 (3) TMEM67 609884 Nephronophthisis 11, 613550 (3) TMEM67 609884 {Bardet-Biedl syndrome 14, modifier of}, 209900 (3) TMEM70 612418 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) TMIE 607237 Deafness, autosomal recessive 6, 600971 (3) TMPO 188380 Cardiomyopathy, dilated, 1T, 613740 (3) TMPRSS15 606635 Enterokinase deficiency, 226200 (3) TMPRSS3 605511 Deafness, autosomal recessive 10, congenital, 605316 (3) TMPRSS3 605511 Deafness, autosomal recessive 8, childhood onset, 601072 (3) TMPRSS6 609862 Iron-refractory iron deficiency anemia, 206200 (3) TNF 191160 {Asthma, susceptibility to}, 600807 (3) TNF 191160 {Dementia, vascular, susceptibility to} (3) TNF 191160 {Malaria, cerebral, susceptibility to}, 611162 (3) TNF 191160 {Migraine without aura, susceptibility to}, 157300 (3) TNF 191160 {Septic shock, susceptibility to} (3) TNFRSF10B 603612 Squamous cell carcinoma, head and neck, 275355 (3) TNFRSF11A 603499 Osteolysis, familial expansile, 174810 (3) TNFRSF11A 603499 Osteopetrosis, autosomal recessive 7, 612301 (3) TNFRSF11A 603499 Paget disease of bone, 602080 (3) TNFRSF11B 602643 Paget disease, juvenile, 239000 (3) TNFRSF13B 604907 Immunodeficiency, common variable, 2, 240500 (3) TNFRSF13B 604907 Immunoglobulin A deficiency 2, 609529 (3) TNFRSF13C 606269 Immunodeficiency, common variable, 4, 613494 (3) TNFRSF1A 191190 Periodic fever, familial, 142680 (3) TNFSF11 602642 Osteopetrosis, autosomal recessive 2, 259710 (3) TNFSF4 603594 {Myocardial infarction, susceptibility to}, 608446 (3) TNNC1 191040 Cardiomyopathy, dilated, 1Z, 611879 (3) TNNC1 191040 Cardiomyopathy, familial hypertrophic, 13, 613243 (3) TNNI2 191043 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3) TNNI3 191044 Cardiomyopathy, dilated, 1FF, 613286 (3) TNNI3 191044 Cardiomyopathy, dilated, 2A, 611880 (3) TNNI3 191044 Cardiomyopathy, familial hypertrophic, 7, 613690 (3) TNNI3 191044 Cardiomyopathy, familial restrictive, 115210 (3) TNNT1 191041 Nemaline myopathy, Amish type, 605355 (3) TNNT2 191045 Cardiomyopathy, dilated, 1D, 601494 (3) TNNT2 191045 Cardiomyopathy, familial hypertrophic, 2, 115195 (3) TNNT2 191045 Cardiomyopathy, familial restrictive, 3, 612422 (3) TNNT2 191045 Left ventricular noncompaction 6, 601494 (3) TNNT3 600692 Arthyrgryposis, distal, type 2B, 601680 (3) TNXB 600985 Ehlers-Danlos syndrome, autosomal dominant, hypermobility type, 130020 (3) TNXB 600985 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency, 606408 (3) TOP1 126420 DNA topoisomerase I, camptothecin-resistant (3) TOP2A 126430 DNA topoisomerase II, resistance to inhibition of, by amsacrine (3) TOPORS 609507 Retinitis pigmentosa 31, 609923 (3) TOR1A 605204 Dystonia, early-onset atypical, with myoclonic features (3) TOR1A 605204 Dystonia-1, torsion, 128100 (3) TOR1A 605204 {Dystonia-1, modifier of} (3) TP53 191170 Adrenal cortical carcinoma, 202300 (3) TP53 191170 Breast cancer, 114480 (3) TP53 191170 Choroid plexus papilloma, 260500 (3) TP53 191170 Colorectal cancer, 114500 (3) TP53 191170 Hepatocellular carcinoma, 114550 (3) TP53 191170 Li-Fraumeni syndrome, 151623 (3) TP53 191170 Li-Fraumeni-like syndrome, 151623 (3) TP53 191170 Nasopharyngeal carcinoma, 607107 (3) TP53 191170 Osteosarcoma, 259500 (3) TP53 191170 Pancreatic cancer, 260350 (3) TP63 603273 ADULT syndrome, 103285 (3) TP63 603273 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3) TP63 603273 Hay-Wells syndrome, 106260 (3) TP63 603273 Limb-mammary syndrome, 603543 (3) TP63 603273 Orofacial cleft 8, 129400 (3) TP63 603273 Rapp-Hodgkin syndrome, 129400 (3) TP63 603273 Split-hand/foot malformation 4, 605289 (3) TPCN2 612163 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) TPH2 607478 {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3) TPH2 607478 {Unipolar depression, susceptibility to}, 608516 (3) TPI1 190450 Hemolytic anemia due to triosephosphate isomerase deficiency (3) TPK1 606370 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3) TPM1 191010 Cardiomyopathy, dilated, 1Y, 611878 (3) TPM1 191010 Cardiomyopathy, familial hypertrophic, 3, 115196 (3) TPM2 190990 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3) TPM2 190990 Arthrogryposis, distal, type 2B, 601680 (3) TPM2 190990 Nemaline myopathy, 609285 (3) TPM3 191030 CAP myopathy, 609284 (3) TPM3 191030 Myopathy, congenital, with fiber-type disproportion, 255310 (3) TPM3 191030 Nemaline myopathy 1, autosomal dominant, 609284 (3) TPMT 187680 6-mercaptopurine sensitivity, 610460 (3) TPO 606765 Thyroid dyshormonogenesis 2A, 274500 (3) TPP1 607998 Ceroid lipofuscinosis, neuronal, 2, 204500 (3) TPRN 613354 Deafness, autosomal recessive 79, 613307 (3) TRA@ 186880 Leukemia/lymphoma, T-cell (3) TRAF3IP2 607043 {Psoriasis susceptibility 13}, 614070 (3) TRAPPC2 300202 Spondyloepiphyseal dysplasia tarda, 313400 (3) TRAPPC9 611966 Mental retardation, autosomal recessive 13, 613192 (3) TREM2 605086 Nasu-Hakola disease, 221770 (3) TREX1 606609 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) TREX1 606609 Chilblain lupus, 610448 (3) TREX1 606609 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3) TREX1 606609 {Systemic lupus erythematosus, susceptibility to}, 152700 (3) TRHR 188545 Thyrotropin-releasing hormone resistance, generalized (3) TRIM24 603406 Thyroid carcinoma, papillary, 188550 (3) TRIM32 602290 Bardet-Biedl syndrome 11, 209900 (3) TRIM32 602290 Muscular dystrophy, limb-girdle, type 2H, 254110 (3) TRIM33 605769 Thyroid carcinoma, papillary, 188550 (3) TRIM37 605073 Mulibrey nanism, 253250 (3) TRIOBP 609761 Deafness, autosomal recessive 28, 609823 (3) TRIP11 604505 Achondrogenesis, type IA, 200600 (3) TRMU 610230 Liver failure, transient infantile, 613070 (3) TRMU 610230 {Deafness, mitochondrial, modifier of}, 580000 (3) TRPC6 603652 Glomerulosclerosis, focal segmental, 2, 603965 (3) TRPM1 603576 Night blindness, congenital stationary, type 1C, 613216 (3) TRPM4 606936 Progressive familial heart block, type IB, 604559 (3) TRPM6 607009 Hypomagnesemia 1, intestinal, 602014 (3) TRPM7 605692 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}, 105500 (3) TRPS1 604386 Trichorhinophalangeal syndrome, type I, 190350 (3) TRPS1 604386 Trichorhinophalangeal syndrome, type III, 190351 (3) TRPV4 605427 Brachyolmia type 3, 113500 (3) TRPV4 605427 Hereditary motor and sensory neuropathy, type IIc, 606071 (3) TRPV4 605427 Metatropic dysplasia, 156530 (3) TRPV4 605427 Parastremmatic dwarfism, 168400 (3) TRPV4 605427 SED, Maroteaux type, 184095 (3) TRPV4 605427 Scapuloperoneal spinal muscular atrophy, 181405 (3) TRPV4 605427 Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3) TRPV4 605427 Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) TRPV4 605427 [Sodium serum level QTL 1], 613508 (3) TSC1 605284 Focal cortical dysplasia, Taylor balloon cell type, 607341 (3) TSC1 605284 Lymphangioleiomyomatosis, 606690 (3) TSC1 605284 Tuberous sclerosis-1, 191100 (3) TSC2 191092 Lymphangioleiomyomatosis, somatic, 606690 (3) TSC2 191092 Tuberous sclerosis-2, 191100 (3) TSEN2 608753 Pontocerebellar hypoplasia type 2B, 612389 (3) TSEN34 608754 Pontocerebellar hypoplasia type 2C, 612390 (3) TSEN54 608755 Pontocerebellar hypoplasia type 2A, 277470 (3) TSEN54 608755 Pontocerebellar hypoplasia type 4, 225753 (3) TSFM 604723 Combined oxidative phosphorylation deficiency 3, 610505 (3) TSG101 601387 Breast cancer, somatic, 114480 (3) TSHB 188540 Hypothryoidism, congenital, nongoitrous 4, 275100 (3) TSHR 603372 Hyperthyroidism, familial gestational, 603373 (3) TSHR 603372 Hyperthyroidism, nonautoimmune, 609152 (3) TSHR 603372 Hypothyroidism, congenital, nongoitrous, 1 275200 (3) TSHR 603372 Thyroid adenoma, hyperfunctioning, somatic (3) TSHR 603372 Thyroid carcinoma with thyrotoxicosis (3) TSHZ1 614427 Aural atresia, congenital, 607842 (3) TSPAN12 613138 Exudative vitreoretinopathy 5, 613310 (3) TSPAN7 300096 Mental retardation, X-linked 58, 300210 (3) TSPYL1 604714 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) TTBK2 611695 Spinocerebellar ataxia 11, 604432 (3) TTC19 613814 Mitochondrial complex III deficiency, 124000 (3) TTC21B 612014 Asphyxiating thoracic dystrophy 4, 613819 (3) TTC21B 612014 Nephronophthisis 12, 613820 (3) TTC8 608132 Bardet-Biedl syndrome 8, 209900 (3) TTC8 608132 Retinitis pigmentosa 51, 613464 (3) TTN 188840 Cardiomyopathy, dilated, 1G, 604145 (3) TTN 188840 Cardiomyopathy, familial hypertrophic, 9, 613765 (3) TTN 188840 Muscular dystrophy, limb-girdle, type 2J, 608807 (3) TTN 188840 Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) TTN 188840 Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) TTN 188840 Tibial muscular dystrophy, tardive, 600334 (3) TTPA 600415 Ataxia with isolated vitamin E deficiency, 277460 (3) TTR 176300 Amyloidosis, hereditary, transthyretin-related, 105210 (3) TTR 176300 Carpal tunnel syndrome, familial, 115430 (3) TTR 176300 [Dystransthyretinemic hyperthyroxinemia], 145680 (3) TUBA1A 602529 Lissencephaly 3, 611603 (3) TUBA8 605742 Polymicrogyria with optic nerve hypoplasia, 613180 (3) TUBB1 612901 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3) TUBB2B 612850 Polymicrogyria, asymmetric, 610031 (3) TUBB3 602661 Cortical dysplasia, complex, with other brain malformations, 614039 (3) TUBB3 602661 Fibrosis of extraocular muscles, congenital, 3A, 600638 (3) TUFM 602389 Combined oxidative phosphorylation deficiency 4, 610678 (3) TULP1 602280 Leber congenital amaurosis 15, 613843 (3) TULP1 602280 Retinitis pigmentosa 14, 600132 (3) TUSC3 601385 Mental retardation, autosomal recessive 7, 611093 (3) TWIST1 601622 Craniosynostosis, type 1, 123100 (3) TWIST1 601622 Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3) TWIST1 601622 Saethre-Chotzen syndrome, 101400 (3) TXNDC3 607421 Ciliary dyskinesia, primary, 6, 610852 (3) TYK2 176941 Tyrosine kinase 2 deficiency, 611521 (3) TYMP 131222 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) TYR 606933 Albinism, oculocutaneous, type IA, 203100 (3) TYR 606933 Albinism, oculocutaneous, type IB, 606952 (3) TYR 606933 Waardenburg syndrome/albinism, digenic, 103470 (3) TYR 606933 [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3) TYR 606933 [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3) TYR 606933 {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3) TYROBP 604142 Nasu-Hakola disease, 221770 (3) TYRP1 115501 Albinism, oculocutaneous, type III, 203290 (3) UBA1 314370 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3) UBE2A 312180 Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) UBE3A 601623 Angelman syndrome, 105830 (3) UBIAD1 611632 Corneal dystrophy, crystalline, of Schnyder, 121800 (3) UBQLN2 300264 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3) UBR1 605981 Johanson-Blizzard syndrome, 243800 (3) UCHL1 191342 {Parkinson disease 5, susceptibility to}, 613643 (3) UCP1 113730 {Obesity, susceptibility to}, 601665 (3) UCP2 601693 {Obesity, susceptibility to, BMIQ4}, 607447 (3) UCP3 602044 {Obesity, severe, and type II diabetes}, 601665 (3) UGT1A1 191740 Crigler-Najjar syndrome, type I, 218800 (3) UGT1A1 191740 Crigler-Najjar syndrome, type II, 606785 (3) UGT1A1 191740 Hyperbilirubinemia, familial transcient neonatal, 237900 (3) UGT1A1 191740 [Bilirubin, serum level of, QTL1], 601816 (3) UGT1A1 191740 [Gilbert syndrome], 143500 (3) UMOD 191845 Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) UMOD 191845 Hyperuricemic nephropathy, familial juvenile 1, 162000 (3) UMOD 191845 Medullary cystic kidney disease 2, 603860 (3) UMPS 613891 Orotic aciduria, 258900 (3) UNC119 604011 Cone-rod dystrophy (3) UNC13D 608897 Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) UNC93B1 608204 Herpes simplex encephalitis, susceptibility to, 1, 610551 (3) UNG 191525 Immunodeficiency with hyper IgM, type 4, 608106 (3) UPB1 606673 Beta-ureidopropionase deficiency, 613161 (3) UPF3B 300298 Mental retardation, X-linked, syndromic 14, 300676 (3) UPK3A 611559 Renal adysplasia, 191830 (3) UPK3A 611559 Urogenital adysplasia, 191830 (3) UQCRB 191330 Mitochondrial complex III deficiency, 124000 (3) UQCRQ 612080 Mitochondrial complex III deficiency, 124000 (3) UROC1 613012 Urocanase deficiency, 276880 (3) UROD 613521 Porphyria cutanea tarda, 176100 (3) UROD 613521 Porphyria, hepatoerythropoietic, 176100 (3) UROS 606938 Porphyria, congenital erythropoietic, 263700 (3) USF1 191523 {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3) USH1C 605242 Deafness, autosomal recessive 18, 602092 (3) USH1C 605242 Usher syndrome, type 1C, 276904 (3) USH1G 607696 Usher syndrome, type 1G, 606943 (3) USH2A 608400 Retinitis pigmentosa 39, 613809 (3) USH2A 608400 Usher syndrome, type 2A, 276901 (3) USP9Y 400005 Spermatogenic failure, Y-linked, 2, 415000 (3) VANGL1 610132 Caudal regression syndrome, 600145 (3) VANGL1 610132 Neural tube defects, 182940 (3) VAPB 605704 Amyotrophic lateral sclerosis 8, 608627 (3) VAPB 605704 Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) VCAN 118661 Wagner syndrome 1, 143200 (3) VCL 193065 Cardiomyopathy, dilated, 1W, 611407 (3) VCL 193065 Cardiomyopathy, familial hypertrophic, 15, 613255 (3) VCP 601023 Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, 613954 (3) VCP 601023 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, 167320 (3) VDR 601769 Rickets, vitamin D-resistant, type IIA, 277440 (3) VEGFA 192240 {Microvascular complications of diabetes 1}, 603933 (3) VHL 608537 Erythrocytosis, familial, 2, 263400 (3) VHL 608537 Hemangioblastoma, cerebellar, somatic (3) VHL 608537 Pheochromocytoma, 171300 (3) VHL 608537 Renal cell carcinoma, somatic, 144700 (3) VHL 608537 von Hippel-Lindau syndrome, 193300 (3) VIM 193060 Cataract, pulverulent, autosomal dominant (3) VKORC1 608547 Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3) VKORC1 608547 Warfarin resistance, 122700 (3) VLDLR 192977 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) VNN1 603570 [High density lipoprotein cholesterol level QTL 8] (3) VPS13A 605978 Choreoacanthocytosis, 200150 (3) VPS13B 607817 Cohen syndrome, 216550 (3) VPS33B 608552 Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) VPS35 601501 Parkinson disease 17, 614203 (3) VRK1 602168 Pontocerebellar hypoplasia type 1, 607596 (3) VSX1 605020 Corneal dystrophy, hereditary polymorphous posterior, 122000 (3) VSX1 605020 Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3) VSX1 605020 Keratoconus 1, 148300 (3) VSX2 142993 Microphthalmia with coloboma 3, 610092 (3) VSX2 142993 Microphthalmia, isolated 2, 610093 (3) VWF 613160 von Willebrand disease, type 1, 193400 (3) VWF 613160 von Willebrand disease, type 2A, 2B, 2M, and 2N, 613554 (3) VWF 613160 von Willibrand disease, type 3, 277480 (3) WAS 300392 Neutropenia, severe congenital, X-linked, 300299 (3) WAS 300392 Thrombocytopenia, X-linked, 313900 (3) WAS 300392 Thrombocytopenia, X-linked, intermittent, 313900 (3) WAS 300392 Wiskott-Aldrich syndrome, 301000 (3) WDPCP 613580 Bardet-Biedl syndrome 15, 209900 (3) WDR19 608151 Asphyxiating thoracic dystrophy 5, 614376 (3) WDR19 608151 Cranioectodermal dysplasia 4, 614378 (3) WDR19 608151 Nephronophthisis 13, 614377 (3) WDR35 613602 Cranioectodermal dysplasia 2, 613610 (3) WDR35 613602 Short rib-polydactyly syndrome, type V, 614091 (3) WDR36 609669 Glaucoma 1, open angle, G, 609887 (3) WDR62 613583 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) WDR65 614259 van der Woude syndrome 2, 606713 (3) WDR72 613214 Amelogenesis imperfecta, hypomaturation type, IIA3, 613211 (3) WFS1 606201 Deafness, autosomal dominant 6/14/38, 600965 (3) WFS1 606201 Wolfram syndrome, 222300 (3) WFS1 606201 Wolfram-like syndrome, autosomal dominant, 614296 (3) WFS1 606201 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3) WHSC1L1 607083 Leukemia, acute myeloid, 601626 (3) WIPF1 602357 Wiskott-Aldrich syndrome 2, 614493 (3) WISP3 603400 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) WISP3 603400 Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3) WNK1 605232 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) WNK1 605232 Pseudohypoaldosteronism, type IIC, 614492 (3) WNK4 601844 Pseudohypoaldosteronism, type IIB, 614491 (3) WNT10A 606268 Odontoonychodermal dysplasia, 257980 (3) WNT10A 606268 Schopf-Schulz-Passarge syndrome, 224750 (3) WNT10A 606268 Tooth agenesis, selective, 4, 150400 (3) WNT10B 601906 Split-hand/foot malformation 6, 225300 (3) WNT3 165330 Tetra-amelia, autosomal recessive, 273395 (3) WNT4 603490 Mullerian aplasia and hyperandrogenism, 158330 (3) WNT4 603490 SERKAL syndrome, 611812 (3) WNT5A 164975 Robinow syndrome, autosomal dominant, 180700 (3) WNT7A 601570 Fuhrmann syndrome, 228930 (3) WNT7A 601570 Ulna and fibula, absence of, with sever limb deficiency, 276820 (3) WRAP53 612661 Dyskeratosis congenita, autosomal recessive 3, 613988 (3) WRN 604611 Werner syndrome, 277700 (3) WT1 607102 Denys-Drash syndrome, 194080 (3) WT1 607102 Frasier syndrome, 136680 (3) WT1 607102 Meacham syndrome, 608978 (3) WT1 607102 Mesothelioma, somatic, 156240 (3) WT1 607102 Nephrotic syndrome, type 4, 256370 (3) WT1 607102 Wilms tumor, type 1, 194070 (3) WWC1 610533 [Memory, enhanced, association with] (3) WWOX 605131 Esophageal squamous cell carcinoma, 133239 (3) XBP1 194355 {Major affective disorder-7, susceptibility to}, 612371 (3) XDH 607633 Xanthinuria, type I, 278300 (3) XIAP 300079 Lymphoproliferative syndrome, X-linked, 2, 300635 (3) XIST 314670 X-inactivation, familial skewed, 300087 (3) XPA 611153 Xeroderma pigmentosum, group A, 278700 (3) XPC 613208 Xeroderma pigmentosum, group C, 278720 (3) XPNPEP2 300145 {Angioedema induced by ACE inhibitors, susceptibility to} (3) XPNPEP3 613553 Nephronophthisis-like nephropathy 1, 613159 (3) XRCC3 600675 {Breast cancer, susceptibility to}, 114480 (3) XRCC3 600675 {Melanoma, cutaneous malignant, 6}, 613972 (3) XYLT1 608124 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) XYLT2 608125 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) YARS 603623 Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3) YARS2 610957 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) ZAP70 176947 Selective T-cell defect (3) ZBTB16 176797 Leukemia, acute promyelocytic, PL2F/RARA type (3) ZBTB16 176797 Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3) ZBTB24 614064 Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) ZDHHC15 300576 Mental retardation, X-linked 91, 300577 (3) ZDHHC9 300646 Mental retardation, X-linked syndromic, Raymond type, 300799 (3) ZEB1 189909 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3) ZEB1 189909 Corneal dystrophy, posterior polymorphous, 3, 609141 (3) ZEB2 605802 Mowat-Wilson syndrome, 235730 (3) ZFAT 610931 {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) ZFHX3 104155 {Prostate cancer, susceptibility to}, 176807 (3) ZFP57 612192 Diabetes mellitus, transient neonatal, 1, 601410 (3) ZFPM2 603693 Diaphragmatic hernia 3, 610187 (3) ZFPM2 603693 Tetralogy of Fallot, 187500 (3) ZFYVE26 612012 Spastic paraplegia 15, 270700 (3) ZFYVE27 610243 Spastic paraplegia 33, 610244 (3) ZIC2 603073 Holoprosencephaly-5, 609637 (3) ZIC3 300265 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) ZIC3 300265 Heterotaxy, visceral, 1, X-linked 306955 (3) ZMPSTE24 606480 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3) ZMPSTE24 606480 Restrictive dermopathy, lethal, 275210 (3) ZNF365 607818 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3) ZNF41 314995 Mental retardation, X-linked 89, 300848 (3) ZNF469 612078 Brittle cornea syndrome, 229200 (3) ZNF513 613598 Retinitis pigmentosa 58, 613617 (3) ZNF592 613624 Spinocerebellar ataxia, autosomal recessive 5, 606937 (3) ZNF644 614159 Myopia 21, autosomal dominant, 614167 (3) ZNF674 300573 Mental retardation, X-linked 92, 300851 (3) ZNF711 314990 Mental retardation, X-linked 97, 300803 (3) ZNF750 610226 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) ZNF81 314998 Mental retardation, X-linked 45, 300498 (3)
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