| Freq. | Disease | Related Gene |
|---|
| 23 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM | GPD2 |
| NEUROD1, NIDDM |
| IRS1 |
| IGF2BP2, IMP2 |
| WFS1, WFRS, WFS, DFNA6 |
| NIDDM4 |
| CDKAL1 |
| VEGF |
| ENPP1, PDNP1, NPPS, M6S1, PCA1 |
| GCK, HHF3 |
| TCF7L2, TCF4 |
| ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| MAPK8IP1, IB1 |
| TCF1, HNF1A, MODY3 |
| IPF1 |
| IRS2 |
| TCF2, HNF2, MODY5, FJHN |
| GCGR |
| RETN, RSTN, FIZZ3 |
| AKT2 |
| HNF4A, TCF14, MODY1 |
| NIDDM3 |
| 22 | SCHIZOPHRENIA; SCZD | CHI3L1, GP39, YKL40 |
| DISC1, SCZD9 |
| DISC2 |
| SYN2 |
| DRD3, ETM1, FET1 |
| SCZD3 |
| DTNBP1, HPS7 |
| SCZD6 |
| SCZD11 |
| SCZD2 |
| DAO, DAMOX |
| HTR2A |
| SCZD7 |
| G72 |
| AKT1 |
| SCZD10 |
| SCZD8 |
| RTN4R, NOGOR |
| COMT |
| APOL1 |
| APOL2 |
| APOL4 |
| 20 | OBESITY | SDC3, SYND3, SDCN |
| NR0B2, SHP |
| GHRL |
| PPARG, PPARG1, PPARG2 |
| OB4 |
| UCP1 |
| CART |
| ADRB2 |
| PPARGC1B, PGC1B, PERC |
| SIM1 |
| ENPP1, PDNP1, NPPS, M6S1, PCA1 |
| ADRB3 |
| OB10P |
| OB10Q |
| UCP2 |
| UCP3 |
| FTO |
| AGRP, ART, AGRT |
| MC4R |
| MC3R |
| 20 | PROSTATE CANCER | RNASEL, RNS4, PRCA1, HPC1 |
| PCAP |
| MAD1L1, TXBP181 |
| HPC4 |
| HIP1 |
| MSR1 |
| N33 |
| KLF6, COPEB, BCD1, ZF9 |
| PTEN, MMAC1 |
| MXI1 |
| CD82, SAR2, KAI1, ST6 |
| BRCA2, FANCD1 |
| ATBF1 |
| ELAC2, HPC2 |
| TCF2, HNF2, MODY5, FJHN |
| HPCQTL19 |
| HPC3 |
| CHEK2, RAD53, CHK2, CDS1, LFS2 |
| AR, DHTR, TFM, SBMA, KD, SMAX1 |
| HPCX |
| 19 | LEUKEMIA, ACUTE MYELOID; AML | GMPS |
| MLF1 |
| LPP |
| CHIC2, BTL |
| KIT, PBT |
| NSD1, ARA267, STO |
| NPM1 |
| WHSC1L1, NSD3 |
| JAK2 |
| NUP214, D9S46E, CAN, CAIN |
| AF10 |
| CALM, CLTH |
| ARHGEF12, LARG, KIAA0382 |
| ETV6, TEL |
| FLT3 |
| AMLCR2 |
| SH3GL1, EEN |
| CEBPA, CEBP |
| RUNX1, CBFA2, AML1 |
| 19 | HYPERTENSION, ESSENTIAL | ECE1 |
| ATP1B1 |
| RGS5 |
| SELE, ELAM1 |
| AGT, SERPINA8 |
| HYT3 |
| AGTR1, AGTR1A, AT2R1 |
| ADD1 |
| HYT6 |
| CYP3A5, P450PCN3 |
| NOS3 |
| GNB3 |
| HYT4 |
| HYT2 |
| NOS2A, NOS2 |
| HYT1 |
| PNMT, PENT |
| HYT5 |
| PTGIS, CYP8A1, PGIS, CYP8 |
| 17 | COLORECTAL CANCER; CRC | PLA2G2A, PLA2B, PLA2L, MOM1 |
| NRAS |
| ODC1 |
| PIK3CA |
| TLR2, TIL4 |
| PDGFRL, PDGRL, PRLTS |
| TLR4, ARMD10 |
| PTPRJ, DEP1 |
| MLH3, HNPCC7 |
| AKT1 |
| BUB1B, BUBR1 |
| TP53, P53, LFS1 |
| FLCN, BHD |
| AXIN2 |
| SMAD7, MADH7 |
| AURKA, STK15, AURORA2, BTAK, ARK1 |
| EP300 |
| 16 | BREAST CANCER | CASP8, MCH5, ALPS2B |
| BARD1 |
| PIK3CA |
| HMMR |
| RB1CC1, CC1, KIAA0203 |
| SLC22A1L, BWSCR1A, IMPT1 |
| ATM, ATA, AT1 |
| KRAS2, RASK2, NS3 |
| BRCA2, FANCD1 |
| AKT1 |
| RAD51A, RECA |
| PALB2, FANCN |
| TP53, P53, LFS1 |
| BRIP1, BACH1, FANCJ |
| PPM1D, WIP1 |
| CHEK2, RAD53, CHK2, CDS1, LFS2 |
| 15 | SYSTEMIC LUPUS ERYTHEMATOSUS; SLE | PTPN22, PEP, PTPN8, LYP |
| FCGR2B, CD32 |
| FCGR3A, CD16, IGFR3 |
| TNFSF6, APT1LG1, FASL |
| SLEB1, SLE1 |
| STAT4 |
| PDCD1, SLEB2 |
| TREX1, AGS1, AGS5, CRV, HERNS |
| SLEB3 |
| C4A, C4S |
| SLEH1 |
| SLEB4 |
| SLEB5 |
| DNASE1, DNL1 |
| SLEB6 |
| 14 | ALZHEIMER DISEASE; AD | APBB2, FE65L1 |
| AD10 |
| NOS3 |
| PACIP1, PAXIP1L, PTIP |
| AD6 |
| PLAU, URK |
| SORL1, LR11, SORLA |
| A2M |
| AD5 |
| BLMH, BMH |
| ACE, DCP1, ACE1 |
| MPO |
| AD9 |
| AD8 |
| 13 | ASTHMA, SUSCEPTIBILITY TO | HNMT |
| MUC7 |
| IL13, ALRH, BHR1 |
| SCGB3A2, UGRP1 |
| IL12B, NKSF2 |
| ADRB2 |
| HLA-G |
| TNF, TNFA |
| PLA2G7, PAFAH |
| ALOX5 |
| UGB, CC10, CCSP, SCGB1A1 |
| PHF11, NYREN34 |
| CCL11, SCYA11 |
| 13 | INFLAMMATORY BOWEL DISEASE 1; IBD1 | IBD7 |
| IL23R |
| IBD9 |
| IBD5 |
| SLC22A4, OCTN1 |
| IBD3 |
| DEFB4, DEFB2 |
| DLG5, PDLG, KIAA0583 |
| IBD2 |
| IBD4 |
| IBD8 |
| NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 |
| IBD6 |
| 13 | LUNG CANCER | CASP8, MCH5, ALPS2B |
| DLEC1, DLC1 |
| RASSF1 |
| PIK3CA |
| PRKN, PARK2, PDJ, LPRS2 |
| EGFR |
| BRAF |
| MAP3K8, COT, EST, TPL2 |
| SLC22A1L, BWSCR1A, IMPT1 |
| PPP2R1B |
| KRAS2, RASK2, NS3 |
| ERBB2, NGL, NEU, HER2 |
| CYP2A6, CYP2A3, CYP2A, P450C2A |
| 12 | BARDET-BIEDL SYNDROME; BBS | BBS5 |
| ARL6, BBS3 |
| BBS7 |
| BBS12, FLJ35630, C4orf24 |
| PTHB1, BBS9 |
| TRIM32, HT2A, LGMD2H, BBS11 |
| BBS1 |
| BBS10, C12orf58, FLJ23560 |
| TTC8, BBS8 |
| BBS4 |
| BBS2 |
| MKKS, HMCS, KMS, MKS, BBS6 |
| 12 | GASTRIC CANCER | MUTYH, MYH |
| IL1B |
| IL1RN |
| CASP10, MCH4, ALPS2 |
| PIK3CA |
| APC, GS, FPC |
| IRF1, MAR |
| KLF6, COPEB, BCD1, ZF9 |
| FGFR2, BEK, CFD1, JWS |
| KRAS2, RASK2, NS3 |
| CDH1, UVO, LCAM, ECAD |
| ERBB2, NGL, NEU, HER2 |
| 11 | MALARIA, SUSCEPTIBILITY TO | FY, GPD |
| FCGR2B, CD32 |
| CR1, C3BR |
| GYPC, GE, GPC |
| GYPA, MN, GPA |
| TNF, TNFA |
| CD36, CHDS7 |
| TIRAP |
| NOS2A, NOS2 |
| SLC4A1, AE1, EPB3 |
| ICAM1 |
| 11 | PARKINSON DISEASE; PD | PARK10 |
| PARK3 |
| NR4A2, NURR1, NOT, TINUR |
| UCHL1, PARK5 |
| SNCAIP |
| TBP, SCA17 |
| DBH |
| DRD4 |
| MAPT, MTBT1, DDPAC, MSTD |
| NDUFV2 |
| PARK12 |
| 10 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | IL8RA |
| CXCL12, SDF1 |
| IFNG, IFG, IFI |
| IL4R, IL4RA |
| CCL3L1, SCYA3L1, LD78 |
| CCL2, SCYA2, MCP1, MCAF |
| CCL3, SCYA3, MIP1A |
| CCL11, SCYA11 |
| CD209, CDSIGN |
| KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1 |
| 10 | LEIGH SYNDROME; LS | BCS1L, FLNMS, GRACILE, BJS, PTD |
| SDHA, SDH2, SDHF |
| NDUFS4, AQDQ |
| DLD, LAD, PHE3 |
| SURF1 |
| COX15 |
| NDUFS3 |
| NDUFS8 |
| NDUFV1, UQOR1 |
| NDUFS7, PSST |
| 9 | RHEUMATOID ARTHRITIS; RA | PADI4, PADI5, PAD |
| PTPN22, PEP, PTPN8, LYP |
| IL10, CSIF |
| STAT4 |
| SLC22A4, OCTN1 |
| HLA-DR1B |
| NFKBIL1 |
| MHC2TA, C2TA |
| RUNX1, CBFA2, AML1 |
| 9 | PSORIASIS SUSCEPTIBILITY 1; PSORS1 | PSORS7 |
| PSORS4 |
| PSORS5 |
| PSORS3 |
| PSORS9 |
| IL12B, NKSF2 |
| HLA-C, PSORS1 |
| PSORS2, PSS1 |
| PSORS6 |
| 9 | GLIOMA OF BRAIN, FAMILIAL | MSH2, COCA1, FCC1, HNPCC1 |
| PPARG, PPARG1, PPARG2 |
| RTE1 |
| PTEN, MMAC1 |
| LGI1, EPT, ETL1 |
| DMBT1 |
| WDR11, DR11, KIAA1351 |
| GLM1 |
| ERBB2, NGL, NEU, HER2 |
| 8 | ZELLWEGER SYNDROME; ZS | PEX14 |
| PXF, HK33, D1S2223E, PEX19 |
| PEX10, NALD |
| PEX13, ZWS, NALD |
| PEX3 |
| PEX1, ZWS1 |
| PEX5, PXR1, PTS1R |
| PEX26 |
| 8 | IgE RESPONSIVENESS, ATOPIC; IGER | SELP, GRMP |
| SPINK5, LEKTI |
| HAVCR1, HAVCR |
| PLA2G7, PAFAH |
| MS4A2, FCER1B |
| PHF11, NYREN34 |
| IL4R, IL4RA |
| IL21R |
| 7 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | NRAMP1, NRAMP |
| SP110, IFI41, IFI75, VODI |
| IFNGR1 |
| TIRAP |
| IFNG, IFG, IFI |
| CCL2, SCYA2, MCP1, MCAF |
| CD209, CDSIGN |
| 7 | MITOCHONDRIAL COMPLEX I DEFICIENCY | NDUFS2 |
| NDUFS1 |
| NDUFS6 |
| NDUFS4, AQDQ |
| MMTN, B17.2L |
| NDUFV1, UQOR1 |
| NDUFA1, MWFE |
| 7 | HERMANSKY-PUDLAK SYNDROME; HPS | HPS3 |
| DTNBP1, HPS7 |
| HPS1 |
| HPS6, RU |
| HPS5, RU2, KIAA1017 |
| BLOC1S3, BLOS3, HPS8 |
| HPS4 |
| 7 | THYROID CARCINOMA, PAPILLARY | TIF1G, RFG7, PTC7 |
| TRIM24, TIF1, TIF1A, PTC6 |
| PCM1, PTC4 |
| NCOA4, ELE1, PTC3 |
| CCDC6, D10S170, H4, TST1, PTC, TPC |
| GOLGA5, RFG5, PTC5 |
| PRKAR1A, TSE1, CNC1, CAR, PPNAD1 |
| 7 | OSTEOPOROSIS | RIL |
| IL6, IFNB2, BSF2 |
| CALCR, CRT |
| COL1A2 |
| LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| VDR |
| COL1A1 |
| 7 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD | DRD5, DRD1B, DRD1L2 |
| SLC6A3, DAT1 |
| ADHD4 |
| ADHD3 |
| DRD4 |
| ADHD1 |
| ADHD2 |
| 7 | HEPATOCELLULAR CARCINOMA | CASP8, MCH5, ALPS2B |
| CTNNB1 |
| PIK3CA |
| MET, AUTS9 |
| PDGFRL, PDGRL, PRLTS |
| AXIN1, AXIN |
| TP53, P53, LFS1 |
| 6 | BODY MASS INDEX | BMIQ3 |
| BMIQ1 |
| BMIQ4 |
| BMIQ2 |
| BMIQ5 |
| BMIQ6 |
| 6 | EPILEPSY, IDIOPATHIC GENERALIZED; EIG | CACNB4, EJM, EA5 |
| OPRM1 |
| EIG1 |
| EIG3 |
| EIG2 |
| ME2 |
| 6 | AUTONOMIC CONTROL, CONGENITAL FAILURE OF | PMX2B, NBPHOX, PHOX2B |
| GDNF |
| RET, MEN2A |
| BDNF |
| ASCL1, ASH1 |
| EDN3 |
| 6 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH | CAV3, LGMD1C |
| TNNC1 |
| MYH6, ASD3, MYHCA |
| MYH7, CMH1, MPD1, CMD1S |
| ACTC1, CMD1R |
| MYLK2, MLCK |
| 6 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT | APOA2 |
| ITIH4, PK120, ITIHL1 |
| GSBS |
| EPHX2 |
| ABCA1, ABC1, HDLDT1, TGD |
| LDLR, FHC, FH |
| 6 | ESOPHAGEAL CANCER | TGFBR2, HNPCC6, AAT3, MFS2 |
| DLEC1, DLC1 |
| LZTS1, F37, FEZ1 |
| DEC1 |
| RNF6 |
| WWOX, FOR |
| 5 | MAJOR DEPRESSIVE DISORDER; MDD | FKBP5, FKBP51 |
| TPH2, NTPH |
| MDD1 |
| HTR2A |
| MDD2 |
| 5 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM | EIF2B3 |
| EIF2B4 |
| EIF2B5, LVWM, CACH, CLE |
| EIF2B1, EIF2BA |
| EIF2B2 |
| 5 | MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 | HMCN1, FBLN6, FIBL6, ARMD1 |
| C2 |
| CFB, BF, GBG |
| PLEKHA1, TAPP1 |
| APOE, AD2 |
| 5 | RETINITIS PIGMENTOSA; RP | USH2A, RP39 |
| MERTK, RP38 |
| RLBP1 |
| CNGB1, CNCG3L, CNCG2 |
| CRX, CORD2, CRD, LCA7 |
| 5 | WALKER-WARBURG SYNDROME | FKTN, FCMD |
| POMT1 |
| POMT2 |
| FKRP, MDC1C, LGMD2I |
| LARGE, KIAA0609, MDC1D |
| 5 | EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB | LAMC2, LAMNB2, LAMB2T |
| LAMB3 |
| COL17A1, BPAG2 |
| ITGB4 |
| LAMA3, LOCS |
| 5 | DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM | PTPN22, PEP, PTPN8, LYP |
| ITPR3 |
| OAS1, OIAS |
| TCF1, HNF1A, MODY3 |
| FOXP3, IPEX, AIID, XPID, PIDX |
| 5 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL | STAT1 |
| IL12B, NKSF2 |
| IFNGR1 |
| IL12RB1 |
| IFNGR2, IFNGT1, IFGR2 |
| 5 | ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | PEX10, NALD |
| PEX13, ZWS, NALD |
| PEX1, ZWS1 |
| PEX5, PXR1, PTS1R |
| PEX26 |
| 5 | PHEOCHROMOCYTOMA | SDHB, SDH1, SDHIP, PGL4 |
| VHL |
| GDNF |
| RET, MEN2A |
| SDHD, PGL1 |
| 5 | LONGEVITY | YTHDF2 |
| LGV1 |
| TLR4, ARMD10 |
| CETP, HDLCQ10 |
| AKAP10 |
| 5 | RENAL CELL CARCINOMA 1; RCC1 | OGG1 |
| VHL |
| DIRC2, RCC4 |
| RNF139, TRC8, RCA1, HRCA1 |
| FLCN, BHD |
| 5 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 | PMX2B, NBPHOX, PHOX2B |
| GDNF |
| RET, MEN2A |
| EDN3 |
| L1CAM, CAML1, HSAS1 |
| 5 | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS | PTPRC, CD45, LCA |
| HLA-DQB1, CELIAC1 |
| HLA-DR1B |
| CD24 |
| MHC2TA, C2TA |
| 5 | AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 | DCTN1, HMN7B |
| PRPH |
| ANG, RNASE5 |
| SOD1, ALS1 |
| NEFH |
| 4 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR | MUSK |
| RAPSN, CMS1D, CMS1E |
| CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D |
| CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D |
| 4 | COENZYME Q10 DEFICIENCY | COQ2 |
| PDSS2, DLP1, C6orf210 |
| APTX, AOA, AOA1 |
| PDSS1, TPT, COQ1 |
| 4 | OVARIAN CANCER, EPITHELIAL | PIK3CA |
| PRKN, PARK2, PDJ, LPRS2 |
| OPCML |
| AKT1 |
| 4 | SHORT STATURE, IDIOPATHIC, AUTOSOMAL | GHSR |
| GH1, GHN |
| SHOX, GCFX, SS, PHOG |
| SHOXY |
| 4 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+ | SCN2A1, SCN2A |
| SCN1A, GEFSP2, SMEI, FEB3 |
| GABRG2, GEFSP3, CAE2, ECA2 |
| SCN1B, GEFSP1 |
| 4 | INTERVERTEBRAL DISC DISEASE; IDD | COL9A2, EDM2 |
| COL11A1, STL2 |
| CILP |
| COL9A3, EDM3, IDD |
| 4 | DERMATITIS, ATOPIC | FLG |
| ATOD6 |
| ATPD5 |
| ATOD3 |
| 4 | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS | CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS |
| CHRND, ACHRD, SCCMS, CMS2A, FCCMS |
| CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D |
| CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D |
| 4 | GRAVES DISEASE | CTLA4, IDDM12, CELIAC3 |
| GC, DBP |
| GRD2 |
| GRDX, GD3 |
| 4 | RENAL TUBULAR DYSGENESIS; RTD | REN |
| AGT, SERPINA8 |
| AGTR1, AGTR1A, AT2R1 |
| ACE, DCP1, ACE1 |
| 4 | PANCREATIC CARCINOMA | ARMET, ARP |
| KRAS2, RASK2, NS3 |
| BRCA2, FANCD1 |
| TP53, P53, LFS1 |
| 4 | MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM | MPV17 |
| DGUOK, DGK |
| SUCLA2 |
| TK2 |
| 4 | MAPLE SYRUP URINE DISEASE | DBT, BCATE2 |
| BCKDHB, E1B |
| DLD, LAD, PHE3 |
| BCKDHA, MSUD1 |
| 4 | BARE LYMPHOCYTE SYNDROME, TYPE II | RFX5 |
| RFXAP |
| MHC2TA, C2TA |
| RFXANK |
| 4 | TOBACCO ADDICTION, SUSCEPTIBILITY TO | SLC6A3, DAT1 |
| GPR51, GABBR2 |
| CYP2A6, CYP2A3, CYP2A, P450C2A |
| CHRNA4, ENFL1 |
| 4 | THYROID CARCINOMA, FOLLICULAR; FTC | NRAS |
| MINPP1, HIPER1 |
| PTEN, MMAC1 |
| HRAS |
| 4 | TETRALOGY OF FALLOT | NKX2E, CSX |
| ZFPM2, FOG2, DIH3 |
| GDF1 |
| JAG1, AGS, AHD |
| 4 | OSTEOARTHRITIS | FRZB, FRZB1, SRFP3 |
| ASPN, PLAP1 |
| COL2A1 |
| GDF5, CDMP1, SYNS2 |
| 4 | MEDULLOBLASTOMA | PTCH2 |
| PTCH1, NBCCS, BCNS, HPE7 |
| SUFU, SUFUXL, SUFUH |
| DMBT1 |
| 4 | LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL | CCND1, PRAD1, BCL1 |
| P2RX7, P2X7 |
| ARL11, ARLTS1 |
| MIRN16-1, MIR16-1 |
| 4 | HYPEREKPLEXIA, HEREDITARY | GLRB |
| GLRA1, STHE |
| SLC6A5, GLYT2 |
| GPH, KIAA1385, GEPH |
| 4 | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | MPZ, CMT1B, CMTDI3, CHM, DSS |
| EGR2, KROX20 |
| PMP22, CMT1A, CMT1E, DSS |
| PRX, CMT4F |
| 4 | BECKWITH-WIEDEMANN SYNDROME; BWS | NSD1, ARA267, STO |
| CDKN1C, KIP2, BWS |
| H19, D11S813E, ASM1, BWS |
| KCNQ10T1, LIT1 |
| 4 | BLADDER CANCER | FGFR3, ACH |
| HRAS |
| KRAS2, RASK2, NS3 |
| RB1 |
| 3 | SKIN PIGMENTATION, VARIATION IN | SLC45A2, MATP, AIM1 |
| TYR |
| SLC24A5, NCKX5 |
| 3 | ABDOMINAL BODY FAT DISTRIBUTION | POMC |
| PPARG, PPARG1, PPARG2 |
| PTPN1, PTP1B |
| 3 | APLASTIC ANEMIA | TERC, TRC3, TR |
| TERT, TCS1, EST2 |
| IFNG, IFG, IFI |
| 3 | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS |
| CHRND, ACHRD, SCCMS, CMS2A, FCCMS |
| CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D |
| 3 | MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 | LRP8, APOER2, MCI1 |
| TNFSF4, GP34, OX4OL |
| ESR1, ESR |
| 3 | JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML | ARHGAP26, GRAF |
| PTPN11, PTP2C, SHP2, NS1 |
| NF1, VRNF, WSS, NFNS |
| 3 | HYPERCHOLANEMIA, FAMILIAL; FHCA | EPHX1 |
| TJP2, ZO2 |
| BAAT |
| 3 | MENINGIOMA, FAMILIAL | PTEN, MMAC1 |
| NF2 |
| MN1, MGCR |
| 3 | EPILEPSY, JUVENILE MYOCLONIC; JME | CACNB4, EJM, EA5 |
| CLCN2, EGMA, ECA3, EGI3 |
| GABRA1, EJM, ECA4 |
| 3 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHB, SDH1, SDHIP, PGL4 |
| SDHC, PGL3 |
| SDHD, PGL1 |
| 3 | DIABETES MELLITUS, PERMANENT NEONATAL; PNDM | GCK, HHF3 |
| ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| 3 | GLYCINE ENCEPHALOPATHY; GCE | AMT, NKH, GCE |
| GLDC, HYGN1, GCSP, GCE, NKH |
| GCSH, NKH |
| 3 | RENAL CELL CARCINOMA, PAPILLARY | PRCC, RCCP1 |
| MET, AUTS9 |
| TFE3 |
| 3 | BARE LYMPHOCYTE SYNDROME, TYPE I | TAP1, ABCB2, TAP1, RING4, PSF1 |
| TAP2, ABCB3, PSF2, RING11 |
| TAPBP, TPSN |
| 3 | OMENN SYNDROME | DCLRE1C, ARTEMIS, SCIDA |
| RAG1 |
| RAG2 |
| 3 | BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS | CLCNKA |
| CLCNKB |
| BSND |
| 3 | PAGET DISEASE OF BONE; PDB | PDB4 |
| SQSTM1, P62, PDB3 |
| TNFRSF11A, RANK, ODFR, OFE |
| 3 | ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B | TNNI2, AMCD2B, DA2B, FSSV |
| TNNT3, AMCD2B, DA2B, FSSV |
| MYH3 |
| 3 | TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP | ERCC3, XPB |
| TGF2H5, TTDA, TFB5, C6orf175 |
| ERCC2, EM9, XPD, COFS2 |
| 3 | NEURAL TUBE DEFECTS, FOLATE-SENSITIVE | MTR |
| MTRR |
| MTHFD, MTHFC |
| 3 | AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE | LRRC8, KIAA1437 |
| IGHM, MU |
| IGLL1, IGO, IGL5, VPREB2 |
| 3 | STROKE, ISCHEMIC | NOS3 |
| ALOX5AP, FLAP |
| PRKCH, PKCL, PRKCL |
| 3 | WAARDENBURG-SHAH SYNDROME | EDNRB, HSCR2, ABCDS |
| EDN3 |
| SOX10, WS4, WS2E |
| 3 | TURCOT SYNDROME | MLH1, COCA2, HNPCC2 |
| APC, GS, FPC |
| PMS2, PMSL2, HNPCC4 |
| 3 | RHABDOMYOSARCOMA 2; RMS2 | PAX7 |
| PAX3, WS1, HUP2, CDHS |
| FOXO1A, FKHR |
| 3 | REFSUM DISEASE, INFANTILE FORM | PEX1, ZWS1 |
| PXMP3, PAF1, PMP35, PEX2 |
| PEX26 |
| 3 | PSEUDOXANTHOMA ELASTICUM; PXE | ABCC6, ARA, ABC34, MLP1, PXE |
| XYLT1, XT1 |
| XYLT2, XT2 |
| 3 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1 | SCNN1A |
| SCNN1B |
| SCNN1G, PHA1 |
| 3 | OSTEOGENIC SARCOMA | RB1 |
| LOH18CR1, OSTS |
| CHEK2, RAD53, CHK2, CDS1, LFS2 |
| 3 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD | COL6A3 |
| COL6A1, OPLL |
| COL6A2 |
| 3 | MOLYBDENUM COFACTOR DEFICIENCY | MOCS2, MPTS |
| MOCS1, MOCOD |
| GPH, KIAA1385, GEPH |
| 3 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1 | MCPH1 |
| MCPH4 |
| MCPH2 |
| 3 | KARTAGENER SYNDROME | DNAH5, HL1, PCD, CILD3 |
| DNAH11, DNAHC11 |
| DNAI1, CILD1, ICS, PCD |
| 3 | ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1 | TGM1, ICR2, LI1 |
| ALOX12B |
| ALOXE3 |
| 3 | MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | ETFDH, MADD |
| ETFA, GA2, MADD |
| ETFB, MADD |
| 3 | GIANT PLATELET SYNDROME | GP9 |
| GP1BA |
| GP1BB |
| 3 | EPIDERMOLYSIS BULLOSA LETALIS | LAMC2, LAMNB2, LAMB2T |
| LAMB3 |
| LAMA3, LOCS |
| 3 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I | LOX |
| EFEMP2, FBLN4, UPH1 |
| FBLN5, ARMD3 |
| 3 | CONOTRUNCAL HEART MALFORMATIONS; CTHM | CFC1, CRYPTIC, HTX2 |
| GDF1 |
| TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR |
| 3 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC | GALNT3, HHS, HFTC |
| FGF23, ADHR, HPDR2, PHPTC |
| KL |
| 3 | WILMS TUMOR 1; WT1 | WT1 |
| BRCA2, FANCD1 |
| GPC3, SDYS, SGBS1 |
| 3 | TUBEROUS SCLEROSIS; TS | TSC1, LAM |
| IFNG, IFG, IFI |
| TSC2, LAM |
| 3 | THROMBOCYTHEMIA, ESSENTIAL | MPL, TPOR, MPLV |
| THPO, MGDF, MPLLG, TPO |
| JAK2 |
| 3 | NEURAL TUBE DEFECTS | VANGL1, STBM2 |
| T, TFT |
| CCL2, SCYA2, MCP1, MCAF |
| 3 | PULMONARY FIBROSIS, IDIOPATHIC | ELMOD2 |
| TERT, TCS1, EST2 |
| SFTPA1, SFTP1 |
| 3 | JUVENILE POLYPOSIS SYNDROME; JPS | BMPR1A, ACVRLK3, ALK3 |
| PTEN, MMAC1 |
| MADH4, DPC4, SMAD4, JIP |
| 3 | HYPOKALEMIC PERIODIC PARALYSIS; HOKPP | CACNA1S, CACNL1A3, CCHL1A3 |
| KCNE3, HOKPP |
| SCN4A, HYPP, NAC1A |
| 3 | OBSESSIVE-COMPULSIVE DISORDER 1; OCD1 | BDNF |
| HTR2A |
| SLC6A4, HTT, OCD1 |
| 3 | IgA NEPHROPATHY 1; IGAN1 | SELE, ELAM1 |
| SELL, LYAM1, LAM1, LNHR |
| PIGR |
| 3 | NEMALINE MYOPATHY 3; NEM3 | TPM3, NEM1 |
| ACTA1, ASMA, NEM3, NEM1, CFTD1 |
| TPM2, TMSB, AMCD1, DA1 |
| 3 | NARCOLEPSY 1; NRCLP1 | NRCLP2 |
| HCRT, OX |
| NLC1A |
| 3 | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT | MTMR14, C3orf29, HJUMPY |
| MYF6 |
| DNM2, CMTDIB, CMTDI1 |
| 3 | BETHLEM MYOPATHY | COL6A3 |
| COL6A1, OPLL |
| COL6A2 |
| 3 | MONILETHRIX | KRTHB1, HB1 |
| KRTHB3, HB3 |
| KRTHB6, HB6 |
| 3 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 | EDNRA |
| TNF, TNFA |
| ESR1, ESR |
| 3 | LACRIMOAURICULODENTODIGITAL SYNDROME; LADD | FGFR3, ACH |
| FGF10 |
| FGFR2, BEK, CFD1, JWS |
| 3 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH | CASR, HHC1, PCAR1, FIH |
| GCMB |
| PTH |
| 3 | HYPERTRIGLYCERIDEMIA, FAMILIAL | RP1, ORP1 |
| APOA5 |
| LIPI, LPDL, PRED5 |
| 3 | GLAUCOMA, PRIMARY OPEN ANGLE; POAG | CYP1B1, GLC3A |
| GLC1B |
| OPTN, GLC1E, FIP2, HYPL, NRP |
| 3 | GLAUCOMA 1, OPEN ANGLE, A; GLC1A | MYOC, TIGR, GLC1A, JOAG, GPOA |
| CYP1B1, GLC3A |
| LMX1B, NPS1 |
| 3 | FUNDUS ALBIPUNCTATUS | RDS, RP7, PRPH2, PRPH, AVMD, AOFMD |
| RDH5 |
| RLBP1 |
| 3 | EPIDERMOLYSIS BULLOSA OF HANDS AND FEET | KRT5, DDD |
| ITGB4 |
| KRT14 |
| 3 | EHLERS-DANLOS SYNDROME, TYPE I | COL5A2 |
| COL5A1 |
| COL1A1 |
| 3 | COUMARIN RESISTANCE | CYP2C9 |
| VKORC1, VKOR, VKCFD2, FLJ00289 |
| CYP2A6, CYP2A3, CYP2A, P450C2A |
| 3 | COLOBOMA, OCULAR | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| GDF6, CDMP2 |
| PAX6, AN2, MGDA |
| 3 | ALCOHOL DEPENDENCE | GABRA2 |
| ADH1B, ADH2 |
| HTR2A |
| 2 | USHER SYNDROME, TYPE IH; USH1H | CDH23, USH1D, USH1H |
| PCDH15, DFNB23, USH1H |
| 2 | INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 | TIRAP |
| IRAK4, REN64, IPD1 |
| 2 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | CRFB4 |
| IFNAR2 |
| 2 | HEPATITIS C VIRUS, SUSCEPTIBILITY TO | PTPRC, CD45, LCA |
| IFNG, IFG, IFI |
| 2 | LOEYS-DIETZ SYNDROME; LDS | TGFBR2, HNPCC6, AAT3, MFS2 |
| TGFBR1, ALK5, AAT5 |
| 2 | SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO | HLA-A |
| HLA-B, SPDA1 |
| 2 | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS | RGS9, PERRS |
| RGS9BP, R9AP, RGS9, PERRS |
| 2 | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3 | ZFAT1, ZNF406, AITD3 |
| TG, AITD3 |
| 2 | MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET | RDS, RP7, PRPH2, PRPH, AVMD, AOFMD |
| BEST1, VMD2 |
| 2 | ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS | KRT1 |
| KRT10 |
| 2 | ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2 |
| KCNE2, MIRP1, LQT6 |
| 2 | SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO | C10orf2, TWINKLE, PEO1, PEOA3, SANDO |
| POLG, POLG1, POLGA, PEO, SANDO, SCAE |
| 2 | SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI | SCN1A, GEFSP2, SMEI, FEB3 |
| GABRG2, GEFSP3, CAE2, ECA2 |
| 2 | PULMONARY DISEASE, CHRONIC OBSTRUCTIVE | MMP1, CLG |
| PI, AAT, SERPINA1 |
| 2 | ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1 | BDNF |
| HTR2A |
| 2 | GASTROINTESTINAL STROMAL TUMOR; GIST | KIT, PBT |
| PDGFRA |
| 2 | LYMPHANGIOLEIOMYOMATOSIS; LAM | TSC1, LAM |
| TSC2, LAM |
| 2 | GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO | OPA1, NTG, NPG |
| OPTN, GLC1E, FIP2, HYPL, NRP |
| 2 | RIPPLING MUSCLE DISEASE; RMD | RMD1 |
| CAV3, LGMD1C |
| 2 | PROPIONIC ACIDEMIA | PCCB |
| PCCA |
| 2 | BASAL CELL CARCINOMA, MULTIPLE | PTCH2 |
| PTCH1, NBCCS, BCNS, HPE7 |
| 2 | NEUROPATHY, CONGENITAL HYPOMYELINATING | MPZ, CMT1B, CMTDI3, CHM, DSS |
| EGR2, KROX20 |
| 2 | LYMPHOMA, NON-HODGKIN, FAMILIAL | CASP10, MCH4, ALPS2 |
| PRF1, HPLH2, FLH2 |
| 2 | CORTISONE REDUCTASE DEFICIENCY | H6PD, GDH, G6PDH |
| HSD11B1, HSD11, HSD11L |
| 2 | SCHIZOPHRENIA 9; SCZD9 | RGS4, SCZD9 |
| DISC1, SCZD9 |
| 2 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC; CPVT | CASQ2 |
| RYR2, VTSIP, ARVD2, ARVC2 |
| 2 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 | PPARG, PPARG1, PPARG2 |
| PPP1R3A, PPP1R3 |
| 2 | CATARACT, COPPOCK-LIKE; CCL | CRYGC, CRYG3, CCL |
| CRYBB2, CRYB2 |
| 2 | CATARACT, AUTOSOMAL DOMINANT | BFSP2, CP49, CP47 |
| MIP, AQP0 |
| 2 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | ABCA1, ABC1, HDLDT1, TGD |
| APOA1 |
| 2 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL | ENPP1, PDNP1, NPPS, M6S1, PCA1 |
| COL6A1, OPLL |
| 2 | HEMOCHROMATOSIS, JUVENILE; JH | HJV, HFE2A |
| HAMP, LEAP1, HEPC, HFE2 |
| 2 | HEMANGIOMA, CAPILLARY INFANTILE | KDR |
| FLT4, VEGFR3, PCL |
| 2 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3 | GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID |
| GJB6, CX30, DFNA3, HED, ED2 |
| 2 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | RAG1 |
| RAG2 |
| 2 | DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | HYMAI |
| PLAGL1, ZAC, LOT1 |
| 2 | DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 | ATP2B2, PMCA2 |
| CDH23, USH1D, USH1H |
| 2 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | KRT1 |
| KRT16 |
| 2 | BUDD-CHIARI SYNDROME | F5 |
| JAK2 |
| 2 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | IL7R |
| CD3D, T3D |
| 2 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5 | GARS, SMAD1, CMT2D, HMN5 |
| BSCL2, SPG17, HMN5 |
| 2 | ATRIOVENTRICULAR SEPTAL DEFECT; AVSD | AVSD1, AVCD |
| GJA1, CX43, ODDD, SDTY3, ODOD |
| 2 | FRONTOTEMPORAL DEMENTIA; FTD | PSEN1, AD3 |
| MAPT, MTBT1, DDPAC, MSTD |
| 2 | HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO | IFNGR1 |
| PTPRZ1, PTP18 |
| 2 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2 | GJB3, CX31, DFNA2 |
| KCNQ4, DFNA2 |
| 2 | RETT SYNDROME; RTT | CDKL5, STK9, ISSX |
| MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 2 | MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | MYF6 |
| DMD, BMD, CMD3B |
| 2 | INFANTILE SPASM SYNDROME, X-LINKED | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43 |
| CDKL5, STK9, ISSX |
| 2 | COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM | OPN1MW, GCP, CBD, CBBM |
| OPN1LW, RCP, CBP, CBBM |
| 2 | HYPOSPADIAS, X-LINKED | AR, DHTR, TFM, SBMA, KD, SMAX1 |
| CXorf6, F18 |
| 2 | DENT DISEASE 1 | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 |
| OCRL, LOCR, OCRL1, NPHL2 |
| 2 | WERNER SYNDROME; WRN | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| RECQL2, RECQ3, WRN |
| 2 | SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC | TNFRSF10B, DR5, TRAILR2 |
| ING1 |
| 2 | TIGHT SKIN CONTRACTURE SYNDROME, LETHAL | ZMPSTE24, FACE1, STE24, MADB |
| LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 2 | TESTICULAR TUMORS | KIT, PBT |
| STK11, PJS, LKB1 |
| 2 | REFSUM DISEASE | PEX7, RCDP1 |
| PHYH, PAHX |
| 2 | PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS | AMHR2, AMHR |
| AMH, MIF |
| 2 | D-BIFUNCTIONAL PROTEIN DEFICIENCY | ACAA1 |
| HSD17B4 |
| 2 | MEGALOBLASTIC ANEMIA 1 | CUBN, IFCR, MGA1 |
| AMN |
| 2 | OSTEOGENESIS IMPERFECTA, TYPE III | COL1A2 |
| COL1A1 |
| 2 | OGUCHI DISEASE | SAG |
| GRK1, RHOK, RK |
| 2 | NEUROBLASTOMA | PMX2B, NBPHOX, PHOX2B |
| NME1, NM23 |
| 2 | MYOCLONIC EPILEPSY OF LAFORA | NHLRC1, EPM2A, EPM2B |
| EPM2A, MELF, EPM2 |
| 2 | MYELOMA, MULTIPLE | CCND1, PRAD1, BCL1 |
| LIG4 |
| 2 | MUSCLE-EYE-BRAIN DISEASE; MEB | POMGNT1, MEB |
| FKRP, MDC1C, LGMD2I |
| 2 | LANGER MESOMELIC DYSPLASIA | SHOX, GCFX, SS, PHOG |
| SHOXY |
| 2 | STARGARDT DISEASE 1; STGD1 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| CNGB3, ACHM3 |
| 2 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS | HF1, CFH, HUS, ARMD4 |
| MCP, CD46 |
| 2 | GLYCOGEN STORAGE DISEASE Ic | SLC17A3, NPT4 |
| G6PT1 |
| 2 | FRIEDREICH ATAXIA 1; FRDA | FRDA2 |
| FXN, FRDA, FARR, X25 |
| 2 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D | MCFD2 |
| LMAN1, ERGIC53, F5F8D, MCFD1 |
| 2 | EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA | ITGA6 |
| ITGB4 |
| 2 | EPIDERMODYSPLASIA VERRUCIFORMIS; EV | EVER1, EV1 |
| EVER2, EV2 |
| 2 | ELLIS-VAN CREVELD SYNDROME; EVC | EVC |
| LBN, EVC2 |
| 2 | ECTODERMAL DYSPLASIA, ANHIDROTIC | EDARADD, ED3, EDA3 |
| EDAR, DL, ED3, EDA3 |
| 2 | LACTASE PERSISTENCE | LCT, LAC, LPH |
| MCM6 |
| 2 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; | TREM2 |
| TYROBP, PLOSL, DAP12 |
| 2 | JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2 |
| KCNE1, JLNS, LQT5 |
| 2 | DANDY-WALKER SYNDROME; DWS | ZIC4 |
| ZIC1 |
| 2 | CYSTIC FIBROSIS; CF | CFTR, ABCC7, CF, MRP7 |
| TGFB1, DPD1, CED |
| 2 | CRYPTORCHIDISM, UNILATERAL OR BILATERAL | LGR8, GREAT |
| INSL3 |
| 2 | FRASER SYNDROME | FRAS1 |
| FREM2 |
| 2 | COSTELLO SYNDROME | HRAS |
| KRAS2, RASK2, NS3 |
| 2 | CIRRHOSIS, FAMILIAL | KRT8 |
| KRT18 |
| 2 | OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED | COL11A2, STL3, DFNA13 |
| COL2A1 |
| 2 | CHARGE SYNDROME | SEMA3E, SEMAH, KIAA0331 |
| CHD7, IS3 |
| 2 | CELIAC DISEASE; CD | HLA-DQA1, CELIAC1 |
| HLA-DQB1, CELIAC1 |
| 2 | SITOSTEROLEMIA | ABCG5 |
| ABCG8 |
| 2 | ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE | PTGER2 |
| TBX21, TBET |
| 2 | AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE | MMP20 |
| KLK4, EMSP1, PRSS17 |
| 2 | ALPORT SYNDROME, AUTOSOMAL RECESSIVE | COL4A3 |
| COL4A4 |
| 2 | ALEXANDER DISEASE | NDUFV1, UQOR1 |
| GFAP |
| 2 | OCULOCUTANEOUS ALBINISM, TYPE II; OCA2 | OCA2, P, PED, D15S12, BOCA, EYCL3 |
| MC1R |
| 2 | NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1 | GFI1, ZNF163 |
| ELA2 |
| 2 | AFIBRINOGENEMIA, CONGENITAL | FGA |
| FGB |
| 2 | ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC | MTACR1, WT2 |
| TP53, P53, LFS1 |
| 2 | LIPOID CONGENITAL ADRENAL HYPERPLASIA | STAR |
| CYP11A, P450SCC |
| 2 | ACTH DEFICIENCY | TBS19 |
| CRH |
| 2 | WILLIAMS-BEUREN SYNDROME; WBS | GTF2I, BAP135, WBS |
| GTF2IRD1, GTF3, MUSTRD1, WBS |
| 2 | WHITE SPONGE NEVUS OF CANNON | KRT4, CYK4 |
| KRT13 |
| 2 | VON HIPPEL-LINDAU SYNDROME; VHL | VHL |
| CCND1, PRAD1, BCL1 |
| 2 | DOWN SYNDROME | MTR |
| GATA1, GF1, ERYF1, NFE1 |
| 2 | PREECLAMPSIA/ECLAMPSIA 1; PEE1 | EPHX1 |
| NOS3 |
| 2 | SYMPHALANGISM, PROXIMAL; SYM1 | NOG, SYM1, SYNS1 |
| GDF5, CDMP1, SYNS2 |
| 2 | SARCOIDOSIS | BTNL2 |
| HLA-DR1B |
| 2 | RUBINSTEIN-TAYBI SYNDROME; RSTS | CREBBP, CBP, RSTS |
| EP300 |
| 2 | ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA | MPZ, CMT1B, CMTDI3, CHM, DSS |
| PMP22, CMT1A, CMT1E, DSS |
| 2 | LIDDLE SYNDROME | SCNN1B |
| SCNN1G, PHA1 |
| 2 | PRADER-WILLI SYNDROME; PWS | NDN |
| SNRPN |
| 2 | PORPHYRIA VARIEGATA | PPOX |
| HFE, HLA-H, HFE1 |
| 2 | POLYCYSTIC LIVER DISEASE; PCLD | SEC63 |
| PRKCSH, G19P1, PCLD |
| 2 | PICK DISEASE OF BRAIN | PSEN1, AD3 |
| MAPT, MTBT1, DDPAC, MSTD |
| 2 | PANCREATITIS, HEREDITARY; PCTT | SPINK1, PSTI, PCTT, TATI |
| PRSS1, TRY1 |
| 2 | PACHYONYCHIA CONGENITA, TYPE 2; PC2 | KRT6B, PC2 |
| KRT17, PC2, PCHC1 |
| 2 | PACHYONYCHIA CONGENITA, TYPE 1; PC1 | KRT6A |
| KRT16 |
| 2 | OSTEOGENESIS IMPERFECTA, TYPE IIA | COL1A2 |
| COL1A1 |
| 2 | OSTEOGENESIS IMPERFECTA, TYPE I | COL1A2 |
| COL1A1 |
| 2 | NASOPHARYNGEAL CARCINOMA | NPC1, NPCA1 |
| TP53, P53, LFS1 |
| 2 | MYOCLONIC DYSTONIA | SGCE, DYT11 |
| DRD2 |
| 2 | MUIR-TORRE SYNDROME; MTS | MSH2, COCA1, FCC1, HNPCC1 |
| MLH1, COCA2, HNPCC2 |
| 2 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | SLC25A4, ANT1, T1, PEO3 |
| POLG, POLG1, POLGA, PEO, SANDO, SCAE |
| 2 | THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC | NTRK1, TRKA, MTC |
| RET, MEN2A |
| 2 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| PPARG, PPARG1, PPARG2 |
| 2 | LI-FRAUMENI SYNDROME 1; LFS1 | CDKN2A, MTS1, P16, MLM, CMM2 |
| TP53, P53, LFS1 |
| 2 | KERATOSIS PALMOPLANTARIS STRIATA I | KRT1 |
| DSG1 |
| 2 | HYPOGONADOTROPIC HYPOGONADISM | NELF |
| GPR54 |
| 2 | PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2 | WNK1, PRKWNK1, KDP, PHA2C |
| WNK4, PRKWNK4, PHA2B |
| 2 | HYPERPARATHYROIDISM 1; HRPT1 | HRPT2, C1orf28 |
| MEN1 |
| 2 | PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK | KRT9, EPPK |
| KRT16 |
| 2 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 | HBG1 |
| HBG2 |
| 2 | FIBROMATOSIS, GINGIVAL, 1; GINGF | SOS1, GINGF, GF1, HGF, NS4 |
| GINGF2, GGF2, HGF2 |
| 2 | ERYTHROKERATODERMIA VARIABILIS; EKV | GJB3, CX31, DFNA2 |
| GJB4, CX30.3 |
| 2 | PILOMATRIXOMA | MUTYH, MYH |
| CTNNB1 |
| 2 | EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2 | KRT5, DDD |
| KRT14 |
| 2 | EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE | KRT5, DDD |
| KRT14 |
| 2 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT | COL1A2 |
| COL1A1 |
| 2 | EHLERS-DANLOS SYNDROME, TYPE III | COL3A1 |
| TNXB, TNX, TNXB1, TNXBS, TNXB2 |
| 2 | ECTODERMAL DYSPLASIA 3; ED3 | EDARADD, ED3, EDA3 |
| EDAR, DL, ED3, EDA3 |
| 2 | DEMENTIA, LEWY BODY; DLB | SNCA, NACP, PARK1, PARK4 |
| SNCB |
| 2 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT | TERC, TRC3, TR |
| TERT, TCS1, EST2 |
| 2 | LERI-WEILL DYSCHONDROSTEOSIS; LWD | SHOX, GCFX, SS, PHOG |
| SHOXY |
| 2 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 | INS |
| HNF4A, TCF14, MODY1 |
| 2 | MITOCHONDRIAL COMPLEX III DEFICIENCY | BCS1L, FLNMS, GRACILE, BJS, PTD |
| UQCRB, UQBP, QPC |
| 2 | CUTIS LAXA, AUTOSOMAL DOMINANT | ELN |
| FBLN5, ARMD3 |
| 2 | CREUTZFELDT-JAKOB DISEASE; CJD | HLA-DQB1, CELIAC1 |
| PRNP, PRIP |
| 2 | JACKSON-WEISS SYNDROME; JWS | FGFR1, FLT2, KAL2 |
| FGFR2, BEK, CFD1, JWS |
| 2 | CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN | KRT3 |
| KRT12 |
| 2 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1 | COL8A2, FECD, PPCD2 |
| VSX1, RINX, PPCD, PPD, KTCN |
| 2 | CARDIOMYOPATHY, DILATED, 1A; CMD1A | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| MYBPC3, CMH4 |
| 2 | CAFE-AU-LAIT SPOTS, MULTIPLE | MSH2, COCA1, FCC1, HNPCC1 |
| MLH1, COCA2, HNPCC2 |
| 2 | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A | SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2 |
| HB1, PFHB1B, HBN1 |
| 2 | BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ | KRT1 |
| KRT10 |
| 2 | BRACHYDACTYLY, TYPE A2; BDA2 | BMPR1B, ALK6 |
| GDF5, CDMP1, SYNS2 |
| 2 | BRACHYDACTYLY, TYPE A1; BDA1 | IHH, BDA1 |
| BDA1B |
| 2 | BLOOD GROUP, P SYSTEM | B3GALT3, GLCT3, P |
| A4GALT, PK |
| 2 | ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD | FOXE3, FKHL12, ASMD |
| PITX3, CTPP4 |
| 2 | TOOTH AGENESIS, SELECTIVE, 1; STHAG1 | MSX1, HOX7, HYD1, OFC5 |
| PAX9 |
| 2 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 | HLA-A |
| HLA-B, SPDA1 |
| 2 | ANGELMAN SYNDROME; AS | UBE3A, ANCR |
| MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 2 | DIAMOND-BLACKFAN ANEMIA; DBA | DBA2 |
| RPS19, DBA |
| 2 | AMYLOIDOSIS, FAMILIAL VISCERAL | FGA |
| LYZ |
| 2 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS | MITF, WS2A |
| TYR |
| 2 | GLOBOZOOSPERMIA | SPATA16 |
| GOPC, PIST, FIG, CAL |
| 2 | ACROMEGALY | SSTR5 |
| GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO |
| 2 | PFEIFFER SYNDROME | FGFR1, FLT2, KAL2 |
| FGFR2, BEK, CFD1, JWS |
| 2 | SAETHRE-CHOTZEN SYNDROME; SCS | TWIST, ACS3, SCS |
| FGFR2, BEK, CFD1, JWS |
| 1 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5 | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| 1 | LISSENCEPHALY 3; LIS3 | TUBA1A, TUBA3, LIS3 |
| 1 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA | SLC4A1, AE1, EPB3 |
| 1 | WAARDENBURG SYNDROME, TYPE IIE; WS2E | SOX10, WS4, WS2E |
| 1 | GLYCOGEN STORAGE DISEASE 0, MUSCLE | GYS1, GYS |
| 1 | LEOPARD SYNDROME 2 | RAF1, CRAF, NS5 |
| 1 | NOONAN SYNDROME 5; NS5 | RAF1, CRAF, NS5 |
| 1 | PREMATURE OVARIAN FAILURE 5; POF5 | NOBOX, POF5 |
| 1 | STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9 | HMGA2, HMGIC, BABL, LIPO, STQTL9 |
| 1 | CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3 | CRYBB1, CATCN3 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 | JUP, DP3, PDGB, ARVD12 |
| 1 | PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 | RARS2, RARSL, PCH6 |
| 1 | NEPHRONOPHTHISIS 7; NPHP7 | GLIS2, NPHP7 |
| 1 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6 | PLEKHM1, AP162, KIAA0356, OPTB6 |
| 1 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4 | CLCN7, CLC7, OPTA2, OPTB4 |
| 1 | CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY | CBG, SERPINA6 |
| 1 | MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10 | TLR4, ARMD10 |
| 1 | NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME; NFLS | SPRED1, NFLS |
| 1 | CARDIOMYOPATHY, DILATED, 1W; CMD1W | VCL, CMD1W |
| 1 | CATARACT, CORTICAL, JUVENILE-ONSET | BFSP1, CP115 |
| 1 | USHER SYNDROME, TYPE IID; USH2D | WHRN, CIP98, KIAA1526, DFNB31, USH2D |
| 1 | MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9 | C3, ARMD9 |
| 1 | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3; LCCS3 | PIP5K1C, LCCS3 |
| 1 | ATRIAL SEPTAL DEFECT 4; ASD4 | TBX20, ASD4 |
| 1 | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | ACAD8 |
| 1 | FEBRILE CONVULSIONS, FAMILIAL, 8; FEB8 | GABRG2, GEFSP3, CAE2, ECA2 |
| 1 | ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 | IFT80, KIAA1374, WDR56, ATD2 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J | FIG4, KIAA0274, SAC3 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G | COG1, LDLB, KIAA1381, CDG2G |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H | COG8, DOR1 |
| 1 | EPILEPSY, CHILDHOOD ABSENCE, 4; ECA4 | GABRA1, EJM, ECA4 |
| 1 | MECKEL SYNDROME, TYPE 4; MKS4 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10 |
| 1 | RETINITIS PIGMENTOSA 37 | NR2E3, PNR, ESCS |
| 1 | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF | ACAD9 |
| 1 | LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND | DARS2, ASPRS. LBSL |
| 1 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6 | GRIK2, GLUR6, MRT6 |
| 1 | POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE | LYK5, PMSE |
| 1 | INFLAMMATORY BOWEL DISEASE 10; IBD10 | ATG16L1, APG16L, IBD10 |
| 1 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4 | PLEKHG5, KIAA0720, DSMA4 |
| 1 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 | IRAK3, IRAKM, ASRT5 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24 | RDX, DFNB24 |
| 1 | AUTISM, SUSCEPTIBILITY TO, 10; AUTS10 | EN2, AUTS10 |
| 1 | AUTISM, SUSCEPTIBILITY TO, 9; AUTS9 | MET, AUTS9 |
| 1 | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8 | MEX3C, RKHD2 |
| 1 | PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY | PSAT1, PSAT, EPIP |
| 1 | CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS | TITF1, NKX2A, TTF1 |
| 1 | XFE PROGEROID SYNDROME | ERCC4, XPF |
| 1 | PITT-HOPKINS SYNDROME; PTHS | TCF4, SEF2, ITF2, PTHS |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 | MFSD8, MGC33302 |
| 1 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2 | LRP6, ADCAD2 |
| 1 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 | CD36, CHDS7 |
| 1 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 | CR2, C3DR, SLEB9 |
| 1 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3 | ABCA3, ABC3, SMDP3 |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE VIII | LEPRE1, P3H1, GROS1 |
| 1 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 | SFTPC, SFTP2, SMDP2 |
| 1 | AICARDI-GOUTIERES SYNDROME 5; AGS5 | TREX1, AGS1, AGS5, CRV, HERNS |
| 1 | BRANCHIOOTORENAL SYNDROME 2; BOR2 | SIX5, DMAHP, BOR2 |
| 1 | VESICOURETERAL REFLUX 2; VUR2 | ROBO2, SAX3, KIAA1568 |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE IIB | CRTAP, CASP |
| 1 | CILIARY DYSKINESIA, PRIMARY, 6 | TXNDC3, SPTRX2, CILD6 |
| 1 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR | GGCX |
| 1 | FANCONI ANEMIA, COMPLEMENTATION GROUP N | PALB2, FANCN |
| 1 | HOLOPROSENCEPHALY 9; HPE9 | GLI2, HPE9 |
| 1 | HOLOPROSENCEPHALY 7; HPE7 | PTCH1, NBCCS, BCNS, HPE7 |
| 1 | IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN | MAPBPIP, p14 |
| 1 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | SLC25A3, PHC |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M | TMEM15, DK1, SEC59, KIAA1094 |
| 1 | ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE | ST14, MTSP1 |
| 1 | CORNELIA DE LANGE SYNDROME 3; CDLS3 | CSPG6, SMC3, HCAP, BAM, CDLS3 |
| 1 | CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 | ERCC1, UV20, COFS4 |
| 1 | CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2 | ERCC2, EM9, XPD, COFS2 |
| 1 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4 | CDKN1B, KIP1, CDKN4, MEN4 |
| 1 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 | SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8 |
| 1 | NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE, 3; SCN3 | HAX1, SCN3 |
| 1 | NOONAN SYNDROME 4; NS4 | SOS1, GINGF, GF1, HGF, NS4 |
| 1 | NEPHROTIC SYNDROME, TYPE 3; NPHS3 | PLCE1, KIAA1516, NPHS3 |
| 1 | NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM | PNPLA2, TTS2, ATGL |
| 1 | BRACHYDACTYLY-SYNDACTYLY SYNDROME | HOXD13, HOX4I, SPD, BDSD |
| 1 | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | FGF3, INT2 |
| 1 | MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4 | HF1, CFH, HUS, ARMD4 |
| 1 | JOUBERT SYNDROME 6; JBTS6 | TMEM67, MKS3, JBTS6 |
| 1 | NEMALINE MYOPATHY 7; NEM7 | CFL2, NEM7 |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE VII | CRTAP, CASP |
| 1 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4 | TUFM, EFTU, COXPD4 |
| 1 | AUTISM, SUSCEPTIBILITY TO, 7; AUTS7 | AUTS7 |
| 1 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB | ERCC3, XPB |
| 1 | DIAMOND-BLACKFAN ANEMIA 3 | RPS24, DBA3 |
| 1 | KALLMANN SYNDROME 4; KAL4 | PROK2, PK2, BV8, KAL4 |
| 1 | CATARACT, POSTERIOR POLAR, 4; CTPP4 | PITX3, CTPP4 |
| 1 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE III | F12, HAF, HAE3 |
| 1 | LEBER CONGENITAL AMAUROSIS, TYPE XII; LCA12 | C1orf36, RD3, LCA12 |
| 1 | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | CYP11B2 |
| 1 | RETINITIS PIGMENTOSA 36; RP36 | PRCD, RP36 |
| 1 | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| 1 | HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT | UNC93B1 |
| 1 | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS | INSR, HHF5 |
| 1 | GAUCHER DISEASE, ATYPICAL, DUE TO SAP2 DEFICIENCY | PSAP, SAP1 |
| 1 | HYPOMYELINATION AND CONGENITAL CATARACT | FAM126A, DRCTNNB1A |
| 1 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VII; MODY7 | KLF11, TIEG2, FKLF1, FKLF, MODY7 |
| 1 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 | TSFM, COXPD3 |
| 1 | PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM | CBP2, SERPINH2, PPROM |
| 1 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 | MRPS16, COXPD2 |
| 1 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 | PRKAR1A, TSE1, CNC1, CAR, PPNAD1 |
| 1 | RETINAL CONE DYSTROPHY 4; RCD4 | CACNA2D4, RCD4 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 | DSC2, DSC3, ARVD11 |
| 1 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 | PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2 |
| 1 | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | FGFR3, ACH |
| 1 | THIOPURINE S-METHYLTRANSFERASE DEFICIENCY | TPMT |
| 1 | TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC | SAMD9, NFTC |
| 1 | CHILBLAIN LUPUS; CHBL | TREX1, AGS1, AGS5, CRV, HERNS |
| 1 | TESTICULAR MICROLITHIASIS | SLC34A2 |
| 1 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B | CABP4, CSNB2B |
| 1 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 4 | CRYBA4 |
| 1 | CATARACT, LAMELLAR 2 | CRYBA4 |
| 1 | CONE-ROD DYSTROPHY 11 | RAXL1, QRX, CORD11, ARMD6 |
| 1 | AORTIC ANEURYSM, FAMILIAL THORACIC 5 | TGFBR1, ALK5, AAT5 |
| 1 | WEST NILE VIRUS, SUSCEPTIBILITY TO | CMKBR5, CCCKR5 |
| 1 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| 1 | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4 | CHRNA2 |
| 1 | AICARDI-GOUTIERES SYNDROME 4; AGS4 | RNASEH2A, RNHIA, AGS4 |
| 1 | AICARDI-GOUTIERES SYNDROME 3; AGS3 | RNASEH2C, AYP1, FLJ20974 |
| 1 | COLD-INDUCED SWEATING SYNDROME 2; CISS2 | CLCF1, BSF3, CLC |
| 1 | PARKINSON DISEASE 13; PARK13 | HTRA2, OMI, PARK13, PRSS25 |
| 1 | GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY | PIGM |
| 1 | CONE-ROD DYSTROPHY 10; CORD10 | SEMA4A, SEMB, RP35, CORD10 |
| 1 | RETINITIS PIGMENTOSA 35; RP35 | SEMA4A, SEMB, RP35, CORD10 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67 | TBX6, DFNB67 |
| 1 | APHAKIA, CONGENITAL PRIMARY | FOXE3, FKHL12, ASMD |
| 1 | CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME | EHMT1, EUHMTASE1 |
| 1 | SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31 | REEP1, C2ORF23, SPG31 |
| 1 | ESOPHAGITIS, EOSINOPHILIC | CCL26, SCYA26 |
| 1 | SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 | ZFYVE27, SPG33 |
| 1 | HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS | GALNT3, HHS, HFTC |
| 1 | SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS | ZNF750, FLJ13841 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 | PJVK, DFNB59 |
| 1 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2; NBIA2 | PLA2G6, IPLA2, INAD1 |
| 1 | ALAGILLE SYNDROME 2; ALGS2 | NOTCH2, AGS2 |
| 1 | CATARACT, PULVERULENT, JUVENILE-ONSET | MAF |
| 1 | DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM | GLIS3, ZNF515 |
| 1 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE V | DNAJC19, TIM14 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10 | DSG2, ARVD10, ARVC10 |
| 1 | SENIOR-LOKEN SYNDROME 6; SLSN6 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10 |
| 1 | JOUBERT SYNDROME 5; JBTS5 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10 |
| 1 | DIAPHRAGMATIC HERNIA 3 | ZFPM2, FOG2, DIH3 |
| 1 | FURLONG SYNDROME: FS | TGFBR1, ALK5, AAT5 |
| 1 | IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA | CD247, CD3Z, TCRZ |
| 1 | DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19 | IFIH1, MDA5, IDDM19 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | MARVELD2, MARVD2, TRIC, DFNB49 |
| 1 | MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7 | HTRA1, PRSS11, ARMD7 |
| 1 | QT INTERVAL, VARIATION IN | NOS1AP, CAPON, KIAA0464 |
| 1 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | POLG2, POLGB, PEOA4 |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 | CTSD, CPSD, CLN10 |
| 1 | MICROPHTHALMIA, SYNDROMIC 5; MCOPS5 | OTX2, MCOPS5 |
| 1 | COMPLEMENT COMPONENT 7 DEFICIENCY | C7 |
| 1 | MICROPHTHALMIA, ISOLATED 2; MCOP2 | CHX10, HOX10, MCOP2, MCOPCB3 |
| 1 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 | CHX10, HOX10, MCOP2, MCOPCB3 |
| 1 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | PNPO |
| 1 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | BMPR1A, ACVRLK3, ALK3 |
| 1 | CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD | DCN, CSCD |
| 1 | CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | CNTNAP2, CASPR2, NRXN4, CDFE |
| 1 | RETINAL CONE DYSTROPHY 3A; RCD3A | PDE6H, RCD3 |
| 1 | MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2 | GDF5, CDMP1, SYNS2 |
| 1 | GLUTAMINE DEFICIENCY, CONGENITAL | GLUL, GLNS |
| 1 | 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | ACADSB, SBCAD |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | CLN8, EPMR |
| 1 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4 | HADHSC, SCHAD, HHF4 |
| 1 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 | INSR, HHF5 |
| 1 | NOONAN SYNDROME 3 | KRAS2, RASK2, NS3 |
| 1 | AMINOACYLASE 1 DEFICIENCY | ACY1, ACY1D |
| 1 | RETINITIS PIGMENTOSA 31; RP31 | TOPORS, P53BP3, LUN, RP31 |
| 1 | CARDIOMYOPATHY, DILATED, 1P; CMD1P | PLN, PLB, CMD1P |
| 1 | ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE | RAG1 |
| 1 | GLAUCOMA 1, OPEN ANGLE, G; GLC1G | WDR36, TAWDRP, GLC1G |
| 1 | GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA | UMOD, HNFJ, FJHN, MCKD2, ADMCKD2 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 | TRIOBP, KIAA1662 |
| 1 | BLEEDING DISORDER DUE TO P2RY12 DEFECT | P2RY12, P2Y12 |
| 1 | ERYTHROCYTOSIS, FAMILIAL, 3 | EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3 |
| 1 | COMPLEMENT FACTOR H DEFICIENCY | HF1, CFH, HUS, ARMD4 |
| 1 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3 | LFNG, SCDO3 |
| 1 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, WITH EXOCRINE DYSFUNCTION; | CEL, BSSL, CELL, MODY8 |
| 1 | PEELING SKIN SYNDROME, ACRAL TYPE | TGM6, TGX |
| 1 | CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 | CTLA4, IDDM12, CELIAC3 |
| 1 | CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4 | MYO9B, MYR5, CELIAC4 |
| 1 | CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2 | CRYBB3, CRYB3, CATCN2 |
| 1 | THYROID HORMONE METABOLISM, ABNORMAL | SECISBP2, SBP2 |
| 1 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC | DSP, KPPS2, PPKS2 |
| 1 | HOLOPROSENCEPHALY 5; HPE5 | ZIC2, HPE5 |
| 1 | MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 | SCN1A, GEFSP2, SMEI, FEB3 |
| 1 | SHORT QT SYNDROME 3; SQT3 | KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3 |
| 1 | SHORT QT SYNDROME 2; SQT2 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2 |
| 1 | SHORT QT SYNDROME 1; SQT1 | KCNH2, LQT2, HERG, SQT1 |
| 1 | PARIETAL FORAMINA 2; PFM2 | ALX4, PFM2, FPP |
| 1 | JOUBERT SYNDROME 4; JBTS4 | NPHP1, NPH1, SLSN1, JBTS4 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 | PCDH15, DFNB23, USH1H |
| 1 | IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2 | TNFRSF13B, TACI, CVID |
| 1 | CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA | SNAP29, CEDNIK |
| 1 | SARCOIDOSIS, EARLY-ONSET | NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 |
| 1 | GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME | KIAA1279 |
| 1 | MYOPATHY, MYOFIBRILLAR, ZASP-RELATED | LDB3, ZASP, CYPHER, KIAA01613 |
| 1 | GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD | KCNMA1, SLO |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H | FGD4, FRABIN |
| 1 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 | MLH1, COCA2, HNPCC2 |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K | POMT1 |
| 1 | SPINOCEREBELLAR ATAXIA 27; SCA27 | FGF14, FHF4, SCA27 |
| 1 | MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN | SLC25A22, GC1 |
| 1 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, | C10orf2, TWINKLE, PEO1, PEOA3, SANDO |
| 1 | LI-FRAUMENI SYNDROME 2; LFS2 | CHEK2, RAD53, CHK2, CDS1, LFS2 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 | MFN2, KIAA0214, CMT2A2 |
| 1 | SENIOR-LOKEN SYNDROME 5; SLSN5 | IQCB1, NPHP5, KIAA0036 |
| 1 | KANZAKI DISEASE | NAGA |
| 1 | SCHINDLER DISEASE, TYPE I | NAGA |
| 1 | GRISCELLI SYNDROME, TYPE 3; GS3 | MLPH |
| 1 | BRUCK SYNDROME 2 | PLOD2 |
| 1 | MYOTILINOPATHY | TTID, MYOT |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F | MPDU1, SL15, CDGIF |
| 1 | HYPERTHYROIDISM, NONAUTOIMMUNE | TSHR |
| 1 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3 | TCF8, PPCD3 |
| 1 | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, | SOX10, WS4, WS2E |
| 1 | DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS | PTF1A |
| 1 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 | GFM1, EFG1, GFM, COXPD1 |
| 1 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | CD151, PETA3, SFA1, MER2 |
| 1 | AMISH INFANTILE EPILEPSY SYNDROME | SIAT9, ST3GALV |
| 1 | FANCONI ANEMIA, COMPLEMENTATION GROUP J | BRIP1, BACH1, FANCJ |
| 1 | PIERSON SYNDROME | LAMB2, LAMS |
| 1 | MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3 | CDK4, CMM3 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 | PKP2, ARVD9 |
| 1 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 36; DFNB36 | ESPN |
| 1 | PREMATURE OVARIAN FAILURE 3; POF3 | FOXL2, BPES, BPES1, PFRK, POF3 |
| 1 | CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3 | CRYGD, CRYG4, CCP |
| 1 | AORTIC ANEURYSM, FAMILIAL THORACIC 3 | TGFBR2, HNPCC6, AAT3, MFS2 |
| 1 | CD8 DEFICIENCY, FAMILIAL | CD8A |
| 1 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | UNC13D, MUNC13-4, HPLH3, HLH3, FHL3 |
| 1 | MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3 | FBLN5, ARMD3 |
| 1 | WAARDENBURG SYNDROME, TYPE IID | SNAI2, SLUG, WS2D |
| 1 | OROFACIAL CLEFT 5 | MSX1, HOX7, HYD1, OFC5 |
| 1 | OROFACIAL CLEFT 6 | IRF6, VWS, LPS, PIT, PPS, OFC6 |
| 1 | MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D | LARGE, KIAA0609, MDC1D |
| 1 | CARNEY COMPLEX VARIANT | MYH8 |
| 1 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CPT2 |
| 1 | ALPHA-B CRYSTALLINOPATHY | CRYAB, CRYA2, CTPP2 |
| 1 | TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 | THRAP2, PROSIT240, TRAP240L, KIAA1025 |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF |
| 1 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY | COL2A1 |
| 1 | PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1 | GJC2, GJA12, CX47, PMLDAR |
| 1 | SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT | TSPYL1, TSPYL, SIDDT |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E | DPM1, MPDS, CDGIE |
| 1 | PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY | PPM2C, PDP1, PDPC |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E | COG7, CDG2E |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L | ALG9, DIBD1 |
| 1 | SPINOCEREBELLAR ATAXIA 8; SCA8 | SCA8 |
| 1 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 | CHD7, IS3 |
| 1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 | MYL2, CMH10 |
| 1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 | MYL3, CMH8 |
| 1 | INSULIN-LIKE GROWTH FACTOR I DEFICIENCY | IGF1 |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED | MATN3, EDM5, HOA |
| 1 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5 | ASPM, MCPH5 |
| 1 | BARRAQUER-SIMONS SYNDROME | LMNB2, LMN2 |
| 1 | AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF | ATIC, PURH, AICAR |
| 1 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2 | MESP2, SCDO2 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L | HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A |
| 1 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 | NGFB, HSAN5 |
| 1 | CILIARY DYSKINESIA, PRIMARY, 3 | DNAH5, HL1, PCD, CILD3 |
| 1 | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY | DDC |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28 | TFCP2L3, DFNA28 |
| 1 | SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE | CHST3, C6ST, C6ST1 |
| 1 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B | HSPB1, HSP27, CMT2F, HMN2B |
| 1 | JOUBERT SYNDROME 3; JBTS3 | AHI1 |
| 1 | AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 | VAPB, VAPC, ALS8 |
| 1 | NEUROECTODERMAL TUMORS, SUPRATENTORIAL PRIMITIVE, WITH CAFE-AU-LAIT | PMS2, PMSL2, HNPCC4 |
| 1 | HYPERTENSION, DIASTOLIC, RESISTANCE TO | KCNMB1 |
| 1 | OLIGODONTIA-COLORECTAL CANCER SYNDROME | AXIN2 |
| 1 | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB | ZMPSTE24, FACE1, STE24, MADB |
| 1 | RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY | RPIA, RPI |
| 1 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 | AGPAT2, LPAAB, BSCL, BSCL1 |
| 1 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 | GPR154, GPRA, VRR1, PGR14, ASRT2 |
| 1 | CARDIOMYOPATHY, DILATED, 1O; CMD1O | ABCC9, SUR2, CMD1O |
| 1 | SICK SINUS SYNDROME, AUTOSOMAL RECESSIVE, 1; SSS1 | SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2 |
| 1 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND OPENBITE MALOCCLUSION, AUTOSOMAL | ENAM, AIH2 |
| 1 | LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO | TLR5, TIL3, SLEB1 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K | ALG1, HMAT1, HMT1 |
| 1 | CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE | MUTYH, MYH |
| 1 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3 | CC2D1A, MRT3 |
| 1 | PLATELET GLYCOPROTEIN IV DEFICIENCY | CD36, CHDS7 |
| 1 | KARAK SYNDROME | PLA2G6, IPLA2, INAD1 |
| 1 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6 | CEMPJ, CPAP, MCPH6 |
| 1 | MYOTONIA, POTASSIUM-AGGRAVATED | SCN4A, HYPP, NAC1A |
| 1 | BRANCHIOOTIC SYNDROME 3; BOS3 | SIX1, BOS3, DFNA23 |
| 1 | RETINITIS PIGMENTOSA 26; RP26 | CERKL |
| 1 | SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE | AGC1, CSPG1, MSK16, SEDK |
| 1 | MYOPATHY, MYOSIN STORAGE | MYH7, CMH1, MPD1, CMD1S |
| 1 | PARKES WEBER SYNDROME | RASA1, GAP, CMAVM, PKWS |
| 1 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION | RASA1, GAP, CMAVM, PKWS |
| 1 | WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT | FBN1, MFS1, WMS |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C | YARS, CMTDIC, TYRRS, YTS, YRS |
| 1 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 | MEF2A, ADCAD1 |
| 1 | PARATHYROID CARCINOMA | HRPT2, C1orf28 |
| 1 | SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT | ARHGEF10, KIAA0294 |
| 1 | HERMANSKY-PUDLAK SYNDROME 2; HPS2 | AP3B1, ADTB3A, HPS2 |
| 1 | LEUKEMIA, CHRONIC MYELOID; CML | BCR, CML, PHL, ALL |
| 1 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | RAC2 |
| 1 | CONE-ROD DYSTROPHY 9; CORD9 | RPGRIP1, LCA6, CORD9 |
| 1 | TROPICAL CALCIFIC PANCREATITIS | SPINK1, PSTI, PCTT, TATI |
| 1 | SYNPOLYDACTYLY 2; SPD2 | FBLN1 |
| 1 | RETINITIS PIGMENTOSA 7; RP7 | RDS, RP7, PRPH2, PRPH, AVMD, AOFMD |
| 1 | OVARIAN HYPERSTIMULATION SYNDROME | FSHR, ODG1 |
| 1 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 | UNG, DGU, HIGM4 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H | ALG8 |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D | SGCA, ADL, DAG2, LGMD2D, DMDA2 |
| 1 | HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE | ARFGEF2, BIG2 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J | DPAGT2, DGPT |
| 1 | LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY, | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA | FANCI, KIAA1794 |
| 1 | GAUCHER DISEASE, PERINATAL LETHAL | GBA |
| 1 | ATRIAL SEPTAL DEFECT 2; ASD2 | GATA4 |
| 1 | RETINITIS PIGMENTOSA 30; RP30 | FSCN2, RFSN |
| 1 | CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I | ALG2, CDGII |
| 1 | HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH | DSG4, LAH |
| 1 | CAUDAL DUPLICATION ANOMALY | AXIN1, AXIN |
| 1 | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | LAMA2, LAMM |
| 1 | HAND OSTEOARTHRITIS; HOA | MATN3, EDM5, HOA |
| 1 | NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS | GFI1, ZNF163 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION | MYO1A, DFNA48 |
| 1 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1 | FOXD3, AIS1 |
| 1 | NEUROTICISM | SLC6A4, HTT, OCD1 |
| 1 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3 | CD2AP, CMS |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K | GDAP1, CMT4A, CMT2K, CMT2G |
| 1 | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME | SOX18, HLTS |
| 1 | ALZHEIMER DISEASE 3 | PSEN1, AD3 |
| 1 | DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37 | MYO6, DFNA22, DFNB37 |
| 1 | CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD | SEC23A, CLSD |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C | CAV3, LGMD1C |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D | MPZ, CMT1B, CMTDI3, CHM, DSS |
| 1 | ACROCAPITOFEMORAL DYSPLASIA; ACFD | IHH, BDA1 |
| 1 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 | HSD3B7, PFIC4 |
| 1 | SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE | SCN2A1, SCN2A |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J | MPZ, CMT1B, CMTDI3, CHM, DSS |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F | NEFL, CMT2E, CMT1F |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL | GDAP1, CMT4A, CMT2K, CMT2G |
| 1 | ANDERSON DISEASE | SARA2, SAR1B, CMRD |
| 1 | HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES | PDGFRA |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E | NEFL, CMT2E, CMT1F |
| 1 | EPILEPSY, CHILDHOOD ABSENCE, 3 | CLCN2, EGMA, ECA3, EGI3 |
| 1 | EPILEPSY, CHILDHOOD ABSENCE, 2 | GABRG2, GEFSP3, CAE2, ECA2 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D | EGR2, KROX20 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I | MPZ, CMT1B, CMTDI3, CHM, DSS |
| 1 | IRAK4 DEFICIENCY | IRAK4, REN64, IPD1 |
| 1 | SKIN FRAGILITY-WOOLLY HAIR SYNDROME | DSP, KPPS2, PPKS2 |
| 1 | KERATOSIS PALMOPLANTARIS STRIATA III | KRT1 |
| 1 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B | DCTN1, HMN7B |
| 1 | VAN BUCHEM DISEASE, TYPE 2 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | EPILEPSY, JUVENILE ABSENCE; JAE | CLCN2, EGMA, ECA3, EGI3 |
| 1 | EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING | CLCN2, EGMA, ECA3, EGI3 |
| 1 | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS | CLDN1, SEMP1, ILVASC |
| 1 | NIEMANN-PICK DISEASE, TYPE C2 | NPC2, HE1 |
| 1 | GRISCELLI SYNDROME, TYPE 2; GS2 | RAB27A, RAM, GS2 |
| 1 | NIEMANN-PICK DISEASE, TYPE B | SMPD1, NPD |
| 1 | LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 | ERBB3, LCCS2 |
| 1 | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | COL4A1 |
| 1 | ICOS DEFICIENCY | ICOS, AILIM |
| 1 | LEPROSY, SUSCEPTIBILITY TO, 2 | PRKN, PARK2, PDJ, LPRS2 |
| 1 | CORNEAL DYSTROPHY, AVELLINO TYPE; CDA | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | TOENAIL DYSTROPHY, ISOLATED | COL7A1 |
| 1 | PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO | NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 |
| 1 | BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1 | BDNF |
| 1 | CARDIOMYOPATHY, DILATED, 1N; CMD1N | TCAP, LGMD2G, CMD1N |
| 1 | KNOPS BLOOD GROUP SYSTEM; KN | CR1, C3BR |
| 1 | FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; | GRN |
| 1 | BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE | SLC19A3 |
| 1 | CARDIOMYOPATHY, DILATED, 1M; CMD1M | CSRP3, CRP3, CLP, CMD1M |
| 1 | NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD | RLBP1 |
| 1 | BOTHNIA RETINAL DYSTROPHY | RLBP1 |
| 1 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 | VKORC1, VKOR, VKCFD2, FLJ00289 |
| 1 | GIL BLOOD GROUP | AQP3 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44; DFNA44 | CCDC50, C3orf6, DFNA44 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 | DSP, KPPS2, PPKS2 |
| 1 | LISSENCEPHALY 1; LIS1 | PAFAH1B1, LIS1 |
| 1 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 | CRBN, MRT2A |
| 1 | GLUCOCORTICOID DEFICIENCY 2; GCCD2 | MRAP, FALP, C21orf61, GCCD2, FGD2 |
| 1 | BARTTER SYNDROME, TYPE 3 | CLCNKB |
| 1 | MECKEL SYNDROME, TYPE 3; MKS3 | TMEM67, MKS3, JBTS6 |
| 1 | FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT | TSC1, LAM |
| 1 | LATHOSTEROLOSIS | SC5DL, ERG3 |
| 1 | SMITH-MCCORT DYSPLASIA; SMC | DYM, FLJ90130, DMC, SMC |
| 1 | DUANE-RADIAL RAY SYNDROME; DRRS | SALL4, HSAL4 |
| 1 | CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY | CETP, HDLCQ10 |
| 1 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS | ROBO3, RBIG1, RIG1, HGPPS |
| 1 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 | PTGDR, AS1, ASRT1 |
| 1 | RESTING HEART RATE | ADRB1, ADRB1R, RHR |
| 1 | CASPASE 8 DEFICIENCY | CASP8, MCH5, ALPS2B |
| 1 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 | PGN, SPG7, CMAR, CAR |
| 1 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; | TDP1 |
| 1 | HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, | PANK2, NBIA1, PKAN, HARP |
| 1 | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP | ALS2, ALSJ, PLSJ, IAHSP |
| 1 | THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6 | DUOX2, THOX2 |
| 1 | MICROCEPHALY, AMISH TYPE; MCPHA | SLC25A19, DNC, MUP1, MCPHA |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I | FKRP, MDC1C, LGMD2I |
| 1 | ALLERGIC RHINITIS | IL13, ALRH, BHR1 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G | ALG12 |
| 1 | SPINOCEREBELLAR ATAXIA 17; SCA17 | TBP, SCA17 |
| 1 | CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES | CRYBB2, CRYB2 |
| 1 | CINCA SYNDROME; CINCA | CIAS1, FCU, FCAS, NALP3, PYPAF1 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30 | MYO3A, DFNB30 |
| 1 | ANAUXETIC DYSPLASIA | RMRP, RMRPR, CHH |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D | B4GALT1, GGTB2, GT1, GTB |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31 | WHRN, CIP98, KIAA1526, DFNB31, USH2D |
| 1 | GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | DHH |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5 | MATN3, EDM5, HOA |
| 1 | PARKINSON DISEASE 8; PARK8 | LRRK2, PARK8 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 | OTOA, DFNB22 |
| 1 | SCHEIE SYNDROME | IDUA, IDA |
| 1 | HURLER-SCHEIE SYNDROME | IDUA, IDA |
| 1 | HURLER SYNDROME | IDUA, IDA |
| 1 | SENIOR-LOKEN SYNDROME 4; SLSN4 | NPHP4, SLSN4 |
| 1 | NEPHRONOPHTHISIS 4; NPHP4 | NPHP4, SLSN4 |
| 1 | ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B | TYR |
| 1 | USHER SYNDROME, TYPE IG; USH1G | SANS, USH1G |
| 1 | ALZHEIMER DISEASE 4 | PSEN2, AD4, STM2 |
| 1 | PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION | MCPH1 |
| 1 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | PALLD, KIAA0992, PNCA1 |
| 1 | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL | GPR56, TM7XN1, BFPP |
| 1 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 | TNFRSF5, CD40 |
| 1 | GLUCOSE/GALACTOSE MALABSORPTION; GGM | SLC5A1, SGLT1 |
| 1 | FUMARASE DEFICIENCY | FH |
| 1 | STROKE, SUSCEPTIBILITY TO, 1 | PDE4D, DPDE3, STRK1 |
| 1 | BLEPHAROSPASM, BENIGN ESSENTIAL | DRD5, DRD1B, DRD1L2 |
| 1 | CRIGLER-NAJJAR SYNDROME, TYPE II | UGT1A1, UGT1, GNT1 |
| 1 | GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER | SLC2A1, GLUT1 |
| 1 | MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT | DYSF, LGMD2B |
| 1 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 | GLUD1 |
| 1 | MELANOMA-PANCREATIC CANCER SYNDROME | CDKN2A, MTS1, P16, MLM, CMM2 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 36; DFNA36 | TMC1, DFNB7, DFNB11, DFNA36 |
| 1 | KUFOR-RAKEB SYNDROME; KRS | ATP13A2, PARK9, KRPPD |
| 1 | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | PRNP, PRIP |
| 1 | CARDIOMYOPATHY, DILATED, 1L; CMD1L | SGCD, SGD, LGMD2F, CMD1L |
| 1 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY | GNMT |
| 1 | NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART | DTNA, D18S892E, DRP3, LVNC1 |
| 1 | MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C | FKRP, MDC1C, LGMD2I |
| 1 | SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA | LHX4 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F | HSPB1, HSP27, CMT2F, HMN2B |
| 1 | LIG4 SYNDROME | LIG4 |
| 1 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; | NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1 |
| 1 | OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4 | SLC45A2, MATP, AIM1 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B | DNM2, CMTDIB, CMTDI1 |
| 1 | HUNTINGTON DISEASE-LIKE 2; HDL2 | JPH3, JP3, HDL2 |
| 1 | MYOKYMIA WITH NEONATAL EPILEPSY | KCNQ2, EBN1 |
| 1 | EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY | TNXB, TNX, TNXB1, TNXBS, TNXB2 |
| 1 | HYPOTONIA-CYSTINURIA SYNDROME | SLC3A1, ATR1, D2H, NBAT |
| 1 | EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE | MAPK10, PRKM10, JNK3 |
| 1 | SPINOCEREBELLAR ATAXIA 16; SCA16 | CNTN4, SCA16 |
| 1 | PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ | ALS2, ALSJ, PLSJ, IAHSP |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22 | MYO6, DFNA22, DFNB37 |
| 1 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | DJ1, PARK7 |
| 1 | ALVEOLAR SOFT-PART SARCOMA; ASPS | ASPSCR1, RCC17, ASPL, ASPS |
| 1 | CHROMOSOME 22q13.3 DELETION SYNDROME | SHANK3, PSAP2, PROSAP2, KIAA1650 |
| 1 | ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 | CRELD1, AVSD2 |
| 1 | BASAL GANGLIA DISEASE, ADULT-ONSET | FTL |
| 1 | HEMOCHROMATOSIS, TYPE 4; HFE4 | SLC40A1, SLC11A3, FPN1, IREG1, HFE4 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B | GCS1 |
| 1 | TRANSALDOLASE DEFICIENCY | TALDO1 |
| 1 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 | SETX, SCAR1, AOA2, ALS4 |
| 1 | URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO | ZNF365, UAN |
| 1 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY | HMGCS2 |
| 1 | PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 | PINK1, PARK6 |
| 1 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD | DMGDH, DMGDHD |
| 1 | LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY | FH |
| 1 | NONAKA MYOPATHY; NM | GNE, GLCNE, IBM2, DMRV, NM |
| 1 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | SLC25A13, CTLN2 |
| 1 | MYASTHENIA, FAMILIAL INFANTILE, 1 | CMS1A1, FIM1 |
| 1 | DERMATITIS, ATOPIC, 4; ATOD4 | SOCS3, SSI3, CIS3, ATOD4 |
| 1 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 | BRCA2, FANCD1 |
| 1 | AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, IOWA TYPE | APP, AAA, CVAP, AD1 |
| 1 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA | DSP, KPPS2, PPKS2 |
| 1 | LATE-ONSET RETINAL DEGENERATION; LORD | C1QTNF5, CTRP5, LORD |
| 1 | INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3 | MYH2 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | ABDOMINAL OBESITY-METABOLIC SYNDROME | MTP |
| 1 | PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4 | SNCA, NACP, PARK1, PARK4 |
| 1 | USHER SYNDROME, TYPE IIC; USH2C | MASS1, VLGR1, KIAA0686, FEB4, USH2C |
| 1 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA | HOXA11, HOX1I |
| 1 | HYPOTRICHOSIS SIMPLEX | TGIF, HPE4 |
| 1 | CATARACT, POSTERIOR POLAR, 3; CTPP3 | CHMP4B, SNF7, CTPP3 |
| 1 | HETEROTAXY, VISCERAL, 2, AUTOSOMAL | CFC1, CRYPTIC, HTX2 |
| 1 | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 | CHRNB2, EFNL3 |
| 1 | PARAGANGLIOMAS 3; PGL3 | SDHC, PGL3 |
| 1 | CARDIOMYOPATHY, DILATED, 1J; CMD1J | EYA4, DFNA10, CMD1J |
| 1 | SPINOCEREBELLAR ATAXIA 14; SCA14 | PRKCG, PKCC, PKCG, SCA14 |
| 1 | NEMALINE MYOPATHY 5; NEM5 | TNNT1, ANM |
| 1 | DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10; DFNB10 | TMPRSS3, ECHOS1, DFNB8, DFNB10 |
| 1 | MACROCEPHALY/AUTISM SYNDROME | PTEN, MMAC1 |
| 1 | SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 | TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 | HSPD1, SPG13, HSP60 |
| 1 | SPINOCEREBELLAR ATAXIA 13; SCA13 | KCNC3, SCA13 |
| 1 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 | AICDA, AID, HIGM2 |
| 1 | SEBASTIAN SYNDROME; SBS | MYH9, MHA, FTNS, DFNA17 |
| 1 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2 | PDCD1, SLEB2 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 | SIX1, BOS3, DFNA23 |
| 1 | MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA | MMP2, CLG4A, MONA |
| 1 | HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION | NR3C2, MLR, MCR |
| 1 | C-LIKE SYNDROME | CD96, TACTILE |
| 1 | EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3 | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | WOLFRAM SYNDROME 2; WFS2 | CISD2, WFS2, ZCD2, ERIS |
| 1 | NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC | CIRH1A, NAIC, TEX292, KIAA1988 |
| 1 | OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA | COL2A1 |
| 1 | STICKLER SYNDROME, TYPE II; STL2 | COL11A1, STL2 |
| 1 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3 | CDK5RAP2, KIAA1633, MCPH3 |
| 1 | ICHTHYOSIS, LAMELLAR, 3; LI3 | CYP4F22, LI3 |
| 1 | CARDIOMYOPATHY, DILATED, 1I; CMD1I | DES, CMD1I |
| 1 | CRANIOSYNOSTOSIS, TYPE 2; CRS2 | MSX2, CRS2, HOX8 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 | ACTG1, DFNA20, DFNA26 |
| 1 | ORTHOSTATIC INTOLERANCE | SLC6A2, NAT1, NET1 |
| 1 | TOOTH AGENESIS, SELECTIVE, 3; STHAG3 | PAX9 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 | SBF2, MTMR13, CMT4B2 |
| 1 | LEBER CONGENITAL AMAUROSIS, TYPE V; LCA5 | LCA5, C6orf152 |
| 1 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | PKP1 |
| 1 | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT | MPL, TPOR, MPLV |
| 1 | SPINOCEREBELLAR ATAXIA 11; SCA11 | TTBK2, SCA11 |
| 1 | PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE | PSTPIP1, PSTPIP, CD2BP1, PAPAS |
| 1 | FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3 | SCN1A, GEFSP2, SMEI, FEB3 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 | LAMR1, LAMBR |
| 1 | LEBER CONGENITAL AMAUROSIS, TYPE IV; LCA4 | AIPL1, LCA4 |
| 1 | ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD | MRE11A, MRE11, ATLD |
| 1 | NEPHRONOPHTHISIS 3; NPHP3 | NPHP3, NPH3 |
| 1 | HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH | LIPH |
| 1 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE | SCO2 |
| 1 | SIALURIA, FINNISH TYPE | SLC17A5, SIASD, SLD |
| 1 | SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 | SPG11, KIAA1840, FLJ21439 |
| 1 | FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4 | MASS1, VLGR1, KIAA0686, FEB4, USH2C |
| 1 | ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL | PER2, FASPS, KIAA0347 |
| 1 | SPINOCEREBELLAR ATAXIA 12; SCA12 | PPP2R2B |
| 1 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 | IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6 |
| 1 | MASS SYNDROME | FBN1, MFS1, WMS |
| 1 | RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE | MIF |
| 1 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME | TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | ACERULOPLASMINEMIA | CP |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E | SGCB, LGMD2E |
| 1 | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL | SLC4A4, NBC1, KNBC, SLC4A5 |
| 1 | ATPAF2 DEFICIENCY | ATPAF2, ATP12 |
| 1 | HEMOCHROMATOSIS, TYPE 3; HFE3 | TFR2, HFE3 |
| 1 | LEBER CONGENITAL AMAUROSIS, TYPE III | RDH12, LCA3 |
| 1 | PETERS ANOMALY | CYP1B1, GLC3A |
| 1 | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB | SERPINI1, PI12 |
| 1 | SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 | KIF5A, NKHC, SPG10 |
| 1 | NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL | DTNA, D18S892E, DRP3, LVNC1 |
| 1 | CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY | CTDP1, FCP1, CCFDN |
| 1 | CARDIOMYOPATHY, DILATED, 1G; CMD1G | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF |
| 1 | EPIDERMOLYSIS BULLOSA PRURIGINOSA | COL7A1 |
| 1 | VOHWINKEL SYNDROME, VARIANT FORM | LOR |
| 1 | CONE-ROD DYSTROPHY 3; CORD3 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| 1 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC | MLC1, LVM, VL |
| 1 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2 | TRPC6, TRP6, FSGS2 |
| 1 | CERVICAL CANCER | FGFR3, ACH |
| 1 | DIABETIC NEPHROPATHY, SUSCEPTIBILITY TO | ACE, DCP1, ACE1 |
| 1 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A | CASP10, MCH4, ALPS2 |
| 1 | BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE | HBB |
| 1 | MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 | UMOD, HNFJ, FJHN, MCKD2, ADMCKD2 |
| 1 | LONG QT SYNDROME 3; LQT3 | SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2 |
| 1 | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF | SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2 |
| 1 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | LDLRAP1, ARH, FHCB2, FHCB1 |
| 1 | PETERS ANOMALY WITH CATARACT | PAX6, AN2, MGDA |
| 1 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | PCSK9, NARC1, HCHOLA3, FH3 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 | STRC, DFNB16 |
| 1 | HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF |
| 1 | PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY | EPHB2, EPHT3, DRT, ERK, PCBC, CAPB |
| 1 | CONE-ROD DYSTROPHY 7; CORD7 | RIMS1, RIM1, RIM, KIAA0340, CORD7 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 | TECTA, DFNA8, DFNA12, DFNB21 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 | MYH9, MHA, FTNS, DFNA17 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F | SLC35A1, CST |
| 1 | SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8 | KIAA0196, SPG8 |
| 1 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 | PRF1, HPLH2, FLH2 |
| 1 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | STX11, FHL4, HPLH4, HLH4 |
| 1 | MOVED TO 600791 | SLC26A4, PDS, DFNB4 |
| 1 | LIMB-MAMMARY SYNDROME; LMS | TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL | DHS |
| 1 | SPINOCEREBELLAR ATAXIA 10; SCA10 | ATXN10, SCA10 |
| 1 | CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE | GAD1, SCP |
| 1 | CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 | SLC25A13, CTLN2 |
| 1 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | TSHR |
| 1 | GRACILE SYNDROME | BCS1L, FLNMS, GRACILE, BJS, PTD |
| 1 | CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3 | PDCD10, TFAR15, CCM3 |
| 1 | CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2 | C7orf22, CCM2, MGC4067 |
| 1 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 | ACTN4, FSGS1, FSGS |
| 1 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO |
| 1 | HUNTINGTON DISEASE-LIKE 1; HDL1 | PRNP, PRIP |
| 1 | SCHIZOPHRENIA 5; SCZD5 | TAAR6, TRAR4, SCZD5 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C | ALG6 |
| 1 | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE | ECGF1, MNGIE |
| 1 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD | COLQ, EAD |
| 1 | SCHIZOPHRENIA 6; SCZD6 | NRG1, HGL, HRGA, ARIA |
| 1 | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM | NPR2, ANPRB, AMDM |
| 1 | MUENKE SYNDROME | FGFR3, ACH |
| 1 | RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 | SEPN1, SELN, RSMD1 |
| 1 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR |
| 1 | DYSTROPHIA MYOTONICA 2; DM2 | ZNF9, CNBP1, DM2, PROMM |
| 1 | MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | MYCN, NMYC, ODED, MODED |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B | MPI, PMI1 |
| 1 | ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID |
| 1 | HYPERLIPIDEMIA, COMBINED, 1 | USF1, HYPLIP1 |
| 1 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 | GCK, HHF3 |
| 1 | MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 | ATP1A2, FHM2, MHP2 |
| 1 | ENCEPHALOPATHY, ETHYLMALONIC | ETHE1, HSCO, D83198 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15 | POU4F3, BRN3C |
| 1 | SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION | DCLRE1C, ARTEMIS, SCIDA |
| 1 | AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 | SETX, SCAR1, AOA2, ALS4 |
| 1 | DESMOSTEROLOSIS | DHCR24, KIAA0018 |
| 1 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3 | ABCB4, PGY3, MDR3 |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II | MMP13, CLG3 |
| 1 | CONE DYSTROPHY 3; COD3 | GUCA1A, GCAP |
| 1 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18 | USH1C, DFNB18 |
| 1 | NEPHRONOPHTHISIS 2; NPHP2 | INVS, INV, NPHP2, NPH2 |
| 1 | USHER SYNDROME, TYPE IF; USH1F | PCDH15, DFNB23, USH1H |
| 1 | CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | SPEECH-LANGUAGE DISORDER 1; SPCH1 | FOXP2, SPCH1, TNRC10, CAGH44 |
| 1 | TRIMETHYLAMINURIA; TMAU | FMO3 |
| 1 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2 | PHOX2A, ARIX, CFEOM2 |
| 1 | ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC | LOR |
| 1 | ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE | KRTHB5, HB5 |
| 1 | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG | TRPM6, CHAK2 |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G | TCAP, LGMD2G, CMD1N |
| 1 | DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10 | IL2RA, IL2R, IDDM10 |
| 1 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | CACNA1S, CACNL1A3, CCHL1A3 |
| 1 | CATARACT, ZONULAR PULVERULENT 3; CZP3 | GJA3, CX46, CZP3, CAE3 |
| 1 | BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 1; BMND1 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13 | COL11A2, STL3, DFNA13 |
| 1 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS | TNFRSF6, APT1, FAS, CD95, ALPS1A |
| 1 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2 | ABCB11, BSEP, SPGP, PFIC2 |
| 1 | MOVED TO 601543 | TECTA, DFNA8, DFNA12, DFNB21 |
| 1 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 | KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| 1 | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY | PHGDH |
| 1 | EXUDATIVE VITREORETINOPATHY 4; EVR4 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | HAIR COLOR 3; HCL3 | OCA2, P, PED, D15S12, BOCA, EYCL3 |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6 | CLN6 |
| 1 | CONE-ROD DYSTROPHY 6; CORD6 | GUCY2D, GUC2D, LCA1, CORD6 |
| 1 | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1 | TLR5, TIL3, SLEB1 |
| 1 | RETINITIS PIGMENTOSA 19; RP19 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| 1 | YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME | SOX10, WS4, WS2E |
| 1 | NOVELTY SEEKING PERSONALITY TRAIT | DRD4 |
| 1 | BARTTER SYNDROME, ANTENATAL, TYPE 1 | SLC12A1, NKCC2 |
| 1 | IRIDOGONIODYSGENESIS, TYPE 1; IRID1 | FOXC1, FKHL7, FREAC3 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C | SH3TC2, KIAA1985 |
| 1 | WILMS TUMOR 5; WT5 | POU6F2, WTSL, WT5 |
| 1 | STUVE-WIEDEMANN SYNDROME | LIFR, STWS, SWS, SJS2 |
| 1 | HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD | CDH3, CDHP, PCAD, HJMD |
| 1 | BLOOD GROUP--FROESE | SLC4A1, AE1, EPB3 |
| 1 | BLOOD GROUP--SWANN SYSTEM; SW | SLC4A1, AE1, EPB3 |
| 1 | CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 | CRYBB2, CRYB2 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12; DFNA12 | TECTA, DFNA8, DFNA12, DFNB21 |
| 1 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABSD | HOXA1, HOX1F, BSAS |
| 1 | PROSTATE CANCER, HEREDITARY, 1; HPC1 | RNASEL, RNS4, PRCA1, HPC1 |
| 1 | CARDIOMYOPATHY, DILATED, 1D; CMD1D | TNNT2, CMH2, CMD1D |
| 1 | HYALURONIDASE DEFICIENCY | HYAL1 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D | GARS, SMAD1, CMT2D, HMN5 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D | NDRG1, HMSNL, CMT4D |
| 1 | NEVO SYNDROME | PLOD, PLOD1 |
| 1 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | DES, CMD1I |
| 1 | RETINITIS PIGMENTOSA 18; RP18 | HPRP3, RP18 |
| 1 | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | RUNX1, CBFA2, AML1 |
| 1 | DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 | CTLA4, IDDM12, CELIAC3 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 | MTMR2, CMT4B1 |
| 1 | CRISPONI SYNDROME | CRLF1, CISS |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9 | COCH, DFNA9 |
| 1 | MICROPHTHALMIA, SYNDROMIC 8; MCOPS8 | SNX3 |
| 1 | NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS | NF1, VRNF, WSS, NFNS |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11 | MYO7A, USH1B, DFNB2, DFNA11 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10 | EYA4, DFNA10, CMD1J |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F | SGCD, SGD, LGMD2F, CMD1L |
| 1 | CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT | CRYGD, CRYG4, CCP |
| 1 | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1 | CAPN10 |
| 1 | ICHTHYOSIS, LAMELLAR, 2; LI2 | ABCA12, ICR2B, LI2 |
| 1 | CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY | ATCAY, CLAC, KIAA1872 |
| 1 | NAXOS DISEASE | JUP, DP3, PDGB, ARVD12 |
| 1 | MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 | STRA6, MCOPS9 |
| 1 | CARDIOMYOPATHY, DILATED, 1E; CMD1E | SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2 |
| 1 | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI | MFN2, KIAA0214, CMT2A2 |
| 1 | BRUGADA SYNDROME | SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D | ALG3, NOT56L, CDGS4 |
| 1 | SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 | MAPT, MTBT1, DDPAC, MSTD |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C | LITAF, CMT1C |
| 1 | DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8 | TMPRSS3, ECHOS1, DFNB8, DFNB10 |
| 1 | DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 | OTOF, DFNB9, NSRD9 |
| 1 | USHER SYNDROME, TYPE ID; USH1D | CDH23, USH1D, USH1H |
| 1 | TIMOTHY SYNDROME; TS | CACNA1C, CACNL1A1, CCHL1A1, TS |
| 1 | BRODY MYOPATHY | ATP2A1, SERCA1 |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE | KRT14 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2 | RYR2, VTSIP, ARVD2, ARVC2 |
| 1 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1 | PDCN, NPHS2, SRN1 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5 | DFNA5 |
| 1 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7 | TMC1, DFNB7, DFNB11, DFNA36 |
| 1 | ACHONDROGENESIS, TYPE IB; ACG1B | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6; DFNB6 | TMIE, DFNB6 |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 | COL9A3, EDM3, IDD |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6 | WFS1, WFRS, WFS, DFNA6 |
| 1 | PROPROTEIN CONVERTASE 1 DEFICIENCY | PCSK1, NEC1, PC1, PC3 |
| 1 | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | ANK2, LQT4 |
| 1 | HYPERFERRITINEMIA-CATARACT SYNDROME | FTL |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B | RAB7, CMT2B, PSN |
| 1 | CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS | CRYBA1, CRYB1 |
| 1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE | PRKAG2, WPWS, CMH6 |
| 1 | RETINITIS PIGMENTOSA 17; RP17 | CA4, RP17 |
| 1 | SCHIZOPHRENIA 4; SCZD4 | PRODH, PRODH2, SCZD4 |
| 1 | GALLBLADDER DISEASE 1; GBD1 | ABCB4, PGY3, MDR3 |
| 1 | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 | CHMP2B, DMT1, VPS2B |
| 1 | ENLARGED VESTIBULAR AQUEDUCT; EVA | FOXI1, FKHL10, FREAC6 |
| 1 | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2 | GNE, GLCNE, IBM2, DMRV, NM |
| 1 | D-2-@HYDROXYGLUTARIC ACIDURIA | D2HGD |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4 | MYH14, KIAA2034, DFNA4 |
| 1 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 |
| 1 | NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPE | KRT10 |
| 1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1 | HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7 |
| 1 | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 | CHRNA4, ENFL1 |
| 1 | EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE | LGI1, EPT, ETL1 |
| 1 | ABCD SYNDROME | EDNRB, HSCR2, ABCDS |
| 1 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3 | TCF1, HNF1A, MODY3 |
| 1 | MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA | PUS1, MLASA |
| 1 | OSLER-RENDU-WEBER SYNDROME 2; ORW2 | ACVRL1, ACVRLK1, ALK1, HHT2 |
| 1 | SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 | NIPA1, SPG6 |
| 1 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF |
| 1 | DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5 | SUMO4, IDDM5 |
| 1 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3 | MYO15A, DFNB3 |
| 1 | SPINOCEREBELLAR ATAXIA 5; SCA5 | SPTBN2, SCA5 |
| 1 | MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS | MYH9, MHA, FTNS, DFNA17 |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 | COL9A2, EDM2 |
| 1 | DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2 | KIAA0319, DYX2, DYLX2, DLX2 |
| 1 | VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM | TEK, TIE2, VMCM |
| 1 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 | EDNRB, HSCR2, ABCDS |
| 1 | SACRAL DEFECT WITH ANTERIOR MENINGOCELE | VANGL1, STBM2 |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 | CLN8, EPMR |
| 1 | RETINITIS PIGMENTOSA 11; RP11 | PRPF31, PRP31 |
| 1 | RETINITIS PIGMENTOSA 14; RP14 | TULP1, RP14 |
| 1 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 | AGPS, ADHAPS |
| 1 | WARBURG MICRO SYNDROME; WARBM | RAB3GAP1, WARBM1, P130 |
| 1 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 | PRKN, PARK2, PDJ, LPRS2 |
| 1 | STARGARDT DISEASE 3; STGD3 | ELOVL4, ADMD, STGD2, STGD3 |
| 1 | RETINITIS PIGMENTOSA 12; RP12 | CRB1, RP12, LCA8 |
| 1 | 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE | CYP2R1 |
| 1 | FATAL FAMILIAL INSOMNIA; FFI | PRNP, PRIP |
| 1 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2 | MYO7A, USH1B, DFNB2, DFNA11 |
| 1 | RETINITIS PIGMENTOSA 13; RP13 | PRPF8, PRPC8, RP13 |
| 1 | EIKEN SKELETAL DYSPLASIA | PTHR1, PTHR |
| 1 | DEAFNESS, AMINOGLYCOSIDE-INDUCED | TRMU, MTO2, TRNT1 |
| 1 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | USP9Y, DFFRY |
| 1 | SERTOLI CELL-ONLY SYNDROME, Y-LINKED | ZNF148, ZFP148 |
| 1 | | COL1A2 |
| 1 | VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED | FAAP95, FAAP90, FLJ34064, FANCB |
| 1 | DYSTONIA 3, TORSION, X-LINKED; DYT3 | TAF1, TAF2A, CCG1, BA2R, DYT3 |
| 1 | THROMBOCYTOPENIA 1; THC1 | WAS, IMD2, THC |
| 1 | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT | TRAPPC2, SEDL, SEDT |
| 1 | SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 | AR, DHTR, TFM, SBMA, KD, SMAX1 |
| 1 | SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 | PLP1, PMD |
| 1 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GPC3, SDYS, SGBS1 |
| 1 | COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX | IL2RG, SCIDX1, SCIDX, IMD4 |
| 1 | PYRUVATE DECARBOXYLASE DEFICIENCY | PDHA1, PHE1A |
| 1 | PELIZAEUS-MERZBACHER DISEASE; PMD | PLP1, PMD |
| 1 | PROPERDIN DEFICIENCY, X-LINKED | PFC, PFD |
| 1 | OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 | FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS |
| 1 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO | OTC |
| 1 | OROFACIODIGITAL SYNDROME I; OFD1 | OFD1, CXorf5, SGBS2 |
| 1 | OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA | TIMM8A, DFN1, DDP, MTS, DDP1 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 | PRPS1, CMTX5 |
| 1 | NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 | FRMD7 |
| 1 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A | CSNB1, NYX |
| 1 | NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 |
| 1 | N SYNDROME; NSX | POLA |
| 1 | MYOTUBULAR MYOPATHY 1; MTM1 | MTM1, MTMX |
| 1 | EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD | EMD, EDMD, STA |
| 1 | MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 | HCCS, MCOPS7 |
| 1 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | SMS, SRS, MRSR |
| 1 | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 | ATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1 |
| 1 | MENTAL RETARDATION, X-LINKED 9; MRX9 | FTSJ1, JM23, SPB1, MRX44, MRX9 |
| 1 | MENTAL RETARDATION, X-LINKED 3; MRX3 | GDI1, RABGD1A, MRX41, MRX48 |
| 1 | PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43 |
| 1 | RENPENNING SYNDROME 1; RENS1 | PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8 |
| 1 | MENKES DISEASE | ATP7A, MNK, MK, OHS |
| 1 | MELNICK-NEEDLES SYNDROME; MNS | FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS |
| 1 | LOWE OCULOCEREBRORENAL SYNDROME; OCRL | OCRL, LOCR, OCRL1, NPHL2 |
| 1 | PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 |
| 1 | LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY | COL4A6 |
| 1 | LEIGH SYNDROME, X-LINKED | PDHA1, PHE1A |
| 1 | KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD | SAT1, SSAT, KFSD |
| 1 | INCONTINENTIA PIGMENTI; IP | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 | SH2D1A, LYP, IMD5, XLP, XLPD |
| 1 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 | TNFSF5, CD40LG, HIGM1, IGM |
| 1 | CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB | NSDHL |
| 1 | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT | PHEX, HYP, HPDR1 |
| 1 | HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED | BTK, AGMX1, IMD1, XLA, AT |
| 1 | HYPERGLYCEROLEMIA | GK |
| 1 | HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS | L1CAM, CAML1, HSAS1 |
| 1 | HETEROTAXY, VISCERAL, X-LINKED | ZIC3, HTX1, HTX |
| 1 | GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD | CYBB, CGD |
| 1 | FOCAL DERMAL HYPOPLASIA; FDH | PORCN, PORC, DHOF, FODH |
| 1 | FACIOGENITAL DYSPLASIA | FGD1, FGDY, AAS |
| 1 | EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2 | NDP, ND |
| 1 | ECTODERMAL DYSPLASIA 1; ED1 | ED1, EDA, HED |
| 1 | DYSKERATOSIS CONGENITA, X-LINKED; DKC | DKC1, DKC |
| 1 | DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | AVPR2, DIR, DI1, ADHR |
| 1 | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; | FOXP3, IPEX, AIID, XPID, PIDX |
| 1 | MOHR-TRANEBJAERG SYNDROME; MTS | TIMM8A, DFN1, DDP, MTS, DDP1 |
| 1 | DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION | POU3F4, DFN3 |
| 1 | CUTIS LAXA, X-LINKED | ATP7A, MNK, MK, OHS |
| 1 | OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 | FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS |
| 1 | CRANIOFRONTONASAL SYNDROME; CFNS | EFNB1, EPLG2, CFNS, CFND |
| 1 | CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED | L1CAM, CAML1, HSAS1 |
| 1 | CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 | RPGR, RP3, CRD, RP15, COD1 |
| 1 | COFFIN-LOWRY SYNDROME; CLS | RPS6KA3, RSK2, MRX19 |
| 1 | CLEFT PALATE, X-LINKED; CPX | TBX22, CPX |
| 1 | MASA SYNDROME | L1CAM, CAML1, HSAS1 |
| 1 | CHOROIDEREMIA; CHM | CHM, TCD |
| 1 | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 | EBP, CDPX2, CPXD, CPX |
| 1 | CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 | ARSE, CDPX1, CDPXR |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1 | GJB1, CX32, CMTX1 |
| 1 | NANCE-HORAN SYNDROME; NHS | NHS |
| 1 | BARTH SYNDROME; BTHS | TAZ, EFE2, BTHS, CMD3A, LVNCX |
| 1 | CARDIOMYOPATHY, DILATED, 3B; CMD3B | DMD, BMD, CMD3B |
| 1 | BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS | PHF6, BFLS |
| 1 | ARTS SYNDROME; ARTS | PRPS1, CMTX5 |
| 1 | FABRY DISEASE | GLA |
| 1 | ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT | ABCB7, ABC7, ASAT |
| 1 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 | AMELX, AMG, AIH1, AMGX |
| 1 | ALPORT SYNDROME, X-LINKED; ATS | COL4A5, ATS, ASLN |
| 1 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; | ATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1 |
| 1 | WISKOTT-ALDRICH SYNDROME; WAS | WAS, IMD2, THC |
| 1 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | UPF3B, RENT3B, MRXS14 |
| 1 | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | PRPS1, CMTX5 |
| 1 | MENTAL RETARDATION, X-LINKED 93; MRX93 | BRWD3, MRX93 |
| 1 | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY | PGK1, PGKA |
| 1 | SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2 | SRPX2, SRPUL, RESDX |
| 1 | MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIA | CUL4B, MRXSC, MRXHF2, SFM2 |
| 1 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1 | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 | BIRC4, API3, XIAP, XLP2 |
| 1 | MENTAL RETARDATION, X-LINKED 59; MRX59 | AP1S2, MRX59 |
| 1 | FRAGILE X MENTAL RETARDATION SYNDROME | FMR1, FRAXA |
| 1 | FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS | FMR1, FRAXA |
| 1 | TN SYNDROME | C1GALT1C1, COSMC, C1GALT2 |
| 1 | HYPEREKPLEXIA AND EPILEPSY | ARHGEF9, PEM2, KIAA0424 |
| 1 | HYPODONTIA, X-LINKED | ED1, EDA, HED |
| 1 | PREMATURE OVARIAN FAILURE 2B; POF2B | FLJ22792 |
| 1 | ALAND ISLAND EYE DISEASE; AIED | CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 |
| 1 | CORNELIA DE LANGE SYNDROME 2; CDLS2 | DXS423E, SMC1, CDLS2 |
| 1 | IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | CHROMOSOME Xp11.3 DELETION SYNDROME | RP2 |
| 1 | MENTAL RETARDATION, X-LINKED 91; MRX91 | ZDHHC15, MRX91 |
| 1 | MUSCLE GLYCOGENOSIS, X-LINKED | PHKA1 |
| 1 | MENTAL RETARDATION, X-LINKED 30; MRX30 | PAK3, MRX30, MRX47 |
| 1 | HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 |
| 1 | NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD | AVPR2, DIR, DI1, ADHR |
| 1 | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS |
| 1 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED | SMCX, MRXSJ, DXS1272E, XE169, JARID1C |
| 1 | ALLAN-HERNDON-DUDLEY SYNDROME; AHDS | SLC16A2, DXS128, XPCT |
| 1 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | FAAP95, FAAP90, FLJ34064, FANCB |
| 1 | PREMATURE OVARIAN FAILURE 2A; POF2A | DIAPH2, DIA, POF2 |
| 1 | OVARIAN DYSGENESIS 2; ODG2 | BMP15, GDF9B, ODG2, POF4 |
| 1 | MENTAL RETARDATION, X-LINKED 45; MRX45 | ZNF81, MRX45 |
| 1 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 | NLGN4, KIAA1260, AUTSX2, ASPGX2 |
| 1 | AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 | NLGN4, KIAA1260, AUTSX2, ASPGX2 |
| 1 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 | NLGN3, ASPGX1, AUTSX1 |
| 1 | EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR | SYN1 |
| 1 | MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE | OPHN1, MRX60 |
| 1 | CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 | CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 |
| 1 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, | IGBP1 |
| 1 | RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS | RPGR, RP3, CRD, RP15, COD1 |
| 1 | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS | ATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1 |
| 1 | HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY | HADH2, ERAB |
| 1 | MENTAL RETARDATION, X-LINKED 46; MRX46 | ARHGEF6, MRX46, COOL2 |
| 1 | STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME | SHROOM4, KIAA1202, SDSX |
| 1 | EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43 |
| 1 | AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 | NLGN3, ASPGX1, AUTSX1 |
| 1 | MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE | ATP6AP2, ATP6M8-9, XMRE, MRXE |
| 1 | MENTAL RETARDATION, X-LINKED 54; MRX54 | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43 |
| 1 | SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 | IL2RG, SCIDX1, SCIDX, IMD4 |
| 1 | RETINITIS PIGMENTOSA 3; RP3 | RPGR, RP3, CRD, RP15, COD1 |
| 1 | MENTAL RETARDATION, X-LINKED 63; MRX63 | FACL4, ACS4, MRX63 |
| 1 | MUSCULAR DYSTROPHY, BECKER TYPE; BMD | DMD, BMD, CMD3B |
| 1 | DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA | GATA1, GF1, ERYF1, NFE1 |
| 1 | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE | CUL4B, MRXSC, MRXHF2, SFM2 |
| 1 | CREATINE DEFICIENCY SYNDROME, X-LINKED | SLC6A8, CRTR |
| 1 | GOUT, HPRT-RELATED | HPRT1, HPRT |
| 1 | LESCH-NYHAN SYNDROME; LNS | HPRT1, HPRT |
| 1 | OBESITY, SUSCEPTIBILITY TO, X-LINKED | SLC6A14, OBX |
| 1 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN | WAS, IMD2, THC |
| 1 | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME | PHF8, ZNF422, KIAA1111, MRXSSD |
| 1 | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | DANON DISEASE | LAMP2, LAMPB |
| 1 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | HOYERAAL-HREIDARSSON SYNDROME; HHS | DKC1, DKC |
| 1 | LISSENCEPHALY, X-LINKED, 2; LISX2 | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43 |
| 1 | MENTAL RETARDATION, X-LINKED 58; MRX58 | TM4SF2, MXS1, A15, MRX58 |
| 1 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 | OFD1, CXorf5, SGBS2 |
| 1 | ADRENAL HYPOPLASIA, CONGENITAL; AHC | DAX1, AHC, AHX, NROB1 |
| 1 | AMME COMPLEX | AMMECR1 |
| 1 | NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; | TAZ, EFE2, BTHS, CMD3A, LVNCX |
| 1 | MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 | BCOR, KIAA1575, MCOPS2, MAA2, ANOP2 |
| 1 | MENTAL RETARDATION, X-LINKED 21; MRX21 | IL1RAPL1, IL1R8, MRX21, MRX34 |
| 1 | MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY; | SOX3, MRGH |
| 1 | ADRENOLEUKODYSTROPHY; ALD | ABCD1, ALD, AMN |
| 1 | X INACTIVATION, FAMILIAL SKEWED, 1; SXI1 | XIC, XCE, XIST, SXI1 |
| 1 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A | CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 |
| 1 | CARDIOMYOPATHY, DILATED, 3A; CMD3A | TAZ, EFE2, BTHS, CMD3A, LVNCX |
| 1 | ANDROGEN INSENSITIVITY SYNDROME; AIS | AR, DHTR, TFM, SBMA, KD, SMAX1 |
| 1 | LISSENCEPHALY, X-LINKED, 1; LISX1 | DCX, DBCN, LISX |
| 1 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT | FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS |
| 1 | RETINITIS PIGMENTOSA 15; RP15 | RPGR, RP3, CRD, RP15, COD1 |
| 1 | DOSAGE-SENSITIVE SEX REVERSAL; DSS | DAX1, AHC, AHX, NROB1 |
| 1 | CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43 |
| 1 | OPITZ SYNDROME | MID1, OGS1, BBBG1, FXY, OSX |
| 1 | DE SANCTIS-CACCHIONE SYNDROME | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | ERCC5, XPG, COFS3 |
| 1 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF | ERCC4, XPF |
| 1 | XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | POLH, XPV |
| 1 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | DDB2 |
| 1 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | ERCC2, EM9, XPD, COFS2 |
| 1 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | XPA, XPAC |
| 1 | RUFOUS OCULOCUTANEOUS ALBINISM; ROCA | TYRP1, CAS2, GP75 |
| 1 | XANTHINURIA, TYPE I | XDH |
| 1 | WINCHESTER SYNDROME | MMP2, CLG4A, MONA |
| 1 | WILSON DISEASE | ATP7B, WND |
| 1 | WERNICKE-KORSAKOFF SYNDROME | TKT |
| 1 | WEISSENBACHER-ZWEYMULLER SYNDROME; WZS | COL11A2, STL3, DFNA13 |
| 1 | WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE | ADAMTS10, WMS |
| 1 | WEAVER SYNDROME | NSD1, ARA267, STO |
| 1 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED | TTPA, TTP1, AVED |
| 1 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | GGCX |
| 1 | VITAMIN D-DEPENDENT RICKETS, TYPE II | VDR |
| 1 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE | MMACHC |
| 1 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1 | DLL3, SCDO1 |
| 1 | VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD | CFTR, ABCC7, CF, MRP7 |
| 1 | ROKITANSKY-KUSTER-HAUSER SYNDROME | WNT4 |
| 1 | VACTERL ASSOCIATION WITH HYDROCEPHALUS | PTEN, MMAC1 |
| 1 | USHER SYNDROME, TYPE IC; USH1C | USH1C, DFNB18 |
| 1 | USHER SYNDROME, TYPE III; USH3 | USH3A, USH3 |
| 1 | USHER SYNDROME, TYPE IIA; USH2A | USH2A, RP39 |
| 1 | USHER SYNDROME, TYPE I | MYO7A, USH1B, DFNB2, DFNA11 |
| 1 | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY | WNT7A |
| 1 | TYROSINEMIA, TYPE III | HPD |
| 1 | TWINNING, DIZYGOTIC | FSHR, ODG1 |
| 1 | SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 | SPG20 |
| 1 | CHANARIN-DORFMAN SYNDROME; CDS | ABHD5, CGI58, IECN2, NCIE2 |
| 1 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 | TSHR |
| 1 | PENDRED SYNDROME; PDS | SLC26A4, PDS, DFNB4 |
| 1 | THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A | TPO, TPX |
| 1 | THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 | SLC5A5, NIS |
| 1 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH | THRB, ERBA2, THR1 |
| 1 | THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP | ADAMTS13, VWFCP, TTP |
| 1 | THROMBASTHENIA OF GLANZMANN AND NAEGELI | ITGA2B, GP2B, CD41B |
| 1 | THREE M SYNDROME | CUL7 |
| 1 | TETRA-AMELIA, AUTOSOMAL RECESSIVE | WNT3, INT4 |
| 1 | TAY-SACHS DISEASE; TSD | HEXA, TSD |
| 1 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | FLNB, SCT, AOI, LRS1 |
| 1 | COLD-INDUCED SWEATING SYNDROME 1; CISS1 | CRLF1, CISS |
| 1 | SULFOCYSTEINURIA | SUOX |
| 1 | MULTIPLE SULFATASE DEFICIENCY; MSD | SUMF1, FGE |
| 1 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY | ALDH5A1, SSADH |
| 1 | STRIATONIGRAL DEGENERATION, INFANTILE; SNDI | NUP62, SNDI, IBSN |
| 1 | CANAVAN DISEASE | ASPA |
| 1 | SPONDYLOPERIPHERAL DYSPLASIA | COL2A1 |
| 1 | SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| 1 | SPHEROCYTOSIS, AUTOSOMAL RECESSIVE | SPTA1 |
| 1 | AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS | SYCP3, SCP3, COR1 |
| 1 | SPASTIC PARAPLEGIA 17; SPG17 | BSCL2, SPG17, HMN5 |
| 1 | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS | SACS, ARSACS |
| 1 | SMITH-LEMLI-OPITZ SYNDROME; SLOS | DHCR7, SLOS |
| 1 | SJOGREN-LARSSON SYNDROME; SLS | ALDH3A2, ALDH10, SLS, FALDH |
| 1 | SITUS INVERSUS VISCERUM | DNAH11, DNAHC11 |
| 1 | SIALURIA | GNE, GLCNE, IBM2, DMRV, NM |
| 1 | INFANTILE SIALIC ACID STORAGE DISORDER | SLC17A5, SIASD, SLD |
| 1 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 | BSCL2, SPG17, HMN5 |
| 1 | SEA-BLUE HISTIOCYTE DISEASE | APOE, AD2 |
| 1 | SCLEROSTEOSIS; SOST | SOST, VBCH |
| 1 | SCHIZENCEPHALY | EMX2 |
| 1 | SC PHOCOMELIA SYNDROME | ESCO2 |
| 1 | SARCOSINEMIA | SARDH, SARD, SAR |
| 1 | SANDHOFF DISEASE | HEXB |
| 1 | SACCHAROPINURIA | AASS |
| 1 | ROTHMUND-THOMSON SYNDROME; RTS | RECQL4, RTS, RECQ4 |
| 1 | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE | ROR2, BDB1, BDB, NTRKR2 |
| 1 | ROBERTS SYNDROME; RBS | ESCO2 |
| 1 | RHABDOMYOSARCOMA 1; RMS1 | SLC22A1L, BWSCR1A, IMPT1 |
| 1 | RH-NULL, REGULATOR TYPE; RHN | RHAG, RH50A |
| 1 | ENHANCED S-CONE SYNDROME; ESCS | NR2E3, PNR, ESCS |
| 1 | KNOBLOCH SYNDROME; KNO | COL18A1, KNO |
| 1 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS | ATP6B1, VPP3 |
| 1 | SENIOR-LOKEN SYNDROME 1; SLSN1 | NPHP1, NPH1, SLSN1, JBTS4 |
| 1 | RAPADILINO SYNDROME | RECQL4, RTS, RECQ4 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C | SLC35C1, FUCT1 |
| 1 | PYRUVATE KINASE DEFICIENCY OF RED CELLS | PKLR, PK1 |
| 1 | PYRUVATE CARBOXYLASE DEFICIENCY | PC |
| 1 | PYROPOIKILOCYTOSIS, HEREDITARY; HPP | SPTA1 |
| 1 | GLUTATHIONE SYNTHETASE DEFICIENCY | GSS, GSHS |
| 1 | URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA | NT5C3, UMPH1, PSN1 |
| 1 | PYCNODYSOSTOSIS | CTSK |
| 1 | PULMONARY VENOOCCLUSIVE DISEASE; PVOD | BMPR2, PPH1 |
| 1 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1 | SFTPB, SFTB3, SMDP1 |
| 1 | PULMONARY ALVEOLAR MICROLITHIASIS | SLC34A2 |
| 1 | MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT | CHRNG, ACHRG |
| 1 | VITAMIN D-DEPENDENT RICKETS, TYPE I | CYP27B1, VDD1, PDDR |
| 1 | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH | SRD5A2 |
| 1 | PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY | ACOX1, ACOX, SCOX |
| 1 | 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY | HSD17B3, EDH17B3 |
| 1 | PROGESTERONE RESISTANCE | PGR |
| 1 | HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA | PCBD, DCOH |
| 1 | GITELMAN SYNDROME | SLC12A3, NCCT, TSC |
| 1 | PORPHYRIA, CONGENITAL ERYTHROPOIETIC | UROS |
| 1 | ERYTHROCYTOSIS, FAMILIAL, 2 | VHL |
| 1 | POLYCYTHEMIA VERA | JAK2 |
| 1 | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD | FCYT, PKHD1, ARPKD |
| 1 | PITUITARY DWARFISM IV | GH1, GHN |
| 1 | PITUITARY DWARFISM III | LHX3 |
| 1 | GROWTH HORMONE INSENSITIVITY SYNDROME | GHR |
| 1 | PITUITARY DWARFISM I | GH1, GHN |
| 1 | ACHROMATOPSIA 3; ACHM3 | CNGB3, ACHM3 |
| 1 | PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC | INSR, HHF5 |
| 1 | BJORNSTAD SYNDROME; BJS | BCS1L, FLNMS, GRACILE, BJS, PTD |
| 1 | PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE | PHKB |
| 1 | PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS | EPX |
| 1 | INTRINSIC FACTOR DEFICIENCY; IFD | GIF, IF |
| 1 | HYPER-IgD SYNDROME; HIDS | MVK, MVLK |
| 1 | PARKINSON-DEMENTIA SYNDROME | MAPT, MTBT1, DDPAC, MSTD |
| 1 | SHWACHMAN-DIAMOND SYNDROME; SDS | SBDS, SDS |
| 1 | PANCREATIC AGENESIS, CONGENITAL | IPF1 |
| 1 | HYPEROXALURIA, PRIMARY, TYPE II | GRHPR, GLXR |
| 1 | HYPEROXALURIA, PRIMARY, TYPE I | AGXT, SPAT |
| 1 | RAINE SYNDROME; RNS | FAM20C, DMP4 |
| 1 | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 | CA2 |
| 1 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 | OSTM1, GL, OPTB5 |
| 1 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 | TNFSF11, OPGL, TRANCE, OPTB2 |
| 1 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 | TCIRG1, TIRC7, OC116, OPTB1 |
| 1 | NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO | GP1BA |
| 1 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE III | OPA3, MGA3 |
| 1 | ODONTOONYCHODERMAL DYSPLASIA; OODD | WNT10A |
| 1 | LISSENCEPHALY 2; LIS2 | RELN, RL |
| 1 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B | GRM6, MGLUR6, CSNB1B |
| 1 | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1, NPC |
| 1 | NIEMANN-PICK DISEASE, TYPE A | SMPD1, NPD |
| 1 | GIANT AXONAL NEUROPATHY 1; GAN1 | GAN, GAN1 |
| 1 | NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL | CCT5, KIAA0098, CCTE |
| 1 | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA | NTRK1, TRKA, MTC |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 | CLN5 |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 | PPT1, CLN1 |
| 1 | NEUROAXONAL DYSTROPHY, INFANTILE; INAD1 | PLA2G6, IPLA2, INAD1 |
| 1 | NEURAMINIDASE DEFICIENCY | NEU1, NEU, SIAL1 |
| 1 | NETHERTON SYNDROME; NETH | SPINK5, LEKTI |
| 1 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 | ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| 1 | NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS | WT1 |
| 1 | NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 | NPHS1, NPHN |
| 1 | NEPHRONOPHTHISIS 1; NPHP1 | NPHP1, NPH1, SLSN1, JBTS4 |
| 1 | ATELOSTEOGENESIS, TYPE II; AOII | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | NEMALINE MYOPATHY 2; NEM2 | NEB, NEM2 |
| 1 | MYXOMA, INTRACARDIAC | PRKAR1A, TSE1, CNC1, CAR, PPNAD1 |
| 1 | SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 | HSPG2, PLC, SJS, SJA, SJS1 |
| 1 | MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE | CLCN1 |
| 1 | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD | ACTA1, ASMA, NEM3, NEM1, CFTD1 |
| 1 | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE | BIN1, AMPHL |
| 1 | CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY | CPT1A |
| 1 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | CPT2 |
| 1 | MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | CSTB, STFB, EPM1 |
| 1 | MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1 | EFHC1, FLJ10466, EJM1 |
| 1 | MYELOPEROXIDASE DEFICIENCY | MPO |
| 1 | MYELOFIBROSIS, FAMILIAL | JAK2 |
| 1 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA | CHAT, CMS1A2 |
| 1 | MIYOSHI MYOPATHY; MM | DYSF, LGMD2B |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H | TRIM32, HT2A, LGMD2H, BBS11 |
| 1 | FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD | FKTN, FCMD |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C | SGCG, LGMD2C, DMDA1, SCG3 |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B | DYSF, LGMD2B |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A | CAPN3, CANP3 |
| 1 | SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| 1 | SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| 1 | SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| 1 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | CHRNG, ACHRG |
| 1 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HLCS, HCS |
| 1 | BIOTINIDASE DEFICIENCY | BTD |
| 1 | MULIBREY NANISM | TRIM37, MUL, KIAA0898 |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE VII | GUSB, MPS7 |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE VI | ARSB, MPS6 |
| 1 | MORQUIO SYNDROME B | GLB1 |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIID | GNS, G6S |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIIC | HGSNAT, TMEM76, MPS3C |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | NAGLU |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIIA | SGSH, MPS3A, SFMD |
| 1 | MUCOLIPIDOSIS IV | MCOLN1, ML4 |
| 1 | MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | GNPTAG |
| 1 | MUCOLIPIDOSIS IIIA | GNPTAB, GNPTA |
| 1 | MUCOLIPIDOSIS II | GNPTAB, GNPTA |
| 1 | MITOCHONDRIAL COMPLEX II DEFICIENCY | SDHA, SDH2, SDHF |
| 1 | NIJMEGEN BREAKAGE SYNDROME | NBS1, NBS |
| 1 | METHYLMALONIC ACIDURIA, cblB TYPE | MMAB |
| 1 | METHYLMALONIC ACIDURIA, cblA TYPE | MMAA |
| 1 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY | MUT, MCM |
| 1 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I | AUH |
| 1 | METHYLCOBALAMIN DEFICIENCY, cblG TYPE | MTR |
| 1 | BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF | HIBCH |
| 1 | METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS | RMRP, RMRPR, CHH |
| 1 | CARTILAGE-HAIR HYPOPLASIA; CHH | RMRP, RMRPR, CHH |
| 1 | METACHROMATIC LEUKODYSTROPHY | ARSA |
| 1 | METACHROMATIC LEUKODYSTROPHY DUE TO DEFICIENCY OF CEREBROSIDE SULFATASE | PSAP, SAP1 |
| 1 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1 | PRSS12, BSSP3, MRT1 |
| 1 | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA | SLC19A2, THTR1 |
| 1 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME | CHRNA3 |
| 1 | FAMILIAL MEDITERRANEAN FEVER; FMF | MEFV, MEF, FMF |
| 1 | MECKEL SYNDROME, TYPE 1; MKS1 | MKS1, MKS |
| 1 | MAST SYNDROME | ACP33, MAST, SPG21 |
| 1 | MARINESCO-SJOGREN SYNDROME; MSS | SIL1, BAP, MSS |
| 1 | MANNOSIDOSIS, BETA A, LYSOSOMAL | MANBA, MANB1 |
| 1 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL | MAN2B1, MANB |
| 1 | MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | MALONYL-CoA DECARBOXYLASE DEFICIENCY | MLYCD, MCD |
| 1 | MAL DE MELEDA | SLURP1, MDM |
| 1 | HYPOMAGNESEMIA 3, PRIMARY; HOMG3 | CLDN16, PCLN1, HOMG3 |
| 1 | HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT | CLDN19 |
| 1 | MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS | YWHAE, MDCR, MDS |
| 1 | LIPOID PROTEINOSIS OF URBACH AND WIETHE | ECM1 |
| 1 | CHYLOMICRON RETENTION DISEASE; CMRD | SARA2, SAR1B, CMRD |
| 1 | LEPROSY, SUSCEPTIBILITY TO | TLR2, TIL4 |
| 1 | DONOHUE SYNDROME | INSR, HHF5 |
| 1 | LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY | LCAT |
| 1 | LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS | LAMA3, LOCS |
| 1 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | STAT5B |
| 1 | SPECIFIC GRANULE DEFICIENCY; SGD | CEBPE, CRP1 |
| 1 | LACTIC ACIDOSIS, FATAL INFANTILE | SUCLG1 |
| 1 | PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY | PDX1 |
| 1 | ERYTHROCYTE LACTATE TRANSPORTER DEFECT | SLC16A1, MCT1 |
| 1 | KRABBE DISEASE | GALC |
| 1 | KEUTEL SYNDROME | MGP, NTI |
| 1 | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY | OXCT1, OXCT, SCOT |
| 1 | HAIM-MUNK SYNDROME; HMS | CTSC, CPPI, PALS, PLS, HMS, JPD |
| 1 | PAPILLON-LEFEVRE SYNDROME; PALS | CTSC, CPPI, PALS, PLS, HMS, JPD |
| 1 | KENNY-CAFFEY SYNDROME, TYPE 1; KCS | TBCE, KCS, KCS1, HRD |
| 1 | KALLMANN SYNDROME 3; KAL3 | PROKR2, PKR2, GPR73L1, KAL3 |
| 1 | JOHANSON-BLIZZARD SYNDROME; JBS | UBR1, JBS |
| 1 | ISOVALERIC ACIDEMIA; IVA | IVD |
| 1 | CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1 | ATP8B1, FIC1, BRIC, PFIC1 |
| 1 | MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA | STK13, AIE2 |
| 1 | INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE | SCN9A, NENA, PN1 |
| 1 | IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE | SMARCAL1, HARP, SIOD |
| 1 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | DNMT3B, ICF |
| 1 | PRIMARY CILIARY DYSKINESIA; PCD | DNAI1, CILD1, ICS, PCD |
| 1 | ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE | ABCA12, ICR2B, LI2 |
| 1 | ICHTHYOSIS, LAMELLAR, 1; LI1 | TGM1, ICR2, LI1 |
| 1 | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE | FOXE1, FKHL15, TITF2, TTF2 |
| 1 | HYPOPROTEINEMIA, HYPERCATABOLIC | B2M |
| 1 | HYPOPLASTIC LEFT HEART SYNDROME | GJA1, CX43, ODDD, SDTY3, ODOD |
| 1 | HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH | SLC34A3, NPTIIC, HHRH |
| 1 | HYPOPHOSPHATASIA, CHILDHOOD | ALPL, HOPS, TNSALP |
| 1 | HYPOPHOSPHATASIA, INFANTILE | ALPL, HOPS, TNSALP |
| 1 | HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD | TBCE, KCS, KCS1, HRD |
| 1 | BARTTER SYNDROME, ANTENATAL, TYPE 2 | KCNJ1, ROMK1 |
| 1 | HYPOGLYCEMIA, LEUCINE-INDUCED; LIH | ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| 1 | GLYCOGEN STORAGE DISEASE 0, LIVER | GYS2 |
| 1 | COMMON VARIABLE IMMUNODEFICIENCY; CVID | TNFRSF13B, TACI, CVID |
| 1 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1 | AIRE, APECED |
| 1 | HYPERPROLINEMIA, TYPE II | ALDH4A1, ALDH4, P5CDH |
| 1 | HYPERPROLINEMIA, TYPE I | PRODH, PRODH2, SCZD4 |
| 1 | HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT | CASR, HHC1, PCAR1, FIH |
| 1 | HYPEROSTOSIS CORTICALIS GENERALISATA | SOST, VBCH |
| 1 | PAGET DISEASE, JUVENILE | TNFRSF11B, OPG, OCIF |
| 1 | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME | SLC25A15, ORNT1, HHH |
| 1 | HYPERLYSINEMIA | AASS |
| 1 | HYPERLIPOPROTEINEMIA, TYPE I | LPL, LIPD, HDLCQ11 |
| 1 | HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL | UGT1A1, UGT1, GNT1 |
| 1 | DUBIN-JOHNSON SYNDROME; DJS | ABCC2, CMOAT |
| 1 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | NAGS |
| 1 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO | CPS1 |
| 1 | L-2-HYDROXYGLUTARIC ACIDURIA | L2HGDH, C14orf160 |
| 1 | MCKUSICK-KAUFMAN SYNDROME; MKKS | MKKS, HMCS, KMS, MKS, BBS6 |
| 1 | HYDROLETHALUS SYNDROME 1 | HYLS1, FLJ32915 |
| 1 | HYALINOSIS, INFANTILE SYSTEMIC | ANTXR2, CMG2, JHF, ISH |
| 1 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, | MTRR |
| 1 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE | MTHFR |
| 1 | HOLOPROSENCEPHALY | HPE6 |
| 1 | HISTIDINEMIA | HAL, HSTD |
| 1 | MOWAT-WILSON SYNDROME | ZEB2, ZFHX1B, SMADIP1, SIP1 |
| 1 | HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI | SP110, IFI41, IFI75, VODI |
| 1 | HEMOCHROMATOSIS; HFE | BMP2, BMP2A |
| 1 | HARTNUP DISORDER | SLC6A19, HND |
| 1 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 | PANK2, NBIA1, PKAN, HARP |
| 1 | TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | TTDN1, C7orf11, ABHS |
| 1 | FACTOR XII DEFICIENCY | F12, HAF, HAE3 |
| 1 | GTP CYCLOHYDROLASE I DEFICIENCY | GCH1, DYT5 |
| 1 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, | NCF2 |
| 1 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, | NCF1 |
| 1 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | CYBA |
| 1 | OVARIAN DYSGENESIS 1; ODG1 | FSHR, ODG1 |
| 1 | RENAL GLUCOSURIA; GLYS1 | SLC5A2, SGLT2 |
| 1 | GLYCOGEN STORAGE DISEASE VII | PFKM, GSD7 |
| 1 | GLYCOGEN STORAGE DISEASE V | PYGM |
| 1 | GLYCOGEN STORAGE DISEASE IV | GBE1 |
| 1 | GLYCOGEN STORAGE DISEASE III | AGL, GDE |
| 1 | GLYCOGEN STORAGE DISEASE II | GAA |
| 1 | GLYCOGEN STORAGE DISEASE Ib | G6PT1 |
| 1 | GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA | GSS, GSHS |
| 1 | GLUTARIC ACIDEMIA I | GCDH |
| 1 | ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA | AAAS, AAA |
| 1 | 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | HADHSC, SCHAD, HHF4 |
| 1 | GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A | CYP1B1, GLC3A |
| 1 | HYDATIDIFORM MOLE | NALP7, NOD12, PYPAF3, HYDM |
| 1 | GAUCHER DISEASE, TYPE IIIC | GBA |
| 1 | GAUCHER DISEASE, TYPE III | GBA |
| 1 | GAUCHER DISEASE, TYPE II | GBA |
| 1 | GAUCHER DISEASE, TYPE I | GBA |
| 1 | GM1-GANGLIOSIDOSIS, TYPE III | GLB1 |
| 1 | GM1-GANGLIOSIDOSIS, TYPE II | GLB1 |
| 1 | GM1-GANGLIOSIDOSIS, TYPE I | GLB1 |
| 1 | GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE | GCLC, GLCLC |
| 1 | GALACTOSEMIA | GALT |
| 1 | GALACTOSE EPIMERASE DEFICIENCY | GALE |
| 1 | GALACTOKINASE DEFICIENCY | GALK1 |
| 1 | FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY | FBP1 |
| 1 | FORMIMINOTRANSFERASE DEFICIENCY | FTCD |
| 1 | FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED | FSHB |
| 1 | FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND | WNT7A |
| 1 | FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY | GDF5, CDMP1, SYNS2 |
| 1 | FIBROMATOSIS, JUVENILE HYALINE | ANTXR2, CMG2, JHF, ISH |
| 1 | FERTILE EUNUCH SYNDROME | GNRHR, LHRHR |
| 1 | FANCONI-BICKEL SYNDROME; FBS | SLC2A2, GLUT2 |
| 1 | FANCONI ANEMIA; FA | FANCA, FACA, FA1, FA, FAA |
| 1 | EYE COLOR 3; EYCL3 | OCA2, P, PED, D15S12, BOCA, EYCL3 |
| 1 | EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC | GNRH1, LNRH |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS | EIF2AK3, PEK, PERK, WRS |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY | PLEC1, PLTN, EBS1 |
| 1 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1 | COL7A1 |
| 1 | ENTEROKINASE DEFICIENCY | PRSS7, ENTK |
| 1 | AICARDI-GOUTIERES SYNDROME 1; AGS1 | TREX1, AGS1, AGS5, CRV, HERNS |
| 1 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE | ADAMTS2, NPI |
| 1 | EHLERS-DANLOS SYNDROME, TYPE VI | PLOD, PLOD1 |
| 1 | EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN | FN1 |
| 1 | CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7 |
| 1 | ROSSELLI-GULIENETTI SYNDROME | HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7 |
| 1 | DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH | HSPG2, PLC, SJS, SJA, SJS1 |
| 1 | ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I | CDAN1, CDA1 |
| 1 | CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH | VLDLR, VLDLRCH |
| 1 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | IKBKAP, IKAP |
| 1 | DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC | DYM, FLJ90130, DMC, SMC |
| 1 | DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL | DBH |
| 1 | SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID | SI |
| 1 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 | GNPAT, DHAPAT |
| 1 | DICARBOXYLICAMINO ACIDURIA | SLC1A1, EAAC1 |
| 1 | LYSINURIC PROTEIN INTOLERANCE; LPI | SLC7A7, LPI |
| 1 | DIASTROPHIC DYSPLASIA | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | DONNAI-BARROW SYNDROME | LRP2, DBS |
| 1 | WOLFRAM SYNDROME 1; WFS1 | WFS1, WFRS, WFS, DFNA6 |
| 1 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1 | GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID |
| 1 | HYPOURICEMIA, RENAL | SLC22A12, OAT4L, URAT1 |
| 1 | LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC | LRPPRC, LRP130, LSFC |
| 1 | CYSTINURIA | SLC3A1, ATR1, D2H, NBAT |
| 1 | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | CTNS |
| 1 | CYSTINOSIS, NEPHROPATHIC; CTNS | CTNS |
| 1 | CYSTINOSIS, ADULT NONNEPHROPATHIC | CTNS |
| 1 | CYSTATHIONINURIA | CTH |
| 1 | CRIGLER-NAJJAR SYNDROME | UGT1A1, UGT1, GNT1 |
| 1 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 | PAX8 |
| 1 | BALLER-GEROLD SYNDROME; BGS | RECQL4, RTS, RECQ4 |
| 1 | AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN | SLC12A6, KCC3A, KCC3B, KCC3, ACCPN |
| 1 | MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 | CHST6, MCDC1 |
| 1 | CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2 | SLC4A11, BTR1, NABC1, CHED2, CDPD |
| 1 | CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS | SLC4A11, BTR1, NABC1, CHED2, CDPD |
| 1 | CORNEA PLANA 2; CNA2 | KERA, CNA2 |
| 1 | PLASMINOGEN DEFICIENCY, TYPE I | PLG |
| 1 | ACHROMATOPSIA 2; ACHM2 | CNGA3, CNG3, ACHM2 |
| 1 | COHEN SYNDROME; COH1 | COH1 |
| 1 | COCKAYNE SYNDROME, TYPE A; CSA | ERCC8, CKN1, CSA |
| 1 | CITRULLINEMIA, CLASSIC | ASS |
| 1 | CHONDROSARCOMA | EXT1 |
| 1 | HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA | LBR, PHA |
| 1 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 | PEX7, RCDP1 |
| 1 | CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD | PTHR1, PTHR |
| 1 | DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL | SLC26A3, DRA, CLD |
| 1 | CHEDIAK-HIGASHI SYNDROME; CHS | CHS1, LYST |
| 1 | GRISCELLI SYNDROME, TYPE 1; GS1 | MYO5A, MYH12, GS1 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A | GDAP1, CMT4A, CMT2K, CMT2G |
| 1 | CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | CEREBROTENDINOUS XANTHOMATOSIS | CYP27A1, CYP27, CTX |
| 1 | MARTSOLF SYNDROME | RAB3GAP2, RAB3GAP150, p150, KIAA0839 |
| 1 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2 | SIX6, MCOPCT2 |
| 1 | CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP | SLC22A5, OCTN2, CDSP, SCD |
| 1 | CARBOXYPEPTIDASE N DEFICIENCY | CPN1, SCPN, CPN |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A | MGAT2, CDGS2 |
| 1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A | PMM2, CDG1 |
| 1 | C SYNDROME | CD96, TACTILE |
| 1 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1 | ATP8B1, FIC1, BRIC, PFIC1 |
| 1 | BLOOM SYNDROME; BLM | RECQL3, RECQ2, BLM, BS |
| 1 | SECKEL SYNDROME 1 | ATR, FRP1, SCKL |
| 1 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | CYP4V2, BCD |
| 1 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY | MCCC2, MCCB |
| 1 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | MCCC1, MCCA |
| 1 | AUTISM | GLO1 |
| 1 | ATRICHIA WITH PAPULAR LESIONS; APL | HR, AU |
| 1 | ATRANSFERRINEMIA | TF |
| 1 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; | APTX, AOA, AOA1 |
| 1 | ATAXIA-TELANGIECTASIA; AT | ATM, ATA, AT1 |
| 1 | CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP | PRG4, CACP, MSF, SZP, HAPO |
| 1 | ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC | WISP3, PPAC, PPD |
| 1 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS | VPS33B |
| 1 | ARTERIAL TORTUOSITY SYNDROME; ATS | SLC2A10, GLUT10, ATS |
| 1 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI | ENPP1, PDNP1, NPPS, M6S1, PCA1 |
| 1 | ARGININOSUCCINIC ACIDURIA | ASL |
| 1 | ARGININEMIA | ARG1 |
| 1 | APOLIPOPROTEIN C-II DEFICIENCY | APOC2 |
| 1 | ANTLEY-BIXLER SYNDROME; ABS | FGFR2, BEK, CFD1, JWS |
| 1 | MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 | SOX2, MCOPS3 |
| 1 | ANONYCHIA CONGENITA | RSPO4, CRISTIN4 |
| 1 | ANEMIA, HYPOCHROMIC MICROCYTIC | NRAMP2 |
| 1 | TANGIER DISEASE; TGD | ABCA1, ABC1, HDLDT1, TGD |
| 1 | AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 | ALS2, ALSJ, PLSJ, IAHSP |
| 1 | CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE | TACSTD2, TROP2, M1S1 |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 | CLN2 |
| 1 | CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 | CLN3, BTS |
| 1 | LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2 | RPE65, RP20 |
| 1 | LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1 | GUCY2D, GUC2D, LCA1, CORD6 |
| 1 | ALSTROM SYNDROME; ALMS | ALMS1, ALSS, KIAA0328 |
| 1 | ALPHA-METHYLACETOACETIC ACIDURIA | ACAT1 |
| 1 | ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS | POLG, POLG1, POLGA, PEO, SANDO, SCAE |
| 1 | ALOPECIA UNIVERSALIS CONGENITA; ALUNC | HR, AU |
| 1 | ALKAPTONURIA | HGD, AKU |
| 1 | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | CYP11B2 |
| 1 | OCULOCUTANEOUS ALBINISM, TYPE III; OCA3 | TYRP1, CAS2, GP75 |
| 1 | ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A | TYR |
| 1 | MOVED TO 600899 AND 601457 | PRKDC, HYRC1, DNPK1 |
| 1 | GLUCOCORTICOID DEFICIENCY 1; GCCD1 | MC2R |
| 1 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY | CYP17A1, CYP17, P450C17 |
| 1 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE | CYP11B1, P450C11, FHI |
| 1 | POR DEFICIENCY | POR |
| 1 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | ACADVL, VLCAD |
| 1 | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACADS, SCAD |
| 1 | ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF | ACADL, LCAD |
| 1 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF | ACADM, MCAD |
| 1 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2 | HSN2 |
| 1 | ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE | GDF5, CDMP1, SYNS2 |
| 1 | ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ | SLC39A4, ZIP4 |
| 1 | CARPENTER SYNDROME | RAB23 |
| 1 | ACROCALLOSAL SYNDROME; ACLS | GLI3, PAPA, PAPB, ACLS |
| 1 | ACID PHOSPHATASE DEFICIENCY | ACP2 |
| 1 | CHONDRODYSPLASIA, GREBE TYPE | GDF5, CDMP1, SYNS2 |
| 1 | ACHONDROGENESIS, TYPE II; ACG2 | COL2A1 |
| 1 | ACHEIROPODY | LMBR1, ACHP, C7orf2, PPD2 |
| 1 | CHOREOACANTHOCYTOSIS; CHAC | VPS13A, CHAC |
| 1 | ABETALIPOPROTEINEMIA; ABL | MTP |
| 1 | ZINC, ELEVATED PLASMA | ALB |
| 1 | WOLFF-PARKINSON-WHITE SYNDROME | PRKAG2, WPWS, CMH6 |
| 1 | DENYS-DRASH SYNDROME | WT1 |
| 1 | WAGR SYNDROME | WT1 |
| 1 | ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A | MYH3 |
| 1 | WHIM SYNDROME | CXCR4, D2S201E, NPY3R, WHIM |
| 1 | WEYERS ACROFACIAL DYSOSTOSIS | EVC |
| 1 | WATSON SYNDROME | NF1, VRNF, WSS, NFNS |
| 1 | WAARDENBURG SYNDROME, TYPE IIA; WS2A | MITF, WS2A |
| 1 | WAARDENBURG SYNDROME, TYPE I; WS1 | PAX3, WS1, HUP2, CDHS |
| 1 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR | FGF23, ADHR, HPDR2, PHPTC |
| 1 | VERTICAL TALUS, CONGENITAL; CVT | HOXD10, HOX4D |
| 1 | VENTRICULAR TACHYCARDIA, FAMILIAL | GNAI2, GNAI2B, GIP |
| 1 | LONG QT SYNDROME 1; LQT1 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2 |
| 1 | VELOCARDIOFACIAL SYNDROME | TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR |
| 1 | VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY | TREX1, AGS1, AGS5, CRV, HERNS |
| 1 | MUCKLE-WELLS SYNDROME | CIAS1, FCU, FCAS, NALP3, PYPAF1 |
| 1 | ULCERATIVE COLITIS, SUSCEPTIBILITY TO | MUC3A |
| 1 | TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 | TRPS1 |
| 1 | TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 | TRPS1 |
| 1 | TRICHODENTOOSSEOUS SYNDROME | DLX3, TDO |
| 1 | TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 | DRD3, ETM1, FET1 |
| 1 | WITKOP SYNDROME | MSX1, HOX7, HYD1, OFC5 |
| 1 | THYROTOXIC PERIODIC PARALYSIS | CACNA1S, CACNL1A3, CCHL1A3 |
| 1 | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH | THRB, ERBA2, THR1 |
| 1 | DIGEORGE SYNDROME; DGS | TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR |
| 1 | THROMBOPHILIA | HABP2, PHBP, HGFAL, FSAP |
| 1 | THROMBOCYTOPENIA 2; THC2 | FLJ14813, THC2 |
| 1 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | FGFR3, ACH |
| 1 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; | ENG, END, HHT1, ORW |
| 1 | SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES | NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 |
| 1 | TARSAL-CARPAL COALITION SYNDROME; TCC | NOG, SYM1, SYNS1 |
| 1 | MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 | NOG, SYM1, SYNS1 |
| 1 | SYNDACTYLY, TYPE V | HOXD13, HOX4I, SPD, BDSD |
| 1 | SYNDACTYLY, TYPE III | GJA1, CX43, ODDD, SDTY3, ODOD |
| 1 | SYNPOLYDACTYLY 1; SPD1 | HOXD13, HOX4I, SPD, BDSD |
| 1 | SUPRAVALVULAR AORTIC STENOSIS; SVAS | ELN |
| 1 | STOMATOCYTOSIS I | EPB72 |
| 1 | STICKLER SYNDROME, TYPE III; STL3 | COL11A2, STL3, DFNA13 |
| 1 | POLYCYSTIC OVARY SYNDROME 1; PCOS1 | FST, FS |
| 1 | STEATOCYSTOMA MULTIPLEX | KRT17, PC2, PCHC1 |
| 1 | STAPES ANKYLOSIS WITH BROAD THUMB AND TOES | NOG, SYM1, SYNS1 |
| 1 | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | COL2A1 |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE | COL2A1 |
| 1 | SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC | COL2A1 |
| 1 | SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 | SHFM5 |
| 1 | SPINOCEREBELLAR ATAXIA 2; SCA2 | ATXN2, ATX2, SCA2 |
| 1 | SPINOCEREBELLAR ATAXIA 6; SCA6 | CACNA1A, CACNL1A4, SCA6 |
| 1 | SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT | VAPB, VAPC, ALS8 |
| 1 | MYOPATHY, SPHEROID BODY | TTID, MYOT |
| 1 | SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 | SPG4, SPAST |
| 1 | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A | SPG3A |
| 1 | SMITH-MAGENIS SYNDROME; SMS | RAI1, SMCR, SMS |
| 1 | SEPTOOPTIC DYSPLASIA | HESX1, RPX |
| 1 | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | FBN1, MFS1, WMS |
| 1 | SCHIZOPHRENIA 1; SCZD1 | CLINT1, EPN4, EPNR, KIAA0171, SCZD1 |
| 1 | ULNAR-MAMMARY SYNDROME; UMS | TBX3 |
| 1 | EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | SALIVARY GLAND ADENOMA, PLEOMORPHIC | PLAG1, SGPA, PSA |
| 1 | APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG | FGF10 |
| 1 | SILVER-RUSSELL SYNDROME; SRS | H19, D11S813E, ASM1, BWS |
| 1 | RING DERMOID OF CORNEA; RDC | PITX2, IDG2, RIEG1, RGS, IGDS2 |
| 1 | RIEGER SYNDROME, TYPE 1; RIEG1 | PITX2, IDG2, RIEG1, RGS, IGDS2 |
| 1 | RETINITIS PIGMENTOSA 10; RP10 | IMPDH1, RP10, LCA11 |
| 1 | RETINITIS PIGMENTOSA 9; RP9 | RP9 |
| 1 | RETINITIS PIGMENTOSA 1; RP1 | RP1, ORP1 |
| 1 | DOWLING-DEGOS DISEASE; DDD | KRT5, DDD |
| 1 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT | SLC4A1, AE1, EPB3 |
| 1 | RAPH BLOOD GROUP SYSTEM | CD151, PETA3, SFA1, MER2 |
| 1 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1 | NOS1, IHPS1 |
| 1 | PULMONARY HYPERTENSION, PRIMARY; PPH1 | BMPR2, PPH1 |
| 1 | PTOSIS, HEREDITARY CONGENITAL 1; PTOS1 | ZFH4 |
| 1 | PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE | ABCC6, ARA, ABC34, MLP1, PXE |
| 1 | PSEUDO-VON WILLEBRAND DISEASE | GP1BA |
| 1 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | NR3C2, MLR, MCR |
| 1 | PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK | DHS |
| 1 | EXFOLIATION SYNDROME; XFS | LOXL1, LOXL |
| 1 | PSEUDOACHONDROPLASIA; PSACH | COMP, EDM1, MED, PSACH |
| 1 | PROTEUS SYNDROME | PTEN, MMAC1 |
| 1 | PELVIC ORGAN PROLAPSE | LAMC1, LAMB2 |
| 1 | HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | DEMENTIA, FAMILIAL BRITISH; FBD | ITM2B, BRI, ABRI, FBD |
| 1 | CURRARINO SYNDROME | HLXB9, HOXHB9, SCRA1 |
| 1 | PRECOCIOUS PUBERTY, MALE-LIMITED | LHCGR |
| 1 | PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS | HOXA13, HOX1J |
| 1 | PORPHYRIA, ACUTE INTERMITTENT | HMBS, PBGD, UPS |
| 1 | POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1 | SART3, P100, KIAA0156, TIP110, DSAP1 |
| 1 | PORENCEPHALY, FAMILIAL | COL4A1 |
| 1 | GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS | GLI3, PAPA, PAPB, ACLS |
| 1 | PEUTZ-JEGHERS SYNDROME; PJS | STK11, PJS, LKB1 |
| 1 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; | MADH4, DPC4, SMAD4, JIP |
| 1 | POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD | TNFRSF11A, RANK, ODFR, OFE |
| 1 | MCCUNE-ALBRIGHT SYNDROME; MAS | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO |
| 1 | POLYDACTYLY, PREAXIAL IV | GLI3, PAPA, PAPB, ACLS |
| 1 | POLYDACTYLY, PREAXIAL II; PPD2 | LMBR1, ACHP, C7orf2, PPD2 |
| 1 | POLYDACTYLY, POSTAXIAL, TYPE A1 | GLI3, PAPA, PAPB, ACLS |
| 1 | POLYCYSTIC KIDNEYS | PKD1 |
| 1 | KINDLER SYNDROME | KIND1, URP1, C20orf42 |
| 1 | PNEUMOTHORAX, PRIMARY SPONTANEOUS | FLCN, BHD |
| 1 | PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL | GH1, GHN |
| 1 | PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA | CRB1, RP12, LCA8 |
| 1 | PIEBALD TRAIT; PBT | SNAI2, SLUG, WS2D |
| 1 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A | RET, MEN2A |
| 1 | THIOUREA TASTING | TAS2R38, T2R61, PTC |
| 1 | PERIODONTITIS, AGGRESSIVE, 1 | CTSC, CPPI, PALS, PLS, HMS, JPD |
| 1 | HYPERKALEMIC PERIODIC PARALYSIS; HYPP | SCN4A, HYPP, NAC1A |
| 1 | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS | KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3 |
| 1 | BENIGN CHRONIC PEMPHIGUS; BCPM | ATP2C1, BCPM, HHD |
| 1 | LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT | LMNB1 |
| 1 | PELGER-HUET ANOMALY; PHA | LBR, PHA |
| 1 | PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM | RDS, RP7, PRPH2, PRPH, AVMD, AOFMD |
| 1 | CHAR SYNDROME | TFAP2B, CHAR |
| 1 | PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1 | SNCA, NACP, PARK1, PARK4 |
| 1 | PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD | MSX2, CRS2, HOX8 |
| 1 | PARIETAL FORAMINA; PFM | MSX2, CRS2, HOX8 |
| 1 | PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC | SCN4A, HYPP, NAC1A |
| 1 | PARAGANGLIOMAS 1; PGL1 | SDHD, PGL1 |
| 1 | PANIC DISORDER 1; PAND1 | COMT |
| 1 | PAROXYSMAL EXTREME PAIN DISORDER | SCN9A, NENA, PN1 |
| 1 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL | VCP, IBMPFD |
| 1 | OTOFACIOCERVICAL SYNDROME | EYA1, BOR |
| 1 | BUSCHKE-OLLENDORFF SYNDROME | LEMD3, MAN1 |
| 1 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 | CLCN7, CLC7, OPTA2, OPTB4 |
| 1 | OSSEOUS HETEROPLASIA, PROGRESSIVE | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO |
| 1 | GNATHODIAPHYSEAL DYSPLASIA; GDD | TMEM16E, GDD1 |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE IV | COL1A1 |
| 1 | ENCHONDROMATOSIS, MULTIPLE | PTHR1, PTHR |
| 1 | OPTIC NERVE HYPOPLASIA, BILATERAL | PAX6, AN2, MGDA |
| 1 | OPTIC ATROPHY 1; OPA1 | OPA1, NTG, NPG |
| 1 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT | OPA3, MGA3 |
| 1 | SPINOCEREBELLAR ATAXIA 7; SCA7 | ATXN7, SCA7, OPCA3 |
| 1 | SPINOCEREBELLAR ATAXIA 1; SCA1 | ATXN1, ATX1, SCA1 |
| 1 | OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD | PABPN1, PABP2, PAB2 |
| 1 | FEINGOLD SYNDROME | MYCN, NMYC, ODED, MODED |
| 1 | OCULODENTODIGITAL DYSPLASIA; ODDD | GJA1, CX43, ODDD, SDTY3, ODOD |
| 1 | NOONAN SYNDROME 1; NS1 | PTPN11, PTP2C, SHP2, NS1 |
| 1 | SICK SINUS SYNDROME, AUTOSOMAL DOMINANT | HCN4 |
| 1 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 | PDE6B, PDEB, CSNB3 |
| 1 | NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | FGFR3, ACH |
| 1 | CYCLIC HEMATOPOIESIS | ELA2 |
| 1 | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP | PMP22, CMT1A, CMT1E, DSS |
| 1 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1 | SPTLC1, LBC1, SPT1, HSN1, HSAN |
| 1 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B | RET, MEN2A |
| 1 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | NF1, VRNF, WSS, NFNS |
| 1 | NEUROFIBROMATOSIS, TYPE I; NF1 | MSH2, COCA1, FCC1, HNPCC1 |
| 1 | AMYOTROPHY, HEREDITARY NEURALGIC; HNA | SEPT9, MSF, MSF1, NAPB |
| 1 | SCHWANNOMATOSIS | NF2 |
| 1 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ | UMOD, HNFJ, FJHN, MCKD2, ADMCKD2 |
| 1 | NAIL-PATELLA SYNDROME; NPS | LMX1B, NPS1 |
| 1 | NAEGELI SYNDROME | KRT14 |
| 1 | CARNEY COMPLEX, TYPE 1; CNC1 | PRKAR1A, TSE1, CNC1, CAR, PPNAD1 |
| 1 | DYSTROPHIA MYOTONICA 1 | DMPK, DM, DMK |
| 1 | MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | CLCN1 |
| 1 | MYOPATHY, DISTAL 1; MPD1 | MYH7, CMH1, MPD1, CMD1S |
| 1 | EPISODIC ATAXIA, TYPE 1; EA1 | KCNA1, AEMK, EA1 |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
| 1 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A | TTID, MYOT |
| 1 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A | HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A |
| 1 | COWDEN DISEASE; CD | PTEN, MMAC1 |
| 1 | TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME | MYH8 |
| 1 | HOLOPROSENCEPHALY 2; HPE2 | SIX3, HPE2 |
| 1 | KNIEST DYSPLASIA | COL2A1 |
| 1 | METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE | PTHR1, PTHR |
| 1 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | MBD5, KIAA1461, MRD1 |
| 1 | MENIERE DISEASE | COCH, DFNA9 |
| 1 | MELORHEOSTOSIS | LEMD3, MAN1 |
| 1 | MELANOMA-ASTROCYTOMA SYNDROME | CDKN2A, MTS1, P16, MLM, CMM2 |
| 1 | MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 | CDKN2A, MTS1, P16, MLM, CMM2 |
| 1 | MELANOMA, CUTANEOUS MALIGNANT; CMM | CMM4 |
| 1 | MAY-HEGGLIN ANOMALY; MHA | MYH9, MHA, FTNS, DFNA17 |
| 1 | MARSHALL SYNDROME | COL11A1, STL2 |
| 1 | MARFAN SYNDROME, TYPE II; MFS2 | TGFBR2, HNPCC6, AAT3, MFS2 |
| 1 | MARFAN SYNDROME; MFS | FBN1, MFS1, WMS |
| 1 | TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF | TCOF1, MFD1 |
| 1 | HYPOMAGNESEMIA 2, RENAL; HOMG2 | FXYD2, ATP1G1, HOMG2 |
| 1 | MACULAR DYSTROPHY, CONCENTRIC ANNULAR | BEST1, VMD2 |
| 1 | MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| 1 | MACULAR DYSTROPHY, VITELLIFORM; VMD | BEST1, VMD2 |
| 1 | EPSTEIN SYNDROME | MYH9, MHA, FTNS, DFNA17 |
| 1 | FECHTNER SYNDROME; FTNS | MYH9, MHA, FTNS, DFNA17 |
| 1 | CHROMOSOME 5q DELETION SYNDROME | IRF1, MAR |
| 1 | BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS | PTEN, MMAC1 |
| 1 | LYMPHEDEMA-DISTICHIASIS SYNDROME | FOXC2, FKHL14, MFH1 |
| 1 | YELLOW NAIL SYNDROME | FOXC2, FKHL14, MFH1 |
| 1 | LYMPHEDEMA, HEREDITARY, II | FOXC2, FKHL14, MFH1 |
| 1 | LYMPHEDEMA, HEREDITARY, I | FLT4, VEGFR3, PCL |
| 1 | LYMPHEDEMA AND PTOSIS | FOXC2, FKHL14, MFH1 |
| 1 | POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2 | ALG10, KCR1 |
| 1 | LIPOMATOSIS, MULTIPLE | HMGA2, HMGIC, BABL, LIPO, STQTL9 |
| 1 | PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT | COL2A1 |
| 1 | LEOPARD SYNDROME 1 | PTPN11, PTP2C, SHP2, NS1 |
| 1 | LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN | FH |
| 1 | LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1 | FLNB, SCT, AOI, LRS1 |
| 1 | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS | GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID |
| 1 | WAARDENBURG SYNDROME, TYPE III; WS3 | PAX3, WS1, HUP2, CDHS |
| 1 | KERATODERMA, PALMOPLANTAR, WITH DEAFNESS | GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID |
| 1 | KERATOCONUS 1; KTCN1 | VSX1, RINX, PPCD, PPD, KTCN |
| 1 | KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT | GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID |
| 1 | KERATITIS, HEREDITARY | PAX6, AN2, MGDA |
| 1 | KAPOSI SARCOMA | IL6, IFNB2, BSF2 |
| 1 | KALLMANN SYNDROME 2; KAL2 | FGFR1, FLT2, KAL2 |
| 1 | SMALL PATELLA SYNDROME; SPS | TBX4 |
| 1 | IVIC SYNDROME | SALL4, HSAL4 |
| 1 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP | ABCB4, PGY3, MDR3 |
| 1 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| 1 | ICHTHYOSIS, BULLOUS TYPE | KRT2A, KRT2E |
| 1 | ICHTHYOSIS VULGARIS | FLG |
| 1 | ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM | KRT1 |
| 1 | HYPOTRICHOSIS SIMPLEX OF SCALP | CDSN, HTSS |
| 1 | PALLISTER-HALL SYNDROME; PHS | GLI3, PAPA, PAPB, ACLS |
| 1 | HYPOPHOSPHATASIA, ADULT TYPE | ALPL, HOPS, TNSALP |
| 1 | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE | GATA3, HDR |
| 1 | HYPOCHONDROPLASIA; HCH | FGFR3, ACH |
| 1 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 | CASR, HHC1, PCAR1, FIH |
| 1 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 | RYR1, MHS, CCO |
| 1 | HYPERPARATHYROIDISM 2; HRPT2 | HRPT2, C1orf28 |
| 1 | HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | HYPERLIPOPROTEINEMIA, TYPE V | APOA5 |
| 1 | HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL | LPL, LIPD, HDLCQ11 |
| 1 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B | APOB, FLDB |
| 1 | HYPERCALCIURIA, ABSORPTIVE, 2; HCA2 | SAC, HCA2 |
| 1 | GILBERT SYNDROME | UGT1A1, UGT1, GNT1 |
| 1 | HYPERALPHALIPOPROTEINEMIA | CETP, HDLCQ10 |
| 1 | WAGNER SYNDROME 1; WGN1 | CSPG2, WGN, WGN1, ERVR |
| 1 | HOLOPROSENCEPHALY 4; HPE4 | TGIF, HPE4 |
| 1 | HOLOPROSENCEPHALY 3; HPE3 | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| 1 | HOLT-ORAM SYNDROME; HOS | TBX5 |
| 1 | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | TNFRSF1A, TNFR1, TNFAR, FPF |
| 1 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5 | BCL11A, CTIP1, EVI9, KIAA1809, HBFQTL5 |
| 1 | HEPATIC ADENOMAS, FAMILIAL | TCF1, HNF1A, MODY3 |
| 1 | MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 | CACNA1A, CACNL1A4, SCA6 |
| 1 | HEMATURIA, BENIGN FAMILIAL; BFH | COL4A3 |
| 1 | HAWKINSINURIA | HPD |
| 1 | HASHIMOTO THYROIDITIS | CTLA4, IDDM12, CELIAC3 |
| 1 | HAND-FOOT-UTERUS SYNDROME | HOXA13, HOX1J |
| 1 | AROMATASE EXCESS SYNDROME; AEXS | CYP19A1, CYP19, ARO |
| 1 | GLOMUVENOUS MALFORMATIONS; GVM | GLML, GVM, VMGLOM |
| 1 | RENAL CYSTS AND DIABETES SYNDROME | TCF2, HNF2, MODY5, FJHN |
| 1 | IRIDOGONIODYSGENESIS, TYPE 2; IRID2 | PITX2, IDG2, RIEG1, RGS, IGDS2 |
| 1 | GILLES DE LA TOURETTE SYNDROME; GTS | SLITRK1, KIAA1910 |
| 1 | GERSTMANN-STRAUSSLER DISEASE; GSD | PRNP, PRIP |
| 1 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD | TIMP3, SFD |
| 1 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 | COL8A2, FECD, PPCD2 |
| 1 | FRASIER SYNDROME | WT1 |
| 1 | MENTAL RETARDATION, FRA12A TYPE | DIP2B, KIAA1463 |
| 1 | FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME | PAX6, AN2, MGDA |
| 1 | FISH-EYE DISEASE; FED | LCAT |
| 1 | LAURIN-SANDROW SYNDROME | MIPOL1 |
| 1 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1 | KIF21A, KIAA1708, FEOM1, CFEOM1 |
| 1 | DESMOID DISEASE, HEREDITARY | APC, GS, FPC |
| 1 | BIRT-HOGG-DUBE SYNDROME; BHD | FLCN, BHD |
| 1 | FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP | ACVR1, ACVRLK2, ALK2, FOP |
| 1 | EXUDATIVE VITREORETINOPATHY 1; EVR1 | FZD4, EVR1 |
| 1 | EXOSTOSES, MULTIPLE, TYPE II | EXT2 |
| 1 | EXOSTOSES, MULTIPLE, TYPE I | EXT1 |
| 1 | COCKAYNE SYNDROME, TYPE B; CSB | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | ERYTHROCYTOSIS, FAMILIAL, 1 | EPOR |
| 1 | ERYTHERMALGIA, PRIMARY | SCN9A, NENA, PN1 |
| 1 | AORTIC ANEURYSM, FAMILIAL THORACIC 4 | MYH11, AAT4, FAA4 |
| 1 | CYLINDROMATOSIS, FAMILIAL; CYLD | CYLD1, CDMT, EAC |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS | COL2A1 |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 | COMP, EDM1, MED, PSACH |
| 1 | EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND | COL7A1 |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP | KRT5, DDD |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE | PLEC1, PLTN, EBS1 |
| 1 | EPIDERMOLYSIS BULLOSA, PRETIBIAL | COL7A1 |
| 1 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE | COL7A1 |
| 1 | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN | COL7A1 |
| 1 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | PDGFRB, PDGFR |
| 1 | CAMURATI-ENGELMANN DISEASE | TGFB1, DPD1, CED |
| 1 | ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | SPTA1 |
| 1 | EHLERS-DANLOS SYNDROME, PROGEROID FORM | B4GALT7, XGALT1, XGPT1 |
| 1 | EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | COL3A1 |
| 1 | EHLERS-DANLOS SYNDROME, TYPE II | COL5A1 |
| 1 | ECTOPIA PUPILLAE | PAX6, AN2, MGDA |
| 1 | ECTOPIA LENTIS, ISOLATED | FBN1, MFS1, WMS |
| 1 | ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2 | GJB6, CX30, DFNA3, HED, ED2 |
| 1 | RAPP-HODGKIN SYNDROME; RHS | TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | DYSTONIA 12; DYT12 | ATP1A3, DYT12, RDP |
| 1 | DYSTONIA, DOPA-RESPONSIVE; DRD | GCH1, DYT5 |
| 1 | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 | DYT1, TOR1A |
| 1 | DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 | DYX1C1, DYXC1, DYX1 |
| 1 | DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 | ADAR, DRADA, DSH, DSRAD, IFI4, G1P1 |
| 1 | DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD | EFEMP1, FBNL, DHRD |
| 1 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2 | GCK, HHF3 |
| 1 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL | AQP2 |
| 1 | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE | AVP, AVRP, VP |
| 1 | DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR | KRT14 |
| 1 | DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | DENTINOGENESIS IMPERFECTA 1; DGI1 | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | MAJOR AFFECTIVE DISORDER 1; MAFD1 | XBP1, XBP2 |
| 1 | DENTIN DYSPLASIA, TYPE II | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA | DRPLA |
| 1 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS | NOTCH3, CADASIL, CASIL |
| 1 | OPTIC ATROPHY 1 AND DEAFNESS | OPA1, NTG, NPG |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1 | DIAPH1, DFNA1, LFHL1 |
| 1 | DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF | GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID |
| 1 | DARIER-WHITE DISEASE; DAR | ATP2A2, ATP2B, DAR |
| 1 | CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON | FGFR2, BEK, CFD1, JWS |
| 1 | CROUZON SYNDROME | FGFR2, BEK, CFD1, JWS |
| 1 | CRI-DU-CHAT SYNDROME | CTNND2, NPRAP |
| 1 | CREATINE PHOSPHOKINASE, ELEVATED SERUM | CAV3, LGMD1C |
| 1 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD | ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD |
| 1 | CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS | PAX3, WS1, HUP2, CDHS |
| 1 | CORNELIA DE LANGE SYNDROME 1; CDLS1 | NIPBL, CDLS1 |
| 1 | CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | CORNEAL FLECK DYSTROPHY | PIP5K3, CFD |
| 1 | CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | EPILEPSY, BENIGN NEONATAL, 2; EBN2 | KCNQ3, EBN2, BFNC2 |
| 1 | EPILEPSY, BENIGN NEONATAL, 1; EBN1 | KCNQ2, EBN1 |
| 1 | CONE-ROD DYSTROPHY 2; CORD2 | CRX, CORD2, CRD, LCA7 |
| 1 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1 | MSH2, COCA1, FCC1, HNPCC1 |
| 1 | COLOBOMA OF OPTIC NERVE | PAX6, AN2, MGDA |
| 1 | PAPILLORENAL SYNDROME | PAX2 |
| 1 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FCAS | CIAS1, FCU, FCAS, NALP3, PYPAF1 |
| 1 | CLEIDOCRANIAL DYSPLASIA; CCD | RUNX2, CBFA1, PEBP2A1, AML3 |
| 1 | CLEFT PALATE, ISOLATED; CPI | SATB2, KIAA1034 |
| 1 | OROFACIAL CLEFT 1; OFC1 | MTR |
| 1 | POPLITEAL PTERYGIUM SYNDROME; PPS | IRF6, VWS, LPS, PIT, PPS, OFC6 |
| 1 | VAN DER WOUDE SYNDROME; VWS | IRF6, VWS, LPS, PIT, PPS, OFC6 |
| 1 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 | MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8 |
| 1 | CHOREA, BENIGN HEREDITARY; BHC | TITF1, NKX2A, TTF1 |
| 1 | CHONDROCALCINOSIS 2; CCAL2 | ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD |
| 1 | ALAGILLE SYNDROME 1; ALGS1 | JAG1, AGS, AHD |
| 1 | CHERUBISM | SH3BP2, CRPM |
| 1 | CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS | PMP22, CMT1A, CMT1E, DSS |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A | PMP22, CMT1A, CMT1E, DSS |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 | KIF1B, CMT2A, CMT2A1 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B | MPZ, CMT1B, CMTDI3, CHM, DSS |
| 1 | EAR WAX, WET/DRY | ABCC11, MRP8, EWWD, WW |
| 1 | SOTOS SYNDROME | NSD1, ARA267, STO |
| 1 | DEMENTIA, FAMILIAL DANISH; FDD | ITM2B, BRI, ABRI, FBD |
| 1 | SPINOCEREBELLAR ATAXIA, 16q22-LINKED | PLEKHG4 |
| 1 | CENTRAL CORE DISEASE OF MUSCLE | RYR1, MHS, CCO |
| 1 | LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD | ITGB2, CD18, LCAMB, LAD |
| 1 | CEREBRAL CAVERNOUS MALFORMATIONS; CCM | CCM1, CAM, KRIT1 |
| 1 | CATARACT, LAMELLAR | HSF4, CTM |
| 1 | CATARACT, ZONULAR PULVERULENT 1; CZP1 | GJA8, CX50, CAE1 |
| 1 | CATARACT, CRYSTALLINE ACULEIFORM | CRYGD, CRYG4, CCP |
| 1 | PARAGANGLIOMAS 4; PGL4 | SDHB, SDH1, SDHIP, PGL4 |
| 1 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 | TNNI3, CMH7 |
| 1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 | MYBPC3, CMH4 |
| 1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 | TPM1, CMH3 |
| 1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 | TNNT2, CMH2, CMD1D |
| 1 | CARDIOFACIOCUTANEOUS SYNDROME | BRAF |
| 1 | CARCINOID TUMORS, INTESTINAL | SDHD, PGL1 |
| 1 | LYNCH CANCER FAMILY SYNDROME II; LCFS2 | MSH2, COCA1, FCC1, HNPCC1 |
| 1 | CAMPOMELIC DYSPLASIA | SOX9, CMD1, SRA1 |
| 1 | CAFFEY DISEASE | COL1A1 |
| 1 | BURKITT LYMPHOMA; BL | MYC |
| 1 | BRANCHIOOTORENAL SYNDROME 1; BOR1 | EYA1, BOR |
| 1 | BRACHYDACTYLY, TYPE E; BDE | HOXD13, HOX4I, SPD, BDSD |
| 1 | BRACHYDACTYLY, TYPE D; BDD | HOXD13, HOX4I, SPD, BDSD |
| 1 | BRACHYDACTYLY, TYPE C; BDC | GDF5, CDMP1, SYNS2 |
| 1 | BRACHYDACTYLY, TYPE B1; BDB1 | ROR2, BDB1, BDB, NTRKR2 |
| 1 | BOOMERANG DYSPLASIA | FLNB, SCT, AOI, LRS1 |
| 1 | BLOOD GROUP--Yt SYSTEM; YT | ACHE, YT |
| 1 | BLOOD GROUP--WRIGHT ANTIGEN; WR | SLC4A1, AE1, EPB3 |
| 1 | BLOOD GROUP--WALDNER TYPE; WD | SLC4A1, AE1, EPB3 |
| 1 | BLOOD GROUP--SCIANNA SYSTEM; SC | ERMAP, SC, RD |
| 1 | RADIN BLOOD GROUP ANTIGEN; RD | ERMAP, SC, RD |
| 1 | BLOOD GROUP--OK; OK | BSG |
| 1 | BLOOD GROUP--I SYSTEM; Ii | GCNT2 |
| 1 | BLOOD GROUP--DIEGO SYSTEM; DI | SLC4A1, AE1, EPB3 |
| 1 | BLOOD GROUP--COLTON; CO | AQP1, CHIP28, CO |
| 1 | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES | FOXL2, BPES, BPES1, PFRK, POF3 |
| 1 | AORTIC VALVE DISEASE | NOTCH1, TAN1 |
| 1 | BASAL CELL NEVUS SYNDROME; BCNS | PTCH1, NBCCS, BCNS, HPE7 |
| 1 | MACHADO-JOSEPH DISEASE; MJD | ATXN3, MJD, SCA3 |
| 1 | SVEINSSON CHORIORETINAL ATROPHY; SCRA | TEAD1, TCF13, REF1 |
| 1 | ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS | NKX2E, CSX |
| 1 | ATELOSTEOGENESIS, TYPE III; AOIII | FLNB, SCT, AOI, LRS1 |
| 1 | ATELOSTEOGENESIS, TYPE I; AOI | FLNB, SCT, AOI, LRS1 |
| 1 | EPISODIC ATAXIA, TYPE 2; EA2 | CACNA1A, CACNL1A4, SCA6 |
| 1 | STICKLER SYNDROME, TYPE I; STL1 | COL2A1 |
| 1 | ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1 | TPM2, TMSB, AMCD1, DA1 |
| 1 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 | TGFB3 |
| 1 | TOWNES-BROCKS SYNDROME; TBS | SALL1, HSAL1, TBS |
| 1 | ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1 | ALDH7A1, ATQ1, EPD, PDE |
| 1 | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | ANIRIDIA, TYPE II; AN2 | PAX6, AN2, MGDA |
| 1 | ANGIOEDEMA, HEREDITARY; HAE | C1NH, HAE1, HAE2, SERPING1 |
| 1 | AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 | TRPM7, LTRPC7, CHAK |
| 1 | AMYLOIDOSIS VI | CST3 |
| 1 | AMYLOIDOSIS V | GSN |
| 1 | AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASTIC TYPE, WITH TAURODONTISM; | DLX3, TDO |
| 1 | AMELOGENESIS IMPERFECTA 2, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT; | ENAM, AIH2 |
| 1 | ALZHEIMER DISEASE 2 | APOE, AD2 |
| 1 | ALTERNATING HEMIPLEGIA OF CHILDHOOD | ATP1A2, FHM2, MHP2 |
| 1 | GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA | CYP11B1, P450C11, FHI |
| 1 | ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO |
| 1 | TIETZ SYNDROME | MITF, WS2A |
| 1 | ADULT SYNDROME | TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | ADENYLOSUCCINASE DEFICIENCY | ADSL |
| 1 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, | ADA |
| 1 | ACROKERATOSIS VERRUCIFORMIS; AKV | ATP2A2, ATP2B, DAR |
| 1 | APERT SYNDROME | FGFR2, BEK, CFD1, JWS |
| 1 | NEUROFIBROMATOSIS, TYPE II; NF2 | NF2 |
| 1 | ACHONDROPLASIA; ACH | FGFR3, ACH |