I filtered the NHGRI list of GWAS results for genes associated with genome-wide significant (pvalue <5e-8) GWAS hits. I then annotated them for known causal roles in Mendelian phenotypes and diseases. [Please Make Suggestions for Inclusion and Exclusion]
My generalization is that the space of disease-causing genes is limited. Some gene mutations lead to early lethality - unhappy outcome but no disease burden in live borne population. Some genes are 'redundant' or the variation is not perceived as pathological in the present environment.
| MIM Morbid Accession | MIM Morbid Description | HGNC symbol |
| 205400 | TANGIER DISEASE; TGD | ABCA1 |
| 600046 | ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1 | ABCA1 |
| 604091 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | ABCA1 |
| 601847 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2 | ABCB11 |
| 605479 | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2 | ABCB11 |
| 138900 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 | ABCG2 |
| 614490 | BLOOD GROUP, JUNIOR SYSTEM; JR | ABCG2 |
| 210250 | SITOSTEROLEMIA | ABCG5 |
| 210250 | SITOSTEROLEMIA | ABCG8 |
| 611465 | GALLBLADDER DISEASE 4; GBD4 | ABCG8 |
| 612674 | POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; | ABHD12 |
| 110300 | ABO GLYCOSYLTRANSFERASE; ABO | ABO |
| 613933 | ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD | ACACA |
| 201475 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | ACADL |
| 201450 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACADM |
| 201470 | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD | ACADS |
| 106180 | ANGIOTENSIN I-CONVERTING ENZYME; ACE | ACE |
| 267430 | RENAL TUBULAR DYSGENESIS; RTD | ACE |
| 601367 | STROKE, ISCHEMIC | ACE |
| 612624 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3 | ACE |
| 614519 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH | ACE |
| 112100 | YT BLOOD GROUP ANTIGEN | ACHE |
| 612098 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11 | ACTC1 |
| 612794 | ATRIAL SEPTAL DEFECT 5; ASD5 | ACTC1 |
| 613424 | CARDIOMYOPATHY, DILATED, 1R; CMD1R | ACTC1 |
| 600376 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2 | ACVRL1 |
| 102700 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | ADA |
| 277600 | WEILL-MARCHESANI SYNDROME 1; WMS1 | ADAMTS10 |
| 274150 | THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP | ADAMTS13 |
| 613195 | WEILL-MARCHESANI-LIKE SYNDROME | ADAMTS17 |
| 608454 | KNOBLOCH SYNDROME 2; KNO2 | ADAMTS18 |
| 606703 | DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM | ADCY5 |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | ADIPOQ |
| 612556 | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1 | ADIPOQ |
| 614300 | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY | ADK |
| 607276 | RESTING HEART RATE, VARIATION IN | ADRB1 |
| 104150 | ALPHA-FETOPROTEIN; AFP | AFP |
| 608629 | JOUBERT SYNDROME 3; JBTS3 | AHI1 |
| 109100 | AUTOIMMUNE DISEASE | AIRE |
| 240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1 | AIRE |
| 115080 | CARDIAC CONDUCTION DEFECT | AKAP10 |
| 103600 | ALBUMIN; ALB | ALB |
| 100650 | ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2 | ALDH2 |
| 610251 | ALCOHOL SENSITIVITY, ACUTE | ALDH2 |
| 271980 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD | ALDH5A1 |
| 266100 | EPILEPSY, PYRIDOXINE-DEPENDENT; EPD | ALDH7A1 |
| 229600 | FRUCTOSE INTOLERANCE, HEREDITARY | ALDOB |
| 608540 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K | ALG1 |
| 203800 | ALSTROM SYNDROME; ALMS | ALMS1 |
| 146300 | HYPOPHOSPHATASIA, ADULT | ALPL |
| 241500 | HYPOPHOSPHATASIA, INFANTILE | ALPL |
| 241510 | HYPOPHOSPHATASIA, CHILDHOOD | ALPL |
| 605019 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 | ANGPTL3 |
| 182900 | SPHEROCYTOSIS, TYPE 1; SPH1 | ANK1 |
| 262890 | SCOTT SYNDROME; SCTS | ANO6 |
| 602089 | HEMANGIOMA, CAPILLARY INFANTILE | ANTXR1 |
| 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL | APOA1 |
| 205400 | TANGIER DISEASE; TGD | APOA1 |
| 604091 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | APOA1 |
| 144650 | HYPERLIPOPROTEINEMIA, TYPE V | APOA5 |
| 145750 | HYPERTRIGLYCERIDEMIA, FAMILIAL | APOA5 |
| 107730 | APOLIPOPROTEIN B; APOB | APOB |
| 144010 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B | APOB |
| 207750 | APOLIPOPROTEIN C-II DEFICIENCY | APOC2 |
| 614028 | HYPERALPHALIPOPROTEINEMIA 2; HALP2 | APOC3 |
| 207750 | APOLIPOPROTEIN C-II DEFICIENCY | APOC4 |
| 104310 | ALZHEIMER DISEASE 2 | APOE |
| 107741 | APOLIPOPROTEIN E; APOE | APOE |
| 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL | APOE |
| 269600 | SEA-BLUE HISTIOCYTE DISEASE | APOE |
| 611771 | LIPOPROTEIN GLOMERULOPATHY; LPG | APOE |
| 612551 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4 | APOL1 |
| 110450 | BLOOD GROUP--COLTON; CO | AQP1 |
| 300068 | ANDROGEN INSENSITIVITY SYNDROME; AIS | AR |
| 312300 | ANDROGEN INSENSITIVITY, PARTIAL; PAIS | AR |
| 313200 | SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 | AR |
| 613065 | LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL | ARID5B |
| 613778 | MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8 | ARMS2 |
| 302950 | CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 | ARSE |
| 611742 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9 | ASIP |
| 271900 | CANAVAN DISEASE | ASPA |
| 608716 | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 | ASPM |
| 612160 | HISTIOCYTOMA, ANGIOMATOID FIBROUS | ATF1 |
| 611081 | INFLAMMATORY BOWEL DISEASE 10; IBD10 | ATG16L1 |
| 208900 | ATAXIA-TELANGIECTASIA; AT | ATM |
| 221900 | RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC | ATOH7 |
| 105830 | ANGELMAN SYNDROME; AS | ATP10A |
| 601003 | BRODY MYOPATHY | ATP2A1 |
| 219200 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A | ATP6V0A2 |
| 278250 | WRINKLY SKIN SYNDROME; WSS | ATP6V0A2 |
| 147480 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 | ATP8B1 |
| 211600 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 | ATP8B1 |
| 243300 | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 | ATP8B1 |
| 183090 | SPINOCEREBELLAR ATAXIA 2; SCA2 | ATXN2 |
| 109150 | MACHADO-JOSEPH DISEASE; MJD | ATXN3 |
| 114550 | HEPATOCELLULAR CARCINOMA | AXIN1 |
| 607864 | CAUDAL DUPLICATION ANOMALY | AXIN1 |
| 261540 | PETERS-PLUS SYNDROME | B3GALTL |
| 607091 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D | B4GALT1 |
| 612954 | MYOPATHY, MYOFIBRILLAR 6, MFM6 | BAG3 |
| 613881 | CARDIOMYOPATHY, DILATED, 1HH; CMD1HH | BAG3 |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | BANK1 |
| 209900 | BARDET-BIEDL SYNDROME; BBS | BBS9 |
| 601583 | WILMS TUMOR 5; WT5 | BBS9 |
| 177400 | BUTYRYLCHOLINESTERASE; BCHE | BCHE |
| 142335 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5 | BCL11A |
| 115300 | HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT | BCMO1 |
| 209880 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS | BDNF |
| 610269 | BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2 | BDNF |
| 153700 | MACULAR DYSTROPHY, VITELLIFORM; VMD | BEST1 |
| 193220 | VITREORETINOCHOROIDOPATHY; VRCP | BEST1 |
| 608161 | MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET | BEST1 |
| 611809 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB | BEST1 |
| 613194 | RETINITIS PIGMENTOSA 50; RP50 | BEST1 |
| 601331 | RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD | BICC1 |
| 255200 | MYOPATHY, CENTRONUCLEAR, 2; CNM2 | BIN1 |
| 613375 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11 | BLK |
| 600625 | OROFACIAL CLEFT 11; OFC11 | BMP4 |
| 607932 | MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 | BMP4 |
| 611185 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6 | BTBD9 |
| 612387 | SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2 | BTNL2 |
| 217000 | COMPLEMENT COMPONENT 2 DEFICIENCY; C2D | C2 |
| 603075 | MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 | C2 |
| 611378 | MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9 | C3 |
| 612925 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5 | C3 |
| 613779 | COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D | C3 |
| 609536 | COMPLEMENT COMPONENT 5 DEFICIENCY; C5D | C5 |
| 105550 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS; FTDALS | C9orf72 |
| 601005 | TIMOTHY SYNDROME; TS | CACNA1C |
| 611875 | BRUGADA SYNDROME 3; BRGDA3 | CACNA1C |
| 170400 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 | CACNA1S |
| 188580 | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1 | CACNA1S |
| 601887 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | CACNA1S |
| 611876 | BRUGADA SYNDROME 4; BRGDA4 | CACNB2 |
| 253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A | CAPN3 |
| 212050 | CANDIDIASIS, FAMILIAL, 2; CANDF2 | CARD9 |
| 211980 | LUNG CANCER | CASP8 |
| 607271 | CASPASE 8 DEFICIENCY | CASP8 |
| 611938 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2 | CASQ2 |
| 145980 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 | CASR |
| 146200 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH | CASR |
| 239200 | HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT | CASR |
| 601199 | CALCIUM-SENSING RECEPTOR; CASR | CASR |
| 612899 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8 | CASR |
| 612526 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 | CAV1 |
| 613563 | NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC | CBL |
| 236200 | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | CBS |
| 607948 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | CCL2 |
| 254500 | MYELOMA, MULTIPLE | CCND1 |
| 609423 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CCR2 |
| 609423 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CCR5 |
| 610379 | WEST NILE VIRUS, SUSCEPTIBILITY TO | CCR5 |
| 612522 | DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22 | CCR5 |
| 613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | CD19 |
| 610163 | IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA | CD247 |
| 607832 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 | CD2AP |
| 248310 | PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL | CD36 |
| 608404 | PLATELET GLYCOPROTEIN IV DEFICIENCY | CD36 |
| 610938 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; CHDS7 | CD36 |
| 611162 | MALARIA, SUSCEPTIBILITY TO | CD36 |
| 606843 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 | CD40 |
| 609027 | INDIAN BLOOD GROUP SYSTEM; IN | CD44 |
| 612922 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2 | CD46 |
| 137215 | GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC | CDH1 |
| 167000 | OVARIAN CANCER | CDH1 |
| 608089 | ENDOMETRIAL CANCER | CDH1 |
| 276900 | USHER SYNDROME, TYPE I; USH1 | CDH23 |
| 601067 | USHER SYNDROME, TYPE ID; USH1D | CDH23 |
| 601386 | DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 | CDH23 |
| 612223 | STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11 | CDK6 |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | CDKAL1 |
| 610755 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4 | CDKN1B |
| 151623 | LI-FRAUMENI SYNDROME 1; LFS1 | CDKN2A |
| 155601 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2 | CDKN2A |
| 155755 | MELANOMA-ASTROCYTOMA SYNDROME | CDKN2A |
| 606719 | MELANOMA-PANCREATIC CANCER SYNDROME | CDKN2A |
| 614614 | DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B | CEACAM16 |
| 138972 | CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG | CEBPG |
| 143470 | HYPERALPHALIPOPROTEINEMIA 1; HALP1 | CETP |
| 603075 | MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 | CFB |
| 612924 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4 | CFB |
| 126700 | BASAL LAMINAR DRUSEN | CFH |
| 235400 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 | CFH |
| 609814 | COMPLEMENT FACTOR H DEFICIENCY; CFHD | CFH |
| 610698 | MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4 | CFH |
| 614809 | CFHR5 DEFICIENCY | CFHR5 |
| 610984 | COMPLEMENT FACTOR I DEFICIENCY; CFID | CFI |
| 612923 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3 | CFI |
| 214800 | CHARGE SYNDROME | CHD7 |
| 608765 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 | CHD7 |
| 612370 | HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5 | CHD7 |
| 114480 | BREAST CANCER | CHEK2 |
| 176807 | PROSTATE CANCER | CHEK2 |
| 259500 | OSTEOGENIC SARCOMA | CHEK2 |
| 604373 | CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2 | CHEK2 |
| 609265 | LI-FRAUMENI SYNDROME 2; LFS2 | CHEK2 |
| 611960 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7 | CHI3L1 |
| 100100 | ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND | CHRM3 |
| 612052 | SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3 | CHRNA3 |
| 600513 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1 | CHRNA4 |
| 612052 | SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3 | CHRNA5 |
| 253290 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS | CHRNG |
| 265000 | MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS | CHRNG |
| 605282 | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS | CHSY1 |
| 613630 | COCOON SYNDROME | CHUK |
| 209920 | BARE LYMPHOCYTE SYNDROME, TYPE II | CIITA |
| 614431 | VENTRICULAR SEPTAL DEFECT 2; VSD2 | CITED2 |
| 614433 | ATRIAL SEPTAL DEFECT 8; ASD8 | CITED2 |
| 614035 | DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29 | CLDN14 |
| 204200 | CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 | CLN3 |
| 613882 | HYPOMAGNESEMIA 6, RENAL; HOMG6 | CNNM2 |
| 612540 | MYOPATHY, CONGENITAL, COMPTON-NORTH | CNTN1 |
| 156500 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS | COL10A1 |
| 154780 | MARSHALL SYNDROME; MRSHS | COL11A1 |
| 228520 | FIBROCHONDROGENESIS 1; FBCG1 | COL11A1 |
| 604841 | STICKLER SYNDROME, TYPE II; STL2 | COL11A1 |
| 184840 | STICKLER SYNDROME, TYPE III; STL3 | COL11A2 |
| 215150 | OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED | COL11A2 |
| 277610 | WEISSENBACHER-ZWEYMULLER SYNDROME; WZS | COL11A2 |
| 601868 | DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13 | COL11A2 |
| 609706 | DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53 | COL11A2 |
| 614524 | FIBROCHONDROGENESIS 2; FBCG2 | COL11A2 |
| 226650 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE | COL17A1 |
| 175780 | PORENCEPHALY 1; POREN1 | COL4A1 |
| 607595 | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | COL4A1 |
| 611773 | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; | COL4A1 |
| 614483 | PORENCEPHALY 2; POREN2 | COL4A2 |
| 614519 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH | COL4A2 |
| 104200 | ALPORT SYNDROME, AUTOSOMAL DOMINANT | COL4A3 |
| 141200 | HEMATURIA, BENIGN FAMILIAL; BFH | COL4A3 |
| 203780 | ALPORT SYNDROME, AUTOSOMAL RECESSIVE | COL4A3 |
| 141200 | HEMATURIA, BENIGN FAMILIAL; BFH | COL4A4 |
| 203780 | ALPORT SYNDROME, AUTOSOMAL RECESSIVE | COL4A4 |
| 130000 | EHLERS-DANLOS SYNDROME, TYPE I | COL5A1 |
| 130010 | EHLERS-DANLOS SYNDROME, TYPE II | COL5A1 |
| 136800 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 | COL8A2 |
| 609140 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2 | COL8A2 |
| 212070 | CARBOXYPEPTIDASE N DEFICIENCY | CPN1 |
| 237300 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO | CPS1 |
| 255120 | CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY | CPT1A |
| 607486 | KNOPS BLOOD GROUP SYSTEM; KN | CR1 |
| 611162 | MALARIA, SUSCEPTIBILITY TO | CR1 |
| 172870 | PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA | CRB1 |
| 268000 | RETINITIS PIGMENTOSA; RP | CRB1 |
| 600105 | RETINITIS PIGMENTOSA 12; RP12 | CRB1 |
| 613835 | LEBER CONGENITAL AMAUROSIS 8; LCA8 | CRB1 |
| 105150 | CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED | CST3 |
| 611953 | MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11 | CST3 |
| 607936 | EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF | CSTA |
| 612199 | CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC | CTC1 |
| 109100 | AUTOIMMUNE DISEASE | CTLA4 |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | CTLA4 |
| 601388 | DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 | CTLA4 |
| 609755 | CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 | CTLA4 |
| 610424 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | CTLA4 |
| 114500 | COLORECTAL CANCER; CRC | CTNNB1 |
| 132600 | PILOMATRIXOMA | CTNNB1 |
| 155255 | MEDULLOBLASTOMA; MDB | CTNNB1 |
| 156240 | MESOTHELIOMA, MALIGNANT; MESOM | CTNNB1 |
| 167000 | OVARIAN CANCER | CTNNB1 |
| 181030 | SALIVARY GLAND ADENOMA, PLEOMORPHIC | CTNNB1 |
| 265800 | PYCNODYSOSTOSIS | CTSK |
| 261100 | MEGALOBLASTIC ANEMIA 1 | CUBN |
| 132700 | CYLINDROMATOSIS, FAMILIAL | CYLD |
| 601606 | TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 | CYLD |
| 605041 | BROOKE-SPIEGLER SYNDROME; BRSS | CYLD |
| 202110 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY | CYP17A1 |
| 139300 | AROMATASE EXCESS SYNDROME; AEXS | CYP19A1 |
| 613546 | AROMATASE DEFICIENCY | CYP19A1 |
| 124060 | CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2 | CYP1A2 |
| 143880 | HYPERCALCEMIA, INFANTILE | CYP24A1 |
| 264700 | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A | CYP27B1 |
| 122720 | CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6 | CYP2A6 |
| 609535 | DRUG METABOLISM, POOR, CYP2C19-RELATED | CYP2C19 |
| 600081 | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B | CYP2R1 |
| 210370 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | CYP4V2 |
| 608687 | SPINOCEREBELLAR ATAXIA 20; SCA20 | DAGLA |
| 110700 | BLOOD GROUP, DUFFY SYSTEM; FY | DARC |
| 611162 | MALARIA, SUSCEPTIBILITY TO | DARC |
| 611862 | WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1 | DARC |
| 223360 | DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL | DBH |
| 300240 | HOYERAAL-HREIDARSSON SYNDROME; HHS | DCLRE1B |
| 608643 | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY | DDC |
| 607084 | DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31 | DFNB31 |
| 611383 | USHER SYNDROME, TYPE IID; USH2D | DFNB31 |
| 251880 | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 | DGUOK |
| 270400 | SMITH-LEMLI-OPITZ SYNDROME; SLOS | DHCR7 |
| 233420 | 46,XY SEX REVERSAL 7; SRXY7 | DHH |
| 607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | DHH |
| 138800 | GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; | DICER1 |
| 601200 | PLEUROPULMONARY BLASTOMA; PPB | DICER1 |
| 147892 | DEIODINASE, IODOTHYRONINE, TYPE I; DIO1 | DIO1 |
| 267000 | PERLMAN SYNDROME; PRLMNS | DIS3L2 |
| 181500 | SCHIZOPHRENIA; SCZD | DISC1 |
| 604906 | SCHIZOPHRENIA 9; SCZD9 | DISC1 |
| 248600 | MAPLE SYRUP URINE DISEASE; MSUD | DLD |
| 154230 | 46,XY SEX REVERSAL 4; SRXY4 | DMRT1 |
| 273300 | TESTICULAR GERM CELL TUMOR; TGCT | DMRT1 |
| 244400 | CILIARY DYSKINESIA, PRIMARY, 1; CILD1 | DNAH11 |
| 611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | DNAH11 |
| 242860 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | DNMT3B |
| 614219 | ADAMS-OLIVER SYNDROME 2; AOS2 | DOCK6 |
| 243700 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE | DOCK8 |
| 614113 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2 | DOCK8 |
| 612937 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O | DPM3 |
| 274270 | DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY | DPYD |
| 223800 | DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC | DYM |
| 607326 | SMITH-MCCORT DYSPLASIA; SMC | DYM |
| 305100 | ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED | EDA |
| 313500 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 | EDA |
| 209880 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS | EDN3 |
| 613265 | WAARDENBURG SYNDROME, TYPE 4B; WS4B | EDN3 |
| 613712 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4 | EDN3 |
| 142623 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 | EDNRB |
| 277580 | WAARDENBURG SYNDROME, TYPE 4A; WS4A | EDNRB |
| 600155 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 | EDNRB |
| 600501 | ABCD SYNDROME; ABCDS | EDNRB |
| 126600 | DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD | EFEMP1 |
| 145900 | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | EGR2 |
| 605253 | NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL | EGR2 |
| 607678 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D | EGR2 |
| 611868 | PROSTATE CANCER, HEREDITARY, 12; HPC12 | EHBP1 |
| 226980 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS | EIF2AK3 |
| 613684 | RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 | EP300 |
| 611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | EPAS1 |
| 116600 | CATARACT, POSTERIOR POLAR, 1; CTPP1 | EPHA2 |
| 613020 | CATARACT, AGE-RELATED CORTICAL, 2; ARCC2 | EPHA2 |
| 114500 | COLORECTAL CANCER; CRC | EPHA3 |
| 612623 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2 | EPO |
| 607598 | LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 | ERBB3 |
| 188550 | THYROID CARCINOMA, PAPILLARY | ERC1 |
| 612219 | EWING SARCOMA; ES | ERG |
| 231680 | MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | ETFDH |
| 131440 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | ETV6 |
| 601626 | LEUKEMIA, ACUTE MYELOID; AML | ETV6 |
| 227600 | FACTOR X DEFICIENCY | F10 |
| 612416 | FACTOR XI DEFICIENCY | F11 |
| 234000 | FACTOR XII DEFICIENCY | F12 |
| 610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | F12 |
| 613225 | FACTOR XIII, A SUBUNIT, DEFICIENCY OF | F13A1 |
| 613235 | FACTOR XIII, B SUBUNIT, DEFICIENCY OF | F13B |
| 188055 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 | F5 |
| 227400 | FACTOR V DEFICIENCY | F5 |
| 600880 | BUDD-CHIARI SYNDROME; BDCHS | F5 |
| 601367 | STROKE, ISCHEMIC | F5 |
| 614389 | PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1 | F5 |
| 227500 | FACTOR VII DEFICIENCY | F7 |
| 134500 | FACTOR VIII DEFICIENCY | F8 |
| 306700 | HEMOPHILIA A; HEMA | F8 |
| 614083 | FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL | FANCL |
| 601859 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS | FASLG |
| 608180 | SYNPOLYDACTYLY 2; SPD2 | FBLN1 |
| 219100 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A | FBLN5 |
| 608895 | MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3 | FBLN5 |
| 614434 | CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2 | FBLN5 |
| 102370 | ACROMICRIC DYSPLASIA; ACMICD | FBN1 |
| 129600 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 | FBN1 |
| 154700 | MARFAN SYNDROME; MFS | FBN1 |
| 182212 | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS | FBN1 |
| 184900 | STIFF SKIN SYNDROME; SSKS | FBN1 |
| 604308 | MASS SYNDROME | FBN1 |
| 608328 | WEILL-MARCHESANI SYNDROME 2; WMS2 | FBN1 |
| 614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | FBN1 |
| 260300 | PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15 | FBXO7 |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | FCGR2B |
| 611162 | MALARIA, SUSCEPTIBILITY TO | FCGR2B |
| 180300 | RHEUMATOID ARTHRITIS; RA | FCRL3 |
| 105200 | AMYLOIDOSIS, FAMILIAL VISCERAL | FGA |
| 134820 | FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA | FGA |
| 202400 | AFIBRINOGENEMIA, CONGENITAL | FGA |
| 202400 | AFIBRINOGENEMIA, CONGENITAL | FGB |
| 149730 | LACRIMOAURICULODENTODIGITAL SYNDROME; LADD | FGF10 |
| 180920 | APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG | FGF10 |
| 193100 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR | FGF23 |
| 211900 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC | FGF23 |
| 610706 | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | FGF3 |
| 612961 | MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3 | FGF9 |
| 101200 | APERT SYNDROME | FGFR2 |
| 101600 | PFEIFFER SYNDROME | FGFR2 |
| 123150 | JACKSON-WEISS SYNDROME; JWS | FGFR2 |
| 123500 | CROUZON SYNDROME | FGFR2 |
| 123790 | BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS | FGFR2 |
| 149730 | LACRIMOAURICULODENTODIGITAL SYNDROME; LADD | FGFR2 |
| 207410 | ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; | FGFR2 |
| 609579 | SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION | FGFR2 |
| 614592 | BENT BONE DYSPLASIA SYNDROME; BBDS | FGFR2 |
| 100800 | ACHONDROPLASIA; ACH | FGFR3 |
| 109800 | BLADDER CANCER | FGFR3 |
| 146000 | HYPOCHONDROPLASIA; HCH | FGFR3 |
| 149730 | LACRIMOAURICULODENTODIGITAL SYNDROME; LADD | FGFR3 |
| 162900 | NEVUS, EPIDERMAL | FGFR3 |
| 182000 | KERATOSIS, SEBORRHEIC | FGFR3 |
| 187600 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | FGFR3 |
| 187601 | THANATOPHORIC DYSPLASIA, TYPE II; TD2 | FGFR3 |
| 254500 | MYELOMA, MULTIPLE | FGFR3 |
| 273300 | TESTICULAR GERM CELL TUMOR; TGCT | FGFR3 |
| 602849 | MUENKE SYNDROME; MNKES | FGFR3 |
| 603956 | CERVICAL CANCER | FGFR3 |
| 610474 | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | FGFR3 |
| 612247 | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN | FGFR3 |
| 202400 | AFIBRINOGENEMIA, CONGENITAL | FGG |
| 253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE | FKTN |
| 611588 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4 | FKTN |
| 611615 | CARDIOMYOPATHY, DILATED, 1X; CMD1X | FKTN |
| 613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), | FKTN |
| 146700 | ICHTHYOSIS VULGARIS | FLG |
| 605803 | DERMATITIS, ATOPIC, 2; ATOD2 | FLG |
| 612219 | EWING SARCOMA; ES | FLI1 |
| 300623 | FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS | FMR1 |
| 300624 | FRAGILE X MENTAL RETARDATION SYNDROME | FMR1 |
| 311360 | PREMATURE OVARIAN FAILURE 1; POF1 | FMR1 |
| 241850 | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE | FOXE1 |
| 265380 | ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; | FOXF1 |
| 110100 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES | FOXL2 |
| 608996 | PREMATURE OVARIAN FAILURE 3; POF3 | FOXL2 |
| 268220 | RHABDOMYOSARCOMA 2; RMS2 | FOXO1 |
| 233300 | OVARIAN DYSGENESIS 1; ODG1 | FSHR |
| 608115 | OVARIAN HYPERSTIMULATION SYNDROME | FSHR |
| 134770 | FERRITIN HEAVY CHAIN 1; FTH1 | FTH1 |
| 612938 | GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY | FTO |
| 211100 | FUCOSYLTRANSFERASE 1; FUT1 | FUT1 |
| 182100 | FUCOSYLTRANSFERASE 2; FUT2 | FUT2 |
| 612542 | VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1 | FUT2 |
| 111100 | FUCOSYLTRANSFERASE 3; FUT3 | FUT3 |
| 613852 | FUCOSYLTRANSFERASE 6 DEFICIENCY | FUT6 |
| 612108 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1 | G6PC2 |
| 305900 | GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD | G6PD |
| 245200 | KRABBE DISEASE | GALC |
| 211900 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC | GALNT3 |
| 614038 | LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA | GATA2 |
| 614172 | DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE | GATA2 |
| 614286 | MYELODYSPLASTIC SYNDROME; MDS | GATA2 |
| 187500 | TETRALOGY OF FALLOT; TOF | GATA6 |
| 217095 | CONOTRUNCAL HEART MALFORMATIONS; CTHM | GATA6 |
| 600001 | PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD | GATA6 |
| 614474 | ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5 | GATA6 |
| 614475 | ATRIAL SEPTAL DEFECT 9; ASD9 | GATA6 |
| 614672 | CARDIOMYOPATHY, DILATED, 2B; CMD2B | GATAD1 |
| 612718 | ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY | GATM |
| 168600 | PARKINSON DISEASE, LATE-ONSET; PD | GBA |
| 230800 | GAUCHER DISEASE, TYPE I | GBA |
| 230900 | GAUCHER DISEASE, TYPE II | GBA |
| 231000 | GAUCHER DISEASE, TYPE III | GBA |
| 231005 | GAUCHER DISEASE, TYPE IIIC | GBA |
| 608013 | GAUCHER DISEASE, PERINATAL LETHAL | GBA |
| 139200 | GROUP-SPECIFIC COMPONENT; GC | GC |
| 231670 | GLUTARIC ACIDEMIA I | GCDH |
| 125851 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 | GCK |
| 602485 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 | GCK |
| 606391 | MATURITY-ONSET DIABETES OF THE YOUNG; MODY | GCK |
| 613463 | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5; FGQTL5 | GCKR |
| 112500 | BRACHYDACTYLY, TYPE A1; BDA1 | GDF5 |
| 112600 | BRACHYDACTYLY, TYPE A2; BDA2 | GDF5 |
| 113100 | BRACHYDACTYLY, TYPE C; BDC | GDF5 |
| 185800 | SYMPHALANGISM, PROXIMAL; SYM1 | GDF5 |
| 200700 | CHONDRODYSPLASIA, GREBE TYPE | GDF5 |
| 201250 | ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE | GDF5 |
| 228900 | FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY | GDF5 |
| 610017 | MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2 | GDF5 |
| 612400 | OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5 | GDF5 |
| 277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1 | GGCX |
| 610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR | GGCX |
| 231950 | GLUTATHIONURIA | GGT1 |
| 604271 | SHORT STATURE, IDIOPATHIC, AUTOSOMAL | GHSR |
| 164200 | OCULODENTODIGITAL DYSPLASIA; ODDD | GJA1 |
| 186100 | SYNDACTYLY, TYPE III | GJA1 |
| 234100 | HALLERMANN-STREIFF SYNDROME; HSS | GJA1 |
| 241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | GJA1 |
| 257850 | OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | GJA1 |
| 600309 | ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3 | GJA1 |
| 230500 | GM1-GANGLIOSIDOSIS, TYPE I | GLB1 |
| 230600 | GM1-GANGLIOSIDOSIS, TYPE II | GLB1 |
| 230650 | GM1-GANGLIOSIDOSIS, TYPE III | GLB1 |
| 253010 | MUCOPOLYSACCHARIDOSIS TYPE IVB | GLB1 |
| 610829 | HOLOPROSENCEPHALY 9; HPE9 | GLI2 |
| 610199 | DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM | GLIS3 |
| 102200 | PITUITARY ADENOMA, GROWTH HORMONE-SECRETING | GNAS |
| 103580 | PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A | GNAS |
| 114500 | COLORECTAL CANCER; CRC | GNAS |
| 139320 | GNAS COMPLEX LOCUS; GNAS | GNAS |
| 166350 | OSSEOUS HETEROPLASIA, PROGRESSIVE; POH | GNAS |
| 174800 | MCCUNE-ALBRIGHT SYNDROME; MAS | GNAS |
| 219080 | ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH | GNAS |
| 603233 | PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B | GNAS |
| 612462 | PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C | GNAS |
| 614018 | EPILEPSY, PROGRESSIVE MYOCLONIC 6; EPM6 | GOSR2 |
| 614419 | ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS | GOT1 |
| 153670 | BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2 | GP1BA |
| 177820 | PSEUDO-VON WILLEBRAND DISEASE; VWDP | GP1BA |
| 231200 | BERNARD-SOULIER SYNDROME; BSS | GP1BA |
| 258660 | NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO | GP1BA |
| 614201 | BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11 | GP6 |
| 258315 | OMODYSPLASIA 1; OMOD1 | GPC6 |
| 606255 | STATURE AS A QUANTITATIVE TRAIT | GPR126 |
| 614565 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E | GPR179 |
| 604352 | FEBRILE SEIZURES, FAMILIAL, 4; FEB4 | GPR98 |
| 605472 | USHER SYNDROME, TYPE IIC; USH2C | GPR98 |
| 601228 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 | GREM1 |
| 613971 | EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND | GRIN2A |
| 613970 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6 | GRIN2B |
| 607485 | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED | GRN |
| 614706 | CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11 | GRN |
| 231900 | GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA | GSS |
| 266130 | GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD | GSS |
| 140700 | HEINZ BODY ANEMIAS | HBB |
| 141900 | HEMOGLOBIN--BETA LOCUS; HBB | HBB |
| 603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | HBB |
| 603903 | SICKLE CELL ANEMIA | HBB |
| 613985 | BETA-THALASSEMIA | HBB |
| 613977 | CYANOSIS, TRANSIENT NEONATAL; TNCY | HBG2 |
| 163800 | SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2 | HCN4 |
| 613123 | BRUGADA SYNDROME 8; BRGDA8 | HCN4 |
| 600430 | BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR | HDAC4 |
| 227220 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 | HERC2 |
| 176200 | PORPHYRIA VARIEGATA | HFE |
| 235200 | HEMOCHROMATOSIS; HFE | HFE |
| 612635 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7 | HFE |
| 614193 | TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2 | HFE |
| 612226 | STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13 | HHIP |
| 235700 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | HK1 |
| 608579 | SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO | HLA-A |
| 106300 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 | HLA-B |
| 608579 | SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO | HLA-B |
| 177900 | PSORIASIS SUSCEPTIBILITY 1; PSORS1 | HLA-C |
| 610424 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | HLA-DRA |
| 181000 | SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1 | HLA-DRB1 |
| 609532 | HEPATITIS C VIRUS, SUSCEPTIBILITY TO | HLA-DRB1 |
| 150699 | LEIOMYOMA, UTERINE; UL | HMGA2 |
| 611547 | STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9 | HMGA2 |
| 142910 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR | HMGCR |
| 142330 | HEPATIC ADENOMAS, FAMILIAL | HNF1A |
| 600496 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 | HNF1A |
| 606391 | MATURITY-ONSET DIABETES OF THE YOUNG; MODY | HNF1A |
| 612520 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20 | HNF1A |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | HNF1B |
| 137920 | RENAL CYSTS AND DIABETES SYNDROME | HNF1B |
| 611955 | PROSTATE CANCER, HEREDITARY, 11; HPC11 | HNF1B |
| 125850 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1 | HNF4A |
| 606391 | MATURITY-ONSET DIABETES OF THE YOUNG; MODY | HNF4A |
| 614081 | ANHAPTOGLOBINEMIA; AHP | HP |
| 140350 | HAWKINSINURIA | HPD |
| 276710 | TYROSINEMIA, TYPE III | HPD |
| 614074 | HERMANSKY-PUDLAK SYNDROME 5; HPS5 | HPS5 |
| 613116 | THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11 | HRG |
| 614674 | PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT | HTR1A |
| 600142 | CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS | HTRA1 |
| 610149 | MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7 | HTRA1 |
| 611162 | MALARIA, SUSCEPTIBILITY TO | ICAM1 |
| 607594 | IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1 | ICOS |
| 607014 | HURLER SYNDROME | IDUA |
| 607015 | HURLER-SCHEIE SYNDROME | IDUA |
| 607016 | SCHEIE SYNDROME | IDUA |
| 610155 | DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19 | IFIH1 |
| 610424 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | IFNAR2 |
| 609135 | APLASTIC ANEMIA | IFNG |
| 209950 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL | IFNGR2 |
| 608747 | INSULIN-LIKE GROWTH FACTOR I DEFICIENCY | IGF1 |
| 270450 | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO | IGF1R |
| 180860 | SILVER-RUSSELL SYNDROME; SRS | IGF2 |
| 601489 | INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS | IGFALS |
| 614224 | RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS; | IGFBP7 |
| 254500 | MYELOMA, MULTIPLE | IGHG1 |
| 112500 | BRACHYDACTYLY, TYPE A1; BDA1 | IHH |
| 607778 | ACROCAPITOFEMORAL DYSPLASIA; ACFD | IHH |
| 614395 | GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS | IL10 |
| 610424 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | IL10RB |
| 612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | IL10RB |
| 209950 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL | IL12B |
| 612599 | PSORIASIS SUSCEPTIBILITY 11; PSORS11 | IL12B |
| 607154 | ALLERGIC RHINITIS | IL13 |
| 613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | IL17F |
| 612628 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4 | IL1RN |
| 612852 | OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; | IL1RN |
| 605606 | PSORIASIS SUSCEPTIBILITY 7; PSORS7 | IL23R |
| 612261 | INFLAMMATORY BOWEL DISEASE 17; IBD17 | IL23R |
| 601942 | DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10 | IL2RA |
| 606367 | INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF | IL2RA |
| 613955 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2 | IL31RA |
| 601367 | STROKE, ISCHEMIC | IL4 |
| 148000 | KAPOSI SARCOMA, SUSCEPTIBILITY TO | IL6 |
| 604302 | RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE | IL6 |
| 614689 | SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT | IL6R |
| 614752 | INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS | IL6R |
| 608971 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | IL7R |
| 612595 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3 | IL7R |
| 213300 | JOUBERT SYNDROME; JBTS | INPP5E |
| 610156 | MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS | INPP5E |
| 125852 | DIABETES MELLITUS, INSULIN-DEPENDENT, 2 | INS |
| 176730 | INSULIN; INS | INS |
| 606176 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | INS |
| 613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | INS |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | INSR |
| 246200 | DONOHUE SYNDROME | INSR |
| 262190 | PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC | INSR |
| 609968 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 | INSR |
| 610549 | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS | INSR |
| 607676 | IRAK4 DEFICIENCY | IRAK4 |
| 610799 | INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 | IRAK4 |
| 613659 | GASTRIC CANCER | IRF1 |
| 254500 | MYELOMA, MULTIPLE | IRF4 |
| 180300 | RHEUMATOID ARTHRITIS; RA | IRF5 |
| 612245 | INFLAMMATORY BOWEL DISEASE 14; IBD14 | IRF5 |
| 612251 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10 | IRF5 |
| 119300 | VAN DER WOUDE SYNDROME 1; VWS1 | IRF6 |
| 119500 | POPLITEAL PTERYGIUM SYNDROME; PPS | IRF6 |
| 608864 | OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 | IRF6 |
| 612278 | INFLAMMATORY BOWEL DISEASE 19; IBD19 | IRGM |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | IRS1 |
| 273800 | GLANZMANN THROMBASTHENIA; GT | ITGA2B |
| 226730 | EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA | ITGA6 |
| 609939 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6 | ITGAM |
| 613850 | INOSINE TRIPHOSPHATASE DEFICIENCY | ITPA |
| 611775 | KAWASAKI DISEASE | ITPKC |
| 243500 | ISOVALERIC ACIDEMIA; IVA | IVD |
| 118450 | ALAGILLE SYNDROME 1; ALGS1 | JAG1 |
| 187500 | TETRALOGY OF FALLOT; TOF | JAG1 |
| 601920 | JAGGED 1; JAG1 | JAG1 |
| 254450 | MYELOFIBROSIS | JAK2 |
| 263300 | POLYCYTHEMIA VERA | JAK2 |
| 600880 | BUDD-CHIARI SYNDROME; BDCHS | JAK2 |
| 601626 | LEUKEMIA, ACUTE MYELOID; AML | JAK2 |
| 614521 | THROMBOCYTHEMIA 3; THCYT3 | JAK2 |
| 608901 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 | KALRN |
| 612347 | JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2 | KCNE1 |
| 613695 | LONG QT SYNDROME 5; LQT5 | KCNE1 |
| 611493 | ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 | KCNE2 |
| 613693 | LONG QT SYNDROME 6; LQT6 | KCNE2 |
| 609620 | SHORT QT SYNDROME 1; SQT1 | KCNH2 |
| 613688 | LONG QT SYNDROME 2; LQT2 | KCNH2 |
| 601820 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 | KCNJ11 |
| 606176 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | KCNJ11 |
| 610582 | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | KCNJ11 |
| 170390 | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS | KCNJ2 |
| 609622 | SHORT QT SYNDROME 3; SQT3 | KCNJ2 |
| 613980 | ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9 | KCNJ2 |
| 609446 | GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD | KCNMA1 |
| 192500 | LONG QT SYNDROME 1; LQT1 | KCNQ1 |
| 220400 | JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 | KCNQ1 |
| 607554 | ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 | KCNQ1 |
| 609621 | SHORT QT SYNDROME 2; SQT2 | KCNQ1 |
| 610356 | RETINAL CONE DYSTROPHY 3B; RCD3B | KCNV2 |
| 118210 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 | KIF1B |
| 171300 | PHEOCHROMOCYTOMA | KIF1B |
| 256700 | NEUROBLASTOMA, SUSCEPTIBILITY TO | KIF1B |
| 603546 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2 | KIF22 |
| 172800 | PIEBALD TRAIT; PBT | KIT |
| 273300 | TESTICULAR GERM CELL TUMOR; TGCT | KIT |
| 601626 | LEUKEMIA, ACUTE MYELOID; AML | KIT |
| 606764 | GASTROINTESTINAL STROMAL TUMOR; GIST | KIT |
| 145250 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2; FPH2 | KITLG |
| 611664 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7 | KITLG |
| 236000 | LYMPHOMA, HODGKIN | KLHDC8B |
| 612423 | PREKALLIKREIN DEFICIENCY | KLKB1 |
| 228960 | HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | KNG1 |
| 215600 | CIRRHOSIS, FAMILIAL | KRT8 |
| 607855 | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | LAMA2 |
| 136120 | FISH-EYE DISEASE; FED | LCAT |
| 245900 | LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY | LCAT |
| 612933 | GLYCOGEN STORAGE DISEASE XI; GSD11 | LDHA |
| 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL | LDLR |
| 603813 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | LDLRAP1 |
| 176410 | PRECOCIOUS PUBERTY, MALE-LIMITED | LHCGR |
| 238320 | LEYDIG CELL HYPOPLASIA, TYPE I | LHCGR |
| 221750 | PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 | LHX3 |
| 278000 | LYSOSOMAL ACID LIPASE DEFICIENCY | LIPA |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | LIPC |
| 612797 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | LIPC |
| 614025 | HEPATIC LIPASE DEFICIENCY | LIPC |
| 601098 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C | LITAF |
| 246650 | LIPASE DEFICIENCY, COMBINED | LMF1 |
| 177650 | EXFOLIATION SYNDROME; XFS | LOXL1 |
| 152200 | APOLIPOPROTEIN(a); LPA | LPA |
| 238600 | HYPERLIPOPROTEINEMIA, TYPE I | LPL |
| 212780 | CENANI-LENZ SYNDACTYLY SYNDROME; CLSS | LRP4 |
| 614305 | SCLEROSTEOSIS 2; SOST2 | LRP4 |
| 144750 | HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS | LRP5 |
| 166710 | OSTEOPOROSIS | LRP5 |
| 259770 | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG | LRP5 |
| 601813 | EXUDATIVE VITREORETINOPATHY 4; EVR4 | LRP5 |
| 601884 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1 | LRP5 |
| 607634 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1 | LRP5 |
| 607636 | VAN BUCHEM DISEASE, TYPE 2 | LRP5 |
| 168600 | PARKINSON DISEASE, LATE-ONSET; PD | LRRK2 |
| 607060 | PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8 | LRRK2 |
| 607507 | PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO | LTA |
| 610988 | LEPROSY, SUSCEPTIBILITY TO, 4; LPRS4 | LTA |
| 251750 | MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH | LTBP2 |
| 613086 | GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D | LTBP2 |
| 614819 | WEILL-MARCHESANI SYNDROME 3; WMS3 | LTBP2 |
| 613097 | TOOTH AGENESIS, SELECTIVE, 6; STHAG6 | LTBP3 |
| 610202 | CATARACT, PULVERULENT, JUVENILE-ONSET | MAF |
| 166300 | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO | MAFB |
| 300758 | HYPOSPADIAS 2, X-LINKED; HYSP2 | MAMLD1 |
| 248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | MANBA |
| 613762 | 46,XY SEX REVERSAL 6; SRXY6 | MAP3K1 |
| 606369 | EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE | MAPK10 |
| 172700 | PICK DISEASE OF BRAIN | MAPT |
| 260540 | PARKINSON-DEMENTIA SYNDROME | MAPT |
| 600274 | FRONTOTEMPORAL DEMENTIA; FTD | MAPT |
| 601104 | SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 | MAPT |
| 610424 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | MBL2 |
| 614372 | MANNOSE-BINDING PROTEIN DEFICIENCY | MBL2 |
| 160900 | MYOTONIC DYSTROPHY 1; DM1 | MBNL1 |
| 266300 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2 | MC1R |
| 613098 | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC | MC1R |
| 613099 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5 | MC1R |
| 601665 | OBESITY | MC4R |
| 210200 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | MCCC1 |
| 251200 | MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 | MCPH1 |
| 105830 | ANGELMAN SYNDROME; AS | MECP2 |
| 300055 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 | MECP2 |
| 300260 | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL | MECP2 |
| 300496 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3 | MECP2 |
| 300673 | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | MECP2 |
| 312750 | RETT SYNDROME; RTT | MECP2 |
| 613443 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 | MEF2C |
| 612853 | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7; RLS7 | MEIS1 |
| 131100 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 | MEN1 |
| 145000 | HYPERPARATHYROIDISM 1; HRPT1 | MEN1 |
| 613862 | RETINITIS PIGMENTOSA 38; RP38 | MERTK |
| 601152 | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI | MFN2 |
| 609260 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 | MFN2 |
| 177900 | PSORIASIS SUSCEPTIBILITY 1; PSORS1 | MICA |
| 607507 | PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO | MICA |
| 180300 | RHEUMATOID ARTHRITIS; RA | MICB |
| 604302 | RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE | MIF |
| 114500 | COLORECTAL CANCER; CRC | MLH3 |
| 614385 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7 | MLH3 |
| 609227 | GRISCELLI SYNDROME, TYPE 3; GS3 | MLPH |
| 251110 | METHYLMALONIC ACIDURIA, cblB TYPE | MMAB |
| 603932 | INTERVERTEBRAL DISC DISEASE; IDD | MMP9 |
| 613073 | METAPHYSEAL ANADYSPLASIA 2; MANDP2 | MMP9 |
| 614250 | NARCOLEPSY 7; NRCLP7 | MOG |
| 609180 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F | MPDU1 |
| 611928 | PROSTATE CANCER, HEREDITARY, 13; HPC13 | MSMB |
| 613718 | DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74 | MSRB3 |
| 112250 | DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; | MTAP |
| 236250 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE | MTHFR |
| 601367 | STROKE, ISCHEMIC | MTHFR |
| 601634 | NEURAL TUBE DEFECTS, FOLATE-SENSITIVE | MTHFR |
| 603174 | HOMOCYSTEINEMIA | MTHFR |
| 260920 | HYPER-IgD SYNDROME; HIDS | MVK |
| 610377 | MEVALONIC ACIDURIA; MEVA | MVK |
| 113970 | BURKITT LYMPHOMA; BL | MYC |
| 164280 | FEINGOLD SYNDROME 1; FGLDS1 | MYCN |
| 613251 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14 | MYH6 |
| 613252 | CARDIOMYOPATHY, DILATED, 1EE; CMD1EE | MYH6 |
| 614089 | ATRIAL SEPTAL DEFECT 3; ASD3 | MYH6 |
| 614090 | SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3 | MYH6 |
| 160500 | MYOPATHY, DISTAL, 1; MPD1 | MYH7 |
| 181430 | SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM | MYH7 |
| 192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | MYH7 |
| 608358 | MYOPATHY, MYOSIN STORAGE | MYH7 |
| 613426 | CARDIOMYOPATHY, DILATED, 1S; CMD1S | MYH7 |
| 153640 | FECHTNER SYNDROME; FTNS | MYH9 |
| 153650 | EPSTEIN SYNDROME | MYH9 |
| 155100 | MAY-HEGGLIN ANOMALY; MHA | MYH9 |
| 600208 | MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS | MYH9 |
| 603622 | DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17 | MYH9 |
| 605249 | SEBASTIAN SYNDROME; SBS | MYH9 |
| 608758 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 | MYL2 |
| 614131 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6 | MYO1E |
| 606346 | DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22 | MYO6 |
| 607821 | DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37 | MYO6 |
| 609753 | CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4 | MYO9B |
| 243400 | ACETYLATION, SLOW | NAT2 |
| 609148 | MALARIA, MILD, SUSCEPTIBILITY TO | NCR3 |
| 612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL | NFKBIA |
| 180300 | RHEUMATOID ARTHRITIS; RA | NFKBIL1 |
| 118700 | CHOREA, BENIGN HEREDITARY; BHC | NKX2-1 |
| 610978 | CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS | NKX2-1 |
| 108900 | ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION | NKX2-5 |
| 187500 | TETRALOGY OF FALLOT; TOF | NKX2-5 |
| 217095 | CONOTRUNCAL HEART MALFORMATIONS; CTHM | NKX2-5 |
| 225250 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5 | NKX2-5 |
| 614432 | VENTRICULAR SEPTAL DEFECT 3; VSD3 | NKX2-5 |
| 614435 | HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 | NKX2-5 |
| 120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | NLRP3 |
| 191900 | MUCKLE-WELLS SYNDROME; MWS | NLRP3 |
| 607115 | CINCA SYNDROME; CINCA | NLRP3 |
| 231090 | HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1 | NLRP7 |
| 186580 | BLAU SYNDROME | NOD2 |
| 266600 | INFLAMMATORY BOWEL DISEASE 1; IBD1 | NOD2 |
| 609464 | SARCOIDOSIS, EARLY-ONSET | NOD2 |
| 184460 | STAPES ANKYLOSIS WITH BROAD THUMB AND TOES | NOG |
| 185800 | SYMPHALANGISM, PROXIMAL; SYM1 | NOG |
| 186500 | MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 | NOG |
| 186570 | TARSAL-CARPAL COALITION SYNDROME; TCC | NOG |
| 611377 | BRACHYDACTYLY, TYPE B2; BDB2 | NOG |
| 610141 | QT INTERVAL, VARIATION IN | NOS1AP |
| 611162 | MALARIA, SUSCEPTIBILITY TO | NOS2 |
| 102500 | HAJDU-CHENEY SYNDROME; HJCYS | NOTCH2 |
| 610205 | ALAGILLE SYNDROME 2; ALGS2 | NOTCH2 |
| 608516 | MAJOR DEPRESSIVE DISORDER; MDD | NPAS2 |
| 608010 | NPC1-LIKE 1; NPC1L1 | NPC1L1 |
| 208540 | RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD | NPHP3 |
| 267010 | MECKEL SYNDROME, TYPE 7; MKS7 | NPHP3 |
| 604387 | NEPHRONOPHTHISIS 3; NPHP3 | NPHP3 |
| 606966 | NEPHRONOPHTHISIS 4; NPHP4 | NPHP4 |
| 606996 | SENIOR-LOKEN SYNDROME 4; SLSN4 | NPHP4 |
| 612201 | ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6 | NPPA |
| 177735 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A | NR3C2 |
| 605115 | HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION | NR3C2 |
| 117550 | SOTOS SYNDROME 1; SOTOS1 | NSD1 |
| 130650 | BECKWITH-WIEDEMANN SYNDROME; BWS | NSD1 |
| 277590 | WEAVER SYNDROME 1; WVS1 | NSD1 |
| 211800 | CALCIFICATION OF JOINTS AND ARTERIES; CALJA | NT5E |
| 203200 | ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 | OCA2 |
| 227220 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 | OCA2 |
| 137760 | GLAUCOMA, PRIMARY OPEN ANGLE; POAG | OPTN |
| 606657 | GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO | OPTN |
| 613435 | AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12 | OPTN |
| 600807 | ASTHMA, SUSCEPTIBILITY TO | ORMDL3 |
| 180300 | RHEUMATOID ARTHRITIS; RA | PADI4 |
| 168600 | PARKINSON DISEASE, LATE-ONSET; PD | PARK2 |
| 600116 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 | PARK2 |
| 168600 | PARKINSON DISEASE, LATE-ONSET; PD | PARK7 |
| 606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | PARK7 |
| 122880 | CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS | PAX3 |
| 148820 | WAARDENBURG SYNDROME, TYPE 3; WS3 | PAX3 |
| 193500 | WAARDENBURG SYNDROME, TYPE 1; WS1 | PAX3 |
| 268220 | RHABDOMYOSARCOMA 2; RMS2 | PAX3 |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | PAX4 |
| 222100 | DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM | PAX4 |
| 612225 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 | PAX4 |
| 612227 | DIABETES MELLITUS, KETOSIS-PRONE; KPD | PAX4 |
| 268220 | RHABDOMYOSARCOMA 2; RMS2 | PAX7 |
| 218700 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 | PAX8 |
| 144700 | RENAL CELL CARCINOMA, NONPAPILLARY; RCC | PBRM1 |
| 606054 | PROPIONIC ACIDEMIA | PCCA |
| 606054 | PROPIONIC ACIDEMIA | PCCB |
| 276900 | USHER SYNDROME, TYPE I; USH1 | PCDH15 |
| 601067 | USHER SYNDROME, TYPE ID; USH1D | PCDH15 |
| 602083 | USHER SYNDROME, TYPE IF; USH1F | PCDH15 |
| 609533 | DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 | PCDH15 |
| 600955 | PROPROTEIN CONVERTASE 1/3 DEFICIENCY | PCSK1 |
| 612362 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12 | PCSK1 |
| 603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | PCSK9 |
| 610475 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 | PDE11A |
| 614613 | ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2 | PDE4D |
| 609161 | STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD | PDE8B |
| 614190 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3 | PDE8B |
| 606764 | GASTROINTESTINAL STROMAL TUMOR; GIST | PDGFRA |
| 607685 | HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES | PDGFRA |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | PDX1 |
| 260370 | PANCREATIC AGENESIS, CONGENITAL; PAGEN | PDX1 |
| 606392 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4 | PDX1 |
| 610245 | SPINOCEREBELLAR ATAXIA 23; SCA23 | PDYN |
| 170100 | PROLIDASE DEFICIENCY | PEPD |
| 214100 | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A | PEX1 |
| 601539 | PEROXISOME BIOGENESIS DISORDER 1B; PBD1B | PEX1 |
| 614870 | PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A | PEX10 |
| 614871 | PEROXISOME BIOGENESIS DISORDER 6B; PBD6B | PEX10 |
| 614883 | PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A | PEX13 |
| 614885 | PEROXISOME BIOGENESIS DISORDER 11B; PBD11B | PEX13 |
| 614866 | PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A | PEX2 |
| 614867 | PEROXISOME BIOGENESIS DISORDER 5B; PBD5B | PEX2 |
| 612934 | GLYCOGEN STORAGE DISEASE XIV; GSD14 | PGM1 |
| 307800 | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR | PHEX |
| 601815 | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY | PHGDH |
| 119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR | PITX1 |
| 137600 | IRIDOGONIODYSGENESIS, TYPE 2; IRID2 | PITX2 |
| 180500 | AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 | PITX2 |
| 180550 | RING DERMOID OF CORNEA; RDC | PITX2 |
| 604229 | PETERS ANOMALY | PITX2 |
| 102900 | ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES | PKLR |
| 266200 | PYRUVATE KINASE DEFICIENCY OF RED CELLS | PKLR |
| 256600 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A | PLA2G6 |
| 610217 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B | PLA2G6 |
| 612953 | PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14 | PLA2G6 |
| 147050 | IgE RESPONSIVENESS, ATOPIC; IGER | PLA2G7 |
| 600807 | ASTHMA, SUSCEPTIBILITY TO | PLA2G7 |
| 614278 | PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD | PLA2G7 |
| 181030 | SALIVARY GLAND ADENOMA, PLEOMORPHIC | PLAG1 |
| 613722 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12 | PLCB1 |
| 614669 | AURICULOCONDYLAR SYNDROME 2; ARCND2 | PLCB4 |
| 610725 | NEPHROTIC SYNDROME, TYPE 3; NPHS3 | PLCE1 |
| 611067 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4 | PLEKHG5 |
| 217090 | PLASMINOGEN DEFICIENCY, TYPE I | PLG |
| 609909 | CARDIOMYOPATHY, DILATED, 1P; CMD1P | PLN |
| 613874 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18 | PLN |
| 118220 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A | PMP22 |
| 118300 | CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS | PMP22 |
| 139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS | PMP22 |
| 145900 | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | PMP22 |
| 162500 | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP | PMP22 |
| 118800 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 | PNKD |
| 613282 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1; NAFLD1 | PNPLA3 |
| 610090 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | PNPO |
| 157640 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | POLG |
| 203700 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A | POLG |
| 256000 | LEIGH SYNDROME; LS | POLG |
| 258450 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | POLG |
| 607459 | SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO | POLG |
| 613662 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B | POLG |
| 601665 | OBESITY | POMC |
| 609734 | PROOPIOMELANOCORTIN DEFICIENCY | POMC |
| 168820 | PARAOXONASE 1; PON1 | PON1 |
| 612633 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5 | PON1 |
| 137800 | GLIOMA SUSCEPTIBILITY 1; GLM1 | PPARG |
| 601665 | OBESITY | PPARG |
| 604367 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 | PPARG |
| 606641 | BODY MASS INDEX; BMI | PPARG |
| 609338 | CAROTID INTIMAL MEDIAL THICKNESS 1 | PPARG |
| 194200 | WOLFF-PARKINSON-WHITE SYNDROME | PRKAG2 |
| 261740 | GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | PRKAG2 |
| 600858 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6 | PRKAG2 |
| 123400 | CREUTZFELDT-JAKOB DISEASE; CJD | PRNP |
| 137440 | GERSTMANN-STRAUSSLER DISEASE; GSD | PRNP |
| 245300 | KURU, SUSCEPTIBILITY TO | PRNP |
| 600072 | FATAL FAMILIAL INSOMNIA; FFI | PRNP |
| 603218 | HUNTINGTON DISEASE-LIKE 1; HDL1 | PRNP |
| 606688 | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | PRNP |
| 176860 | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 | PROC |
| 612304 | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4 | PROC |
| 181500 | SCHIZOPHRENIA; SCZD | PRODH |
| 239500 | HYPERPROLINEMIA, TYPE I; HPI | PRODH |
| 600850 | SCHIZOPHRENIA 4; SCZD4 | PRODH |
| 202650 | AGNATHIA-OTOCEPHALY COMPLEX; AGOTC | PRRX1 |
| 167800 | PANCREATITIS, HEREDITARY; PCTT | PRSS1 |
| 613517 | MICROPHTHALMIA, ISOLATED 6; MCOP6 | PRSS56 |
| 256040 | AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD | PSMB8 |
| 109400 | BASAL CELL NEVUS SYNDROME; BCNS | PTCH1 |
| 605462 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1 | PTCH1 |
| 610828 | HOLOPROSENCEPHALY 7; HPE7 | PTCH1 |
| 613382 | BRACHYDACTYLY, TYPE E2; BDE2 | PTHLH |
| 151100 | LEOPARD SYNDROME 1 | PTPN11 |
| 156250 | METACHONDROMATOSIS; METCDS | PTPN11 |
| 163950 | NOONAN SYNDROME 1; NS1 | PTPN11 |
| 607785 | JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML | PTPN11 |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | PTPN22 |
| 614196 | NEPHROTIC SYNDROME, TYPE 6; NPHS6 | PTPRO |
| 232700 | GLYCOGEN STORAGE DISEASE VI | PYGL |
| 232600 | GLYCOGEN STORAGE DISEASE V | PYGM |
| 600118 | WARBURG MICRO SYNDROME 1; WARBM1 | RAB3GAP1 |
| 613078 | NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD | RAD50 |
| 150699 | LEIOMYOMA, UTERINE; UL | RAD51B |
| 611553 | NOONAN SYNDROME 5; NS5 | RAF1 |
| 611554 | LEOPARD SYNDROME 2 | RAF1 |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | RASGRP1 |
| 251255 | JAWAD SYNDROME; JWDS | RBBP8 |
| 606744 | SECKEL SYNDROME 2; SCKL2 | RBBP8 |
| 614814 | ADAMS-OLIVER SYNDROME 3; AOS3 | RBPJ |
| 136880 | FUNDUS ALBIPUNCTATUS | RDH5 |
| 257320 | LISSENCEPHALY 2; LIS2 | RELN |
| 114500 | COLORECTAL CANCER; CRC | RET |
| 142623 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 | RET |
| 155240 | THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC | RET |
| 162300 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B | RET |
| 171300 | PHEOCHROMOCYTOMA | RET |
| 171400 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A | RET |
| 188550 | THYROID CARCINOMA, PAPILLARY | RET |
| 191830 | RENAL ADYSPLASIA | RET |
| 209880 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS | RET |
| 612015 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N | RFT1 |
| 601346 | PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA | RFX6 |
| 176807 | PROSTATE CANCER | RNASEL |
| 601518 | PROSTATE CANCER, HEREDITARY, 1; HPC1 | RNASEL |
| 612951 | LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY | RNASET2 |
| 614192 | MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME; MMFD | RNF135 |
| 612042 | RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1 | RNF212 |
| 607151 | MOYAMOYA DISEASE 2; MYMY2 | RNF213 |
| 612561 | DIAMOND-BLACKFAN ANEMIA 6; DBA6 | RPL5 |
| 613309 | DIAMOND-BLACKFAN ANEMIA 10; DBA10 | RPS26 |
| 167000 | OVARIAN CANCER | RRAS2 |
| 601399 | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | RUNX1 |
| 270550 | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS | SACS |
| 258100 | OGUCHI DISEASE 1 | SAG |
| 613758 | RETINITIS PIGMENTOSA 47; RP47 | SAG |
| 107480 | TOWNES-BROCKS SYNDROME; TBS | SALL1 |
| 610762 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | SCARB1 |
| 254900 | EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE; | SCARB2 |
| 604233 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1 | SCN1B |
| 612838 | BRUGADA SYNDROME 5; BRGDA5 | SCN1B |
| 108770 | ATRIAL STANDSTILL | SCN5A |
| 113900 | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A | SCN5A |
| 272120 | SUDDEN INFANT DEATH SYNDROME | SCN5A |
| 601144 | BRUGADA SYNDROME 1; BRGDA1 | SCN5A |
| 601154 | CARDIOMYOPATHY, DILATED, 1E; CMD1E | SCN5A |
| 603829 | VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY | SCN5A |
| 603830 | LONG QT SYNDROME 3; LQT3 | SCN5A |
| 608567 | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1 | SCN5A |
| 614022 | ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10 | SCN5A |
| 604377 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE | SCO2 |
| 173610 | SELECTIN P; SELP | SELP |
| 601367 | STROKE, ISCHEMIC | SELP |
| 613490 | ALPHA-1-ANTITRYPSIN DEFICIENCY | SERPINA1 |
| 613329 | PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY | SERPINE1 |
| 262850 | ALPHA-2-PLASMIN INHIBITOR DEFICIENCY | SERPINF2 |
| 610504 | PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM | SERPINH1 |
| 613848 | OSTEOGENESIS IMPERFECTA, TYPE X | SERPINH1 |
| 269150 | SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME | SETBP1 |
| 154400 | ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 | SF3B4 |
| 253700 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C | SGCG |
| 222100 | DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM | SH2B3 |
| 612011 | CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13 | SH2B3 |
| 605192 | DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 | SIX1 |
| 608389 | BRANCHIOOTIC SYNDROME 3; BOS3 | SIX1 |
| 157170 | HOLOPROSENCEPHALY 2; HPE2 | SIX3 |
| 212550 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2 | SIX6 |
| 614602 | TRICHOHEPATOENTERIC SYNDROME 2; THES2 | SKIV2L |
| 607948 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | SLC11A1 |
| 610446 | BURULI ULCER, SUSCEPTIBILITY TO | SLC11A1 |
| 263800 | GITELMAN SYNDROME | SLC12A3 |
| 111000 | BLOOD GROUP--KIDD SYSTEM; JK | SLC14A1 |
| 612671 | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 | SLC17A3 |
| 605583 | DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 | SLC17A8 |
| 249270 | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA | SLC19A2 |
| 220150 | HYPOURICEMIA, RENAL, 1; RHUC1 | SLC22A12 |
| 180300 | RHEUMATOID ARTHRITIS; RA | SLC22A4 |
| 212140 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP | SLC22A5 |
| 210750 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6 | SLC24A4 |
| 113750 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4 | SLC24A5 |
| 603471 | CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 | SLC25A13 |
| 605814 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | SLC25A13 |
| 238970 | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME | SLC25A15 |
| 602782 | HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | SLC29A3 |
| 227810 | FANCONI-BICKEL SYNDROME; FBS | SLC2A2 |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | SLC2A4 |
| 612076 | HYPOURICEMIA, RENAL, 2; RHUC2 | SLC2A9 |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | SLC30A8 |
| 612286 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1 | SLC34A1 |
| 613388 | FANCONI RENOTUBULAR SYNDROME 2; FRTS2 | SLC34A1 |
| 269250 | SCHNECKENBECKEN DYSPLASIA | SLC35D1 |
| 227240 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 | SLC45A2 |
| 606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | SLC45A2 |
| 138500 | HYPERGLYCINURIA | SLC6A20 |
| 242600 | IMINOGLYCINURIA | SLC6A20 |
| 220100 | CYSTINURIA | SLC7A9 |
| 612287 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2 | SLC9A3R1 |
| 237450 | HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR | SLCO1B1 |
| 237450 | HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR | SLCO1B3 |
| 114500 | COLORECTAL CANCER; CRC | SMAD3 |
| 613795 | LOEYS-DIETZ SYNDROME, TYPE 3; LDS3 | SMAD3 |
| 612229 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3 | SMAD7 |
| 613325 | RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2 | SMARCA4 |
| 614609 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16 | SMARCA4 |
| 162091 | SCHWANNOMATOSIS | SMARCB1 |
| 609322 | RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 | SMARCB1 |
| 614608 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15 | SMARCB1 |
| 206920 | MICROPHTHALMIA WITH LIMB ANOMALIES | SMOC1 |
| 127750 | DEMENTIA, LEWY BODY; DLB | SNCA |
| 168600 | PARKINSON DISEASE, LATE-ONSET; PD | SNCA |
| 168601 | PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 | SNCA |
| 605543 | PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 | SNCA |
| 105400 | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 | SOD1 |
| 613589 | LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS | SORT1 |
| 122860 | CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD | SOST |
| 239100 | HYPEROSTOSIS CORTICALIS GENERALISATA | SOST |
| 269500 | SCLEROSTEOSIS 1; SOST1 | SOST |
| 613674 | VESICOURETERAL REFLUX 3; VUR3 | SOX17 |
| 114290 | CAMPOMELIC DYSPLASIA | SOX9 |
| 278850 | 46,XX SEX REVERSAL 2; SRXX2 | SOX9 |
| 235550 | HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI | SP110 |
| 613849 | OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 | SP7 |
| 611431 | LEGIUS SYNDROME | SPRED1 |
| 130600 | ELLIPTOCYTOSIS 2; EL2 | SPTA1 |
| 266140 | PYROPOIKILOCYTOSIS, HEREDITARY; HPP | SPTA1 |
| 270970 | SPHEROCYTOSIS, TYPE 3; SPH3 | SPTA1 |
| 209950 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL | STAT1 |
| 613796 | MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE | STAT1 |
| 614162 | CANDIDIASIS, FAMILIAL, 7; CANDF7 | STAT1 |
| 147060 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | STAT3 |
| 180300 | RHEUMATOID ARTHRITIS; RA | STAT4 |
| 612253 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11 | STAT4 |
| 245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | STAT5B |
| 272300 | SULFOCYSTEINURIA | SUOX |
| 610743 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 | SYNE1 |
| 612998 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 | SYNE1 |
| 612999 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5 | SYNE2 |
| 614980 | CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2; CHTD2 | TAB2 |
| 604571 | BARE LYMPHOCYTE SYNDROME, TYPE I | TAP1 |
| 604571 | BARE LYMPHOCYTE SYNDROME, TYPE I | TAP2 |
| 612069 | AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; | TARDBP |
| 171200 | THIOUREA TASTING | TAS2R38 |
| 276600 | TYROSINEMIA, TYPE II | TAT |
| 607136 | SPINOCEREBELLAR ATAXIA 17; SCA17 | TBP |
| 260660 | COUSIN SYNDROME | TBX15 |
| 611363 | ATRIAL SEPTAL DEFECT 4; ASD4 | TBX20 |
| 181450 | ULNAR-MAMMARY SYNDROME; UMS | TBX3 |
| 142900 | HOLT-ORAM SYNDROME; HOS | TBX5 |
| 610954 | PITT-HOPKINS SYNDROME; PTHS | TCF4 |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | TCF7L2 |
| 108985 | SVEINSSON CHORIORETINAL ATROPHY; SCRA | TEAD1 |
| 178500 | PULMONARY FIBROSIS, IDIOPATHIC; IPF | TERT |
| 187270 | TELOMERASE REVERSE TRANSCRIPTASE; TERT | TERT |
| 609135 | APLASTIC ANEMIA | TERT |
| 613989 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2 | TERT |
| 614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; | TERT |
| 263300 | POLYCYTHEMIA VERA | TET2 |
| 614286 | MYELODYSPLASTIC SYNDROME; MDS | TET2 |
| 209300 | ATRANSFERRINEMIA | TF |
| 169100 | CHAR SYNDROME | TFAP2B |
| 604250 | HEMOCHROMATOSIS, TYPE 3; HFE3 | TFR2 |
| 614816 | LOEYS-DIETZ SYNDROME, TYPE 4; LDS4 | TGFB2 |
| 132800 | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE | TGFBR1 |
| 608967 | LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A | TGFBR1 |
| 609192 | LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A | TGFBR1 |
| 133239 | ESOPHAGEAL CANCER | TGFBR2 |
| 610168 | LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B | TGFBR2 |
| 610380 | LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B | TGFBR2 |
| 614331 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6 | TGFBR2 |
| 613908 | SPINOCEREBELLAR ATAXIA 35; SCA35 | TGM6 |
| 605407 | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | TH |
| 145650 | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH | THRB |
| 188570 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH | THRB |
| 274300 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH | THRB |
| 136900 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD | TIMP3 |
| 607748 | HYPERCHOLANEMIA, FAMILIAL; FHCA | TJP2 |
| 614132 | CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION | TMCO1 |
| 206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA | TMPRSS6 |
| 607507 | PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO | TNF |
| 610424 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | TNF |
| 611162 | MALARIA, SUSCEPTIBILITY TO | TNF |
| 174810 | FAMILIAL EXPANSILE OSTEOLYSIS; FEO | TNFRSF11A |
| 602080 | PAGET DISEASE OF BONE; PDB | TNFRSF11A |
| 612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | TNFRSF11A |
| 239000 | PAGET DISEASE, JUVENILE | TNFRSF11B |
| 240500 | IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 | TNFRSF13B |
| 609529 | IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2 | TNFRSF13B |
| 142680 | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | TNFRSF1A |
| 614810 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5; MS5 | TNFRSF1A |
| 259710 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 | TNFSF11 |
| 152700 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | TNFSF4 |
| 601680 | ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B | TNNI2 |
| 130020 | EHLERS-DANLOS SYNDROME, TYPE III | TNXB |
| 606408 | EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY | TNXB |
| 103285 | ADULT SYNDROME | TP63 |
| 106260 | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | TP63 |
| 129400 | RAPP-HODGKIN SYNDROME; RHS | TP63 |
| 603543 | LIMB-MAMMARY SYNDROME; LMS | TP63 |
| 604292 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME | TP63 |
| 605289 | SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 | TP63 |
| 612267 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10 | TPCN2 |
| 115196 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 | TPM1 |
| 611878 | CARDIOMYOPATHY, DILATED, 1Y; CMD1Y | TPM1 |
| 614070 | PSORIASIS SUSCEPTIBILITY 13; PSORS13 | TRAF3IP2 |
| 221770 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; | TREM2 |
| 188545 | THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR | TRHR |
| 200600 | ACHONDROGENESIS, TYPE IA; ACG1A | TRIP11 |
| 602014 | HYPOMAGNESEMIA 1, INTESTINAL; HOMG1 | TRPM6 |
| 150230 | TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 | TRPS1 |
| 190350 | TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 | TRPS1 |
| 190351 | TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 | TRPS1 |
| 612390 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C | TSEN34 |
| 275200 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 | TSHR |
| 603372 | THYROID-STIMULATING HORMONE RECEPTOR; TSHR | TSHR |
| 603373 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | TSHR |
| 609152 | HYPERTHYROIDISM, NONAUTOIMMUNE | TSHR |
| 105210 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | TTR |
| 115430 | CARPAL TUNNEL SYNDROME; CTS1 | TTR |
| 145680 | DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA | TTR |
| 613112 | MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED | TUBB1 |
| 610678 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4 | TUFM |
| 611521 | TYROSINE KINASE 2 DEFICIENCY | TYK2 |
| 603041 | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 | TYMP |
| 103470 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS | TYR |
| 203100 | ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A | TYR |
| 601800 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 | TYR |
| 606952 | ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B | TYR |
| 203290 | ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 | TYRP1 |
| 612271 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11 | TYRP1 |
| 300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | UBE2A |
| 143500 | GILBERT SYNDROME | UGT1A1 |
| 218800 | CRIGLER-NAJJAR SYNDROME, TYPE I | UGT1A1 |
| 237900 | HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN | UGT1A1 |
| 601816 | BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1 | UGT1A1 |
| 606785 | CRIGLER-NAJJAR SYNDROME, TYPE II | UGT1A1 |
| 162000 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1 | UMOD |
| 603860 | MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 | UMOD |
| 609886 | GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA | UMOD |
| 144250 | HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL | USF1 |
| 602491 | HYPERLIPIDEMIA, COMBINED, 1 | USF1 |
| 614402 | MICROPHTHALMIA, SYNDROMIC 11; MCOPS11 | VAX1 |
| 277440 | VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A | VDR |
| 607948 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | VDR |
| 603933 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1 | VEGFA |
| 122700 | COUMARIN RESISTANCE | VKORC1 |
| 607473 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2 | VKORC1 |
| 224050 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME | VLDLR |
| 193400 | VON WILLEBRAND DISEASE, TYPE 1; VWD1 | VWF |
| 277480 | VON WILLEBRAND DISEASE, TYPE 3; VWD3 | VWF |
| 613554 | VON WILLEBRAND DISEASE, TYPE 2; VWD2 | VWF |
| 613610 | CRANIOECTODERMAL DYSPLASIA 2; CED2 | WDR35 |
| 614091 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5 | WDR35 |
| 609887 | GLAUCOMA 1, OPEN ANGLE, G; GLC1G | WDR36 |
| 613211 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3 | WDR72 |
| 610185 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME | WDR81 |
| 222300 | WOLFRAM SYNDROME 1; WFS1 | WFS1 |
| 600965 | DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 | WFS1 |
| 614296 | WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL | WFS1 |
| 224750 | SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS | WNT10A |
| 257980 | ODONTOONYCHODERMAL DYSPLASIA; OODD | WNT10A |
| 273395 | TETRAAMELIA, AUTOSOMAL RECESSIVE | WNT3 |
| 158330 | MULLERIAN APLASIA AND HYPERANDROGENISM | WNT4 |
| 277000 | MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME | WNT4 |
| 611812 | 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; | WNT4 |
| 136680 | FRASIER SYNDROME | WT1 |
| 156240 | MESOTHELIOMA, MALIGNANT; MESOM | WT1 |
| 194070 | WILMS TUMOR 1; WT1 | WT1 |
| 194080 | DENYS-DRASH SYNDROME; DDS | WT1 |
| 256370 | NEPHROTIC SYNDROME, TYPE 4; NPHS4 | WT1 |
| 608978 | MEACHAM SYNDROME | WT1 |
| 612371 | MAJOR AFFECTIVE DISORDER 7; MAFD7 | XBP1 |
| 278700 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | XPA |
| 614069 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | ZBTB24 |
| 612221 | STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10 | ZBTB38 |
| 235730 | MOWAT-WILSON SYNDROME | ZEB2 |
| 187500 | TETRALOGY OF FALLOT; TOF | ZFPM2 |
| 610187 | DIAPHRAGMATIC HERNIA 3 | ZFPM2 |
| 609637 | HOLOPROSENCEPHALY 5; HPE5 | ZIC2 |
| 605990 | NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO | ZNF365 |
| 229200 | BRITTLE CORNEA SYNDROME 1; BCS1 | ZNF469 |
